Cathepsin D (CTSD)

CPSD; CLN10; Lysosomal Aspartyl Protease; Ceroid-Lipofuscinosis,Neuronal 10

SPN	V550
HGNC	2529
MGI	88562
PubMed	19919557
RGD	621511
UniProt	P07339
Wiki	Cathepsin_D

Cathepsin D, is 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.

Faust et al. (1985) cloned human cathepsin D from a kidney cDNA library. The cDNA encodes a 412-amino acid protein with 20 and 44 amino acids in a pre- and prosegment, respectively.

Reference

"Cloning and sequence analysis of cDNA for human cathepsin D."
Proc. Natl. Acad. Sci. U.S.A. 82:4910-4914(1985) [PubMed] [Europe PMC] [Abstract]

"Oestrogen regulates cathepsin D mRNA levels in oestrogen responsive human breast cancer cells."
Nucleic Acids Res. 15:3773-3786(1987) [PubMed] [Europe PMC] [Abstract]

"Molecular organization of the human cathepsin D gene."
DNA Cell Biol. 10:423-431(1991) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The human cathepsin D-encoding gene is transcribed from an estrogen-regulated and a constitutive start point."
Gene 134:277-282(1993) [PubMed] [Europe PMC] [Abstract]

"Characterization of the proximal estrogen-responsive element of human cathepsin D gene."
Mol. Endocrinol. 8:693-703(1994) [PubMed] [Europe PMC] [Abstract]

, Submitted (JUN-1992) to UniProtKB

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"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Two crystal structures for cathepsin D: the lysosomal targeting signal and active site."
EMBO J. 12:1293-1302(1993) [PubMed] [Europe PMC] [Abstract]

"Crystal structures of native and inhibited forms of human cathepsin D: implications for lysosomal targeting and drug design."
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"A genetic variation of cathepsin D is a major risk factor for Alzheimer's disease."
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"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."
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