PCDHGB1
Protocadherin gamma-B1
Also known as: PCDGD_HUMAN, PCDH-GAMMA-B1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5G3
- Gene
- PCDHGB1
- Ensembl
- ENSG00000254221
- Chromosome
- 5
- Canonical length
- 927 aa
- Protein class
- Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Vesicles,Plasma membrane,Focal adhesion sites,Midbody
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
927 residues, UniProt reviewed canonical sequence.
>Q9Y5G3|PCDHGB1
1 MQRAREAEMM KSQVLFPFLL SLFCGAISQQ IRYTIPEELA NGSRVGKLAK DLGLSVRELP
61 TRKLRVSAED YFNVSLESGD LLVNGRIDRE KICGRKLECA LEFETVAENP MNVFHVVVVI
121 QDINDNAPRF VAKGIDLEIC ESALPGVKFS LDSAQDADVE GNSLKLYTIN PNQYFSLSTK
181 ESPDGSKYPV LLLEKPLDRE HQSSHRLILT AMDGGDPPLS GTTHIWIRVT DANDNAPVFS
241 QEVYRVSLQE NVPWGTSVLR VMATDQDEGI NAEITYAFLN SPISTSLFNL NPNTGDITTN
301 GTLDFEETSR YVLSVEAKDG GVHTAHCNVQ IEIVDENDNA PEVTFMSFSN QIPEDSDLGT
361 VIALIKVRDK DSGQNGMVTC YTQEEVPFKL ESTSKNYYKL VIAGALNREQ TADYNVTIIA
421 TDKGKPALSS RTSITLHISD INDNAPVFHQ ASYVVHVSEN NPPGASIAQV SASDPDLGPN
481 GRVSYSILAS DLEPRELLSY VSVSPQSGVV FAQRAFDHEQ LRAFELTLQA RDQGSPALSA
541 NVSLRVLVGD LNDNAPRVLY PALGPDGSAL FDMVPRAAEP GYLVTKVVAV DADSGHNAWL
601 SYHVLQASEP GLFSLGLRTG EVRTARALGD RDAARQRLLV AVRDGGQPPL SATATLHLIF
661 ADSLQEVLPD LSDRPEPSDP QTELQFYLVV ALALISVLFL LAVILAIALR LRRSSSLDTE
721 GCFQTGLCSK SGPGVPPNHS EGTLPYSYNL CIASHSAKTE FNSLNLTPEM APPQDLLCDD
781 PSMVVCASNE DHKIAYDPSL SSHQAPPNTD WRFSQAQRPG TSGSQNGDDT GTWPNNQFDT
841 EMLQAMILAS ASEAADGSST LGGGAGTMGL SARYGPQFTL QHVPDYRQNV YIPGSNATLT
901 NAAGKRDGKA PAGGNGNKKK SGKKEKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PCDHGB1 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
- 12 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 12 nTPM
- parathyroid gland: 2 nTPM
- amygdala: 1.9 nTPM
- basal ganglia: 1.8 nTPM
- retina: 1.5 nTPM
- hippocampal formation: 1.3 nTPM
Single-cell type
- bergmann glia: 1 nCPM
- astrocytes: 0.7 nCPM
- choroid plexus epithelial cells: 0.5 nCPM
- ependymal cells: 0.5 nCPM
- brain excitatory neurons: 0.3 nCPM
- oligodendrocyte progenitor cells: 0.3 nCPM
Immune cell
- naive CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- midbrain: 14 nTPM
- white matter: 14 nTPM
- hippocampal formation: 13 nTPM
- medulla oblongata: 12 nTPM
- spinal cord: 12 nTPM
- cerebellum: 11 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)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.1
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 PCDHGB1 as an antibody target. Whether an autoantibody or antibody against PCDHGB1 could matter depends on whether native PCDHGB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PCDHGB1 is annotated at the cell surface, where native PCDHGB1 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 PCDHGB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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