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    VCX3A variable charge, X-linked 3A [ Homo sapiens (human) ]

    Gene ID: 51481, updated on 3-Sep-2017
    Official Symbol
    VCX3Aprovided by HGNC
    Official Full Name
    variable charge, X-linked 3Aprovided by HGNC
    Primary source
    HGNC:HGNC:18159
    See related
    Ensembl:ENSG00000169059 MIM:300533; Vega:OTTHUMG00000021097
    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
    VCX3; VCXA; VCX-A; VCX8R; VCX-8r
    Summary
    This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 27.7) See more
    Location:
    Xp22.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (6533618..6535118, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (6451659..6453159, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene microRNA 4770 Neighboring gene ribosomal protein S5 pseudogene 8 Neighboring gene pseudouridine 5'-phosphatase Neighboring gene uncharacterized LOC107987331 Neighboring gene ribosomal protein S27a pseudogene 17

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-10-12)

    ClinGen Genome Curation Page
    Triplosensitivity

    Dosage sensitivity unlikely (Last evaluated (2012-10-12)

    ClinGen Genome Curation Page

    Markers

    Clone Names

    • MGC118976, MGC125730, MGC125796

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    variable charge X-linked protein 3
    Names
    variable charge protein on X with eight repeats
    variably charged X-A
    variably charged protein X-A

    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_011539.1 RefSeqGene

      Range
      5001..6501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016379.3NP_057463.2  variable charge X-linked protein 3

      See identical proteins and their annotated locations for NP_057463.2

      Status: REVIEWED

      Source sequence(s)
      AC108684, AF167078, BC039722
      Consensus CDS
      CCDS35199.1
      UniProtKB/Swiss-Prot
      Q9NNX9
      Related
      ENSP00000370479.3, OTTHUMP00000022866, ENST00000381089.7, OTTHUMT00000055679
      Conserved Domains (1) summary
      pfam15231
      Location:1141
      VCX_VCY; Variable charge X/Y family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      6533618..6535118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724494.3XP_006724557.1  variable charge X-linked protein 3 isoform X1

      UniProtKB/TrEMBL
      E7ESE9
      Conserved Domains (1) summary
      pfam15231
      Location:1141
      VCX_VCY; Variable charge X/Y family

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      6482594..6484034 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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