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    Ctsa cathepsin A [ Mus musculus (house mouse) ]

    Gene ID: 19025, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ctsaprovided by MGI
    Official Full Name
    cathepsin Aprovided by MGI
    Primary source
    MGI:MGI:97748
    See related
    Ensembl:ENSMUSG00000017760 AllianceGenome:MGI:97748
    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
    PPCA; Ppgb
    Summary
    This gene encodes a glycoprotein with deamidase, esterase and carboxypeptidase activities. The encoded protein associates with and provides a protective function to the lysosomal enzymes beta-galactosidase and neuraminidase. Deficiency of the related gene in humans results in galactosialidosis. The proprotein is processed into two shorter chains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in lung adult (RPKM 116.6), kidney adult (RPKM 99.9) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 H3; 2 85.27 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (164674792..164682952)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (164832872..164841032)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_06336 Neighboring gene zinc finger SWIM-type containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E6018 Neighboring gene spermatogenesis associated 25 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:164659262-164659371 Neighboring gene neuralized E3 ubiquitin protein ligase 2 Neighboring gene phospholipid transfer protein Neighboring gene STARR-seq mESC enhancer starr_06339 Neighboring gene RIKEN cDNA 4930445K14 gene Neighboring gene STARR-positive B cell enhancer ABC_E6019 Neighboring gene STARR-positive B cell enhancer ABC_E2059 Neighboring gene phosphorylated CTD interacting factor 1 Neighboring gene predicted gene, 46775

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Cathepsin A regulates pluripotency, proliferation and differentiation in mouse embryonic stem cells. Park S, et al. Cell Biochem Funct, 2021 Jan. PMID 32529664
    2. Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1. Seyrantepe V, et al. Circulation, 2008 Apr 15. PMID 18391110
    3. Structural alterations of epididymal epithelial cells in cathepsin A-deficient mice affect the blood-epididymal barrier and lead to altered sperm motility. Hermo L, et al. J Androl, 2007 Sep-Oct. PMID 17522420
    4. Characterization of cell- and region-specific abnormalities in the epididymis of cathepsin A deficient mice. Korah N, et al. Mol Reprod Dev, 2003 Dec. PMID 14579412
    5. Increase in macrophages in the testis of cathepsin a deficient mice suggests an important role for these cells in the interstitial space of this tissue. Korah N, et al. Mol Reprod Dev, 2003 Mar. PMID 12548663

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cathepsin A regulates pluripotency, proliferation and differentiation in mouse embryonic stem cells.
      Title: Cathepsin A regulates pluripotency, proliferation and differentiation in mouse embryonic stem cells.
    2. Cathepsin A contributes to left ventricular remodeling by degrading extracellular superoxide dismutase in mice.
      Title: Cathepsin A contributes to left ventricular remodeling by degrading extracellular superoxide dismutase in mice.
    3. in normal tissues the tandem of serine carboxypeptidases, Scpep1 and CathA likely constitutes an important part of the physiological mechanism responsible for the balanced elimination of heightened levels of ET-1 that otherwise would accumulate in tissues and consequently contribute to development of the hyper-proliferative corneal dystrophy and abnormal skin thickening
      Title: Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings.
    4. our results define the biological role of mammalian serine carboxypeptidase Scpep1 and suggest that Scpep1 and CathA together participate in the control of ET-1 regulation of vascular tone and hemodynamics
      Title: Serine carboxypeptidase SCPEP1 and Cathepsin A play complementary roles in regulation of vasoconstriction via inactivation of endothelin-1.
    5. Loss of the cathepsin A results in the lysosomal storage disease galactosialidosis. However, mice with a catalytically inactive cathepsin A enzyme show no signs of this disease.
      Title: Inhibition of CatA: an emerging strategy for the treatment of heart failure.
    6. characterization of human PPCA, including N-terminal sequencing of the two cleavage products
      Title: Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.
    7. Results describe the hydrodynamic properties of PPCA, NEU1, and a complex of the two proteins and identified multiple binding sites on both proteins.
      Title: Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.
    8. The N-terminal N-glycan of NEU1 is indispensable for its function, whereas the C-terminal N-glycan appears to be non-essential. The omission of the second N-glycan can be compensated for by upregulating the expression of PPCA
      Title: Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1.
    9. Results indicate a novel role for PPCA/cathepsin A in osteoclastogenesis via down-regulation of NF-kappaB p50/p65 activity and suggest a new function for PPCA as an NF-kappaB-degrading enzyme in addition to its known multifunctional properties.
      Title: Protective protein/cathepsin A down-regulates osteoclastogenesis by associating with and degrading NF-kappaB p50/p65.
    10. CathA acts in vivo as an endothelin-1-inactivating enzyme and strongly confirm a crucial role of this enzyme in effective elastic fiber formation.
      Title: Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (5)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    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 MGI

    Function Evidence Code Pubs
    enables carboxypeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type carboxypeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type carboxypeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of chaperone-mediated autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of chaperone-mediated autophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein stability ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    lysosomal protective protein
    Names
    carboxypeptidase C
    carboxypeptidase L
    protective protein cathepsin A
    protective protein for beta-galactosidase
    NP_001033581.1
    NP_032932.2
    XP_030104427.1

    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_001038492.2 → NP_001033581.1  lysosomal protective protein isoform b preproprotein

      See identical proteins and their annotated locations for NP_001033581.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, and initiates translation at an alternate downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK019861, AK032197, AL591495, BY319945
      Consensus CDS
      CCDS17062.1
      UniProtKB/Swiss-Prot
      P16675, Q8VEF6
      UniProtKB/TrEMBL
      Q544R6, Q9D2D1
      Related
      ENSMUSP00000099382.4, ENSMUST00000103093.10
      Conserved Domains (1) summary
      pfam00450
      Location:34 → 470
      Peptidase_S10; Serine carboxypeptidase

    2. NM_008906.4 → NP_032932.2  lysosomal protective protein isoform a preproprotein

      See identical proteins and their annotated locations for NP_032932.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK019861, AK032197, AK159150, AL591495
      Consensus CDS
      CCDS17061.1
      UniProtKB/TrEMBL
      G3X8T3, Q9D2D1
      Conserved Domains (1) summary
      pfam00450
      Location:52 → 488
      Peptidase_S10; Serine carboxypeptidase

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      164674792..164682952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248567.2 → XP_030104427.1  lysosomal protective protein isoform X1

      UniProtKB/TrEMBL
      G3X8T3, Q9D2D1
      Related
      ENSMUSP00000099381.3, ENSMUST00000103092.9
      Conserved Domains (1) summary
      pfam00450
      Location:52 → 488
      Peptidase_S10; Serine carboxypeptidase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16675.1 GenPept UniProtKB/Swiss-Prot:P16675

    Gene LinkOut

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