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PVALB parvalbumin [ Homo sapiens (human) ]

Gene ID: 5816, updated on 12-May-2019

Summary

Official Symbol
PVALBprovided by HGNC
Official Full Name
parvalbuminprovided by HGNC
Primary source
HGNC:HGNC:9704
See related
Ensembl:ENSG00000100362 MIM:168890
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

Genomic context

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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cochlea development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cuticular plate IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 
stereocilium IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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
    P20472
    UniProtKB/TrEMBL
    A0A024R1K9
    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_002854.2NP_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, 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: Homo sapiens Annotation Release 109

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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