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

    Gene ID: 149095, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: ADAM15

    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

    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)

    NEW Try the new Transcript table

    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_001143687.2NP_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:380570
      DC_STAMP; DC-STAMP-like protein
    2. NM_152494.4NP_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:405595
      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)