Protocadherin alpha 1

Protocadherin alpha-1 is a protein that in humans is encoded by the PCDHA1 gene.[5][6]

PCDHA1
Identifiers
Aliases	PCDHA1, PCDH-ALPHA1, Protocadherin alpha 1
External IDs	OMIM: 606307 MGI: 2150982 HomoloGene: 75093 GeneCards: PCDHA1
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.3 Start 140,786,136 bp[1] End 141,012,347 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 B2- B3 Start 37,063,237 bp[2] End 37,320,714 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex superior frontal gyrus islet of Langerhans Brodmann area 9 cerebellum cerebellar cortex nucleus accumbens cerebellar hemisphere substantia nigra hypothalamus Top expressed in enteric nervous system hippocampus proper olfactory bulb hypothalamus cerebellum cerebellar cortex superior frontal gyrus neural tube testicle mesencephalon More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane extracellular region integral component of plasma membrane membrane plasma membrane endoplasmic reticulum Biological process cell adhesion nervous system development homophilic cell adhesion via plasma membrane adhesion molecules cell-cell signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56147 116731 Ensembl ENSG00000204970 ENSMUSG00000103442 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 Mb Chr 18: 37.06 – 37.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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.[6]