Ctsa cathepsin A [Mus musculus (house mouse)] - Gene

Summary

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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ppgb (e-PCR), detects polymorphism
- UniSTS:265236

U37226 (e-PCR)
- UniSTS:178763

J05261 (e-PCR)
- UniSTS:178768

RH136414 (e-PCR)
- UniSTS:210404

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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
enables serine-type carboxypeptidase activity	ISS Inferred from Sequence or Structural Similarity 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 negative regulation of chaperone-mediated autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	ISS Inferred from Sequence or Structural Similarity 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
involved_in regulation of protein stability	ISS Inferred from Sequence or Structural Similarity 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 more info	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

EC 3.4.16.5

NP_032932.2

EC 3.4.16.5

XP_030104427.1

EC 3.4.16.5

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)

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
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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

164674792..164682952

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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