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Aliases for CPA6 Gene

Aliases for CPA6 Gene

  • Carboxypeptidase A6 2 3
  • CPAH 3 4 6
  • FEB11 3 6
  • ETL5 3 6
  • Carboxypeptidase B 3
  • EC 3.4.17.- 4
  • EC 3.4.17 63

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. 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

Genomic Location for CPA6 Gene

Start:
67,422,125 bp from pter
End:
67,746,385 bp from pter
Size:
324,261 bases
Orientation:
Minus strand

Genomic View for CPA6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q8N4T0-CBPA6_HUMAN
    Recommended name:
    Carboxypeptidase A6
    Protein Accession:
    Q8N4T0
    Secondary Accessions:
    • Q8NEX8
    • Q8TDE8
    • Q9NRI9

    Protein attributes for CPA6 Gene

    Size:
    437 amino acids
    Molecular mass:
    51008 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CPA6 Gene

    UniProtKB/Swiss-Prot:

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 Asn89, Asn153, and Asn427
  • Modification sites at PhosphoSitePlus

Other Protein References for CPA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains 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

Q8N4T0

UniProtKB/Swiss-Prot:

CBPA6_HUMAN :
  • Q8N4T0
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

Gene Ontology (GO) - Molecular Function for CPA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity --
GO:0004181 metallocarboxypeptidase activity NAS 11836249
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with CPA6: view

Animal Model Products

miRNA for CPA6 Gene

miRTarBase miRNAs that target CPA6

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CPA6

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for CPA6 Gene COMPARTMENTS Subcellular localization image for CPA6 gene
Compartment Confidence
extracellular 5
golgi apparatus 2
mitochondrion 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CPA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
genes like me logo Genes that share ontologies with CPA6: view

Pathways for CPA6 Gene

SuperPathways for CPA6 Gene

No Data Available

Interacting Proteins for CPA6 Gene

Gene Ontology (GO) - Biological Process for CPA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with CPA6: view

No data available for Pathways by source for CPA6 Gene

Compounds for CPA6 Gene

(5) HMDB Compounds for CPA6 Gene

Compound Synonyms Cas Number PubMed IDs
Kinetensin
  • Ile-Ala-Arg-Arg-His-Pro-Tyr-Phe-Leu
103131-69-7
Kinetensin 1-8
  • Ile-Ala-Arg-Arg-His-Pro-Tyr-Phe
51833-69-3
Neuromedin N
  • Ile-Pro-Tyr-Ile-Leu
102577-25-3
Neuromedin N (1-4)
  • Ile-Pro-Tyr-Ile
Not Available
Zinc
  • Zinc
7440-66-6

(11) Novoseek inferred chemical compound relationships for CPA6 Gene

Compound -log(P) Hits PubMed IDs
epsilon aminocaproic acid 78.6 7
deae-sephadex a-25 74.6 1
lysine 70.3 17
trypsinogen 64.5 7
c-peptide 44.9 4
genes like me logo Genes that share compounds with CPA6: view

Transcripts for CPA6 Gene

mRNA/cDNA for CPA6 Gene

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

Unigene Clusters for CPA6 Gene

Carboxypeptidase A6:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CPA6

Primer Products

Flow Cytometry Products

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: -
SP2:
SP3: - - - -

Relevant External Links for CPA6 Gene

GeneLoc Exon Structure for
CPA6
ECgene alternative splicing isoforms for
CPA6

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 (10.7), Vagina (8.7), Bladder (6.1), and Colon - Transverse (6.0).

Protein differential expression in normal tissues for CPA6 Gene

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

Integrated Proteomics: protein expression 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

Q8N4T0-CBPA6_HUMAN
Tissue specificity: Expressed in the hippocampus, nucleus raphe, and cortex.
genes like me logo Genes that share expressions with CPA6: view

Expression partners for CPA6 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia CPA6 35
  • 89.4 (n)
  • 88.56 (a)
CPA6 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CPA6 35
  • 91.76 (n)
  • 91.53 (a)
CPA6 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cpa6 35
  • 86.35 (n)
  • 84.44 (a)
Cpa6 16
Cpa6 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CPA6 35
  • 99.85 (n)
  • 99.54 (a)
CPA6 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CPA6 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPA6 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves CPA6 35
  • 77.81 (n)
  • 82.58 (a)
CPA6 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CPA6 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpa6 35
  • 69.17 (n)
  • 68.78 (a)
African clawed frog
(Xenopus laevis)
Amphibia cpa6-prov 35
zebrafish
(Danio rerio)
Actinopterygii LOC100002342 35
  • 67.16 (n)
  • 69.29 (a)
cpa6 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3097 35
  • 42.94 (n)
  • 35.45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
ManyToMany
CSA.4459 36
  • 37 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for CPA6 (if available)
TreeFam:
Gene Tree for CPA6 (if available)

Paralogs for CPA6 Gene

Paralogs for CPA6 Gene

Selected 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 MAF
rs3395 -- 67,422,176(+) CCTAA(C/T)TGAGG utr-variant-3-prime
rs188083 -- 67,463,052(-) ATAAT(C/T)CTTAA intron-variant
rs370880 -- 67,609,113(+) TCCTT(C/T)TGTGA intron-variant
rs375774 -- 67,639,090(+) GCAGA(A/C)TTAGG intron-variant
rs379025 -- 67,614,311(+) acatg(G/T)tctgc intron-variant

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

Relevant External Links for CPA6 Gene

HapMap Linkage Disequilibrium report
CPA6
Human Gene Mutation Database (HGMD)
CPA6

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

Disorders for CPA6 Gene

(2) OMIM Diseases for CPA6 Gene (609562)

UniProtKB/Swiss-Prot

CBPA6_HUMAN
  • Note=A chromosomal aberration involving CPA6 was found in a patient with Duane retraction syndrome. Translocation t(6;8)(q26;q13).
  • 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.

(1) University of Copenhagen DISEASES for CPA6 Gene

(3) Novoseek inferred disease relationships for CPA6 Gene

Disease -log(P) Hits PubMed IDs
acute pancreatitis 54.2 10
pancreatitis 9.81 1
alzheimers disease 0 1

Relevant External Links for CPA6

Genetic Association Database (GAD)
CPA6
Human Genome Epidemiology (HuGE) Navigator
CPA6
genes like me logo Genes that share disorders with CPA6: view

No data available for Genatlas for CPA6 Gene

Publications for CPA6 Gene

  1. 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 4 23
  2. Characterization of carboxypeptidase A6, an extracellular matrix peptidase. (PMID: 18178555) Lyons P.J. … Fricker L.D. (J. Biol. Chem. 2008) 3 4 23
  3. 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
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for CPA6 Gene

Sources for CPA6 Gene

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