Ctsd cathepsin D [Mus musculus (house mouse)] - Gene

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. Involved in insulin catabolic process and insulin receptor recycling. Acts upstream of or within autophagosome assembly. Located in extracellular space and lysosome. Is active in endosome lumen. Is expressed in several structures, including central nervous system; extraembryonic component; eye; genitourinary system; and lung. 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, Nov 2024]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 1266.1), mammary gland adult (RPKM 682.4) and 23 other tissues See more
Orthologs: human all
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Genomic context

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Impaired cathepsin D in retinal pigment epithelium cells mediates Stargardt disease pathogenesis.
Title: Impaired cathepsin D in retinal pigment epithelium cells mediates Stargardt disease pathogenesis.
Cathepsin D is essential for the degradomic shift of macrophages required to resolve liver fibrosis.
Title: Cathepsin D is essential for the degradomic shift of macrophages required to resolve liver fibrosis.
Prominent tauopathy and intracellular beta-amyloid accumulation triggered by genetic deletion of cathepsin D: implications for Alzheimer disease pathogenesis.
Title: Prominent tauopathy and intracellular β-amyloid accumulation triggered by genetic deletion of cathepsin D: implications for Alzheimer disease pathogenesis.
Cathepsin D is the principal intracellular protease responsible for the degradation of amyloid beta-protein.
Title: Cathepsin D regulates cerebral Aβ42/40 ratios via differential degradation of Aβ42 and Aβ40.
Lack of Cathepsin D in the central nervous system results in microglia and astrocyte activation and the accumulation of proteinopathy-related proteins.
Title: Lack of Cathepsin D in the central nervous system results in microglia and astrocyte activation and the accumulation of proteinopathy-related proteins.
Cathepsin D interacts with adenosine A2A receptors in mouse macrophages to modulate cell surface localization and inflammatory signaling.
Title: Cathepsin D interacts with adenosine A(2A) receptors in mouse macrophages to modulate cell surface localization and inflammatory signaling.
Inhibition of Extracellular Cathepsin D Reduces Hepatic Lipid Accumulation and Leads to Mild Changes in Inflammationin NASH Mice.
Title: Inhibition of Extracellular Cathepsin D Reduces Hepatic Lipid Accumulation and Leads to Mild Changes in Inflammationin NASH Mice.
Rapid and Progressive Loss of Multiple Retinal Cell Types in Cathepsin D-Deficient Mice-An Animal Model of CLN10 Disease.
Title: Rapid and Progressive Loss of Multiple Retinal Cell Types in Cathepsin D-Deficient Mice-An Animal Model of CLN10 Disease.
Cathepsin B and D deficiency in the mouse pancreas induces impaired autophagy and chronic pancreatitis.
Title: Cathepsin B and D deficiency in the mouse pancreas induces impaired autophagy and chronic pancreatitis.
Acid Sphingomyelinase Contributes to the Control of Mycobacterial Infection via a Signaling Cascade Leading from Reactive Oxygen Species to Cathepsin D.
Title: Acid Sphingomyelinase Contributes to the Control of Mycobacterial Infection via a Signaling Cascade Leading from Reactive Oxygen Species to Cathepsin D.

Submit: New GeneRIF Correction See all GeneRIFs (75)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Spontaneous (1)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:498756 (e-PCR)
- UniSTS:498756

Ctsd (e-PCR), detects polymorphism
- UniSTS:498756

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in epithelial tube branching involved in lung morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in execution phase of apoptosis	IEA Inferred from Electronic Annotation more info
involved_in insulin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in insulin receptor recycling	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoprotein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipoprotein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IC Inferred by Curator more info	PubMed
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in regulation of establishment of protein localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of establishment of protein localization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endosome lumen	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor 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 melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in presynaptic endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cathepsin D

NP_034113.1

EC 3.4.23.5

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_009983.3 → NP_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:73 → 405

Cathepsin_D2; Cathepsin_D2, pepsin family of proteinases

pfam00026
Location:78 → 407

Asp; Eukaryotic aspartyl protease

pfam07966
Location:21 → 46

A1_Propeptide; A1 Propeptide