Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CPA6 Gene

Aliases for CPA6 Gene

  • Carboxypeptidase A6 2 3 5
  • CPAH 3 4
  • Carboxypeptidase B 3
  • EC 3.4.17.- 4
  • EC 3.4.17 63
  • FEB11 3
  • ETL5 3

External Ids for CPA6 Gene

Previous GeneCards Identifiers for CPA6 Gene

  • GC08M068273
  • GC08M068057
  • GC08M068384
  • GC08M068496
  • GC08M063826

Summaries for CPA6 Gene

Entrez Gene Summary for CPA6 Gene

  • The protein encoded by this gene belongs to the family of carboxypeptidases, which catalyze the release of C-terminal amino acid, and have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Polymorphic variants and a reciprocal translocation t(6;8)(q26;q13) involving this gene, have been associated with Duane retraction syndrome.[provided by RefSeq, Sep 2010]

GeneCards Summary for CPA6 Gene

CPA6 (Carboxypeptidase A6) is a Protein Coding gene. Diseases associated with CPA6 include Epilepsy, Familial Temporal Lobe, 5 and Febrile Seizures, Familial, 11. GO annotations related to this gene include metallocarboxypeptidase activity and carboxypeptidase activity. An important paralog of this gene is CPA3.

UniProtKB/Swiss-Prot for CPA6 Gene

  • May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II.

Gene Wiki entry for CPA6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPA6 Gene

Genomics for CPA6 Gene

Regulatory Elements for CPA6 Gene

Enhancers for CPA6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CPA6 on UCSC Golden Path with GeneCards custom track

Genomic Location for CPA6 Gene

67,422,125 bp from pter
67,746,571 bp from pter
324,447 bases
Minus strand

Genomic View for CPA6 Gene

Genes around CPA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPA6 Gene

Proteins for CPA6 Gene

  • Protein details for CPA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Carboxypeptidase A6
    Protein Accession:
    Secondary Accessions:
    • Q8NEX8
    • Q8TDE8
    • Q9NRI9

    Protein attributes for CPA6 Gene

    437 amino acids
    Molecular mass:
    51008 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CPA6 Gene


neXtProt entry for CPA6 Gene

Proteomics data for CPA6 Gene at MOPED

Selected DME Specific Peptides for CPA6 Gene

Post-translational modifications for CPA6 Gene

  • Glycosylation at Asn 89, Asn 153, and Asn 427
  • Modification sites at PhosphoSitePlus

Other Protein References for CPA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CPA6 Gene

Gene Families for CPA6 Gene

Suggested Antigen Peptide Sequences for CPA6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M14 family.
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with CPA6: view

Function for CPA6 Gene

Molecular function for CPA6 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=266 uM for 3-(2-furyl)acryloyl-Phe-Phe {ECO:0000269 PubMed:20855895}; KM=100 uM for 3-(2-furyl)acryloyl-Phe-Tyr {ECO:0000269 PubMed:20855895}; KM=386 uM for 3-(2-furyl)acryloyl-Phe-Leu {ECO:0000269 PubMed:20855895}; KM=339 uM for 3-(2-furyl)acryloyl-Phe-Trp {ECO:0000269 PubMed:20855895}; KM=786 uM for 3-(2-furyl)acryloyl-Phe-Met {ECO:0000269 PubMed:20855895}; pH dependence: Optimum pH is 8. {ECO:0000269 PubMed:20855895};
UniProtKB/Swiss-Prot CatalyticActivity:
Release of a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and only very weak activity toward small amino acids and histidine.
UniProtKB/Swiss-Prot Function:
May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II.

Enzyme Numbers (IUBMB) for CPA6 Gene

genes like me logo Genes that share phenotypes with CPA6: view

Human Phenotype Ontology for CPA6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CPA6

miRNA for CPA6 Gene

miRTarBase miRNAs that target CPA6

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CPA6 Gene

Localization for CPA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPA6 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for CPA6 Gene COMPARTMENTS Subcellular localization image for CPA6 gene
Compartment Confidence
extracellular 4
cytosol 2
golgi apparatus 2
lysosome 2
mitochondrion 2
vacuole 2
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for CPA6 Gene

Pathways & Interactions for CPA6 Gene

SuperPathways for CPA6 Gene

No Data Available

Interacting Proteins for CPA6 Gene

Gene Ontology (GO) - Biological Process for CPA6 Gene


No data available for Pathways by source and SIGNOR curated interactions for CPA6 Gene

Drugs & Compounds for CPA6 Gene

(5) Drugs for CPA6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102

(7) Additional Compounds for CPA6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CPA6: view

Transcripts for CPA6 Gene

mRNA/cDNA for CPA6 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CPA6 Gene

Carboxypeptidase A6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CPA6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b
SP1: -
SP3: - - - -

Relevant External Links for CPA6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CPA6 Gene

mRNA expression in normal human tissues for CPA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPA6 Gene

This gene is overexpressed in Prostate (x10.7), Vagina (x8.7), Bladder (x6.1), and Colon - Transverse (x6.0).

