PCDHA13
Protocadherin alpha-13
Also known as: CNR5, CNRN5, CNRS5, CRNR5, PCDAD_HUMAN, PCDH-ALPHA13
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5I0
- Gene
- PCDHA13
- Ensembl
- ENSG00000239389
- Chromosome
- 5
- Canonical length
- 950 aa
- Protein class
- Predicted membrane proteins
OverviewNCBI Gene
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
950 residues, UniProt reviewed canonical sequence.
>Q9Y5I0|PCDHA13
1 MLSSWQGGPR PRQLLLWLLI LAAWETGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
61 PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVE
121 VKVRDINDNP PIFPESKKRI IIAESRPPET RFPLDGASDA DIGVNSALTY RLDPNDYFTL
181 DAQNSLEQMS SLSLVLRKTL DREEIQEHSL LLTASDGGKP ELTGTVQLLI TILDVNDNAP
241 EFYQSVYKVT VLENAFNGTL VIKLNATDPD DGTNGDIVYS FRRPVWPAVV YAFTINPNNG
301 EIRTKGKLDF EEKKLYEISV EAVDKGNIPM AGHCTLLVEV LDVNDNAPEV TITSLSLPIR
361 EDTQPSAIIA LISVSDRDSG SNGQVTCTLT PHVPFKLVST YKNYYSLVLD SALDRESVSA
421 YELVVTARDG GSPSLWATAS VSVGVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAQ
481 DADAQENALV SYSLVERRVG ERALSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDS
541 GVPPLGSNVT LQVFVLDEND NAPALLTPGA GSAGGTVSEL MPRSVGAGHV VAKVRAVDAD
601 SGYNAWLSYE LQLAAVGARI PFRVGLYTGE ISTTRPLDEV DAPHHRLLVL VKDHGEPALT
661 ATATVLLSLV ESGQAPQASS RASAGAVGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
721 LRCSAPPTEG ACAPGKPTLV CSSAAGSWSY SQQRRPRVCS GEGPHKTDLM AFSPSLPPCL
781 GSAEGTGQRE EDSECLKEPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
841 TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
901 QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PCDHA13 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)
- 0.44
- Highest tissue expression
- 3.3 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 3.3 nTPM
- cerebellum: 1.4 nTPM
- retina: 1 nTPM
- cerebral cortex: 0.7 nTPM
- amygdala: 0.5 nTPM
- basal ganglia: 0.5 nTPM
Single-cell type
- alveolar cells type 1: 0.1 nCPM
- corticotrophs: 0.1 nCPM
- late primary spermatocytes: 0.1 nCPM
- salivary acinar cells: 0.1 nCPM
- adipocytes: 0 nCPM
- adrenal cortex cells: 0 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 11 nTPM
- cerebral cortex: 5.2 nTPM
- white matter: 4.3 nTPM
- basal ganglia: 4 nTPM
- hypothalamus: 3.5 nTPM
- pons: 3.4 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)
- 1.16
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.13
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
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
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PCDHA13 as an antibody target. Whether an autoantibody or antibody against PCDHA13 could matter depends on whether native PCDHA13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PCDHA13 is annotated at the cell surface, where native PCDHA13 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 PCDHA13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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