CTSD cathepsin D [Homo sapiens] - Gene

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Summary

Official Symbol: CTSDprovided by HGNC
Official Full Name: cathepsin Dprovided by HGNC
Primary source: HGNC:2529
See related: Ensembl:ENSG00000117984; HPRD:00291; MIM:116840; Vega:OTTHUMG00000044760
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; MGC2311
Summary: This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11p15.5

Sequence :: Chromosome: 11; NC_000011.9 (1773982..1785222, complement)

See CTSD in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Cathepsin D increases the risk of Alzheimer disease, although the effect size is moderate in this large meta-analysis.
Title: Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis.
Data show that incubation of C5 with cathepsin D resulted in generation of C5a, which was inhibited by the aspartate protease inhibitor pepstatin A.
Title: Cathepsin D is released after severe tissue trauma in vivo and is capable of generating C5a in vitro.
Cathepsin-D was significantly up-regulated in all the study groups compared to controls. No difference was found between primary tumors and their corresponding recurrences or metastases
Title: Expression of cathepsin-D in primary breast cancer and corresponding local recurrence or metastasis: an immunohistochemical study.
A significant difference is not found in genotype and allele frequencies of cathepsin D exon 2 polymorphisms between vascular dementia patients and normal controls in a Korean population.
Title: Genetic polymorphism in exon 2 of cathepsin D is not associated with vascular dementia.
AGR2 is a novel surface antigen that promotes the dissemination of pancreatic cancer cells through regulation of cathepsins B and D.
Title: AGR2 is a novel surface antigen that promotes the dissemination of pancreatic cancer cells through regulation of cathepsins B and D.
Data show that EGF and cathepsin D were measured as breast cnacer markers.
Title: Breast ductal lavage for assessment of breast cancer biomarkers.
Cath-D and E-Cad essays may useful in identifying neck lymph node involvement.
Title: Expression of cathepsin D and E-cadherin in primary laryngeal cancers correlation with neck lymph node involvement.
Cathepsin D is the protease responsible for heme-binding protein (HEBP)1 precursor processing in conditioned cell medium, and the bioactive product is identified as acetylated formyl peptide F2L
Title: Processing of HEBP1 by cathepsin D gives rise to F2L, the agonist of formyl peptide receptor 3.
protection of AGT and resistance to nitrosamine-induced genotoxicity critically depends on GSNOR in hepatocytes
Title: Olfactomedin 4 suppresses prostate cancer cell growth and metastasis via negative interaction with cathepsin D and SDF-1.
Induction of cathepsin D plays a previously unrecognized role in lipid processing for CD1d antigen-restricted lipid presentation by dendritic cells.
Title: Peroxisome proliferator-activated receptor γ-regulated cathepsin D is required for lipid antigen presentation by dendritic cells.

Submit: New GeneRIF Correction See all (99)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Ceroid lipofuscinosis, neuronal, 10

MIM: 610127

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	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

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NC_000011.8	NP_004765.2	MED1	BIND	PubMed	MED1 interacts with Cathepsin-D promoter.
NP_001900.1	NP_000867.1	IGF2R	BIND	PubMed	CTSD (CD) interacts with IGF2R (MPR300).
P07339	P05067	APP	HPRD	PubMed
P07339	P02818	BGLAP	HPRD	PubMed
P07339	O00585	CCL21	HPRD	PubMed
P07339	P01730	CD4	HPRD	PubMed
P07339	P01034	CST3	HPRD	PubMed
P07339	P04080	CSTB	HPRD	PubMed
P07339	P07858	CTSB	HPRD	PubMed
P07339	P02751	FN1	HPRD	PubMed
P07339	P11717	IGF2R	HPRD	PubMed
P07339	P17936	IGFBP3	HPRD	PubMed
P07339	P22692	IGFBP4	HPRD	PubMed
P07339	P01308	INS	HPRD	PubMed
P07339	P07602	PSAP	HPRD	PubMed
P07339	P29622	SERPINA4	HPRD	PubMed
P07339	P04278	SHBG	HPRD	PubMed
P07339	P14672	SLC2A4	HPRD	PubMed
P07339	P01266	TG	HPRD	PubMed
BioGRID:107889	BioGRID:109268	H2AFX	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107889	BioGRID:111580	MAPK1	BioGRID	PubMed	Two-hybrid
BioGRID:107889	BioGRID:111639	PSAP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107889	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107889	BioGRID:119509	UCHL5	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex

Function	Evidence Code	Pubs
aspartic-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell death	IEA Inferred from Electronic Annotation more info
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info
extracellular space	ISS Inferred from Sequence or Structural Similarity more info
lysosome	IDA Inferred from Direct Assay more info	PubMed
lysosome	NAS Non-traceable Author Statement more info
melanosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: cathepsin D

Names: cathepsin D; lysosomal aspartyl protease; lysosomal aspartyl peptidase; ceroid-lipofuscinosis, neuronal 10

NP_001900.1

EC 3.4.23.5

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_008655.1 RefSeqGene

Range

5001..16241

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001909.4 → NP_001900.1 cathepsin D preproprotein

Status: REVIEWED

Source sequence(s)

BC016320, BM762986, BM976200

Consensus CDS

CCDS7725.1

UniProtKB/Swiss-Prot

P07339

Related

ENSP00000236671, OTTHUMP00000042282, ENST00000236671, OTTHUMT00000104272

Conserved Domains (3) summary

pfam07966
Location:22 – 49
Blast Score: 112

A1_Propeptide; A1 Propeptide

cd05490
Location:73 – 408
Blast Score: 1670

Cathepsin_D2; Cathepsin_D2, pepsin family of proteinases.

pfam00026
Location:78 – 409
Blast Score: 1036

Asp; Eukaryotic aspartyl protease

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

1773982..1785222, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

1564872..1576226, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068580.23 (43349..54586)	None
genomic	CH471158.1	EAX02461.1
		EAX02462.1
		EAX02463.1
genomic	L12980.1	AAA16314.1
genomic	M63138.1	AAA51922.1
genomic	S52557.1	AAD13868.1
genomic	S74689.1	AAD14156.1
mRNA	AK130178.1	None
mRNA	BC001574.1	None
mRNA	BC016320.2	AAH16320.1
mRNA	BM762986.1	None
mRNA	BM976200.1	None
mRNA	BT006910.1	AAP35556.1
mRNA	BT020155.1	AAV38957.1
mRNA	CR456947.1	CAG33228.1
mRNA	M11233.1	AAB59529.1
mRNA	X05344.1	CAA28955.1
other-genetic	DQ893547.2	ABM84473.1
other-genetic	DQ893878.2	ABM84804.1