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    CPA5 carboxypeptidase A5 [ Homo sapiens (human) ]

    Gene ID: 93979, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CPA5provided by HGNC
    Official Full Name
    carboxypeptidase A5provided by HGNC
    Primary source
    HGNC:HGNC:15722
    See related
    Ensembl:ENSG00000158525 MIM:609561; AllianceGenome:HGNC:15722
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008]
    Expression
    Restricted expression toward testis (RPKM 7.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See CPA5 in Genome Data Viewer
    Location:
    7q32.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130344816..130374599)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131658548..131682444)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129984656..130008571)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene carboxypeptidase A4 Neighboring gene uncharacterized LOC105375503 Neighboring gene small nucleolar RNA U13 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129985848-129986818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129992089-129992735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130005327-130005828 Neighboring gene uncharacterized LOC105375504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130019942-130020463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26655 Neighboring gene carboxypeptidase A1 Neighboring gene centrosomal protein 41 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:130080543-130081297

    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. The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome. Bentley L, et al. J Med Genet, 2003 Apr. PMID 12676894, Free PMC Article
    2. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium. . Hum Mol Genet, 1998 Mar. PMID 9546821
    3. Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Bonora E, et al. Mol Psychiatry, 2002. PMID 11920156
    4. Identification and characterization of three members of the human metallocarboxypeptidase gene family. Wei S, et al. J Biol Chem, 2002 Apr 26. PMID 11836249
    5. A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells. Xie L, et al. PLoS Genet, 2012. PMID 23284306, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. mutation screening and imprinting analysis of candidate genes for autism in the 7q12 region.
      Title: Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region.
    Submit: New GeneRIF Correction

    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

    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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    Homology

    Clone Names

    • FLJ35969

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metallocarboxypeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 A5
    Names
    testicular tissue protein Li 32
    NP_001120913.1
    NP_001120914.1
    NP_001305152.1
    NP_525124.3
    XP_005250767.1
    XP_005250769.1
    XP_011515000.1
    XP_011515005.1
    XP_024302767.1
    XP_024302768.1
    XP_024302769.1
    XP_047276991.1
    XP_047276992.1
    XP_047276993.1
    XP_047276994.1
    XP_047276995.1
    XP_054215322.1
    XP_054215323.1
    XP_054215324.1
    XP_054215325.1
    XP_054215326.1
    XP_054215327.1
    XP_054215328.1
    XP_054215329.1
    XP_054215330.1
    XP_054215331.1
    XP_054215332.1
    XP_054215333.1

    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.

    mRNA and Protein(s)

    1. NM_001127441.2 → NP_001120913.1  carboxypeptidase A5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001120913.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 4 encode the same isoform (1).
      Source sequence(s)
      BC039362, BC053681, BK000187, KF495711
      Consensus CDS
      CCDS5819.1
      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    2. NM_001127442.2 → NP_001120914.1  carboxypeptidase A5 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001120914.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK131191, BC053681, BK000187
      Consensus CDS
      CCDS47713.1
      UniProtKB/Swiss-Prot
      Q8WXQ8
      Related
      ENSP00000393045.2, ENST00000431780.6
      Conserved Domains (2) summary
      pfam02244
      Location:44 → 116
      Propep_M14; Carboxypeptidase activation peptide
      cl11393
      Location:134 → 380
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

    3. NM_001318223.2 → NP_001305152.1  carboxypeptidase A5 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 4 encode the same isoform (1).
      Source sequence(s)
      AK315256, BC053681, BK000187
      Consensus CDS
      CCDS5819.1
      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Related
      ENSP00000418183.1, ENST00000461828.5
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    4. NM_080385.5 → NP_525124.3  carboxypeptidase A5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_525124.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform (1). Variants 1, 2, and 4 encode the same isoform.
      Source sequence(s)
      BC053681, BK000187
      Consensus CDS
      CCDS5819.1
      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Related
      ENSP00000417314.1, ENST00000474905.6
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      130344816..130374599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421035.1 → XP_047276991.1  carboxypeptidase A5 isoform X1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2

    2. XM_047421036.1 → XP_047276992.1  carboxypeptidase A5 isoform X1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2

    3. XM_024447000.2 → XP_024302768.1  carboxypeptidase A5 isoform X1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    4. XM_047421037.1 → XP_047276993.1  carboxypeptidase A5 isoform X1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2

    5. XM_024446999.2 → XP_024302767.1  carboxypeptidase A5 isoform X1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Related
      ENSP00000419025.2, ENST00000466363.6
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    6. XM_047421038.1 → XP_047276994.1  carboxypeptidase A5 isoform X2

    7. XM_005250710.2 → XP_005250767.1  carboxypeptidase A5 isoform X1

      See identical proteins and their annotated locations for XP_005250767.1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    8. XM_005250712.2 → XP_005250769.1  carboxypeptidase A5 isoform X1

      See identical proteins and their annotated locations for XP_005250769.1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    9. XM_024447001.2 → XP_024302769.1  carboxypeptidase A5 isoform X1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    10. XM_047421039.1 → XP_047276995.1  carboxypeptidase A5 isoform X3

    11. XM_011516703.2 → XP_011515005.1  carboxypeptidase A5 isoform X1

      See identical proteins and their annotated locations for XP_011515005.1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Related
      ENSP00000376907.3, ENST00000393213.7
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    12. XM_011516698.2 → XP_011515000.1  carboxypeptidase A5 isoform X1

      See identical proteins and their annotated locations for XP_011515000.1

      UniProtKB/Swiss-Prot
      G3V0G8, Q6ZNI6, Q86SE2, Q86XM3, Q8NA08, Q8WXQ8
      UniProtKB/TrEMBL
      A4D1M2, B2RCS8
      Related
      ENSP00000420237.1, ENST00000485477.5
      Conserved Domains (2) summary
      cd03870
      Location:134 → 434
      M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup
      pfam02244
      Location:48 → 117
      Propep_M14; Carboxypeptidase activation peptide

    RNA

    1. XR_007060171.1 RNA Sequence

    2. XR_007060172.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      131658548..131682444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359349.1 → XP_054215324.1  carboxypeptidase A5 isoform X1

    2. XM_054359352.1 → XP_054215327.1  carboxypeptidase A5 isoform X1

    3. XM_054359353.1 → XP_054215328.1  carboxypeptidase A5 isoform X1

    4. XM_054359356.1 → XP_054215331.1  carboxypeptidase A5 isoform X1

    5. XM_054359350.1 → XP_054215325.1  carboxypeptidase A5 isoform X1

    6. XM_054359347.1 → XP_054215322.1  carboxypeptidase A5 isoform X1

    7. XM_054359357.1 → XP_054215332.1  carboxypeptidase A5 isoform X2

    8. XM_054359351.1 → XP_054215326.1  carboxypeptidase A5 isoform X1

    9. XM_054359354.1 → XP_054215329.1  carboxypeptidase A5 isoform X1

    10. XM_054359358.1 → XP_054215333.1  carboxypeptidase A5 isoform X3

    11. XM_054359355.1 → XP_054215330.1  carboxypeptidase A5 isoform X1

    12. XM_054359348.1 → XP_054215323.1  carboxypeptidase A5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXQ8.1 GenPept UniProtKB/Swiss-Prot:Q8WXQ8

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