GenTIGS

Nucleoporin 107 (NUP107) Associated conditions: 1. Galloway-Mowat 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_001330192.2	NP_001317121.1	NC_000012.12	(68686977..68745808)	Reference GRCh38.p14 Primary Assembly	P57740
2	REVIEWED	NM_020401.4	NP_065134.1	NC_000012.12	(68686977..68745808)	Reference GRCh38.p14 Primary Assembly	P57740

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 1139 reference articles

Variant Information Nucleoporin 107 (NUP107) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Nucleoporin 107 (NUP107)

ClinVar variants:Revealing mutagenic patterns

GO Term of Nucleoporin 107 (NUP107)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	colocalizes_with	kinetochore	Component	17363900
2	Homo sapiens	IBA	involved_in	post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery	Process	21873635
3	Homo sapiens	IPI	enables	protein binding	Function	11564755 15146057 17363900 24407287 26411495 26496610 27194810 30179222
4	Homo sapiens	IDA	located_in	nuclear envelope	Component	24315095
5	Homo sapiens	TAS	located_in	nuclear envelope	Component	-
6	Homo sapiens	IDA	part_of	nuclear pore	Component	11564755 11684705 12802065 15229283 26411495
7	Homo sapiens	NAS	part_of	nuclear pore	Component	24315095
8	Homo sapiens	TAS	located_in	cytosol	Component	-
9	Homo sapiens	IBA	involved_in	mRNA export from nucleus	Process	21873635
10	Homo sapiens	IDA	involved_in	mRNA export from nucleus	Process	11684705
11	Homo sapiens	IBA	involved_in	protein import into nucleus	Process	21873635
12	Homo sapiens	NAS	involved_in	nucleocytoplasmic transport	Process	27016207
13	Homo sapiens	IMP	involved_in	female gonad development	Process	26485283
14	Homo sapiens	HDA	located_in	membrane	Component	19946888
15	Homo sapiens	IBA	enables	structural constituent of nuclear pore	Function	21873635
16	Homo sapiens	IDA	enables	structural constituent of nuclear pore	Function	11684705
17	Homo sapiens	IMP	enables	structural constituent of nuclear pore	Function	15229283
18	Homo sapiens	IBA	part_of	nuclear pore outer ring	Component	21873635
19	Homo sapiens	IDA	part_of	nuclear pore outer ring	Component	17360435
20	Homo sapiens	NAS	part_of	nuclear pore outer ring	Component	15146057 17363900
21	Homo sapiens	IDA	located_in	nuclear membrane	Component	12802065 15229283
22	Homo sapiens	IDA	located_in	nuclear periphery	Component	15229283
23	Homo sapiens	IMP	involved_in	nuclear pore complex assembly	Process	15229283
24	Homo sapiens	IMP	involved_in	nephron development	Process	30179222