• Gene id: 56114

Gene Summary

• Gene Symbol: PCDHGA1   Gene   UCSC   Ensembl
• Aliases: PCDH-GAMMA-A1
• Gene name: protocadherin gamma subfamily A, 1
• Alternate names: protocadherin gamma-A1,
• Gene location: 5q31.3 (141330684: 141512978)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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 regul
• OMIM: 606288

Protein Summary

• Protein general information: Q9Y5H4  
  • Name: Protocadherin gamma A1 (PCDH gamma A1)
  • Length: 931  
  • Mass: 101226
• Sequence:

  MKIQKKLTGCSRLMLLCLSLELLLEAGAGNIHYSVPEETDKGSFVGNIAKDLGLQPQELADGGVRIVSRGRMPLF
  ALNPRSGSLITARRIDREELCAQSMPCLVSFNILVEDKMKLFPVEVEIIDINDNTPQFQLEELEFKMNEITTPGT
  RVSLPFGQDLDVGMNSLQSYQLSSNPHFSLDVQQGADGPQHPEMVLQSPLDREEEAVHHLILTASDGGEPVRSGT
  LRIYIQVVDANDNPPAFTQAQYHINVPENVPLGTQLLMVNATDPDEGANGEVTYSFHNVDHRVAQIFRLDSYTGE
  ISNKEPLDFEEYKMYSMEVQAQDGAGLMAKVKVLIKVLDVNDNAPEVTITSVTTAVPENFPPGTIIALISVHDQD
  SGDNGYTTCFIPGNLPFKLEKLVDNYYRLVTERTLDRELISGYNITITAIDQGTPALSTETHISLLVTDINDNSP
  VFHQDSYSAYIPENNPRGASIFSVRAHDLDSNENAQITYSLIEDTIQGAPLSAYLSINSDTGVLYALRSFDYEQF
  RDMQLKVMARDSGDPPLSSNVSLSLFLLDQNDNAPEILYPALPTDGSTGVELAPLSAEPGYLVTKVVAVDRDSGQ
  NAWLSYRLLKASEPGLFSVGLHTGEVRTARALLDRDALKQSLVVAVQDHGQPPLSATVTLTVAVADRISDILADL
  GSLEPSAKPNDSDLTLYLVVAAAAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGGLASMPGSHFVGVDGVRAFL
  QTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQQAPPNTDWRFSQAQRPGT
  SGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSN
  ATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK

• Structural information:
  • Protein Domains: (29..13-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (134..24-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (243..34-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR032455  IPR031904  IPR020894   IPR013164  IPR030736  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000431083
• Other Databases: GeneCards:  PCDHGA1  Malacards:  PCDHGA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007155	cell adhesion	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray