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4689 NCF4

4689

NCF4

neutrophil cytosolic factor 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition neutrophil cytosolic factor 4

研究结论

Date Results Publications
2019-09-28 12:03:00 We report on 24 p40phox-deficient patients from 12 additional families in 8 countries. These patients display 8 different in-frame or out-of-frame mutations of NCF4 that are homozygous in 11 of the families and compound heterozygous in another. 29969437
2019-03-09 12:36:00 Tyrosine kinase substrate (Tks) proteins, analogous to the related proteins p47(phox), p40(phox) and NoxO1, also facilitate local generation of reactive oxygen species which aid in signaling at invadopodia and/or podosomes to promote their activity. As their name suggests, Tks adaptor proteins are substrates for tyrosine kinases, especially Src. [review] 29311151
2017-09-09 13:29:00 Phosphoinositol 3-phosphate regulates reactive oxygen species production by maintaining p40phox and p67phox at the phagosomal membrane. 28096301
2016-06-28 11:19:00 NCF4 polymorphism was associated with Crohn's disease, but not ulcerative colitis in Caucasian--{REVIEW} 26289093
2014-09-27 11:03:00 NCF4 may induce ex- pression of NADPH oxidase enzymes, such as p67phox, p47phox, p22phox and NOX2, which lead to increased levels. 24378533

名称对应

Type IDs
Synonymous CGD3, NCF, P40PHOX, SH3PXD4
Gene
UniProtKB-ID: NCF4_HUMAN, A0A494BZS1_HUMAN
UniprotKB: Q15080, A0A494BZS1
UniParc: UPI0007DC832C, UPI000013CC59, UPI0000049C2C
EMBL: AL008637, U50721, U50726, U50722, U50723, U50724, CR456528, AB025220, U50728, BT007346, AK290924, U50725, U50729, BC002798, U50727, X77094, DQ314880, U50720, AB025219
Ensembl: ENSG00000100365
KO: hsa:4689
Nucleutide sequences
EMBL-CDS: AAH02798.1, BAA89791.1, AAB39970.1, BAA89792.1, CAG30414.1, BAF83613.1, AAP36010.1, ABC40739.1, CAA54372.1
Ensembl_TRS: ENST00000248899, ENST00000397147, ENST00000650698, ENST00000650827
Protein sequencees
Ensembl_PRO: ENSP00000248899, ENSP00000380334, ENSP00000498381, ENSP00000498212
RefSeq: NP_038202.2, NP_000622.2, XP_016884297.1
Others
UniRef100: UniRef100_Q15080
UniRef90: UniRef90_Q15080
UniRef50: UniRef50_Q15080
UniGene: Hs.474781
CCDS: CCDS13935.1, CCDS13934.1

全选

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