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DCST1 DC-STAMP domain containing 1 [ Homo sapiens (human) ]

Gene ID: 149095, updated on 17-Sep-2024

Summary

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Official Symbol
DCST1provided by HGNC
Official Full Name
DC-STAMP domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26539
See related
Ensembl:ENSG00000163357 MIM:619860; AllianceGenome:HGNC:26539
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
SNKY; SPE49
Summary
This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Expression
Biased expression in testis (RPKM 2.9), skin (RPKM 1.8) and 8 other tissues See more
Orthologs
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Genomic context

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See DCST1 in Genome Data Viewer
Location:
1q21.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155033806..155050930)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154173182..154190315)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155006282..155023406)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154977250-154977922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154980166-154980880 Neighboring gene zinc finger and BTB domain containing 7B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154982382-154983131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154984631-154985378 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:154989823 Neighboring gene DC-STAMP domain containing 2 Neighboring gene DCST1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1383 Neighboring gene ADAM15-EFNA4 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155029213-155030023 Neighboring gene ADAM metallopeptidase domain 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1386 Neighboring gene NANOG hESC enhancer GRCh37_chr1:155037167-155037668 Neighboring gene EFNA4-EFNA3 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155041991-155042503 Neighboring gene ephrin A4

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 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. DC-STAMP and TACE Levels are Higher in Patients with Periodontitis. Guardiola CJA, et al. Braz Dent J, 2020 Mar-Apr. PMID 32556010
  2. LncRNA DCST1-AS1 downregulates miR-29b through methylation in glioblastoma (GBM) to promote cancer cell proliferation. Hu S, et al. Clin Transl Oncol, 2020 Dec. PMID 32418155
  3. LncRNA DCST1-AS1 inhibits PDLCs' proliferation in periodontitis and may bind with miR-21 precursor to upregulate PLAP-1. Wang X, et al. J Periodontal Res, 2021 Apr. PMID 33533513
  4. DC-STAMP, a novel multimembrane-spanning molecule preferentially expressed by dendritic cells. Hartgers FC, et al. Eur J Immunol, 2000 Dec. PMID 11169400
  5. Global functional profiling of human ubiquitome identifies E3 ubiquitin ligase DCST1 as a novel negative regulator of Type-I interferon signaling. Nair S, et al. Sci Rep, 2016 Oct 26. PMID 27782195, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA DCST1-AS1 downregulates miR-29b through methylation in glioblastoma (GBM) to promote cancer cell proliferation.
    Title: LncRNA DCST1-AS1 downregulates miR-29b through methylation in glioblastoma (GBM) to promote cancer cell proliferation.
  2. LncRNA DCST1-AS1 inhibits PDLCs' proliferation in periodontitis and may bind with miR-21 precursor to upregulate PLAP-1.
    Title: LncRNA DCST1-AS1 inhibits PDLCs' proliferation in periodontitis and may bind with miR-21 precursor to upregulate PLAP-1.
  3. TACE and DC-STAMP protein levels are elevated in patients with periodontitis, favoring progression of bone resorption.
    Title: DC-STAMP and TACE Levels are Higher in Patients with Periodontitis.
  4. DCST1 regulated Type I interferon signaling by interacting with and promoting ubiquitination-mediated degradation of STAT2, an essential component of antiviral gene induction.
    Title: Global functional profiling of human ubiquitome identifies E3 ubiquitin ligase DCST1 as a novel negative regulator of Type-I interferon signaling.
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

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: ADAM15

Homology

Clone Names

  • FLJ32785

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in fusion of sperm to egg plasma membrane involved in single fertilization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of type I interferon-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm-egg recognition ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in acrosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
E3 ubiquitin-protein ligase DCST1
Names
DC-STAMP domain-containing protein 1
RING-type E3 ubiquitin transferase
NP_001137159.1
NP_689707.2

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_027536.1 RefSeqGene

    Range
    5019..22125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143687.2 → NP_001137159.1  E3 ubiquitin-protein ligase DCST1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) compared to isoform 1.
    Source sequence(s)
    AK057347, AK301876, AK301902, AK301935
    Consensus CDS
    CCDS44235.1
    UniProtKB/Swiss-Prot
    Q5T197
    UniProtKB/TrEMBL
    B4DXB8, B4DXE3
    Related
    ENSP00000387369.2, ENST00000423025.6
    Conserved Domains (1) summary
    pfam07782
    Location:380 → 570
    DC_STAMP; DC-STAMP-like protein

  2. NM_152494.4 → NP_689707.2  E3 ubiquitin-protein ligase DCST1 isoform 1

    See identical proteins and their annotated locations for NP_689707.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL451085
    Consensus CDS
    CCDS1083.1
    UniProtKB/Swiss-Prot
    B4DXA0, E9PHV3, Q5T197, Q5T198, Q6P1W6, Q71S70, Q96M70
    Related
    ENSP00000295542.2, ENST00000295542.6
    Conserved Domains (1) summary
    pfam07782
    Location:405 → 595
    DC_STAMP; DC-STAMP-like protein

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    155033806..155050930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    154173182..154190315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T197.1 GenPept UniProtKB/Swiss-Prot:Q5T197

Gene LinkOut

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