CTSD cathepsin D [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTSDprovided by HGNC
Official Full Name: cathepsin Dprovided by HGNC
Primary source: HGNC:HGNC:2529
See related: Ensembl:ENSG00000117984 MIM:116840; AllianceGenome:HGNC:2529
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPSD; CLN10; HEL-S-130P
Summary: This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
Expression: Ubiquitous expression in lung (RPKM 302.1), kidney (RPKM 273.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (1752755..1763927, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (1838305..1849587, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (1773985..1785157, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

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.
CTSD upregulation as a key driver of spinal ligament abnormalities in spinal stenosis.
Title: CTSD upregulation as a key driver of spinal ligament abnormalities in spinal stenosis.
Downregulation of Protease Cathepsin D and Upregulation of Pathologic alpha-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons.
Title: Downregulation of Protease Cathepsin D and Upregulation of Pathologic α-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons.
Monocytes Release Pro-Cathepsin D to Drive Blood-to-Brain Transcytosis in Diabetes.
Title: Monocytes Release Pro-Cathepsin D to Drive Blood-to-Brain Transcytosis in Diabetes.
Extracellular alpha-synuclein impairs sphingosine 1-phosphate receptor type 3 (S1PR3)-regulated lysosomal delivery of cathepsin D in HeLa cells.
Title: Extracellular α-synuclein impairs sphingosine 1-phosphate receptor type 3 (S1PR3)-regulated lysosomal delivery of cathepsin D in HeLa cells.
A novel function by cathepsin D in degradation of nucleic acids.
Title: A novel function by cathepsin D in degradation of nucleic acids.
Expression and significance of cathepsin C and cathepsin D during pregnancy and Preeclampsia.
Title: Expression and significance of cathepsin C and cathepsin D during pregnancy and Preeclampsia.
CircRNA-406918 enhances the degradation of advanced glycation end products in photoaged human dermal fibroblasts via targeting cathepsin D.
Title: CircRNA-406918 enhances the degradation of advanced glycation end products in photoaged human dermal fibroblasts via targeting cathepsin D.
Maintenance of cathepsin D-dependent autophagy-lysosomal function protects against cardiac ischemia/reperfusion injury.
Title: Maintenance of cathepsin D-dependent autophagy-lysosomal function protects against cardiac ischemia/reperfusion injury.

Submit: New GeneRIF Correction See all GeneRIFs (210)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neuronal ceroid lipofuscinosis 10 MedGen: C1864669 OMIM: 610127 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Cathepsin D cleaves HIV-1 gp120 at positions L181-Y182 (V2 domain) and E274-V275 (C2 domain), which is important for antigen processing and presentation	PubMed
	env	Cathepsin D may induce conformational modification of HIV-1 gp120, allowing direct interaction with the CXCR4 coreceptor and enhancing HIV-1 infectivity and entry into cells	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 Env co-localizes with cathepsin D in HIV-1 infected CD4+ T cells	PubMed
	env	HIV-1 gp160 is identified to have a physical interaction with cathepsin D (CTSD) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Nef	nef	The transfection of activated CD4(+) T lymphocytes with a Nef expression vector rapidly induces the permeabilization of lysosomes and the release of Cat-D	PubMed
Tat	tat	HIV-1 Tat increases cellular levels of CTSD (Cathepsin D), which can be inhibited by caffeine	PubMed
	tat	HIV-1 Tat co-localizes with cathepsin D in neuronal cells	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of cathepsin D (CTSD) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_10183-10184:1004371792:5 (e-PCR)
- UniSTS:267060

ECD22944 (e-PCR)
- UniSTS:303929

ECD01325 (e-PCR)
- UniSTS:282431

ECD00297 (e-PCR)
- UniSTS:281410

ECD06238 (e-PCR)
- UniSTS:287300

ECD07271 (e-PCR)
- UniSTS:288326

ECD01352 (e-PCR)
- UniSTS:282458

ECD00599 (e-PCR)
- UniSTS:281709

ECD07571 (e-PCR)
- UniSTS:288622

ECD00346 (e-PCR)
- UniSTS:281457

STS-M63138 (e-PCR)
- UniSTS:26235

ECD01139 (e-PCR)
- UniSTS:282246

ECD00904 (e-PCR)
- UniSTS:282013

REN61163 (e-PCR)
- UniSTS:385963

REN61164 (e-PCR)
- UniSTS:385964

REN61165 (e-PCR)
- UniSTS:385965

REN61166 (e-PCR)
- UniSTS:385966

REN61167 (e-PCR)
- UniSTS:385967

REN61168 (e-PCR)
- UniSTS:385968

REN61169 (e-PCR)
- UniSTS:385969

REN61170 (e-PCR)
- UniSTS:385970

REN61171 (e-PCR)
- UniSTS:385971

REN61172 (e-PCR)
- UniSTS:385972

REN61173 (e-PCR)
- UniSTS:385973

REN61174 (e-PCR)
- UniSTS:385974

REN61175 (e-PCR)
- UniSTS:385975

REN61176 (e-PCR)
- UniSTS:385976

REN61177 (e-PCR)
- UniSTS:385977

REN61178 (e-PCR)
- UniSTS:385978

REN61179 (e-PCR)
- UniSTS:385979

REN61180 (e-PCR)
- UniSTS:385980

REN61181 (e-PCR)
- UniSTS:385981

REN61182 (e-PCR)
- UniSTS:385982

REN61183 (e-PCR)
- UniSTS:385983

REN61184 (e-PCR)
- UniSTS:385984

REN61185 (e-PCR)
- UniSTS:385985

REN61186 (e-PCR)
- UniSTS:385986

REN61187 (e-PCR)
- UniSTS:385987

REN61188 (e-PCR)
- UniSTS:385988

REN61189 (e-PCR)
- UniSTS:385989

REN61190 (e-PCR)
- UniSTS:385990

REN61191 (e-PCR)
- UniSTS:385991

REN61192 (e-PCR)
- UniSTS:385992

REN61193 (e-PCR)
- UniSTS:385993

REN61194 (e-PCR)
- UniSTS:385994

REN61195 (e-PCR)
- UniSTS:385995

REN61196 (e-PCR)
- UniSTS:385996

REN61197 (e-PCR)
- UniSTS:385997

REN61198 (e-PCR)
- UniSTS:385998

ECD00954 (e-PCR)
- UniSTS:282063

REN61199 (e-PCR)
- UniSTS:385999

REN61200 (e-PCR)
- UniSTS:386000

CTSD (e-PCR)
- UniSTS:58066

REN61203 (e-PCR)
- UniSTS:386003

REN61204 (e-PCR)
- UniSTS:386004

REN61205 (e-PCR)
- UniSTS:386005

REN61206 (e-PCR)
- UniSTS:386006

REN61207 (e-PCR)
- UniSTS:386007

REN61208 (e-PCR)
- UniSTS:386008

REN61209 (e-PCR)
- UniSTS:386009

REN61210 (e-PCR)
- UniSTS:386010

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aspartic-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aspartic-type peptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables cysteine-type endopeptidase activity	TAS Traceable Author Statement more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS Traceable Author Statement more info
involved_in autophagosome assembly	IEA Inferred from Electronic Annotation more info
involved_in execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in insulin catabolic process	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor recycling	IEA Inferred from Electronic Annotation more info
involved_in lipoprotein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of establishment of protein localization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endosome lumen	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
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 melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cathepsin D

Names: ceroid-lipofuscinosis, neuronal 10; epididymis secretory sperm binding protein Li 130P; lysosomal aspartyl peptidase; lysosomal aspartyl protease

NP_001900.1

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.