Calbindin 1

Calbindin 1 is a protein that in humans is encoded by the CALB1 gene. It belongs to the calbindin family of calcium-binding proteins, along with calretinin (CALB2). [5]

CALB1
Identifiers
AliasesCALB1, CALB, D-28K, calbindin 1
External IDsOMIM: 114050 MGI: 88248 HomoloGene: 21026 GeneCards: CALB1
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8q21.3Start90,058,608 bp[1]
End90,095,475 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

793

12307

Ensembl

ENSG00000104327

ENSMUSG00000028222

UniProt

P05937

P12658

RefSeq (mRNA)

NM_004929
NM_001366795

NM_009788

RefSeq (protein)

NP_004920
NP_001353724

NP_033918

Location (UCSC)Chr 8: 90.06 – 90.1 MbChr 4: 15.88 – 15.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability.[6] This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015].

References

  1. GRCh38: Ensembl release 89: ENSG00000104327 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000028222 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Calbindin 1". Retrieved 2018-10-04.
  6. Noble JW, Almalki R, Roe SM, Wagner A, Duman R, Atack JR (October 2018). "The X-ray structure of human calbindin-D28K: an improved model". Acta Crystallographica Section D. 74 (Pt 10): 1008–1014. doi:10.1107/s2059798318011610. PMC 6173056. PMID 30289411.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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