PCDHGA1 - protocadherin gamma subfamily A, 1 Gene

Also Known as PCDH-GAMMA-A1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56114

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