• Gene id: 5816

Gene Summary

• Gene Symbol: PVALB   Gene   UCSC   Ensembl
• Aliases: D22S749
• Gene name: parvalbumin
• Alternate names: parvalbumin alpha,
• Gene location: 22q12.3 (36819498: 36800702)     Exons: 5     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 611539

Protein Summary

• Protein general information: P20472  
  • Name: Parvalbumin alpha
  • Length: 110  
  • Mass: 12059
• Sequence:

  MSMTDLLNAEDIKKAVGAFSATDSFDHKKFFQMVGLKKKSADDVKKVFHMLDKDKSGFIEEDELGFILKGFSPDA
  RDLSAKETKMLMAAGDKDGDGKIGVDEFSTLVAES

• Structural information:
  • Protein Domains: (39..7-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (78..11-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR008080  
  • Prosite: PS00018 PS50222
  • PDB: 1RJV 1RK9
  • PDBsum: 1RJV 1RK9
  • STRING: ENSP00000216200
• Other Databases: GeneCards:  PVALB  Malacards:  PVALB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0090102	cochlea development	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0032437	cuticular plate	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray