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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; 4 western clawed frog; 1 zebrafish

HCOP human homology predictions: CTSD
Protein SuperFamily: Pepsin
Gene Tree: Ctsd

Human
homologs
CTSD, cathepsin D
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1509
neXtProt AC: NX_P07339

Human Synonyms: CLN10, CPSD, HEL-S-130P

Human Chr (Location): 11p15.5; chr11:1752752-1763992 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CTSD

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Targeted(4)
Incidental mutations (data from APF )
 
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 in Mice Using Ctsd (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ctsd interacts with 158 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process autophagic vacuole assembly, autophagy, ...
Component extracellular exosome, extracellular matrix, ...
Function aspartic-type endopeptidase activity, endopeptidase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (146)    Tissues (87)    Images (53)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 9
RNA in situ 127
Northern blot 6
Western blot 4
cDNA source data(831)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA CTSD ; Xenbase ctsd ; ZFIN ctsd    NEW 
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 Phenotyping Consortium Status Ctsd
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018797 VEGA Gene Model | MGI Sequence Detail 16891 C57BL/6J ±  kb
transcript OTTMUST00000045257 VEGA | MGI Sequence Detail 2128 Not Applicable 
polypeptide OTTMUSP00000020357 VEGA | MGI Sequence Detail 410 Not Applicable 

For the selected sequences
All sequences(158) RefSeq(2) UniProt(20)
Polymorphisms
RFLP(2) : SNPs within 2kb(92 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:209048 Koike M, et al., Differences in expression patterns of cathepsin C/dipeptidyl peptidase I in normal, pathological and aged mouse central nervous system. Eur J Neurosci. 2013 Mar;37(5):816-30
All references(105)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-2246

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory