GenTIGS

Cathepsin D (CTSD) Associated conditions: 1. Neuronal ceroid lipofuscinosis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001909.5	NP_001900.1	NC_000011.10	(1752754..1763926, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1429 reference articles

Variant Information Cathepsin D (CTSD) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Cathepsin D (CTSD)

ClinVar variants:Revealing mutagenic patterns

GO Term of Cathepsin D (CTSD)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	endopeptidase activity	Function	-
2	Homo sapiens	IBA	enables	aspartic-type endopeptidase activity	Function	-
3	Homo sapiens	IEA	enables	aspartic-type endopeptidase activity	Function	-
4	Homo sapiens	TAS	enables	aspartic-type endopeptidase activity	Function	3927292
5	Homo sapiens	TAS	enables	cysteine-type endopeptidase activity	Function	-
6	Homo sapiens	IPI	enables	protein binding	Function	17112520 28493053 32814053
7	Homo sapiens	HDA	located_in	extracellular region	Component	27068509
8	Homo sapiens	IEA	located_in	extracellular region	Component	-
9	Homo sapiens	NAS	located_in	extracellular region	Component	14718574
10	Homo sapiens	TAS	located_in	extracellular region	Component	-
11	Homo sapiens	HDA	located_in	extracellular space	Component	16502470 20551380
12	Homo sapiens	IBA	is_active_in	extracellular space	Component	-
13	Homo sapiens	IEA	located_in	extracellular space	Component	-
14	Homo sapiens	ISS	located_in	extracellular space	Component	22261194
15	Homo sapiens	IEA	located_in	cytoplasm	Component	-
16	Homo sapiens	IBA	is_active_in	lysosome	Component	-
17	Homo sapiens	IDA	located_in	lysosome	Component	1692625 1837142 2350688 12107093 18337546 19723497
18	Homo sapiens	IEA	located_in	lysosome	Component	-
19	Homo sapiens	IDA	located_in	lysosomal membrane	Component	17188016
20	Homo sapiens	IDA	is_active_in	cytosol	Component	12107093
21	Homo sapiens	IBA	involved_in	proteolysis	Process	-
22	Homo sapiens	IDA	involved_in	proteolysis	Process	16997486
23	Homo sapiens	IEA	involved_in	proteolysis	Process	-
24	Homo sapiens	IMP	involved_in	proteolysis	Process	17188016
25	Homo sapiens	IDA	enables	peptidase activity	Function	16997486
26	Homo sapiens	IEA	enables	peptidase activity	Function	-
27	Homo sapiens	IMP	enables	peptidase activity	Function	17188016
28	Homo sapiens	IDA	located_in	endosome membrane	Component	17188016
29	Homo sapiens	IEA	enables	hydrolase activity	Function	-
30	Homo sapiens	TAS	involved_in	antigen processing and presentation of exogenous peptide antigen via MHC class II	Process	-
31	Homo sapiens	HDA	colocalizes_with	extracellular matrix	Component	20551380
32	Homo sapiens	HDA	located_in	extracellular matrix	Component	25037231 28344315 28675934
33	Homo sapiens	IEA	is_active_in	endosome lumen	Component	-
34	Homo sapiens	TAS	located_in	specific granule lumen	Component	-
35	Homo sapiens	IEA	involved_in	insulin receptor recycling	Process	-
36	Homo sapiens	IDA	involved_in	lipoprotein catabolic process	Process	16997486
37	Homo sapiens	IEA	located_in	melanosome	Component	-
38	Homo sapiens	IDA	involved_in	positive regulation of apoptotic process	Process	12107093
39	Homo sapiens	TAS	located_in	lysosomal lumen	Component	-
40	Homo sapiens	IDA	located_in	membrane raft	Component	25204797
41	Homo sapiens	IEA	enables	aspartic-type peptidase activity	Function	-
42	Homo sapiens	ISS	enables	aspartic-type peptidase activity	Function	-
43	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867 23533145
44	Homo sapiens	IDA	involved_in	regulation of establishment of protein localization	Process	12107093
45	Homo sapiens	IDA	involved_in	execution phase of apoptosis	Process	12107093
46	Homo sapiens	IEA	involved_in	insulin catabolic process	Process	-
47	Homo sapiens	TAS	located_in	tertiary granule lumen	Component	-
48	Homo sapiens	TAS	located_in	ficolin-1-rich granule lumen	Component	-