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    PLEKHA1 pleckstrin homology domain containing A1 [ Homo sapiens (human) ]

    Gene ID: 59338, updated on 10-Dec-2024

    Summary

    Official Symbol
    PLEKHA1provided by HGNC
    Official Full Name
    pleckstrin homology domain containing A1provided by HGNC
    Primary source
    HGNC:HGNC:14335
    See related
    Ensembl:ENSG00000107679 MIM:607772; AllianceGenome:HGNC:14335
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TAPP1
    Summary
    This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in skin (RPKM 23.3), lung (RPKM 17.3) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PLEKHA1 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (122374708..122442600)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123270978..123338841)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124134224..124202116)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124050601-124051101 Neighboring gene BTB domain containing 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124053014-124054004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4142 Neighboring gene RNA, U6 small nuclear 728, pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:124128134-124128658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2893 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2891 Neighboring gene microRNA 3941 Neighboring gene HTRA1 and ARMS2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124233495-124234018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124234019-124234540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124235637-124236362 Neighboring gene age-related maculopathy susceptibility 2 Neighboring gene HtrA serine peptidase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:124253973-124255172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124264199-124264698

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatidylinositol-3,4-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Leydig cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in androgen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in establishment of protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in estrogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in luteinization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ruffle organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    pleckstrin homology domain-containing family A member 1
    Names
    pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
    tandem PH domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027823.2 RefSeqGene

      Range
      5002..62639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001974.4NP_001001974.1  pleckstrin homology domain-containing family A member 1 isoform 1

      See identical proteins and their annotated locations for NP_001001974.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      AL133603, BC001136, BC042458
      Consensus CDS
      CCDS7629.1
      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Related
      ENSP00000357986.3, ENST00000368990.8
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    2. NM_001195608.2NP_001182537.1  pleckstrin homology domain-containing family A member 1 isoform 2

      See identical proteins and their annotated locations for NP_001182537.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is shorter at the 5' UTR and includes an alternate exon, which results in a frameshift, compared to variant 1. The resulting isoform (2) has a distinct C-terminus, compared to isoform 1. Variants 3, 10, and 11 all encode the same isoform (2).
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS55730.1
      UniProtKB/Swiss-Prot
      Q9HB21
      UniProtKB/TrEMBL
      B3KQL5
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    3. NM_001330178.2NP_001317107.1  pleckstrin homology domain-containing family A member 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate exon in the 3' coding region, which results in a frameshift compared to variant 1. The resulting isoform (3) is shorter than and has a distinct C-terminus compared to isoform 1. Variants 4 and 12-16 all encode the same isoform (3).
      Source sequence(s)
      AK075159, BC042458, BG248876, BX842242, CN310745, CN310748, DN989473, R26739
      Consensus CDS
      CCDS81517.1
      UniProtKB/TrEMBL
      Q5RGS4
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    4. NM_001377230.1NP_001364159.1  pleckstrin homology domain-containing family A member 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 2, and 6-9, encodes isoform 1.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS7629.1
      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    5. NM_001377231.1NP_001364160.1  pleckstrin homology domain-containing family A member 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 2, 5, and 7-9, encodes isoform 1.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS7629.1
      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    6. NM_001377232.1NP_001364161.1  pleckstrin homology domain-containing family A member 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 1, 2, 5, 6, 8, and 9, encodes isoform 1.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS7629.1
      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    7. NM_001377234.1NP_001364163.1  pleckstrin homology domain-containing family A member 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 1, 2, 5-7, and 9, encodes isoform 1.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS7629.1
      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    8. NM_001377235.1NP_001364164.1  pleckstrin homology domain-containing family A member 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 1, 2, and 5-8, encodes isoform 1.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS7629.1
      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    9. NM_001377237.1NP_001364166.1  pleckstrin homology domain-containing family A member 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 3 and 11, encodes isoform 2.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS55730.1
      Related
      ENSP00000357984.2, ENST00000368988.5
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    10. NM_001377238.1NP_001364167.1  pleckstrin homology domain-containing family A member 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 3 and 10, encodes isoform 2.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS55730.1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    11. NM_001377240.1NP_001364169.1  pleckstrin homology domain-containing family A member 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 4 and 13-16, encodes isoform 3.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS81517.1
      UniProtKB/TrEMBL
      Q5RGS4
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    12. NM_001377241.1NP_001364170.1  pleckstrin homology domain-containing family A member 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 4, 12, and 14-16, encodes isoform 3.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS81517.1
      UniProtKB/TrEMBL
      Q5RGS4
      Related
      ENSP00000357985.1, ENST00000368989.6
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    13. NM_001377242.1NP_001364171.1  pleckstrin homology domain-containing family A member 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 4, 12, 13, 15, and 16, encodes isoform 3.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS81517.1
      UniProtKB/TrEMBL
      Q5RGS4
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    14. NM_001377243.1NP_001364172.1  pleckstrin homology domain-containing family A member 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 4, 12-14, and 16, encodes isoform 3.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS81517.1
      UniProtKB/TrEMBL
      Q5RGS4
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    15. NM_001377244.1NP_001364173.1  pleckstrin homology domain-containing family A member 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 4 and 12-15, encodes isoform 3.
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS81517.1
      UniProtKB/TrEMBL
      Q5RGS4
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    16. NM_001377245.1NP_001364174.1  pleckstrin homology domain-containing family A member 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variant 18, encodes isoform 4.
      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    17. NM_001377246.1NP_001364175.1  pleckstrin homology domain-containing family A member 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variant 17, encodes isoform 4.
      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    18. NM_001377247.1NP_001364176.1  pleckstrin homology domain-containing family A member 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13271
      Location:174287
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:1110
      PH-like; Pleckstrin homology-like domain
    19. NM_001377248.1NP_001364177.1  pleckstrin homology domain-containing family A member 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    20. NM_001377249.1NP_001364178.1  pleckstrin homology domain-containing family A member 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13271
      Location:165278
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:4897
      PH-like; Pleckstrin homology-like domain
    21. NM_001377250.1NP_001364179.1  pleckstrin homology domain-containing family A member 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (2) summary
      cd13271
      Location:182295
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:1114
      PH-like; Pleckstrin homology-like domain
    22. NM_001377251.1NP_001364180.1  pleckstrin homology domain-containing family A member 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (2) summary
      cd13271
      Location:174287
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:1110
      PH-like; Pleckstrin homology-like domain
    23. NM_001377252.1NP_001364181.1  pleckstrin homology domain-containing family A member 1 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24), as well as variants 25 and 26, encodes isoform 10.
      Source sequence(s)
      BX664700, BX842242
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    24. NM_001377253.1NP_001364182.1  pleckstrin homology domain-containing family A member 1 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25), as well as variants 24 and 26, encodes isoform 10.
      Source sequence(s)
      BX664700, BX842242
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    25. NM_001377254.1NP_001364183.1  pleckstrin homology domain-containing family A member 1 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26), as well as variants 24 and 25, encodes isoform 10.
      Source sequence(s)
      BX664700, BX842242
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    26. NM_001377255.1NP_001364184.1  pleckstrin homology domain-containing family A member 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    27. NM_001377256.1NP_001364185.1  pleckstrin homology domain-containing family A member 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (2) summary
      cd13271
      Location:143256
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    28. NM_001377257.1NP_001364186.1  pleckstrin homology domain-containing family A member 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    29. NM_001377258.1NP_001364187.1  pleckstrin homology domain-containing family A member 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
      Conserved Domains (1) summary
      cl17171
      Location:1117
      PH-like; Pleckstrin homology-like domain
    30. NM_021622.5NP_067635.2  pleckstrin homology domain-containing family A member 1 isoform 1

