CPA6

Protein identityUniProt · HPA

UniProt accession

Q8N4T0

Gene

CPA6

Ensembl

ENSG00000165078

Chromosome

8

Canonical length

437 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]

Canonical amino-acid sequenceUniProt

437 residues, UniProt reviewed canonical sequence.

>Q8N4T0|CPA6
     1  MKCLGKRRGQ AAAFLPLCWL FLKILQPGHS HLYNNRYAGD KVIRFIPKTE EEAYALKKIS
    61  YQLKVDLWQP SSISYVSEGT VTDVHIPQNG SRALLAFLQE ANIQYKVLIE DLQKTLEKGS
   121  SLHTQRNRRS LSGYNYEVYH SLEEIQNWMH HLNKTHSGLI HMFSIGRSYE GRSLFILKLG
   181  RRSRLKRAVW IDCGIHAREW IGPAFCQWFV KEALLTYKSD PAMRKMLNHL YFYIMPVFNV
   241  DGYHFSWTND RFWRKTRSRN SRFRCRGVDA NRNWKVKWCD EGASMHPCDD TYCGPFPESE
   301  PEVKAVANFL RKHRKHIRAY LSFHAYAQML LYPYSYKYAT IPNFRCVESA AYKAVNALQS
   361  VYGVRYRYGP ASTTLYVSSG SSMDWAYKNG IPYAFAFELR DTGYFGFLLP EMLIKPTCTE
   421  TMLAVKNITM HLLKKCP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CPA6 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

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

2.6 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CPA6.

Disease | AllUniProt

Conditions CPA6 is implicated in, by any mechanism.

• Epilepsy, familial temporal lobe, 5 (ETL5) MIM:614417
• Febrile seizures, familial, 11 (FEB11) MIM:614418

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 251 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• CPA6-related disorder
• Intellectual disability
• Febrile seizures, familial, 11

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)

1.24

gnomAD pLI

0

gnomAD missense Z

-0.49

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• proteolysis

Molecular functions

• metallocarboxypeptidase activity
• zinc ion binding

Cellular components

• extracellular space

Protein domainsUniProt · Pfam · InterPro

• Peptidase M14, carboxypeptidase A
• Carboxypeptidase, activation peptide
• Metallocarboxypeptidase-like, propeptide
• Zinc carboxypeptidases, zinc-binding region 2
• Zinc carboxypeptidase
• Carboxypeptidase activation peptide
• Carboxypeptidase A6

KeywordsUniProt

• Carboxypeptidase
• Chromosomal rearrangement
• Cleavage on pair of basic residues
• Disulfide bond
• Epilepsy
• Extracellular matrix
• Glycoprotein
• Hydrolase
• Metal-binding
• Metalloprotease
• Protease
• Secreted
• Signal
• Zinc
• Zymogen