GenTIGS

DnaJ heat shock protein family (Hsp40) member C5 (DNAJC5) 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_025219.3	NP_079495.1	NC_000020.11	(63895125..63936010)	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 185 reference articles

Variant Information DnaJ heat shock protein family (Hsp40) member C5 (DNAJC5) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of DnaJ heat shock protein family (Hsp40) member C5 (DNAJC5)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	29997244 33961781
2	Homo sapiens	IEA	located_in	cytoplasm	Component	-
3	Homo sapiens	HDA	located_in	mitochondrion	Component	20833797
4	Homo sapiens	HDA	located_in	lysosomal membrane	Component	17897319
5	Homo sapiens	IEA	located_in	cytosol	Component	-
6	Homo sapiens	ISS	located_in	cytosol	Component	-
7	Homo sapiens	IDA	located_in	plasma membrane	Component	21820099
8	Homo sapiens	IEA	located_in	plasma membrane	Component	-
9	Homo sapiens	TAS	located_in	plasma membrane	Component	-
10	Homo sapiens	IBA	involved_in	protein folding	Process	-
11	Homo sapiens	IEA	involved_in	protein folding	Process	-
12	Homo sapiens	NAS	involved_in	exocytosis	Process	10099709
13	Homo sapiens	IEA	located_in	synaptic vesicle	Component	-
14	Homo sapiens	HDA	located_in	membrane	Component	19946888
15	Homo sapiens	IBA	is_active_in	membrane	Component	-
16	Homo sapiens	IEA	located_in	membrane	Component	-
17	Homo sapiens	ISS	located_in	membrane	Component	-
18	Homo sapiens	TAS	involved_in	synaptic vesicle exocytosis	Process	10099709
19	Homo sapiens	IEA	is_active_in	synaptic vesicle membrane	Component	-
20	Homo sapiens	IEA	located_in	cytoplasmic vesicle	Component	-
21	Homo sapiens	IEA	is_active_in	neuromuscular junction	Component	-
22	Homo sapiens	TAS	located_in	azurophil granule membrane	Component	-
23	Homo sapiens	TAS	located_in	specific granule membrane	Component	-
24	Homo sapiens	IEA	located_in	melanosome	Component	-
25	Homo sapiens	IEA	located_in	chromaffin granule membrane	Component	-
26	Homo sapiens	IEA	enables	ATP-dependent protein binding	Function	-
27	Homo sapiens	IBA	is_active_in	intracellular membrane-bounded organelle	Component	-
28	Homo sapiens	TAS	involved_in	regulated exocytosis	Process	15217342
29	Homo sapiens	TAS	located_in	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	Component	-
30	Homo sapiens	IBA	involved_in	regulation of synaptic vesicle cycle	Process	-
31	Homo sapiens	IEA	involved_in	regulation of synaptic vesicle cycle	Process	-
32	Homo sapiens	IBA	is_active_in	presynapse	Component	-
33	Homo sapiens	IEA	is_active_in	presynapse	Component	-