      See identical proteins and their annotated locations for NP_067635.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 2, and 5-9 all encode the same isoform (1).
      Source sequence(s)
      BX664700, BX842242
      Consensus CDS
      CCDS7629.1
      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

    RNA

    1. NR_165160.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
    2. NR_165161.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
    3. NR_165162.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
    4. NR_165164.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242
    5. NR_165165.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BX664700, BX842242

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      122374708..122442600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448108.2XP_024303876.1  pleckstrin homology domain-containing family A member 1 isoform X1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    2. XM_047425608.1XP_047281564.1  pleckstrin homology domain-containing family A member 1 isoform X4

    3. XM_024448114.2XP_024303882.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    4. XM_017016478.3XP_016871967.1  pleckstrin homology domain-containing family A member 1 isoform X1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    5. XM_017016479.3XP_016871968.1  pleckstrin homology domain-containing family A member 1 isoform X2

    6. XM_024448109.2XP_024303877.1  pleckstrin homology domain-containing family A member 1 isoform X1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    7. XM_047425609.1XP_047281565.1  pleckstrin homology domain-containing family A member 1 isoform X4

    8. XM_011540021.2XP_011538323.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_011538323.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    9. XM_011540018.2XP_011538320.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_011538320.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    10. XM_017016483.2XP_016871972.1  pleckstrin homology domain-containing family A member 1 isoform X4

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    11. XM_017016487.2XP_016871976.1  pleckstrin homology domain-containing family A member 1 isoform X5

      UniProtKB/TrEMBL
      Q5RGS4
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    12. XM_024448110.2XP_024303878.1  pleckstrin homology domain-containing family A member 1 isoform X1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    13. XM_047425612.1XP_047281568.1  pleckstrin homology domain-containing family A member 1 isoform X5

      UniProtKB/TrEMBL
      Q5RGS4
    14. XM_047425599.1XP_047281555.1  pleckstrin homology domain-containing family A member 1 isoform X1

    15. XM_047425611.1XP_047281567.1  pleckstrin homology domain-containing family A member 1 isoform X4

    16. XM_047425613.1XP_047281569.1  pleckstrin homology domain-containing family A member 1 isoform X5

      UniProtKB/TrEMBL
      Q5RGS4
    17. XM_047425606.1XP_047281562.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
    18. XM_011540017.2XP_011538319.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_011538319.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    19. XM_017016484.2XP_016871973.1  pleckstrin homology domain-containing family A member 1 isoform X4

