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Cpa6 carboxypeptidase A6 [ Mus musculus (house mouse) ]

Gene ID: 329093, updated on 27-Nov-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 ARF 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
  • 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)

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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_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