Ctsd
Gene Detail

Symbol Name ID

Ctsd cathepsin D MGI:88562

Synonyms

CatD, CD

Feature Type

protein coding gene

Genetic Map

Chromosome 7

87.93 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:142371148-142388038 bp, - strand From VEGA annotation of GRCm38   16891 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55616  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: Pepsin
Gene Tree: Ctsd

Human homologs

Human Homolog		CTSD, cathepsin D
NCBI Gene ID		1509
neXtProt AC		NX_P07339
Human Synonyms		CLN10, CPSD, HEL-S-130P
Human Chr (Location)		11p15.5; chr11:1752752-1763992 (-)  GRCh38
Disease Associations		(1) Diseases Associated with Human CTSD

Alleles and phenotypes

All alleles(5) : Targeted(4) Gene trapped(1)
 

Mice homozygous for a null mutation die in a state of anorexia at ~P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells; near the terminal stage, affected mice have seizures, display retinal atrophy, and become blind.

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

Gene Ontology (GO) classifications

All GO classifications: (19 annotations)

Process	autophagic vacuole assembly, proteolysis
Component	extracellular matrix, extracellular region, ...
Function	aspartic-type endopeptidase activity, endopeptidase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (16 records)

Data Summary: Results (91)    Tissues (53)    Images (23)
Theiler Stages: 11, 13, 15, 19, 21, 22, 23, 24, 28

Assay Type	Results
Immunohistochemistry	5
RNA in situ	76
Northern blot	6
Western blot	4

cDNA source data(831)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(835) Genomic(2) cDNA(832) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000018797 (Evidence)
Ensembl Gene Model	ENSMUSG00000007891 (Evidence)
Entrez Gene	13033 (Evidence)
UniGene	231395
DFCI	TC1573701, TC1614084
DoTS	DT.101361670, DT.101361679, DT.101361841, DT.110998858, DT.87073174, DT.94214964, DT.94215031, DT.97336871, DT.97376125
NIA Mouse Gene Index	U029482
EC	3.4.23.5
Consensus CDS Project	CCDS22029.1
International Mouse Knockout Project Status	Ctsd

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018797	VEGA Gene Model | MGI Sequence Detail	16891	C57BL/6J
transcript	OTTMUST00000045257	VEGA | MGI Sequence Detail	2128	Not Applicable
polypeptide	OTTMUSP00000020357	VEGA | MGI Sequence Detail	410	Not Applicable

All sequences(140) RefSeq(2) UniProt(20)

Polymorphisms

RFLP(2) : SNPs within 2kb(92 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR021109	Aspartic peptidase
InterPro	IPR001461	Peptidase A1
InterPro	IPR001969	Peptidase aspartic, active site
InterPro	IPR012848	Propeptide, peptidase A1
Protein Ontology	PR:000006025	cathepsin D

References

(Earliest) J:12379 Qin S, et al., Mapping FSHB, CAT, and CTSB to specific sites on 11p. Cytogenet Cell Genet. 1987;46:678
(Latest) J:202510 Palmer DN, et al., NCL disease mechanisms. Biochim Biophys Acta. 2013 Nov;1832(11):1882-93
All references(100)

Other accession IDs

MGD-MRK-2246