GenTIGS

Nephrocystin 1 (NPHP1) Associated conditions: 1. Joubert syndrome 2. Leber congenital amaurosis 3. Nephronophthisis 4. Senior-Loken syndrome

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_000272.5	NP_000263.2	NC_000002.12	(110123347..110205012, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001128178.3	NP_001121650.1	NC_000002.12	(110123347..110205012, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001128179.3	NP_001121651.1	NC_000002.12	(110123347..110205012, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001374256.1	NP_001361185.1	NC_000002.12	(110123347..110205012, complement)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_001374257.1	NP_001361186.1	NC_000002.12	(110123347..110205012, complement)	Reference GRCh38.p14 Primary Assembly	-
6	REVIEWED	NM_207181.4	NP_997064.2	NC_000002.12	(110123347..110205012, 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 196 reference articles

Variant Information Nephrocystin 1 (NPHP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Nephrocystin 1 (NPHP1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	NAS	enables	structural molecule activity	Function	12006559
2	Homo sapiens	IPI	enables	protein binding	Function	12244321 12872122 15661758 16374509 18633336 20664800 20856870 21357692 21565611 21633164 23532844 25825872 26638075 27173435 29959317 33961781 40739040
3	Homo sapiens	IBA	is_active_in	cytoplasm	Component	-
4	Homo sapiens	IEA	located_in	cytoplasm	Component	-
5	Homo sapiens	TAS	located_in	cytosol	Component	-
6	Homo sapiens	IDA	located_in	cell-cell junction	Component	21565611
7	Homo sapiens	IEA	located_in	adherens junction	Component	-
8	Homo sapiens	IEA	located_in	bicellular tight junction	Component	-
9	Homo sapiens	IBA	is_active_in	cilium	Component	-
10	Homo sapiens	IEA	located_in	cilium	Component	-
11	Homo sapiens	IEA	located_in	axoneme	Component	-
12	Homo sapiens	NAS	involved_in	signal transduction	Process	12244321
13	Homo sapiens	IEA	involved_in	spermatogenesis	Process	-
14	Homo sapiens	NAS	involved_in	visual behavior	Process	12205563
15	Homo sapiens	NAS	located_in	membrane	Component	10665934
16	Homo sapiens	IEA	involved_in	cell projection organization	Process	-
17	Homo sapiens	ISS	involved_in	cell projection organization	Process	-
18	Homo sapiens	NAS	involved_in	actin cytoskeleton organization	Process	12006559
19	Homo sapiens	IEA	involved_in	cell differentiation	Process	-
20	Homo sapiens	IDA	located_in	motile cilium	Component	16885411
21	Homo sapiens	ISS	located_in	photoreceptor connecting cilium	Component	-
22	Homo sapiens	NAS	located_in	ciliary transition zone	Component	28401750
23	Homo sapiens	ISS	involved_in	spermatid differentiation	Process	-
24	Homo sapiens	ISS	involved_in	retina development in camera-type eye	Process	-
25	Homo sapiens	IEA	located_in	anchoring junction	Component	-
26	Homo sapiens	IBA	involved_in	protein localization involved in establishment of planar polarity	Process	-
27	Homo sapiens	NAS	involved_in	cell-cell adhesion	Process	12006559
28	Homo sapiens	IMP	involved_in	positive regulation of bicellular tight junction assembly	Process	19755384
29	Homo sapiens	NAS	involved_in	protein localization to ciliary transition zone	Process	28401750