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Ctsd cathepsin D [ Mus musculus (house mouse) ]

Gene ID: 13033, updated on 8-Feb-2024

Summary

Official Symbol
Ctsdprovided by MGI
Official Full Name
cathepsin Dprovided by MGI
Primary source
MGI:MGI:88562
See related
Ensembl:ENSMUSG00000007891 AllianceGenome:MGI:88562
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
CD; CatD
Summary
Enables aspartic-type endopeptidase activity. Acts upstream of or within autophagosome assembly. Located in extracellular space and lysosome. Is expressed in several structures, including central nervous system; extraembryonic component; eye; genitourinary system; and optic nerve. Used to study neuronal ceroid lipofuscinosis 10. Human ortholog(s) of this gene implicated in Alzheimer's disease; breast cancer; and neuronal ceroid lipofuscinosis 10. Orthologous to human CTSD (cathepsin D). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in subcutaneous fat pad adult (RPKM 1266.1), mammary gland adult (RPKM 682.4) and 23 other tissues See more
Orthologs
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Genomic context

See Ctsd in Genome Data Viewer
Location:
7 F5; 7 87.93 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (141929647..141941564, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (142375910..142387827, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene 5054 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:149508605-149508858 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:149509431-149509643 Neighboring gene interferon induced transmembrane protein 10 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:149539783-149540069 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:149567080-149567427 Neighboring gene STARR-seq mESC enhancer starr_20506 Neighboring gene predicted gene, 26143 Neighboring gene synaptotagmin VIII

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1) 
  • Targeted (7)  1 citation
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables aspartic-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables aspartic-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables aspartic-type peptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables peptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables peptide binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in endosome lumen IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome membrane ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in membrane raft ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
is_active_in presynaptic endosome ISO
Inferred from Sequence Orthology
more info
 

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_009983.3NP_034113.1  cathepsin D precursor

    See identical proteins and their annotated locations for NP_034113.1

    Status: VALIDATED

    Source sequence(s)
    CD741449, X52886
    Consensus CDS
    CCDS22029.1
    UniProtKB/Swiss-Prot
    P18242
    UniProtKB/TrEMBL
    Q3TJN3, Q3TWD0, Q3TWR6, Q3TXL5, Q3U7P0, Q3UAQ1, Q3UCD9, Q3UCW4
    Related
    ENSMUSP00000121203.2, ENSMUST00000151120.9
    Conserved Domains (3) summary
    cd05490
    Location:73405
    Cathepsin_D2; Cathepsin_D2, pepsin family of proteinases
    pfam00026
    Location:78407
    Asp; Eukaryotic aspartyl protease
    pfam07966
    Location:2146
    A1_Propeptide; A1 Propeptide

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_000073.7 Reference GRCm39 C57BL/6J

    Range
    141929647..141941564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)