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PVALB parvalbumin [ Homo sapiens (human) ]

Gene ID: 5816, updated on 26-May-2016
Official Symbol
PVALBprovided by HGNC
Official Full Name
parvalbuminprovided by HGNC
Primary source
HGNC:HGNC:9704
See related
Ensembl:ENSG00000100362 HPRD:01353; 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]
Orthologs
Location:
22q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105373021 Neighboring gene intraflagellar transport 27 Neighboring gene uncharacterized LOC105377201 Neighboring gene neutrophil cytosolic factor 4 Neighboring gene uncharacterized LOC105373022

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

Markers

Homology

Clone Names

  • MGC116759

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
protein complex IEA
Inferred from Electronic Annotation
more info
 
terminal bouton 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
    UniProtKB/Swiss-Prot
    P20472
    UniProtKB/TrEMBL
    A0A024R1K9
    Conserved Domains (2) summary
    cd00051
    Location:43108
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:50107
    EF-hand_7; EF-hand domain pair
  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, OTTHUMP00000197804, ENST00000216200, OTTHUMT00000318857
    Conserved Domains (2) summary
    cd00051
    Location:43108
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:50107
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006724285.1XP_006724348.1  

    Related
    ENSP00000400247, OTTHUMP00000197805, ENST00000417718, OTTHUMT00000318858
    Conserved Domains (2) summary
    cd00051
    Location:43108
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:50107
    EF-hand_7; EF-hand domain pair
  2. XM_011530288.1XP_011528590.1  

    See identical proteins and their annotated locations for XP_011528590.1

    Related
    ENSP00000384735, OTTHUMP00000197807, ENST00000406910, OTTHUMT00000318861
    Conserved Domains (2) summary
    cd00051
    Location:43102
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:50102
    EF-hand_7; EF-hand domain pair

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187631.1 Reference GRCh38.p2 ALT_REF_LOCI_1

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

mRNA and Protein(s)

  1. XM_006725404.1XP_006725467.1  

    Conserved Domains (2) summary
    cd00051
    Location:43108
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:50107
    EF-hand_7; EF-hand domain pair
  2. XM_011546901.1XP_011545203.1  

    See identical proteins and their annotated locations for XP_011545203.1

    Conserved Domains (2) summary
    cd00051
    Location:43102
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:50102
    EF-hand_7; EF-hand domain pair

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    37150960..37169738 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)