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    TPD52L1 TPD52 like 1 [ Homo sapiens (human) ]

    Gene ID: 7164, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TPD52L1provided by HGNC
    Official Full Name
    TPD52 like 1provided by HGNC
    Primary source
    HGNC:HGNC:12006
    See related
    Ensembl:ENSG00000111907 MIM:604069; AllianceGenome:HGNC:12006
    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
    D53; TPD53
    Summary
    This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]
    Expression
    Broad expression in adrenal (RPKM 40.8), salivary gland (RPKM 18.6) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TPD52L1 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (125153773..125264407)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (126342146..126452806)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (125474919..125585553)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene MPRA-validated peak6102 silencer Neighboring gene ring finger protein 217 Neighboring gene MPRA-validated peak6103 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr6:125426552-125426785 Neighboring gene uncharacterized LOC124901394 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:125444775-125445974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:125475715-125476302 Neighboring gene uncharacterized LOC100126584 Neighboring gene MPRA-validated peak6105 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125583541-125584054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125584055-125584568 Neighboring gene uncharacterized LOC124901395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17517 Neighboring gene CRISPRi-validated cis-regulatory element chr6.4553 Neighboring gene CRISPRi-validated cis-regulatory element chr6.4554 Neighboring gene HD domain containing 2 Neighboring gene uncharacterized LOC107986640

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and in situ hybridization mapping of a mouse Tpd52l1 (D53) orthologue to chromosome 10A4-B2. Byrne JA, et al. Cytogenet Cell Genet, 1998. PMID 9730602
    2. Cloning of a third member of the D52 gene family indicates alternative coding sequence usage in D52-like transcripts. Nourse CR, et al. Biochim Biophys Acta, 1998 Nov 26. PMID 9838088
    3. The role of the coiled-coil motif in interactions mediated by TPD52. Sathasivam P, et al. Biochem Biophys Res Commun, 2001 Oct 19. PMID 11594751
    4. A screening method to identify genes commonly overexpressed in carcinomas and the identification of a novel complementary DNA sequence. Byrne JA, et al. Cancer Res, 1995 Jul 1. PMID 7796418
    5. Identification of MAL2, a novel member of the mal proteolipid family, though interactions with TPD52-like proteins in the yeast two-hybrid system. Wilson SH, et al. Genomics, 2001 Aug. PMID 11549320

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The results indicate that tumor protein D52-like 1 genes are not ubiquitously expressed in leukemic bone marrow in children, and that RNA sample parameters may influence measures of gene expression more than commonly appreciated.
      Title: Expression of tumor protein D52-like genes in childhood leukemia at diagnosis: clinical and sample considerations.
    2. These results identify 14-3-3 proteins as partners for hD53, and alternative splicing as a mechanism for regulating 14-3-3 binding.
      Title: Alternative splicing as a mechanism for regulating 14-3-3 binding: interactions between hD53 (TPD52L1) and 14-3-3 proteins.
    3. a member of the tumor protein D52 family involved in cell proliferation and calcium signaling, up-regulates the ASK1-induced apoptosis [D53L1]
      Title: Positive regulation of apoptosis signal-regulating kinase 1 by hD53L1.
    Submit: New GeneRIF Correction

    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

    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

    • MGC8556

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G2/M transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in G2/M transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tumor protein D53
    Names
    tumor protein D52 like 1

    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.

    Genomic

    1. NG_029911.1 RefSeqGene

      Range
      5041..115675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003395.3 → NP_001003395.1  tumor protein D53 isoform 2

      See identical proteins and their annotated locations for NP_001003395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI222450, AK124817, AL121938, U44428, U44429
      Consensus CDS
      CCDS43502.1
      UniProtKB/Swiss-Prot
      Q16890
      UniProtKB/TrEMBL
      Q15730
      Related
      ENSP00000435447.1, ENST00000532429.5
      Conserved Domains (1) summary
      pfam04201
      Location:15 → 158
      TPD52; tumor protein D52 family

    2. NM_001003396.3 → NP_001003396.1  tumor protein D53 isoform 3

      See identical proteins and their annotated locations for NP_001003396.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (3) has a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AI222450, AL121938, CB114736, U44427, U44429
      Consensus CDS
      CCDS34527.1
      UniProtKB/Swiss-Prot
      Q16890
      UniProtKB/TrEMBL
      Q15730
      Related
      ENSP00000357387.5, ENST00000368402.9
      Conserved Domains (1) summary
      pfam04201
      Location:12 → 131
      TPD52; tumor protein D52 family

