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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

Gene

NDUFAF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371).2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Alternative name(s):
B17.2-like
Short name:
B17.2L
Mimitin1 Publication
Myc-induced mitochondrial protein1 Publication
Short name:
MMTN1 Publication
NDUFA12-like protein
Gene namesi
Name:NDUFAF2
Synonyms:NDUFA12L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000164182.10.
HGNCiHGNC:28086. NDUFAF2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
See also OMIM:252010
Leigh syndrome (LS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000

Keywords - Diseasei

Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi91942.
MalaCardsiNDUFAF2.
MIMi252010. phenotype.
256000. phenotype.
OpenTargetsiENSG00000164182.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA162397398.

Chemistry databases

ChEMBLiCHEMBL2363065.

Polymorphism and mutation databases

BioMutaiNDUFAF2.
DMDMi67461055.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000020054? – 169NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei134PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N183.
MaxQBiQ8N183.
PaxDbiQ8N183.
PeptideAtlasiQ8N183.
PRIDEiQ8N183.
TopDownProteomicsiQ8N183.

PTM databases

iPTMnetiQ8N183.
PhosphoSitePlusiQ8N183.

Expressioni

Tissue specificityi

Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.2 Publications

Inductioni

By MYC. Direct transcriptional target of MYC.1 Publication

Gene expression databases

BgeeiENSG00000164182.
CleanExiHS_NDUFAF2.
ExpressionAtlasiQ8N183. baseline and differential.
GenevisibleiQ8N183. HS.

Organism-specific databases

HPAiHPA048082.
HPA054776.

Interactioni

Protein-protein interaction databases

BioGridi124893. 18 interactors.
IntActiQ8N183. 3 interactors.
STRINGi9606.ENSP00000296597.

Structurei

3D structure databases

ProteinModelPortaliQ8N183.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFA12 subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IZ9U. Eukaryota.
ENOG4111PFA. LUCA.
GeneTreeiENSGT00390000002743.
HOGENOMiHOG000013096.
HOVERGENiHBG054904.
InParanoidiQ8N183.
KOiK18160.
OMAiHLGNKYY.
OrthoDBiEOG091G0W86.
PhylomeDBiQ8N183.
TreeFamiTF314761.

Family and domain databases

InterProiView protein in InterPro
IPR007763. NDUFA12.
PfamiView protein in Pfam
PF05071. NDUFA12. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8N183-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGWSQDLFRA LWRSLSREVK EHVGTDQFGN KYYYIPQYKN WRGQTIREKR
60 70 80 90 100
IVEAANKKEV DYEAGDIPTE WEAWIRRTRK TPPTMEEILK NEKHREEIKI
110 120 130 140 150
KSQDFYEKEK LLSKETSEEL LPPPVQTQIK GHASAPYFGK EEPSVAPSST
160
GKTFQPGSWM PRDGKSHNQ
Length:169
Mass (Da):19,856
Last modified:October 1, 2002 - v1
Checksum:i3D72AE8B5942E0FA
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB183433 mRNA. Translation: BAD91205.1.
AK291296 mRNA. Translation: BAF83985.1.
CH471123 Genomic DNA. Translation: EAW55008.1.
BC001753 mRNA. Translation: AAH01753.2.
BC033965 mRNA. Translation: AAH33965.1.
CCDSiCCDS3979.1.
RefSeqiNP_777549.1. NM_174889.4.
UniGeneiHs.591757.

Genome annotation databases

EnsembliENST00000296597; ENSP00000296597; ENSG00000164182.
GeneIDi91942.
KEGGihsa:91942.
UCSCiuc003jsp.4. human.

Similar proteinsi

Entry informationi

Entry nameiNDUF2_HUMAN
AccessioniPrimary (citable) accession number: Q8N183
Secondary accession number(s): A8K5I1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: October 1, 2002
Last modified: September 27, 2017
This is version 124 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families