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    VPS26C VPS26 endosomal protein sorting factor C [ Homo sapiens (human) ]

    Gene ID: 10311, updated on 2-Nov-2024

    Summary

    Official Symbol
    VPS26Cprovided by HGNC
    Official Full Name
    VPS26 endosomal protein sorting factor Cprovided by HGNC
    Primary source
    HGNC:HGNC:3044
    See related
    Ensembl:ENSG00000157538 MIM:605298; AllianceGenome:HGNC:3044
    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
    DCRA; DSCR3; DSCRA
    Summary
    The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 11.4), duodenum (RPKM 10.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See VPS26C in Genome Data Viewer
    Location:
    21q22.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37223420..37268108, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35605645..35650315, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38595721..38640409, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:38567734-38568933 Neighboring gene TTC3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38579468-38580304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18445 Neighboring gene RNA, 7SL, cytoplasmic 678, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18446 Neighboring gene Down syndrome critical region 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38629775-38630367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38630368-38630960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38655347-38656273 Neighboring gene uncharacterized LOC124905018 Neighboring gene uncharacterized LOC124905019

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-04-24)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-04-24)

    ClinGen Genome Curation Page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC117385

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    vacuolar protein sorting-associated protein 26C
    Names
    DSCR3 arrestin fold containing
    Down syndrome critical region 3
    Down syndrome critical region gene 3
    Down syndrome critical region protein 3
    Down syndrome critical region protein A

    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_009410.2 RefSeqGene

      Range
      5774..49686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001331018.1NP_001317947.1  vacuolar protein sorting-associated protein 26C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK303624, AP001412, BX648191, D87343, DA311783, DB286372
      Consensus CDS
      CCDS82671.1
      UniProtKB/TrEMBL
      A8MY26
      Related
      ENSP00000381967.1, ENST00000399001.5
      Conserved Domains (1) summary
      cl22903
      Location:31158
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain
    2. NM_001331021.1NP_001317950.1  vacuolar protein sorting-associated protein 26C isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK303624, AP001412, AP001432, BX648191
      Consensus CDS
      CCDS82672.1
      UniProtKB/TrEMBL
      A8MTY9
      Related
      ENSP00000381964.1, ENST00000398998.1
      Conserved Domains (1) summary
      cl22903
      Location:7235
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain
    3. NM_001331022.1NP_001317951.1  vacuolar protein sorting-associated protein 26C isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK300024, AK303624, AP001412, BX648191, D87343, DA311783, DB286372
      Consensus CDS
      CCDS82673.1
      UniProtKB/TrEMBL
      B7Z606
      Related
      ENSP00000419496.1, ENST00000476950.5
      Conserved Domains (1) summary
      cl22903
      Location:1256
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain
    4. NM_006052.2NP_006043.1  vacuolar protein sorting-associated protein 26C isoform 1

      See identical proteins and their annotated locations for NP_006043.1

      Status: REVIEWED

      Source sequence(s)
      AP001412, AP001432
      Consensus CDS
      CCDS33553.1
      UniProtKB/Swiss-Prot
      B2R6T8, B7Z6B1, D3DSH4, O14972, Q2TAY6
      Related
      ENSP00000311399.6, ENST00000309117.11
      Conserved Domains (1) summary
      cl22903
      Location:1283
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      37223420..37268108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440658.1XP_047296614.1  vacuolar protein sorting-associated protein 26C isoform X1

    RNA

    1. XR_007067776.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      35605645..35650315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324301.1XP_054180276.1  vacuolar protein sorting-associated protein 26C isoform X1

    RNA

    1. XR_008485322.1 RNA Sequence