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4723 NDUFV1

4723

NDUFV1

NADH:ubiquinone oxidoreductase core subunit V1

protein-coding

Homo sapiens

基因描述

Type Description
Definition NADH:ubiquinone oxidoreductase core subunit V1

研究结论

Date Results Publications
2019-03-16 13:01:00 Biallelic missense variants in NDUFV1 were identified in two cases of mitochondrial complex I deficiency. 29976978
2018-11-24 12:06:00 Mutations in the ND6, NDUFV1 or ACAD9 genes are responsible for the mitochondrial complex I deficiency. 29348607
2016-09-17 11:33:00 we have used a yeast model system to study the molecular consequences of 16 single amino acid substitutions, classified as pathogenic, in the NDUFV1 subunit of complex I 26345448
2015-11-21 10:52:00 The presented clinical courses of NDUFV1 and NDUFS1 mutation-based complex I deficiencies are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum. 25615419
2015-04-18 12:02:00 small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative developmental/neuropsychiatric susceptibility gene(s), GSTP1 and NDUFV1. 25432440

名称对应

Type IDs
Synonymous CI-51K, CI51KD, MC1DN4, UQOR1
Gene
UniProtKB-ID: NDUV1_HUMAN, E5KNH5_HUMAN
UniprotKB: P49821, E5KNH5
UniParc: UPI000002AFD2, UPI00001308A7
EMBL: HQ205293, HQ205285, AH004147, Y17381, HQ205298, HQ205276, HQ205290, HQ205299, CR456739, HQ205294, HQ205277, HQ205292, HQ205291, Y17379, HQ205273, HQ205286, HQ205297, HQ205268, HQ205271, HQ205270, HQ205272, CH471076, HQ205303, HQ205281, HQ205302, HQ205275, HQ205301, HQ205266, HQ205282, HQ205289, AF092131, AF053070, HQ205283, HQ205274, HQ205269, S67973, HQ205300, HQ205295, Y17383, Y17382, Y17380, AF053069, HQ205287, HQ205278, HQ205284, HQ205304, HQ205288, BC015645, HQ205280, HQ205267, HQ205279, HQ205305, HQ205296, BC008146
Ensembl: ENSG00000167792
KO: hsa:4723
Nucleutide sequences
EMBL-CDS: AAH08146.1, AAC39750.1, AAD40373.1, AAB24883.1, EAW74655.1, CAG33020.1, AAB29698.2, AAH15645.1, CAA76757.1, AAC39722.1, ADP90738.1, ADP90764.1, ADP90759.1, ADP90746.1, ADP90773.1, ADP90748.1, ADP90754.1, ADP90763.1, ADP90744.1, ADP90768.1, ADP90737.1, ADP90758.1, ADP90766.1, ADP90734.1, ADP90757.1, ADP90765.1, ADP90742.1, ADP90750.1, ADP90762.1, ADP90756.1, ADP90772.1, ADP90752.1, ADP90769.1, ADP90753.1, ADP90736.1, ADP90741.1, ADP90747.1, ADP90770.1, ADP90749.1, ADP90761.1, ADP90771.1, ADP90739.1, ADP90735.1, ADP90740.1, ADP90760.1, ADP90751.1, ADP90767.1, ADP90745.1, ADP90743.1, ADP90755.1, EAW74656.1
Gene_ORFName: hCG_21057
Ensembl_TRS: ENST00000529927, ENST00000647561, ENST00000322776
Protein sequencees
Ensembl_PRO: ENSP00000322450, ENSP00000497587, ENSP00000436766
RefSeq: NP_001159574.1, NP_009034.2
Others
UniRef100: UniRef100_P49821
UniRef90: UniRef90_P49821
UniRef50: UniRef50_P49821
UniGene: Hs.7744
CCDS: CCDS8173.1, CCDS53669.1

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