例如:"NBL1", "4681", "drought"
收藏
51103 NDUFAF1

51103

NDUFAF1

NADH:ubiquinone oxidoreductase complex assembly factor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition NADH:ubiquinone oxidoreductase complex assembly factor 1

研究结论

Date Results Publications
2016-09-17 10:17:00 a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. 24963768
2016-01-16 10:17:00 oncogenic K-Ras is able to induce significant alterations in mitochondrial protein expression, and identified NDUFAF1 as an important molecule whose low expression contributes to mitochondrial dysfunction induced by K-Ras. 25714130
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease 17557076
2010-01-21 00:00:00 Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1. 17344420

名称对应

Type IDs
Synonymous CGI-65, CGI65, CIA30, MC1DN11
Gene
UniProtKB-ID: CIA30_HUMAN, A0A024R9L0_HUMAN
UniprotKB: Q9Y375, A0A024R9L0
UniParc: UPI0000127985
EMBL: BC000780, CH471125, AF151823
Ensembl: ENSG00000137806
KO: hsa:51103
Nucleutide sequences
EMBL-CDS: AAH00780.1, AAD34060.1, EAW92488.1, EAW92489.1, EAW92487.1
Gene_ORFName: CGI-65, hCG_1786788
Ensembl_TRS: ENST00000260361
Protein sequencees
Ensembl_PRO: ENSP00000260361
RefSeq: XP_006720618.1, NP_057097.2, XP_011519961.1, XP_011519960.1, XP_024305713.1
Others
UniRef100: UniRef100_Q9Y375
UniRef90: UniRef90_Q9Y375
UniRef50: UniRef50_Q9Y375
UniGene: Hs.106529
CCDS: CCDS10075.1

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员