GenTIGS

CLN5 intracellular trafficking protein (CLN5) 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_001366624.2	NP_001353553.1	NC_000013.11	(76992080..77005116)	Reference GRCh38.p14 Primary Assembly	O75503
2	REVIEWED	NM_006493.4	NP_006484.2	NC_000013.11	(76992080..77005116)	Reference GRCh38.p14 Primary Assembly	O75503

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 159 reference articles

Variant Information CLN5 intracellular trafficking protein (CLN5) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of CLN5 intracellular trafficking protein (CLN5)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	12134079 14699076 22431521 32296183
2	Homo sapiens	IDA	enables	D-mannose binding	Function	16399764
3	Homo sapiens	IDA	located_in	lysosome	Component	11971870 19941651 22431521 37708259
4	Homo sapiens	IEA	located_in	lysosome	Component	-
5	Homo sapiens	IBA	is_active_in	lysosomal membrane	Component	-
6	Homo sapiens	IDA	located_in	lysosomal membrane	Component	12134079
7	Homo sapiens	IEA	located_in	vacuolar lumen	Component	-
8	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	12134079
9	Homo sapiens	IDA	located_in	Golgi apparatus	Component	12134079
10	Homo sapiens	IEA	located_in	cytosol	Component	-
11	Homo sapiens	IBA	involved_in	lysosome organization	Process	-
12	Homo sapiens	IMP	involved_in	lysosomal lumen acidification	Process	11722572
13	Homo sapiens	IEP	involved_in	brain development	Process	10992246
14	Homo sapiens	IEA	enables	palmitoyl-(protein) hydrolase activity	Function	-
15	Homo sapiens	IDA	located_in	membrane	Component	12134079 28442266
16	Homo sapiens	IEA	located_in	membrane	Component	-
17	Homo sapiens	NAS	located_in	membrane	Component	9662406
18	Homo sapiens	IEA	enables	transferase activity	Function	-
19	Homo sapiens	IEA	enables	hydrolase activity	Function	-
20	Homo sapiens	IBA	enables	hydrolase activity, acting on glycosyl bonds	Function	-
21	Homo sapiens	IEP	involved_in	neurogenesis	Process	10992246
22	Homo sapiens	NAS	involved_in	protein catabolic process	Process	10740217
23	Homo sapiens	IMP	involved_in	retrograde transport, endosome to Golgi	Process	22431521
24	Homo sapiens	NAS	involved_in	neuron maturation	Process	10992246
25	Homo sapiens	IDA	located_in	perinuclear region of cytoplasm	Component	10992246
26	Homo sapiens	IDA	involved_in	protein maturation	Process	20052765
27	Homo sapiens	IDA	enables	long-chain fatty acyl-CoA hydrolase activity	Function	35427157
28	Homo sapiens	IEA	enables	long-chain fatty acyl-CoA hydrolase activity	Function	-
29	Homo sapiens	HDA	located_in	extracellular exosome	Component	23533145
30	Homo sapiens	IEA	involved_in	macromolecule depalmitoylation	Process	-
31	Homo sapiens	IDA	enables	bis(monoacylglycero)phosphate synthase activity	Function	37708259
32	Homo sapiens	IMP	involved_in	positive regulation of GTP binding	Process	22431521