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    PLEKHA8 pleckstrin homology domain containing A8 [ Homo sapiens (human) ]

    Gene ID: 84725, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLEKHA8provided by HGNC
    Official Full Name
    pleckstrin homology domain containing A8provided by HGNC
    Primary source
    HGNC:HGNC:30037
    See related
    Ensembl:ENSG00000106086 MIM:608639; AllianceGenome:HGNC:30037
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAPP2
    Summary
    Enables several functions, including ceramide binding activity; glycolipid transfer activity; and phosphatidylinositol-4-phosphate binding activity. Involved in ER to Golgi ceramide transport. Located in nucleoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 2.2), testis (RPKM 1.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHA8 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30028412..30130483)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30166094..30268134)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30068028..30170099)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29968955-29969454 Neighboring gene secernin 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:30000281-30001070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18052 Neighboring gene FKBP14 antisense RNA 1 Neighboring gene FKBP prolyl isomerase 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25804 Neighboring gene NANOG hESC enhancer GRCh37_chr7:30120436-30120962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25805 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30150426-30150612 Neighboring gene uncharacterized LOC105375216 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30174520-30174897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30188905-30189404 Neighboring gene maturin, neural progenitor differentiation regulator homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18058 Neighboring gene ribosomal protein S27 pseudogene 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Two sphingolipid transfer proteins, CERT and FAPP2: their roles in sphingolipid metabolism. Yamaji T, et al. IUBMB Life, 2008 Aug. PMID 18459163
    2. Connecting vesicular transport with lipid synthesis: FAPP2. D'Angelo G, et al. Biochim Biophys Acta, 2012 Aug. PMID 22266015, Free PMC Article
    3. The glycolipid transfer protein (GLTP) domain of phosphoinositol 4-phosphate adaptor protein-2 (FAPP2): structure drives preference for simple neutral glycosphingolipids. Kamlekar RK, et al. Biochim Biophys Acta, 2013 Feb. PMID 23159414, Free PMC Article
    4. Modulation of hepatitis C virus genome replication by glycosphingolipids and four-phosphate adaptor protein 2. Khan I, et al. J Virol, 2014 Nov. PMID 25122779, Free PMC Article
    5. Gene expression profiles for predicting the efficacy of the anticancer drug 5-fluorouracil in breast cancer. Tsao DA, et al. DNA Cell Biol, 2010 Jun. PMID 20482226

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of FAPP2 gene induces cell autophagy and inhibits PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic leukemia.
      Title: Downregulation of FAPP2 gene induces cell autophagy and inhibits PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic leukemia.
    2. Phosphatidylinositol 4-phosphate adaptor protein 2 accelerates the proliferation and invasion of hepatocellular carcinoma cells by enhancing Wnt/beta-catenin signaling.
      Title: Phosphatidylinositol 4-phosphate adaptor protein 2 accelerates the proliferation and invasion of hepatocellular carcinoma cells by enhancing Wnt/β-catenin signaling.
    3. miR-98 is involved in missed abortion by targeting GDF6 and FAPP2.
      Title: miR-98 is involved in missed abortion by targeting GDF6 and FAPP2.
    4. FAPP2 Accelerates the Proliferation and Invasion of Hepatocellular Carcinoma Cells via Wnt/beta-Catenin Signaling.
      Title: FAPP2 Accelerates the Proliferation and Invasion of Hepatocellular Carcinoma Cells via Wnt/β-Catenin Signaling.
    5. FAPP2 could act as an oncogene in the regulation of tumor growth and may provide a new therapeutic target for human colon cancer.
      Title: FAPP2 promotes tumor cell growth in human colon cancer through activation of Wnt signaling.
    6. Four bulky, conserved hydrophobic residues involved in "sensor-like" interactions with lipid chains in protein hydrophobic pockets and FF motifs in GLTP and FAPP2.
      Title: Structural analyses of 4-phosphate adaptor protein 2 yield mechanistic insights into sphingolipid recognition by the glycolipid transfer protein family.
    7. Altogether, this study implies that hepatitis C virus coopts FAPP2 for virus genome replication via phosphatidylinositol 4-phosphate binding and glycosphingolipid transport to the hepatitis C virus replication complex.
      Title: Modulation of hepatitis C virus genome replication by glycosphingolipids and four-phosphate adaptor protein 2.
    8. FAPP2 functions in both membrane trafficking and lipid metabolism in a fashion that integrates its activities in membrane trafficking and in lipid transfer. (Review)
      Title: Connecting vesicular transport with lipid synthesis: FAPP2.
    9. Data show that FAPP2 is present in tubules forming from the trans-Golgi in epithelial MDCK cells.
      Title: Golgi protein FAPP2 tubulates membranes.
    10. Data demonstrate FAPP2 is required for cilium formation in polarized MDCK cells.
      Title: FAPP2, cilium formation, and compartmentalization of the apical membrane in polarized Madin-Darby canine kidney (MDCK) cells.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3358, DKFZp313M1034, DKFZp686J09164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ceramide 1-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide 1-phosphate transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glycolipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glycolipid transfer activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-4-phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ER to Golgi ceramide transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ceramide 1-phosphate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ceramide transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycolipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intermembrane lipid transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family A member 8
    Names
    PH domain-containing family A member 8
    phosphatidylinositol 4-phosphate adaptor protein-2
    phosphatidylinositol-four-phosphate adapter protein 2
    phosphoinositol 4-phosphate adapter protein 2
    pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
    serologically defined breast cancer antigen NY-BR-86