    3. NM_001003397.3 → NP_001003397.1  tumor protein D53 isoform 4

      See identical proteins and their annotated locations for NP_001003397.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two exons in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (4) has a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AI222450, AL121938, BC002375, CB114736, U44429
      Consensus CDS
      CCDS34528.1
      UniProtKB/Swiss-Prot
      Q16890
      UniProtKB/TrEMBL
      Q15730
      Related
      ENSP00000357373.2, ENST00000368388.6
      Conserved Domains (1) summary
      pfam04201
      Location:12 → 129
      TPD52; tumor protein D52 family

    4. NM_001292026.3 → NP_001278955.1  tumor protein D53 isoform 5

      See identical proteins and their annotated locations for NP_001278955.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and lacks two exons in the 3' coding region compared to variant 1. It initiates translation at a downstream start codon. The resulting isoform (5) has a shorter N-terminus and a distinct C-terminus, and is shorter than isoform 1. Variants 5 and 8 encode the same isoform (5).
      Source sequence(s)
      AI222450, AK124817, AL121938, BP334548, U44429
      Consensus CDS
      CCDS75514.1
      UniProtKB/TrEMBL
      E9PNQ9
      Related
      ENSP00000432590.1, ENST00000534199.5
      Conserved Domains (1) summary
      pfam04201
      Location:15 → 100
      TPD52; tumor protein D52 family

    5. NM_001300994.3 → NP_001287923.1  tumor protein D53 isoform 6

      See identical proteins and their annotated locations for NP_001287923.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AI222450, AL121938, BQ641312, CB114736, U44429
      Consensus CDS
      CCDS75513.1
      UniProtKB/TrEMBL
      E9PPQ1
      Related
      ENSP00000436953.1, ENST00000527711.5
      Conserved Domains (1) summary
      pfam04201
      Location:12 → 174
      TPD52; tumor protein D52 family

    6. NM_001318903.2 → NP_001305832.1  tumor protein D53 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (7) is longer than isoform 1.
      Source sequence(s)
      AI222450, AL121938, BM546629, CB114736, U44429
      Consensus CDS
      CCDS83122.1
      UniProtKB/TrEMBL
      J3KNE7
      Related
      ENSP00000306285.13, ENST00000304877.17
      Conserved Domains (1) summary
      pfam04201
      Location:12 → 192
      TPD52; tumor protein D52 family

    7. NM_001318907.2 → NP_001305836.1  tumor protein D53 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and lacks two exons in the 3' coding region, compared to variant 1. It initiates translation at a downstream start codon. The resulting isoform (5) has a shorter N-terminus and a distinct C-terminus, and is shorter than isoform 1. Variants 5 and 8 encode the same isoform (5).
      Source sequence(s)
      AI222450, AL121938, BG770463, U44429
      Consensus CDS
      CCDS75514.1
      UniProtKB/TrEMBL
      E9PNQ9
      Related
      ENSP00000376273.2, ENST00000392482.6
      Conserved Domains (1) summary
      pfam04201
      Location:15 → 100
      TPD52; tumor protein D52 family

    8. NM_003287.4 → NP_003278.1  tumor protein D53 isoform 1

      See identical proteins and their annotated locations for NP_003278.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AI222450, AL121938, U44427, U44429
      Consensus CDS
      CCDS5130.1
      UniProtKB/Swiss-Prot
      A8K757, A8K772, A8MUD2, A8MUJ7, A8MW70, F6V707, O43397, Q16890, Q5TC99, Q5TDQ0, Q9BUQ6, Q9C054
      Related
      ENSP00000434142.1, ENST00000534000.6
      Conserved Domains (1) summary
      pfam04201
      Location:12 → 187
      TPD52; tumor protein D52 family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      125153773..125264407
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419288.1 → XP_047275244.1  tumor protein D53 isoform X3

    2. XM_017011239.2 → XP_016866728.1  tumor protein D53 isoform X4

      UniProtKB/TrEMBL
      E9PNQ9
      Conserved Domains (1) summary
      pfam04201
      Location:15 → 102
      TPD52; Tumour protein D52 family

    3. XM_047419287.1 → XP_047275243.1  tumor protein D53 isoform X2

    4. XM_047419286.1 → XP_047275242.1  tumor protein D53 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      126342146..126452806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356296.1 → XP_054212271.1  tumor protein D53 isoform X3

    2. XM_054356297.1 → XP_054212272.1  tumor protein D53 isoform X4

    3. XM_054356295.1 → XP_054212270.1  tumor protein D53 isoform X1

    4. XM_054356294.1 → XP_054212269.1  tumor protein D53 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16890.1 GenPept UniProtKB/Swiss-Prot:Q16890

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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