NUP107 (nucleoporin 107)

2014-06-01 Affiliation

Identity

HGNC

NUP107

LOCATION

12q15

LOCUSID

57122

ALIAS

NPHS11,NUP84,ODG6,ODG6,

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57122
MIM: 607617
HGNC: 29914
Ensembl: ENSG00000111581

Variants:

dbSNP: 57122
ClinVar: 57122
TCGA: ENSG00000111581
COSMIC: NUP107

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000111581	ENST00000229179	P57740
ENSG00000111581	ENST00000378905	P57740
ENSG00000111581	ENST00000535718	G3V1T4
ENSG00000111581	ENST00000538549	F5GY77
ENSG00000111581	ENST00000538993	H0YG15
ENSG00000111581	ENST00000539906	P57740

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
RNA transport	KEGG	ko03013
RNA transport	KEGG	hsa03013
Nuclear pore complex	KEGG	hsa_M00427
Nuclear pore complex	KEGG	M00427
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
SUMOylation	REACTOME	R-HSA-2990846
SUMO E3 ligases SUMOylate target proteins	REACTOME	R-HSA-3108232
SUMOylation of DNA damage response and repair proteins	REACTOME	R-HSA-3108214
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
HIV Life Cycle	REACTOME	R-HSA-162587
Late Phase of HIV Life Cycle	REACTOME	R-HSA-162599
Rev-mediated nuclear export of HIV RNA	REACTOME	R-HSA-165054
Host Interactions of HIV factors	REACTOME	R-HSA-162909
Interactions of Vpr with host cellular proteins	REACTOME	R-HSA-176033
Vpr-mediated nuclear import of PICs	REACTOME	R-HSA-180910
Interactions of Rev with host cellular proteins	REACTOME	R-HSA-177243
Nuclear import of Rev protein	REACTOME	R-HSA-180746
Influenza Infection	REACTOME	R-HSA-168254
Influenza Life Cycle	REACTOME	R-HSA-168255
Transport of Ribonucleoproteins into the Host Nucleus	REACTOME	R-HSA-168271
Influenza Viral RNA Transcription and Replication	REACTOME	R-HSA-168273
Viral Messenger RNA Synthesis	REACTOME	R-HSA-168325
Export of Viral Ribonucleoproteins from Nucleus	REACTOME	R-HSA-168274
NEP/NS2 Interacts with the Cellular Export Machinery	REACTOME	R-HSA-168333
Host Interactions with Influenza Factors	REACTOME	R-HSA-168253
NS1 Mediated Effects on Host Pathways	REACTOME	R-HSA-168276
Immune System	REACTOME	R-HSA-168256
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Interferon Signaling	REACTOME	R-HSA-913531
Antiviral mechanism by IFN-stimulated genes	REACTOME	R-HSA-1169410
ISG15 antiviral mechanism	REACTOME	R-HSA-1169408
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Rho GTPases	REACTOME	R-HSA-194315
RHO GTPase Effectors	REACTOME	R-HSA-195258
RHO GTPases Activate Formins	REACTOME	R-HSA-5663220
Gene Expression	REACTOME	R-HSA-74160
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
Transport of Mature Transcript to Cytoplasm	REACTOME	R-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing Transcript	REACTOME	R-HSA-159236
Transport of Mature mRNAs Derived from Intronless Transcripts	REACTOME	R-HSA-159234
Transport of the SLBP Dependant Mature mRNA	REACTOME	R-HSA-159230
Transport of the SLBP independent Mature mRNA	REACTOME	R-HSA-159227
Transport of Mature mRNA Derived from an Intronless Transcript	REACTOME	R-HSA-159231
Gene Silencing by RNA	REACTOME	R-HSA-211000
Transcriptional regulation by small RNAs	REACTOME	R-HSA-5578749
Metabolism of non-coding RNA	REACTOME	R-HSA-194441
snRNP Assembly	REACTOME	R-HSA-191859
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
M Phase	REACTOME	R-HSA-68886
Mitotic Prophase	REACTOME	R-HSA-68875
Nuclear Envelope Breakdown	REACTOME	R-HSA-2980766
Nuclear Pore Complex (NPC) Disassembly	REACTOME	R-HSA-3301854
Mitotic Prometaphase	REACTOME	R-HSA-68877
Resolution of Sister Chromatid Cohesion	REACTOME	R-HSA-2500257
Mitotic Metaphase and Anaphase	REACTOME	R-HSA-2555396
Mitotic Anaphase	REACTOME	R-HSA-68882
Separation of Sister Chromatids	REACTOME	R-HSA-2467813
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Hexose transport	REACTOME	R-HSA-189200
Glucose transport	REACTOME	R-HSA-70153
Regulation of Glucokinase by Glucokinase Regulatory Protein	REACTOME	R-HSA-170822
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular response to heat stress	REACTOME	R-HSA-3371556
Regulation of HSF1-mediated heat shock response	REACTOME	R-HSA-3371453
tRNA processing	REACTOME	R-HSA-72306
tRNA processing in the nucleus	REACTOME	R-HSA-6784531
SUMOylation of RNA binding proteins	REACTOME	R-HSA-4570464
SUMOylation of DNA replication proteins	REACTOME	R-HSA-4615885

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA164713176	Platinum compounds	Chemical	VariantAnnotation	associated		PD	28562428
PA445204	Ovarian Neoplasms	Disease	VariantAnnotation	associated		PD	28562428

References

Pubmed ID	Year	Title	Citations
38650033	2024	Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.	0
38650033	2024	Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.	0
29363275	2018	Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.	14
29363275	2018	Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.	14
27190346	2017	NUP107 mutations in children with steroid-resistant nephrotic syndrome.	16
28280135	2017	Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.	45
28562428	2017	Single nucleotide variant in Nucleoporin 107 may be predictive of sensitivity to chemotherapy in patients with ovarian cancer.	8
27190346	2017	NUP107 mutations in children with steroid-resistant nephrotic syndrome.	16
28280135	2017	Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.	45
28562428	2017	Single nucleotide variant in Nucleoporin 107 may be predictive of sensitivity to chemotherapy in patients with ovarian cancer.	8
25695197	2015	DNA damage-induced nuclear translocation of Apaf-1 is mediated by nucleoporin Nup107.	12
25904327	2015	Intranuclear dynamics of the Nup107-160 complex.	24
26411495	2015	Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.	55
26485283	2015	A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.	33
25695197	2015	DNA damage-induced nuclear translocation of Apaf-1 is mediated by nucleoporin Nup107.	12

Citation

Dessen P

NUP107 (nucleoporin 107)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54020/nup107-(nucleoporin-107)