RBCC Red Blood Cell Collection

CATD_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CTSD , CPSD
Protein names and data: CATD_HUMAN , Cathepsin D; 3.4.23.5; Cathepsin D light chain; Cathepsin D heavy chain; Flags: Precursor Lenght: 412 a.a.
Mass: 44552 Da
fasta formatted sequence
Function: Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.
Catalytic activity: Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.
Disease: ( OMIM: 116840 610127 ) Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127]: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely bound to the matrix (PubMed:20551380).
Tissue specificity: Expressed in the aorta extrcellular space (at protein level).

Genetic variants

The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than non-carriers.

58 - 58 A -> V (associated with increased risk for AD; possibly influences secretion and intracellular maturation; dbSNP:rs17571). VAR_011621 17571
229 - 229 F -> I (in CLN10). VAR_029362
282 - 282 G -> R (in dbSNP:rs147278302). VAR_058490 147278302
383 - 383 W -> C (in CLN10). VAR_029363

Database cross-references

UniProt: P07339
Ensembl: ENST00000236671
MIM: 116840
MIM: 610127
neXtProt: NX_P07339
Antibodypedia: P07339 (may not find the protein thus also not any antibody)
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