Protein differential expression in normal tissues from HIPED for CPA6 Gene

This gene is overexpressed in Prostate (41.7) and Platelet (27.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CPA6 Gene

SOURCE GeneReport for Unigene cluster for CPA6 Gene Hs.658850

mRNA Expression by UniProt/SwissProt for CPA6 Gene

Tissue specificity: Expressed in the hippocampus, nucleus raphe, and cortex.
genes like me logo Genes that share expression patterns with CPA6: view

Protein tissue co-expression partners for CPA6 Gene

Primer Products

Orthologs for CPA6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CPA6 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CPA6 35
  • 89.4 (n)
  • 88.56 (a)
CPA6 36
  • 88 (a)
(Canis familiaris)
Mammalia CPA6 35
  • 91.76 (n)
  • 91.53 (a)
CPA6 36
  • 94 (a)
(Mus musculus)
Mammalia Cpa6 35
  • 86.35 (n)
  • 84.44 (a)
Cpa6 16
Cpa6 36
  • 84 (a)
(Pan troglodytes)
Mammalia CPA6 35
  • 99.85 (n)
  • 99.54 (a)
CPA6 36
  • 100 (a)
(Monodelphis domestica)
Mammalia CPA6 36
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia CPA6 36
  • 85 (a)
(Gallus gallus)
Aves CPA6 35
  • 77.81 (n)
  • 82.58 (a)
CPA6 36
  • 82 (a)
(Anolis carolinensis)
Reptilia CPA6 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cpa6 35
  • 69.17 (n)
  • 68.78 (a)
African clawed frog
(Xenopus laevis)
Amphibia cpa6-prov 35
(Danio rerio)
Actinopterygii LOC100002342 35
  • 67.16 (n)
  • 69.29 (a)
cpa6 36
  • 65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3097 35
  • 42.94 (n)
  • 35.45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
CSA.4459 36
  • 37 (a)
Species with no ortholog for CPA6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CPA6 Gene

Gene Tree for CPA6 (if available)
Gene Tree for CPA6 (if available)

Paralogs for CPA6 Gene

Paralogs for CPA6 Gene

(9) SIMAP similar genes for CPA6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CPA6: view

Variants for CPA6 Gene

Sequence variations from dbSNP and Humsavar for CPA6 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10957393 - 67,624,235(+) AATAA(A/G)TCTTA reference, missense, utr-variant-5-prime
rs17853192 - 67,509,533(+) AAAGA(C/G)ATCTT reference, missense
rs17343819 - 67,484,680(+) TTACA(C/T)TGGTC reference, missense
VAR_066946 Epilepsy, familial temporal lobe, 5 (ETL5)
rs114402678 Febrile seizures, familial, 11 (FEB11) 67,483,797(+) TATTG(A/G)CATCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CPA6 Gene

Variant ID Type Subtype PubMed ID
esv2752263 CNV Gain 17911159
esv2752264 CNV Gain 17911159
esv2664813 CNV Deletion 23128226
nsv6240 CNV Insertion 18451855
esv2662574 CNV Deletion 23128226
esv2737122 CNV Deletion 23290073
nsv437625 CNV Loss 16327808
nsv8359 CNV Loss 18304495
esv2667205 CNV Deletion 23128226
esv26383 CNV Loss 19812545
nsv442521 CNV CNV 18776908
esv2421618 CNV Deletion 20811451
nsv515097 CNV Loss 21397061
esv268044 CNV Insertion 20981092

Variation tolerance for CPA6 Gene

Residual Variation Intolerance Score: 54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.21; 93.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPA6 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPA6 Gene

Disorders for CPA6 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CPA6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CPA6 in MalaCards View complete list of genes associated with diseases


  • Epilepsy, familial temporal lobe, 5 (ETL5) [MIM:614417]: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. {ECO:0000269 PubMed:21922598}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Febrile seizures, familial, 11 (FEB11) [MIM:614418]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269 PubMed:21922598}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving CPA6 was found in a patient with Duane retraction syndrome. Translocation t(6;8)(q26;q13).

Relevant External Links for CPA6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CPA6: view

No data available for Genatlas for CPA6 Gene

Publications for CPA6 Gene

  1. Identification and characterization of three members of the human metallocarboxypeptidase gene family. (PMID: 11836249) Wei S. … Fricker L.D. (J. Biol. Chem. 2002) 2 3 4 67
  2. Characterization of carboxypeptidase A6, an extracellular matrix peptidase. (PMID: 18178555) Lyons P.J. … Fricker L.D. (J. Biol. Chem. 2008) 3 23
  3. A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. (PMID: 12454025) Pizzuti A. … Dallapiccola B. (Invest. Ophthalmol. Vis. Sci. 2002) 3 23
  4. Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy. (PMID: 25875328) Sapio M.R. … Salzmann A. (PLoS ONE 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for CPA6 Gene

Sources for CPA6 Gene