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    PVALB parvalbumin [ Homo sapiens (human) ]

    Gene ID: 5816, updated on 8-Jul-2018
    Official Symbol
    PVALBprovided by HGNC
    Official Full Name
    parvalbuminprovided by HGNC
    Primary source
    HGNC:HGNC:9704
    See related
    Ensembl:ENSG00000100362 MIM:168890; Vega:OTTHUMG00000150547
    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
    D22S749
    Summary
    The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
    Expression
    Biased expression in kidney (RPKM 20.1) and brain (RPKM 2.2) See more
    Orthologs
    See PVALB in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (36800701..36819473, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37196745..37215517, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 2 Neighboring gene uncharacterized LOC105373021 Neighboring gene intraflagellar transport 27 Neighboring gene NCF4 antisense RNA 1 Neighboring gene uncharacterized LOC105373022 Neighboring gene neutrophil cytosolic factor 4

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of female sexual dysfunction.
    NHGRI GWA Catalog
    Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of parvalbumin (PVALB) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC116759

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    regulation of cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     

    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.

    mRNA and Protein(s)

    1. NM_001315532.1NP_001302461.1  parvalbumin alpha

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AV724364, DA054941, DA392417
      Consensus CDS
      CCDS13933.1
      UniProtKB/Swiss-Prot
      P20472
      UniProtKB/TrEMBL
      A0A024R1K9
      Related
      ENSP00000400247.2, OTTHUMP00000197805, ENST00000417718.6, OTTHUMT00000318858
      Conserved Domains (1) summary
      cd16254
      Location:9109
      EFh_parvalbumin_alpha; EF-hand, calcium binding motif, found in alpha-parvalbumin
    2. NM_002854.2NP_002845.1  parvalbumin alpha

      See identical proteins and their annotated locations for NP_002845.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA771973, AI262242, BC069300
      Consensus CDS
      CCDS13933.1
      UniProtKB/Swiss-Prot
      P20472
      UniProtKB/TrEMBL
      A0A024R1K9
      Related
      ENSP00000216200.5, OTTHUMP00000197804, ENST00000216200.9, OTTHUMT00000318857
      Conserved Domains (1) summary
      cd16254
      Location:9109
      EFh_parvalbumin_alpha; EF-hand, calcium binding motif, found in alpha-parvalbumin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

      Range
      36800701..36819473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187631.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      21488..40260 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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