1. Gene
  2. PCDHGA1 - protocadherin gamma subfamily A, 1 Gene

PCDHGA1 - protocadherin gamma subfamily A, 1 Gene

Homo sapiens

Also known as PCDH-GAMMA-A1

Gene ID: 56114 | Gene type: protein coding

About PCDHGA1

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,330,514-141,512,975 (from NCBI)

This gene has 2 transcripts (splice variants), 23 orthologues and 61 paralogues.

Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]

PCDHGA1 Products(2)

mRNA Protein Name
NM_018912.3 NP_061735.1 protocadherin gamma-A1 isoform 1 precursor
NM_031993.2 NP_114382.1 protocadherin gamma-A1 isoform 2 precursor

PCDHGA1 Protein Structure

Cadherin_2

Cadherin_2: Cadherin-like (30 - 112)

Cadherin

Cadherin: Cadherin domain (140 - 232)

Cadherin

Cadherin: Cadherin domain (247 - 338)

Cadherin

Cadherin: Cadherin domain (354 - 442)

Cadherin

Cadherin: Cadherin domain (457 - 549)

Cadherin

Cadherin: Cadherin domain (583 - 664)

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  • 931 a.a.
Protein Preferred Names Protein Names

protocadherin gamma-A1

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies

NEDGS

Developmental And Epileptic Encephalopathy 9

Efmr

Epileptic Encephalopathy, Early Infantile, 9

Eiee9

DEE9

Juberg-Hellman Syndrome

Epilepsy, Female-Restricted, With Mental Retardation

Developmental And Epileptic Encephalopathy, 9

Early Infantile Epileptic Encephalopathy 9

Early Infantile Female-Limited Epilecptic Encephalopathy

Female Restricted Epilepsy With Mental Retardation

Juberg Hellman Syndrome

Pcdh19-Related Female-Limited Epilepsy

Epilepsy And Intellectual Disability Limited To Females

Epilepsy, Female Restricted, With Intellectual Disability

Familial Epilepsy And Intellectual Disability Limited To Females

Female Restricted Epilepsy With Intellectual Delays

Pcdh19-Related Fle

Pcdh19-Related Infantile Epileptic Encephalopathy

Female Restricted Epilepsy With Intellectual Disability

Encephalopathy, Epileptic, Early Infantile, Type 9

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus PCDHGA1 MGD MGI:1935212
Rattus norvegicus PCDHGA1 RGD RGD:1590761