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    PVALB parvalbumin [ Homo sapiens (human) ]

    Gene ID: 5816, updated on 27-Nov-2024

    Summary

    Official Symbol
    PVALBprovided by HGNC
    Official Full Name
    parvalbuminprovided by HGNC
    Primary source
    HGNC:HGNC:9704
    See related
    Ensembl:ENSG00000100362 MIM:168890; AllianceGenome:HGNC:9704
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PVALB in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36800703..36819499, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37256575..37275349, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37196747..37215543, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CACNG2 divergent transcript Neighboring gene uncharacterized LOC124905112 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37161913-37163112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13671 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:37171863-37172426 Neighboring gene intraflagellar transport 27 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:37172992-37173555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37194619-37195541 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:37203445-37204171 Neighboring gene NCF4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37267835-37268373 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:37275012-37275204 Neighboring gene neutrophil cytosolic factor 4 Neighboring gene uncharacterized LOC105373022

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC116759

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in excitatory chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inhibitory chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    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.

    mRNA and Protein(s)

    1. NM_001315532.2NP_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
      B2R4H7, P20472, P78378, Q4VB78, Q5R3Q9
      UniProtKB/TrEMBL
      B8ZZ19
      Related
      ENSP00000400247.2, ENST00000417718.7
      Conserved Domains (1) summary
      cd16254
      Location:9109
      EFh_parvalbumin_alpha; EF-hand, calcium binding motif, found in alpha-parvalbumin
    2. NM_002854.3NP_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, Z82185
      Consensus CDS
      CCDS13933.1
      UniProtKB/Swiss-Prot
      B2R4H7, P20472, P78378, Q4VB78, Q5R3Q9
      UniProtKB/TrEMBL
      B8ZZ19
      Related
      ENSP00000216200.5, ENST00000216200.9
      Conserved Domains (1) summary
      cd16254
      Location:9109
      EFh_parvalbumin_alpha; EF-hand, calcium binding motif, found in alpha-parvalbumin

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      36800703..36819499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187631.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      21490..40286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37256575..37275349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)