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    CPA6 carboxypeptidase A6 [ Homo sapiens (human) ]

    Gene ID: 57094, updated on 2-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
    mouse all
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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 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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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