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27247 NFU1

27247

NFU1

NFU1 iron-sulfur cluster scaffold

protein-coding

Homo sapiens

基因描述

Type Description
Definition NFU1 iron-sulfur cluster scaffold

研究结论

Date Results Publications
2021-02-06 13:56:00 Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. 31970900
2018-12-22 11:28:00 data support a hypothesis in which Nfu can serve as an alternative carrier protein for chaperone-mediated cluster release and delivery in Fe-S cluster biogenesis and trafficking 29211945
2018-12-08 11:44:00 NFU1 gene mutations may cause severe mitochondrial respiratory chain defects, mitochondrial encephalomyopathies and death, early in life (Review) 27381105
2018-03-31 11:53:00 Novel NFU1 variants were identified in Chinese patients with multiple mitochondrial dysfunctions syndrome. 28470589
2017-12-02 10:59:00 Gly189Arg substitution on NFU1 is associated with multiple mitochondrial dysfunctions syndrome 1. 28906594

名称对应

Type IDs
Synonymous CGI-33, HIRIP, HIRIP5, MMDS1, NIFUC, Nfu, NifU
Gene
UniProtKB-ID: NFU1_HUMAN
UniprotKB: Q9UMS0
UniParc: UPI00001B3DB0, UPI00001B3DAF, UPI00003FEC67
EMBL: AC114772, AK314004, AY286306, BC113692, AY286307, AJ132584, AF132967, CH471053, BC113694, DB304061, AK300700, AY335194
Ensembl: ENSG00000169599
KO: hsa:27247
Nucleutide sequences
EMBL-CDS: AAP92372.1, AAD27742.1, BAG62381.1, EAW99850.1, AAY14828.1, AAP92373.1, AAI13693.1, EAW99849.1, CAB53015.1, BAG36716.1, AAI13695.1, AAQ73784.1
Gene_ORFName: CGI-33
Ensembl_TRS: ENST00000410022, ENST00000303698, ENST00000462320, ENST00000394305
Protein sequencees
Ensembl_PRO: ENSP00000387219, ENSP00000418598, ENSP00000306965, ENSP00000377842
RefSeq: NP_001361213.1, NP_056515.2, NP_001002756.1, NP_001002755.1
Others
UniRef100: UniRef100_Q9UMS0
UniRef90: UniRef90_Q9UMS0
UniRef50: UniRef50_Q9UMS0
UniGene: Hs.430439
CCDS: CCDS42694.1, CCDS46315.1, CCDS33217.1

全选

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