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001197026.2 → NP_001183955.1  pleckstrin homology domain-containing family A member 8 isoform 1

      See identical proteins and their annotated locations for NP_001183955.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC007285, AI954066, AK294857
      Consensus CDS
      CCDS56473.1
      UniProtKB/Swiss-Prot
      B4DH00, Q7Z5V8, Q96JA3, Q9BU78, Q9H274, Q9H8Z7
      UniProtKB/TrEMBL
      A0A2P1JJM6
      Related
      ENSP00000397947.1, ENST00000449726.6
      Conserved Domains (2) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam08718
      Location:333 → 470
      GLTP; Glycolipid transfer protein (GLTP)

    2. NM_001197027.2 → NP_001183956.1  pleckstrin homology domain-containing family A member 8 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC007036, AC007285, AI168153, AK294857
      Consensus CDS
      CCDS75574.1
      UniProtKB/TrEMBL
      A0A087X1S6
      Related
      ENSP00000484427.1, ENST00000622102.4
      Conserved Domains (3) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:1 → 93
      PH; PH domain
      pfam08718
      Location:333 → 454
      GLTP; Glycolipid transfer protein (GLTP)

    3. NM_001350973.2 → NP_001337902.1  pleckstrin homology domain-containing family A member 8 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC007036, AC007285
      Consensus CDS
      CCDS87489.1
      Related
      ENSP00000379556.2, ENST00000396257.6
      Conserved Domains (2) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam08718
      Location:333 → 455
      GLTP; Glycolipid transfer protein (GLTP)

    4. NM_001350974.2 → NP_001337903.1  pleckstrin homology domain-containing family A member 8 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC007036, AC007285
      Consensus CDS
      CCDS87490.1
      UniProtKB/TrEMBL
      B5MDU3
      Related
      ENSP00000379558.1, ENST00000396259.5
      Conserved Domains (2) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam08718
      Location:333 → 428
      GLTP; Glycolipid transfer protein (GLTP)

    5. NM_001350975.2 → NP_001337904.1  pleckstrin homology domain-containing family A member 8 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC007036, AC007285
      Conserved Domains (1) summary
      pfam08718
      Location:134 → 229
      GLTP; Glycolipid transfer protein (GLTP)

    6. NM_001363473.1 → NP_001350402.1  pleckstrin homology domain-containing family A member 8 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC007285
      Conserved Domains (2) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam08718
      Location:333 → 428
      GLTP; Glycolipid transfer protein (GLTP)

    7. NM_001363474.1 → NP_001350403.1  pleckstrin homology domain-containing family A member 8 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC007036, AC007285
      Conserved Domains (1) summary
      pfam08718
      Location:164 → 259
      GLTP; Glycolipid transfer protein (GLTP)

    8. NM_032639.4 → NP_116028.1  pleckstrin homology domain-containing family A member 8 isoform 3

      See identical proteins and their annotated locations for NP_116028.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region and contains an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC007285, AK294857, BC002838
      Consensus CDS
      CCDS5424.1
      UniProtKB/Swiss-Prot
      Q96JA3
      Related
      ENSP00000258679.7, ENST00000258679.11
      Conserved Domains (3) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:1 → 93
      PH; PH domain
      pfam08718
      Location:333 → 428
      GLTP; Glycolipid transfer protein (GLTP)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      30028412..30130483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249897.3 → XP_005249954.1  pleckstrin homology domain-containing family A member 8 isoform X3

      Conserved Domains (3) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:1 → 93
      PH; PH domain
      pfam08718
      Location:333 → 428
      GLTP; Glycolipid transfer protein (GLTP)

    2. XM_011515592.4 → XP_011513894.1  pleckstrin homology domain-containing family A member 8 isoform X2

      Conserved Domains (3) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:1 → 93
      PH; PH domain
      pfam08718
      Location:333 → 454
      GLTP; Glycolipid transfer protein (GLTP)

    3. XM_017012744.2 → XP_016868233.1  pleckstrin homology domain-containing family A member 8 isoform X1

      Conserved Domains (3) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:1 → 93
      PH; PH domain
      pfam08718
      Location:333 → 455
      GLTP; Glycolipid transfer protein (GLTP)

    4. XM_011515596.3 → XP_011513898.1  pleckstrin homology domain-containing family A member 8 isoform X4

      UniProtKB/Swiss-Prot
      O95397
      Conserved Domains (1) summary
      pfam08718
      Location:164 → 301
      GLTP; Glycolipid transfer protein (GLTP)

    5. XM_017012746.2 → XP_016868235.1  pleckstrin homology domain-containing family A member 8 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      30166094..30268134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359273.1 → XP_054215248.1  pleckstrin homology domain-containing family A member 8 isoform X3

    2. XM_054359272.1 → XP_054215247.1  pleckstrin homology domain-containing family A member 8 isoform X2

    3. XM_054359271.1 → XP_054215246.1  pleckstrin homology domain-containing family A member 8 isoform X1

    4. XM_054359274.1 → XP_054215249.1  pleckstrin homology domain-containing family A member 8 isoform X4

      UniProtKB/Swiss-Prot
      O95397

    5. XM_054359275.1 → XP_054215250.1  pleckstrin homology domain-containing family A member 8 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JA3.3 GenPept UniProtKB/Swiss-Prot:Q96JA3

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