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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 56
  • 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 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]

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. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity and carboxypeptidase activity. An important paralog of this gene is CPB1.

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 (PubMed:18178555). Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine (PubMed:20855895).

Gene Wiki entry for CPA6 Gene

Additional gene information for CPA6 Gene

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

Genomics for CPA6 Gene

GeneHancer (GH) Regulatory Elements for CPA6 Gene

Promoters and enhancers for CPA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I067745 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 550.8 +0.2 203 1.1 ZNF316 VEZF1 MAFG FOS NFE2 MAFK EMSY CPA6 ENSG00000255130
GH08I067748 Enhancer 0.3 FANTOM5 550.8 -1.8 -1819 0.1 CPA6 NDUFS5P6
GH08I067503 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.2 +241.1 241112 3.1 BMI1 BATF IRF4 ATF7 ETV6 FOS BCLAF1 IKZF2 RUNX3 CBFB CPA6 LOC105375886 RPL17P31
GH08I067692 Enhancer 0.8 Ensembl ENCODE 11.1 +53.4 53379 1.8 ESRRA FOXA2 JUN JUND IKZF1 CREB1 FOS FOSL2 IKZF2 TRIM28 ENSG00000255130 CPA6 PIR45809
GH08I067718 Enhancer 0.5 ENCODE 11.6 +25.7 25739 4 FOSL1 GATA3 POU5F1 KDM1A ETS1 CPA6 ENSG00000255130 PIR45809
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CPA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CPA6 gene promoter:

Genomic Locations for CPA6 Gene

Genomic Locations for CPA6 Gene
chr8:67,422,038-67,746,571
(GRCh38/hg38)
Size:
324,534 bases
Orientation:
Minus strand
chr8:68,334,360-68,658,620
(GRCh37/hg19)

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:
    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;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK84941.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for CPA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPA6 Gene

Selected DME Specific Peptides for CPA6 Gene

Q8N4T0:
  • AFCQWFV
  • GIHAREW
  • FELRDTG
  • PESEPEV

Post-translational modifications for CPA6 Gene

  • Glycosylation at Asn89, Asn153, and Asn427

Other Protein References for CPA6 Gene

Domains & Families for CPA6 Gene

Gene Families for CPA6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

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 :
  • Belongs to the peptidase M14 family.
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 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 (PubMed:18178555). Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine (PubMed:20855895).

Enzyme Numbers (IUBMB) for CPA6 Gene

Phenotypes From GWAS Catalog for CPA6 Gene

Gene Ontology (GO) - Molecular Function for CPA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004181 metallocarboxypeptidase activity NAS 11836249
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CPA6: view
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

CRISPR Products

miRNA for CPA6 Gene

miRTarBase miRNAs that target CPA6

Inhibitory RNA Products

No data available for 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPA6 gene
Compartment Confidence
extracellular 4
mitochondrion 2
golgi apparatus 2
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CPA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IBA --
genes like me logo Genes that share ontologies with CPA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CPA6 Gene

Pathways & Interactions for CPA6 Gene

No Data Available

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 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, Investigational Pharma 2430

(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

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

Unigene Clusters for CPA6 Gene

Carboxypeptidase A6:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CPA6 Gene

NURSA nuclear receptor signaling pathways regulating expression of CPA6 Gene:

CPA6

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.

Evidence on tissue expression from TISSUES for CPA6 Gene

  • Eye(4.1)
  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CPA6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with CPA6: view

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
chimpanzee
(Pan troglodytes)
Mammalia CPA6 33 34
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia CPA6 33 34
  • 91.76 (n)
oppossum
(Monodelphis domestica)
Mammalia CPA6 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CPA6 33 34
  • 89.4 (n)
mouse
(Mus musculus)
Mammalia Cpa6 33 16 34
  • 86.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CPA6 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves CPA6 33 34
  • 77.81 (n)
lizard
(Anolis carolinensis)
Reptilia CPA6 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpa6 33
  • 69.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia cpa6-prov 33
zebrafish
(Danio rerio)
Actinopterygii LOC100002342 33
  • 67.16 (n)
cpa6 34
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3097 33
  • 42.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
ManyToMany
CSA.4459 34
  • 37 (a)
ManyToMany
Species where no ortholog for CPA6 was found in the sources mined by GeneCards:
  • 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

(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 Variation AA Info Type
rs10957393 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Temporal epilepsy, familial 67,624,235(-) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs114402678 conflicting-interpretations-of-pathogenicity, uncertain-significance, Febrile seizures, familial, 11, not specified, Febrile seizures, familial, 11 (FEB11) [MIM:614418] 67,483,797(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs138313759 uncertain-significance, benign, Temporal epilepsy, familial, not specified, Febrile seizures, familial, 11 67,434,104(-) T/A/C coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs138798669 benign, Febrile seizures, familial, 11 67,484,792(-) A/G genic_downstream_transcript_variant, intron_variant
rs139145929 likely-pathogenic, Seizure Disorders 67,434,148(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
dgv7236n100 CNV loss 25217958
dgv7237n100 CNV loss 25217958
esv2421618 CNV deletion 20811451
esv26383 CNV loss 19812545
esv2662574 CNV deletion 23128226
esv2664813 CNV deletion 23128226
esv2667205 CNV deletion 23128226
esv2737122 CNV deletion 23290073
esv2752263 CNV gain 17911159
nsv971662 CNV duplication 23825009
nsv967600 CNV duplication 23825009
nsv8359 CNV loss 18304495
nsv6240 CNV insertion 18451855
nsv515097 CNV loss 21397061
nsv442521 CNV loss 18776908
nsv437625 CNV loss 16327808
nsv1161768 CNV deletion 26073780
nsv1146168 CNV deletion 26484159
nsv1132153 CNV deletion 24896259
nsv1125433 OTHER inversion 24896259
esv3617513 CNV gain 21293372
esv3617512 CNV gain 21293372
esv3617509 CNV loss 21293372
esv3617506 CNV loss 21293372
esv3617505 CNV loss 21293372
esv3617504 CNV loss 21293372
esv3617503 CNV loss 21293372
esv3572804 CNV loss 25503493
esv3398526 CNV insertion 20981092
esv3303765 CNV mobile element insertion 20981092
esv2761195 CNV loss 21179565
esv2752264 CNV gain 17911159

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)

Additional Variant Information for CPA6 Gene

Human Gene Mutation Database (HGMD)
CPA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPA6

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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

UniProtKB/Swiss-Prot

CBPA6_HUMAN
  • 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).

Additional Disease Information for CPA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Characterization of carboxypeptidase A6, an extracellular matrix peptidase. (PMID: 18178555) Lyons PJ … Fricker LD (The Journal of biological chemistry 2008) 3 4 22 58
  2. A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. (PMID: 12454025) Pizzuti A … Dallapiccola B (Investigative ophthalmology & visual science 2002) 3 4 22 58
  3. Identification and characterization of three members of the human metallocarboxypeptidase gene family. (PMID: 11836249) Wei S … Fricker LD (The Journal of biological chemistry 2002) 2 3 4 58
  4. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. (PMID: 21922598) Salzmann A … Malafosse A (Human mutation 2012) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for CPA6 Gene

Sources for CPA6 Gene

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