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NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 [ Homo sapiens (human) ]

Gene ID: 91942, updated on 12-Oct-2019

Summary

Official Symbol
NDUFAF2provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase complex assembly factor 2provided by HGNC
Primary source
HGNC:HGNC:28086
See related
Ensembl:ENSG00000164182 MIM:609653
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MMTN; B17.2L; MC1DN10; mimitin; NDUFA12L
Summary
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 14.6), adrenal (RPKM 11.1) and 25 other tissues See more
Orthologs

Genomic context

See NDUFAF2 in Genome Data Viewer
Location:
5q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (60945205..61153026)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (60240956..60448864)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ERCC excision repair 8, CSA ubiquitin ligase complex subunit Neighboring gene G protein nucleolar 3 like pseudogene 1 Neighboring gene ERCC8 antisense RNA 1 Neighboring gene SMIM15 antisense RNA 1 Neighboring gene small integral membrane protein 15 Neighboring gene long intergenic non-protein coding RNA 2057

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22398

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
respiratory electron transport chain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Names
Myc-induced mitochondrial protein
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NADH dehydrogenase 1 alpha subcomplex assembly factor 2
NDUFA12-like protein
mimitin, mitochondrial

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008978.1 RefSeqGene

    Range
    5077..212898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_174889.5NP_777549.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

    See identical proteins and their annotated locations for NP_777549.1

    Status: REVIEWED

    Source sequence(s)
    AC022445, AK026051, BC001753
    Consensus CDS
    CCDS3979.1
    UniProtKB/Swiss-Prot
    Q8N183
    UniProtKB/TrEMBL
    A0A0S2Z5U1
    Related
    ENSP00000296597.5, ENST00000296597.10
    Conserved Domains (1) summary
    pfam05071
    Location:2390
    NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    60945205..61153026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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