PCDHAC1
Protocadherin alpha-C1
Also known as: PCDC1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H158
- Gene
- PCDHAC1
- Ensembl
- ENSG00000248383
- Chromosome
- 5
- Canonical length
- 963 aa
- Protein class
- Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Vesicles
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
963 residues, UniProt reviewed canonical sequence.
>Q9H158|PCDHAC1
1 MVGCGVAVLC LWVSCGAAAG QLEYSVPEET ERGVAVGNLS ADLRLPAAAM SSRNFRFLSS
61 HRELYFGVDL PSGNLVVREP ADREQLCRAK AACVLTYDLV LEDPLELHKI RIHVLDTNDN
121 SPLFPAGDVQ LHIPEFLTPG ARFTLPNAQD DDEGSNGILS YSLSPSQHFR LDMGSRVDGS
181 EYPELVLEKA LDREQRATHL LVLTARDGGL PARSGDAQVT IIVVDTNDNA PVFERSVYRT
241 KVPETAPNGT VLFRVQALDP DEGSNGEVQY SLSNSTQAEL RHRFHVHPKS GEVQVAASLG
301 PPETLLEAYI EARDEGVFGL ASTAKLLVEV TDVNDHAPEL DFLTLSNPVP EDAAPGTVIA
361 LFSVKDEDLD SNGRVICGMS SAGPFQLTAS FDNYYSLLID GPLDREQISE YQVLITASDS
421 GSPPLSTRRT ITVSVADVND NTPNFPQPQQ ELFVAENNGP GASLGRVFAQ DPDLGKNGLV
481 SYELLDVISE GPSASSLLAV ESSSGAITAK TSFDFEQLRG FHFQVEGRDG GIPPRSATVT
541 INLFVVDRND NYPVILFPLP RNGSVPVEIV PRSARTGHLV TKVVAEDADS GSNAWLSYHI
601 SRASDSSLFR ISANIGELRT ARLVLPTDAV KQRVVVVVRD HGDPPLSSSV TLGVLLSNSV
661 PQLLPDFEDV WEPGGQLSAQ NLYLVIALAC ISFLFLGCLL FFVCTKLHQS PGCCAQSCCR
721 STEDLRYGSK MVSNPCMTSA TIDVTTVERL SQTYLYRASL GLGSDNNSLL LRGEYNAADL
781 RNLATGVGLN LPISCIQIRN RKGDHANVNA MPRQPNPDWR YSASLRAGMH SSVHLEEAGI
841 LRAGPGGPDQ QWPTVSSATP EPEAGEVSPP VGAGVNSNSW TFKYGPGNPK QSGPGELPDK
901 FIIPGSPAII SIRQEPTNSQ IDKSDFITFG KKEETKKKKK KKKGNKTQEK KEKGNSTTDN
961 SDQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PCDHAC1 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)
- 0.43
- Highest tissue expression
- 28 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 28 nTPM
- lymph node: 1.1 nTPM
- pancreas: 1.1 nTPM
- cerebral cortex: 1 nTPM
- gallbladder: 0.9 nTPM
- thyroid gland: 0.8 nTPM
Single-cell type
- alveolar cells type 1: 0.1 nCPM
- alveolar cells type 2: 0.1 nCPM
- early primary spermatocytes: 0.1 nCPM
- adipocytes: 0 nCPM
- adrenal cortex cells: 0 nCPM
- adrenal medulla 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: 13 nTPM
- midbrain: 11 nTPM
- pons: 8.7 nTPM
- cerebral cortex: 5.9 nTPM
- medulla oblongata: 5.8 nTPM
- thalamus: 5.5 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)
- 1.02
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.01
- DepMap mean gene effect
- -0.06
- 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 PCDHAC1 as an antibody target. Whether an autoantibody or antibody against PCDHAC1 could matter depends on whether native PCDHAC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PCDHAC1 is annotated at the cell surface, where native PCDHAC1 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 PCDHAC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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