CTSD: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

CTSD

Aliases

CLN10, CPSD, HEL-S-130P

Entrez Gene ID

1509

Gene Name

Cathepsin D

Chromosomal Location

11p15.5

HGNC ID

HGNC:2529

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]

RefSeq DNA

NG_008655.1

RefSeq mRNA

NM_001909.5

e!Ensembl

Gene	ENSG00000117984
Transcript	ENST00000236671, ENST00000637815, ENST00000433655, ENST00000637915, ENST00000636571, ENST00000637387, ENST00000636843, ENST00000429746, ENST00000438213, ENST00000367196, ENST00000637381
Protein	ENSP00000236671, ENSP00000490344, ENSP00000404902, ENSP00000490471, ENSP00000490770, ENSP00000490598, ENSP00000490897, ENSP00000402586, ENSP00000415036, ENSP00000356164, ENSP00000490316

Gene Ontology (GO)

Show/Hide all(24 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006508	Biological process	Proteolysis	IBA	21873635
GO:0006508	Biological process	Proteolysis	IDA	16997486
GO:0006508	Biological process	Proteolysis	IMP	17188016
GO:0030163	Biological process	Protein catabolic process	IBA	21873635
GO:0042159	Biological process	Lipoprotein catabolic process	IDA	16997486
GO:0043065	Biological process	Positive regulation of apoptotic process	IDA	12107093
GO:0043280	Biological process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	12107093
GO:0070201	Biological process	Regulation of establishment of protein localization	IDA	12107093
GO:0005576	Cellular component	Extracellular region	HDA	27068509
GO:0005576	Cellular component	Extracellular region	NAS	14718574
GO:0005615	Cellular component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Cellular component	Extracellular space	ISS	22261194
GO:0005764	Cellular component	Lysosome	IBA	21873635
GO:0005764	Cellular component	Lysosome	IDA	1692625, 1837142, 2350688, 19723497
GO:0005765	Cellular component	Lysosomal membrane	IDA	17188016
GO:0010008	Cellular component	Endosome membrane	IDA	17188016
GO:0045121	Cellular component	Membrane raft	IDA	25204797
GO:0062023	Cellular component	Collagen-containing extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0062023	Cellular component	Collagen-containing extracellular matrix	HDA	20551380
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 23533145
GO:0004190	Molecular function	Aspartic-type endopeptidase activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	17112520
GO:0008233	Molecular function	Peptidase activity	IDA	16997486
GO:0008233	Molecular function	Peptidase activity	IMP	17188016

Protein Information

Protein Name

Cathepsin D, ceroid-lipofuscinosis, neuronal 10, epididymis secretory sperm binding protein Li 130P, lysosomal aspartyl peptidase, lysosomal aspartyl protease

Function

Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.

Refseq Proteins

NP_001900.1

UniProt

P07339

PDB

1LYA, 1LYB, 1LYW, 4OBZ, 4OC6, 4OD9

Pfam

Pfam Accession	Pfam ID
PF07966	A1_Propeptide
PF00026	Asp