PCDHGA1
Protocadherin gamma-A1
Also known as: PCDG1_HUMAN, PCDH-GAMMA-A1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5H4
- Gene
- PCDHGA1
- Ensembl
- ENSG00000204956
- Chromosome
- 5
- Canonical length
- 931 aa
- Protein class
- Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Vesicles,Plasma membrane,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
931 residues, UniProt reviewed canonical sequence.
>Q9Y5H4|PCDHGA1
1 MKIQKKLTGC SRLMLLCLSL ELLLEAGAGN IHYSVPEETD KGSFVGNIAK DLGLQPQELA
61 DGGVRIVSRG RMPLFALNPR SGSLITARRI DREELCAQSM PCLVSFNILV EDKMKLFPVE
121 VEIIDINDNT PQFQLEELEF KMNEITTPGT RVSLPFGQDL DVGMNSLQSY QLSSNPHFSL
181 DVQQGADGPQ HPEMVLQSPL DREEEAVHHL ILTASDGGEP VRSGTLRIYI QVVDANDNPP
241 AFTQAQYHIN VPENVPLGTQ LLMVNATDPD EGANGEVTYS FHNVDHRVAQ IFRLDSYTGE
301 ISNKEPLDFE EYKMYSMEVQ AQDGAGLMAK VKVLIKVLDV NDNAPEVTIT SVTTAVPENF
361 PPGTIIALIS VHDQDSGDNG YTTCFIPGNL PFKLEKLVDN YYRLVTERTL DRELISGYNI
421 TITAIDQGTP ALSTETHISL LVTDINDNSP VFHQDSYSAY IPENNPRGAS IFSVRAHDLD
481 SNENAQITYS LIEDTIQGAP LSAYLSINSD TGVLYALRSF DYEQFRDMQL KVMARDSGDP
541 PLSSNVSLSL FLLDQNDNAP EILYPALPTD GSTGVELAPL SAEPGYLVTK VVAVDRDSGQ
601 NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
661 TVAVADRISD ILADLGSLEP SAKPNDSDLT LYLVVAAAAV SCVFLAFVIV LLAHRLRRWH
721 KSRLLQASGG GLASMPGSHF VGVDGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
781 SQESCEKKGF LSAPQSLLED KKEPFSQQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN
841 QFDTEMLQAM ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN
901 ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK KLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PCDHGA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 1.8 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 1.8 nTPM
- basal ganglia: 1.3 nTPM
- cerebellum: 1.2 nTPM
- heart muscle: 1.1 nTPM
- retina: 1 nTPM
- epididymis: 0.9 nTPM
Single-cell type
- corticotrophs: 24 nCPM
- lactotrophs: 21 nCPM
- thyrotrophs: 20 nCPM
- somatotrophs: 14 nCPM
- sertoli cells: 14 nCPM
- cardiomyocytes: 13 nCPM
Immune cell
- basophil: 0.4 nTPM
- neutrophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebellum: 10 nTPM
- basal ganglia: 8.2 nTPM
- hippocampal formation: 7.9 nTPM
- cerebral cortex: 7.5 nTPM
- spinal cord: 7 nTPM
- medulla oblongata: 6.7 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.89
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.05
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell adhesion
- homophilic cell adhesion via plasma membrane adhesion molecules
- nervous system development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cadherin-like
- Cadherin, N-terminal
- Cadherin-like superfamily
- Cadherin conserved site
- Cadherin, C-terminal catenin-binding domain
- Cadherin, cytoplasmic C-terminal domain
- Protocadherin/Cadherin-related Cell Adhesion
- Cadherin domain
- Cadherin-like
- Cadherin C-terminal cytoplasmic tail, catenin-binding region
- Cadherin cytoplasmic C-terminal
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PCDHGA1 as an antibody target. Whether an autoantibody or antibody against PCDHGA1 could matter depends on whether native PCDHGA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PCDHGA1 is annotated at the cell surface, where native PCDHGA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PCDHGA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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