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CPA6 carboxypeptidase A6 [ Homo sapiens (human) ]

Gene ID: 57094, updated on 24-Nov-2020

Summary

Official Symbol
CPA6provided by HGNC
Official Full Name
carboxypeptidase A6provided by HGNC
Primary source
HGNC:HGNC:17245
See related
Ensembl:ENSG00000165078 MIM:609562
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

See CPA6 in Genome Data Viewer
Location:
8q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (67422038..67747114, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (68334405..68658620, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr8.1934 Neighboring gene ARFGEF1 divergent transcript Neighboring gene ribosomal protein L17 pseudogene 31 Neighboring gene uncharacterized LOC105375886 Neighboring gene MT-ND4L pseudogene 27 Neighboring gene MT-ATP6 pseudogene 12 Neighboring gene NACA pseudogene 10 Neighboring gene MT-CYB pseudogene 30 Neighboring gene MT-ND6 pseudogene 30 Neighboring gene MT-ND5 pseudogene 44 Neighboring gene MT-ND4 pseudogene 39 Neighboring gene MT-CO3 pseudogene 3 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 6 Neighboring gene phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 Neighboring gene uncharacterized LOC105375888

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Epilepsy, familial temporal lobe, 5
MedGen: C3280730 OMIM: 614417 GeneReviews: Not available
Compare labs
Febrile seizures, familial, 11
MedGen: C3280734 OMIM: 614418 GeneReviews: Not available
Compare labs
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
GeneReviews: Not available
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
carboxypeptidase A6
Names
carboxypeptidase B
NP_065094.3
XP_011515872.1
XP_016869135.1
XP_016869136.1

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_020361.5NP_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
    Related
    ENSP00000297770.4, ENST00000297770.10
    Conserved Domains (2) summary
    cd03872
    Location:138436
    M14_CPA6; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A6 subgroup
    pfam02244
    Location:44118
    Propep_M14; Carboxypeptidase activation peptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    67422038..67747114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517570.2XP_011515872.1  carboxypeptidase A6 isoform X1

    Conserved Domains (1) summary
    cl11393
    Location:1288
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
  2. XM_017013646.1XP_016869135.1  carboxypeptidase A6 isoform X1

    Conserved Domains (1) summary
    cl11393
    Location:1288
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
  3. XM_017013647.1XP_016869136.1  carboxypeptidase A6 isoform X2

RNA

  1. XR_001745565.1 RNA Sequence

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.
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