Ctsa
Gene Detail

Symbol Name ID

Ctsa cathepsin A MGI:97748

Synonyms

PPCA, Ppgb

Feature Type

protein coding gene

Genetic Map

Chromosome 2

85.27 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr2:164832873-164841032 bp, + strand From VEGA annotation of GRCm38   8160 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:80163  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: serine carboxypeptidase
Gene Tree: Ctsa

Human homologs

Human Homolog		CTSA, cathepsin A
NCBI Gene ID		5476
neXtProt AC		NX_P10619
Human Synonyms		GLB2, GSL, NGBE, PPCA, PPGB
Human Chr (Location)		20q13.1; chr20:44519591-44527459 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CTSA

Alleles and phenotypes

All alleles(12) : Targeted(7) Gene trapped(5)
 

Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months.

 
Human Diseases Modeled Using Mouse Ctsa (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	proteolysis
Component	intracellular membrane-bounded organelle, lysosome, ...
Function	carboxypeptidase activity, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (103)    Tissues (97)    Images (9)
Theiler Stages: 22, 25, 26, 28

Assay Type	Results
RNA in situ	94
RT-PCR	9

cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(18) Genomic(1) cDNA(16) Primer pair(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000001170 (Evidence)
Ensembl Gene Model	ENSMUSG00000017760 (Evidence)
Entrez Gene	19025 (Evidence)
DFCI	TC1573370, TC1605445, TC1614027
NIA Mouse Gene Index	U002821
EC	3.4.16.5
Consensus CDS Project	CCDS17061.1, CCDS17062.1
International Mouse Knockout Project Status	Ctsa

Sequences

Length	Strain/Species
genomic	OTTMUSG00000001170	VEGA Gene Model | MGI Sequence Detail	8160	C57BL/6J
transcript	OTTMUST00000002280	VEGA | MGI Sequence Detail	2534	Not Applicable
polypeptide	OTTMUSP00000001116	VEGA | MGI Sequence Detail	474	Not Applicable

All sequences(85) RefSeq(4) UniProt(8)

Polymorphisms

RFLP(1) : SNPs(97 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001563	Peptidase S10, serine carboxypeptidase
InterPro	IPR018202	Peptidase S10, serine carboxypeptidase, active site
Protein Ontology	PR:000006022	lysosomal protective protein

References

(Earliest) J:10347 Galjart NJ, et al., Mouse protective protein. cDNA cloning, sequence comparison, and expression. J Biol Chem. 1990 Mar 15;265(8):4678-84
(Latest) J:165373 Zanoteli E, et al., Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue. Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):659-72
All references(47)

Other accession IDs

MGD-MRK-13590, MGI:2139179