GenTIGS

NPHS1 adhesion molecule, nephrin (NPHS1) Associated conditions: 1. Finnish congenital nephrotic 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_004646.4	NP_004637.1	NC_000019.10	(35825371..35852503, complement)	Reference GRCh38.p14 Primary Assembly	O60500

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 1161 reference articles

Variant Information NPHS1 adhesion molecule, nephrin (NPHS1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene NPHS1 adhesion molecule, nephrin (NPHS1)

ClinVar variants:Revealing mutagenic patterns

GO Term of NPHS1 adhesion molecule, nephrin (NPHS1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	16525419 21858180 22662192
2	Homo sapiens	IDA	located_in	plasma membrane	Component	17464107
3	Homo sapiens	ISS	located_in	plasma membrane	Component	-
4	Homo sapiens	TAS	located_in	plasma membrane	Component	-
5	Homo sapiens	IBA	is_active_in	cell-cell junction	Component	21873635
6	Homo sapiens	IEA	located_in	focal adhesion	Component	-
7	Homo sapiens	IEA	involved_in	JNK cascade	Process	-
8	Homo sapiens	IEA	involved_in	skeletal muscle tissue development	Process	-
9	Homo sapiens	IEA	involved_in	myoblast fusion	Process	-
10	Homo sapiens	IPI	enables	myosin binding	Function	21402783
11	Homo sapiens	IEA	involved_in	positive regulation of actin filament polymerization	Process	-
12	Homo sapiens	IEP	involved_in	glomerular basement membrane development	Process	17464107
13	Homo sapiens	IGI	involved_in	protein localization to synapse	Process	21858180
14	Homo sapiens	ISS	located_in	slit diaphragm	Component	-
15	Homo sapiens	ISS	involved_in	slit diaphragm assembly	Process	-
16	Homo sapiens	TAS	involved_in	slit diaphragm assembly	Process	9660941
17	Homo sapiens	IEA	located_in	cell projection	Component	-
18	Homo sapiens	IBA	enables	cell adhesion molecule binding	Function	21873635
19	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867
20	Homo sapiens	IEP	involved_in	podocyte development	Process	17464107
21	Homo sapiens	IBA	involved_in	cell-cell adhesion	Process	21873635