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CPA6 carboxypeptidase A6 [ Homo sapiens (human) ]

Gene ID: 57094, updated on 27-Nov-2024

Summary

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Official Symbol
CPA6provided by HGNC
Official Full Name
carboxypeptidase A6provided by HGNC
Primary source
HGNC:HGNC:17245
See related
Ensembl:ENSG00000165078 MIM:609562; AllianceGenome:HGNC:17245
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPAH; ETL5; FEB11
Summary
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]
Expression
Biased expression in prostate (RPKM 1.2), colon (RPKM 0.8) and 7 other tissues See more
Orthologs
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Genomic context

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See CPA6 in Genome Data Viewer
Location:
8q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (67422038..67746360, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67848501..68172795, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (68334273..68658595, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene centrosome and spindle pole associated protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68153855-68154652 Neighboring gene ARF guanine nucleotide exchange factor 1 Neighboring gene nucleophosmin 1 pseudogene 44 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68221915-68222570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68222571-68223225 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68255030-68255710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:68261316-68261816 Neighboring gene Sharpr-MPRA regulatory region 12286 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1934 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68281631-68282336 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68280925-68281630 Neighboring gene ARFGEF1 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:68293145-68293756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27499 Neighboring gene ribosomal protein L17 pseudogene 31 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:68424545-68425147 Neighboring gene uncharacterized LOC105375886 Neighboring gene MT-ATP6 pseudogene 12 Neighboring gene MT-ND4L pseudogene 27 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68552088-68552901 Neighboring gene MT-CYB pseudogene 30 Neighboring gene MT-ND5 pseudogene 44 Neighboring gene MT-ND6 pseudogene 30 Neighboring gene NACA pseudogene 10 Neighboring gene MT-ND4 pseudogene 39 Neighboring gene MT-CO3 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 5318 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68631627-68632132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:68632133-68632636 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:68632637-68633142 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:68633143-68633647 Neighboring gene Sharpr-MPRA regulatory region 913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:68644182-68644682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:68658421-68658921 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:68766696-68767468 Neighboring gene NANOG hESC enhancer GRCh37_chr8:68796257-68797054 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:68867393-68868063 Neighboring gene NANOG hESC enhancer GRCh37_chr8:68882966-68883467 Neighboring gene MPRA-validated peak7060 silencer Neighboring gene phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 Neighboring gene uncharacterized LOC105375888

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Carboxypeptidase A6 was identified and validated as a novel potential biomarker for predicting the occurrence of active ulcerative colitis. Wang H, et al. J Cell Mol Med, 2020 Aug. PMID 32570281, Free PMC Article
  2. A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. Pizzuti A, et al. Invest Ophthalmol Vis Sci, 2002 Dec. PMID 12454025
  3. Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy. Sapio MR, et al. PLoS One, 2015. PMID 25875328, Free PMC Article
  4. Substrate specificity of human carboxypeptidase A6. Lyons PJ, et al. J Biol Chem, 2010 Dec 3. PMID 20855895, Free PMC Article
  5. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. Salzmann A, et al. Hum Mutat, 2012 Jan. PMID 21922598

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Carboxypeptidase A6 suppresses the proliferation and invasion of colorectal cancer cells and is negatively regulated by miR-96-3p.
    Title: Carboxypeptidase A6 suppresses the proliferation and invasion of colorectal cancer cells and is negatively regulated by miR-96-3p.
  2. Carboxypeptidase A6 was identified and validated as a novel potential biomarker for predicting the occurrence of active ulcerative colitis.
    Title: Carboxypeptidase A6 was identified and validated as a novel potential biomarker for predicting the occurrence of active ulcerative colitis.
  3. CPA6 promotes the proliferation and migration of hepatocellular carcinoma by up-regulating AKT signaling pathway.
    Title: Carboxypeptidase A6 Promotes the Proliferation and Migration of Hepatocellular Carcinoma by Up-regulating AKT Signaling Pathway.
  4. Common variants in PRPF31 and CPA6 were associated with worse and better metformin response, respectively.
    Title: Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes.
  5. these mutations in CPA6 are deleterious and provide further evidence for the involvement of CPA6 mutations in the predisposition for several types of epilepsy.
    Title: Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
  6. Significantly higher levels of DNA methylation are found in the CPA6 promoter in focal epilepsy and febrile seizure patients.
    Title: Increased CPA6 promoter methylation in focal epilepsy and in febrile seizures.
  7. These results provide further evidence for the involvement of CPA6 mutations in human epilepsy.
    Title: Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.
  8. CPA6 mutatins are genetically linked to an autosomal recessive familial form of febrile seizures and temporal lobe epilepsy (TLE), and are associated with sporadic TLE cases.
    Title: Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
  9. Substrate specificity of human carboxypeptidase A6
    Title: Substrate specificity of human carboxypeptidase A6.
  10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial temporal lobe epilepsy 5
MedGen: C3280730 OMIM: 614417 GeneReviews: Not available
Compare labs
Febrile seizures, familial, 11
MedGen: C3280734 OMIM: 614418 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2019-09-04)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2019-09-04)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
EBI GWAS Catalog
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metallocarboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metallocarboxypeptidase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
carboxypeptidase A6
Names
carboxypeptidase B
NP_065094.3
XP_016869135.1
XP_016869136.1
XP_054216831.1
XP_054216832.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027682.1 RefSeqGene

    Range
    5026..329348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020361.5 → NP_065094.3  carboxypeptidase A6 preproprotein

    See identical proteins and their annotated locations for NP_065094.3

    Status: REVIEWED

    Source sequence(s)
    AC011037, BC033684, BI756197, BK000188, BP421438
    Consensus CDS
    CCDS6200.1
    UniProtKB/Swiss-Prot
    Q8N4T0, Q8NEX8, Q8TDE8, Q9NRI9
    Related
    ENSP00000297770.4, ENST00000297770.10
    Conserved Domains (2) summary
    cd03872
    Location:138 → 436
    M14_CPA6; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A6 subgroup
    pfam02244
    Location:44 → 118
    Propep_M14; Carboxypeptidase activation peptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    67422038..67746360 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013646.2 → XP_016869135.1  carboxypeptidase A6 isoform X1

    Conserved Domains (1) summary
    cl11393
    Location:1 → 288
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

  2. XM_017013647.2 → XP_016869136.1  carboxypeptidase A6 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    67848501..68172795 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360856.1 → XP_054216831.1  carboxypeptidase A6 isoform X1

  2. XM_054360857.1 → XP_054216832.1  carboxypeptidase A6 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001127445.1: Suppressed sequence

    Description
    NM_001127445.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N4T0.2 GenPept UniProtKB/Swiss-Prot:Q8N4T0

Gene LinkOut

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