Protocadherin alpha 1

Protocadherin alpha-1 is a protein that in humans is encoded by the PCDHA1 gene.[4][5]

PCDHA1
Identifiers
AliasesPCDHA1, PCDH-ALPHA1, Protocadherin alpha 1
External IDsOMIM: 606307 MGI: 2150982 HomoloGene: 75093 GeneCards: PCDHA1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q31.3Start140,786,136 bp[1]
End141,012,347 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

56147

116731

Ensembl

ENSG00000204970

n/a

UniProt

Q9Y5I3

n/a

RefSeq (mRNA)

NM_031411
NM_018900
NM_031410

NM_054072

RefSeq (protein)

NP_061723
NP_113598
NP_113599

n/a

Location (UCSC)Chr 5: 140.79 – 141.01 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined.[5]

References
  1. GRCh38: Ensembl release 89: ENSG00000204970 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. Wu Q, Maniatis T (Jul 1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi:10.1016/S0092-8674(00)80789-8. PMID 10380929.
  5. "Entrez Gene: PCDHA1 protocadherin alpha 1".

Further reading


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