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    Cpa6 carboxypeptidase A6 [ Mus musculus (house mouse) ]

    Gene ID: 329093, updated on 28-Oct-2024

    Summary

    Official Symbol
    Cpa6provided by MGI
    Official Full Name
    carboxypeptidase A6provided by MGI
    Primary source
    MGI:MGI:3045348
    See related
    Ensembl:ENSMUSG00000042501 AllianceGenome:MGI:3045348
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    9030616D13Rik
    Summary
    This gene encodes a protein that belongs to the metallocarboxypeptidase family of proteins that catalyze the release of a C-terminal amino acid from the target protein. The encoded preproprotein undergoes proteolytic cleavage to yield the mature form which is thought to play a role in cell migration. In humans, this protein regulates neuropeptides in the brain and mutations in this gene are associated with a recessive familial form of febrile seizures and with temporal lobe epilepsy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
    Expression
    Biased expression in frontal lobe adult (RPKM 1.4), limb E14.5 (RPKM 0.6) and 5 other tissues See more
    Orthologs
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    Genomic context

    See Cpa6 in Genome Data Viewer
    Location:
    1 A2; 1 2.45 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (10366016..10790277, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (10295791..10720053, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E270 Neighboring gene STARR-seq mESC enhancer starr_00181 Neighboring gene COP9 signalosome subunit 5 Neighboring gene centrosome and spindle pole associated protein 1 Neighboring gene STARR-seq mESC enhancer starr_00182 Neighboring gene ADP ribosylation factor guanine nucleotide exchange factor 1 Neighboring gene STARR-seq mESC enhancer starr_00185 Neighboring gene heat shock protein 8 pseudogene Neighboring gene predicted gene, 25253 Neighboring gene STARR-seq mESC enhancer starr_00186 Neighboring gene STARR-seq mESC enhancer starr_00187 Neighboring gene STARR-seq mESC enhancer starr_00188 Neighboring gene predicted gene 15603 Neighboring gene STARR-seq mESC enhancer starr_00189 Neighboring gene STARR-seq mESC enhancer starr_00190 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 14 pseudogene Neighboring gene predicted gene 28659

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

    Markers

    Clone Names

    • MGC141282, 9030616D13Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metallocarboxypeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metallocarboxypeptidase activity IEA
    Inferred from Electronic Annotation
    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
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    carboxypeptidase A6
    Names
    metallocarboxypeptidase
    NP_001276426.1
    NP_808502.2
    XP_006495608.1
    XP_011236694.1
    XP_011236695.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001289497.2NP_001276426.1  carboxypeptidase A6 isoform 2

      See identical proteins and their annotated locations for NP_001276426.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks an in-frame portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC102426, AC102469, AC102613, AC162861
      UniProtKB/Swiss-Prot
      Q5U901
      Conserved Domains (1) summary
      cl11393
      Location:1261
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
    2. NM_177834.5NP_808502.2  carboxypeptidase A6 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_808502.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC102426, AC102469, AC102613, AC162861
      Consensus CDS
      CCDS14819.1
      UniProtKB/Swiss-Prot
      Q5U901, Q8BVD0
      UniProtKB/TrEMBL
      Q0VDR2
      Related
      ENSMUSP00000035435.7, ENSMUST00000035577.7
      Conserved Domains (2) summary
      pfam02244
      Location:44118
      Propep_M14; Carboxypeptidase activation peptide
      cl11393
      Location:138437
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      10366016..10790277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011238393.3XP_011236695.1  carboxypeptidase A6 isoform X3

      Conserved Domains (1) summary
      cl11393
      Location:1159
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
    2. XM_011238392.4XP_011236694.1  carboxypeptidase A6 isoform X1

      UniProtKB/TrEMBL
      Q0VDR2
      Conserved Domains (2) summary
      pfam02244
      Location:48119
      Propep_M14; Carboxypeptidase activation peptide
      cl11393
      Location:138382
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
    3. XM_006495545.5XP_006495608.1  carboxypeptidase A6 isoform X2

      Conserved Domains (2) summary
      pfam02244
      Location:48119
      Propep_M14; Carboxypeptidase activation peptide
      cl11393
      Location:138262
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins