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

    Gene ID: 149095, updated on 2-Nov-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
    mouse all
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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. 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
    2. DC-STAMP and TACE Levels are Higher in Patients with Periodontitis. Guardiola CJA, et al. Braz Dent J, 2020 Mar-Apr. PMID 32556010
    3. DC-STAMP, a novel multimembrane-spanning molecule preferentially expressed by dendritic cells. Hartgers FC, et al. Eur J Immunol, 2000 Dec. PMID 11169400
    4. 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
    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 (17) 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

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

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