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    20. XM_011540022.2XP_011538324.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_011538324.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    21. XM_047425610.1XP_047281566.1  pleckstrin homology domain-containing family A member 1 isoform X4

    22. XM_017016482.2XP_016871971.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    23. XM_047425598.1XP_047281554.1  pleckstrin homology domain-containing family A member 1 isoform X1

    24. XM_047425605.1XP_047281561.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
    25. XM_011540019.2XP_011538321.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_011538321.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    26. XM_011540024.2XP_011538326.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_011538326.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    27. XM_047425603.1XP_047281559.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
    28. XM_047425600.1XP_047281556.1  pleckstrin homology domain-containing family A member 1 isoform X1

    29. XM_024448113.2XP_024303881.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1
      Related
      ENSP00000376547.3, ENST00000392799.7
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    30. XM_024448107.2XP_024303875.1  pleckstrin homology domain-containing family A member 1 isoform X1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    31. XM_047425607.1XP_047281563.1  pleckstrin homology domain-containing family A member 1 isoform X4

    32. XM_047425602.1XP_047281558.1  pleckstrin homology domain-containing family A member 1 isoform X1

    33. XM_047425604.1XP_047281560.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KQ55, D3DRE2, Q9BVK0, Q9HB21
      UniProtKB/TrEMBL
      B2RBH1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      123270978..123338841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366487.1XP_054222462.1  pleckstrin homology domain-containing family A member 1 isoform X1

    2. XM_054366506.1XP_054222481.1  pleckstrin homology domain-containing family A member 1 isoform X4

    3. XM_054366501.1XP_054222476.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/TrEMBL
      B2RBH1
    4. XM_054366480.1XP_054222455.1  pleckstrin homology domain-containing family A member 1 isoform X1

    5. XM_054366495.1XP_054222470.1  pleckstrin homology domain-containing family A member 1 isoform X2

    6. XM_054366484.1XP_054222459.1  pleckstrin homology domain-containing family A member 1 isoform X1

    7. XM_054366507.1XP_054222482.1  pleckstrin homology domain-containing family A member 1 isoform X4

    8. XM_054366483.1XP_054222458.1  pleckstrin homology domain-containing family A member 1 isoform X1

    9. XM_054366481.1XP_054222456.1  pleckstrin homology domain-containing family A member 1 isoform X1

    10. XM_054366504.1XP_054222479.1  pleckstrin homology domain-containing family A member 1 isoform X4

    11. XM_054366510.1XP_054222485.1  pleckstrin homology domain-containing family A member 1 isoform X5

      UniProtKB/TrEMBL
      Q5RGS4
    12. XM_054366489.1XP_054222464.1  pleckstrin homology domain-containing family A member 1 isoform X1

    13. XM_054366511.1XP_054222486.1  pleckstrin homology domain-containing family A member 1 isoform X5

      UniProtKB/TrEMBL
      Q5RGS4
    14. XM_054366486.1XP_054222461.1  pleckstrin homology domain-containing family A member 1 isoform X1

    15. XM_054366509.1XP_054222484.1  pleckstrin homology domain-containing family A member 1 isoform X4

    16. XM_054366512.1XP_054222487.1  pleckstrin homology domain-containing family A member 1 isoform X5

      UniProtKB/TrEMBL
      Q5RGS4
    17. XM_054366502.1XP_054222477.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/TrEMBL
      B2RBH1
    18. XM_054366482.1XP_054222457.1  pleckstrin homology domain-containing family A member 1 isoform X1

    19. XM_054366503.1XP_054222478.1  pleckstrin homology domain-containing family A member 1 isoform X4

    20. XM_054366491.1XP_054222466.1  pleckstrin homology domain-containing family A member 1 isoform X1

    21. XM_054366508.1XP_054222483.1  pleckstrin homology domain-containing family A member 1 isoform X4

    22. XM_054366498.1XP_054222473.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/TrEMBL
      B2RBH1
    23. XM_054366485.1XP_054222460.1  pleckstrin homology domain-containing family A member 1 isoform X1

    24. XM_054366500.1XP_054222475.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/TrEMBL
      B2RBH1
    25. XM_054366488.1XP_054222463.1  pleckstrin homology domain-containing family A member 1 isoform X1

    26. XM_054366490.1XP_054222465.1  pleckstrin homology domain-containing family A member 1 isoform X1

    27. XM_054366496.1XP_054222471.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/TrEMBL
      B2RBH1
    28. XM_054366493.1XP_054222468.1  pleckstrin homology domain-containing family A member 1 isoform X1

    29. XM_054366497.1XP_054222472.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/TrEMBL
      B2RBH1
    30. XM_054366492.1XP_054222467.1  pleckstrin homology domain-containing family A member 1 isoform X1

    31. XM_054366505.1XP_054222480.1  pleckstrin homology domain-containing family A member 1 isoform X4

    32. XM_054366494.1XP_054222469.1  pleckstrin homology domain-containing family A member 1 isoform X1

    33. XM_054366499.1XP_054222474.1  pleckstrin homology domain-containing family A member 1 isoform X3

      UniProtKB/TrEMBL
      B2RBH1