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TPD52L1 TPD52 like 1 [ Homo sapiens (human) ]

Gene ID: 7164, updated on 3-Apr-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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Location:
6q22.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (125153773..125264407)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (126342146..126452806)
105.20220307 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. 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
  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. 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
  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. A testis-specific and testis developmentally regulated tumor protein D52 (TPD52)-like protein TPD52L3/hD55 interacts with TPD52 family proteins. Cao Q, et al. Biochem Biophys Res Commun, 2006 Jun 9. PMID 16631610

See all (32) 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)

Genotypes

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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of JNK cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of MAP kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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