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TPD52L1 TPD52 like 1 [ Homo sapiens (human) ]

Gene ID: 7164, updated on 27-Mar-2020

Summary

Official Symbol
TPD52L1provided by HGNC
Official Full Name
TPD52 like 1provided by HGNC
Primary source
HGNC:HGNC:12006
See related
Ensembl:ENSG00000111907 MIM:604069
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

Genomic context

See TPD52L1 in Genome Data Viewer
Location:
6q22.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (125153730..125264407)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (125474876..125584644)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene sodium/potassium transporting ATPase interacting 2 Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene ring finger protein 217 Neighboring gene uncharacterized LOC100126584 Neighboring gene CRISPRi-validated cis-regulatory element chr6.4553 Neighboring gene HD domain containing 2

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8556

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tumor protein D53
Names
tumor protein D52 like 1

NCBI Reference Sequences (RefSeq)

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_001003395.3NP_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:15158
    TPD52; Tumour protein D52 family
  2. NM_001003396.3NP_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:12131
    TPD52; tumor protein D52 family
  3. NM_001003397.3NP_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:12129
    TPD52; Tumour protein D52 family
  4. NM_001292026.3NP_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
    Q15730
    Related
    ENSP00000432590.1, ENST00000534199.5
    Conserved Domains (1) summary
    pfam04201
    Location:15100
    TPD52; tumor protein D52 family
  5. NM_001300994.3NP_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, Q15730
    Related
    ENSP00000436953.1, ENST00000527711.5
    Conserved Domains (1) summary
    pfam04201
    Location:12174
    TPD52; Tumour protein D52 family
  6. NM_001318903.2NP_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, Q15730
    Related
    ENSP00000306285.13, ENST00000304877.17
    Conserved Domains (1) summary
    pfam04201
    Location:12192
    TPD52; Tumour protein D52 family
  7. NM_001318907.2NP_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
    Q15730
    Related
    ENSP00000376273.2, ENST00000392482.6
    Conserved Domains (1) summary
    pfam04201
    Location:15100
    TPD52; tumor protein D52 family
  8. NM_003287.4NP_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
    Q16890
    UniProtKB/TrEMBL
    Q15730
    Related
    ENSP00000434142.1, ENST00000534000.6
    Conserved Domains (1) summary
    pfam04201
    Location:12187
    TPD52; Tumour protein D52 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    125153730..125264407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715557.4XP_006715620.1  tumor protein D53 isoform X2

    UniProtKB/TrEMBL
    E9PNK6
    Related
    ENSP00000434743.1, ENST00000528193.5
    Conserved Domains (1) summary
    pfam04201
    Location:12156
    TPD52; tumor protein D52 family
  2. XM_024446534.1XP_024302302.1  tumor protein D53 isoform X1

    Conserved Domains (1) summary
    pfam04201
    Location:12156
    TPD52; tumor protein D52 family
  3. XM_017011238.2XP_016866727.1  tumor protein D53 isoform X3

    Conserved Domains (1) summary
    pfam04201
    Location:12143
    TPD52; Tumour protein D52 family
  4. XM_017011239.1XP_016866728.1  tumor protein D53 isoform X4

    Conserved Domains (1) summary
    pfam04201
    Location:15102
    TPD52; Tumour protein D52 family
  5. XM_005267122.2XP_005267179.1  tumor protein D53 isoform X6

    See identical proteins and their annotated locations for XP_005267179.1

    UniProtKB/Swiss-Prot
    Q16890
    Conserved Domains (1) summary
    pfam04201
    Location:15158
    TPD52; Tumour protein D52 family
  6. XM_017011240.1XP_016866729.1  tumor protein D53 isoform X5

    UniProtKB/Swiss-Prot
    Q16890
    Related
    ENSP00000432787.1, ENST00000524679.1
    Conserved Domains (1) summary
    pfam04201
    Location:15100
    TPD52; tumor protein D52 family

RNA

  1. XR_001743601.2 RNA Sequence

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