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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

Gene

NDUFAF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi609653 gene
neXtProtiNX_Q8N183

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
ProteomicsDBi71569
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 Expressed in 92 organ(s), highest expression level in frontal cortex
CleanExiHS_NDUFAF2
ExpressionAtlasiQ8N183 baseline and differential
GenevisibleiQ8N183 HS

Organism-specific databases

HPAiHPA048082
HPA054776

Interactioni

Protein-protein interaction databases

BioGridi124893, 18 interactors
IntActiQ8N183, 15 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

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RA56D6RA56_HUMAN
NADH dehydrogenase [ubiquinone] 1 a...
NDUFAF2
60Annotation score:
H0YA50H0YA50_HUMAN
NADH dehydrogenase [ubiquinone] 1 a...
NDUFAF2
51Annotation score:

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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ8N183
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124893, 18 interactors
IntActiQ8N183, 15 interactors
STRINGi9606.ENSP00000296597

Chemistry databases

ChEMBLiCHEMBL2363065

PTM databases

iPTMnetiQ8N183
PhosphoSitePlusiQ8N183

Polymorphism and mutation databases

BioMutaiNDUFAF2
DMDMi67461055

Proteomic databases

EPDiQ8N183
MaxQBiQ8N183
PaxDbiQ8N183
PeptideAtlasiQ8N183
PRIDEiQ8N183
ProteomicsDBi71569
TopDownProteomicsiQ8N183

Protocols and materials databases

DNASUi91942
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi91942
DisGeNETi91942
EuPathDBiHostDB:ENSG00000164182.10
GeneCardsiNDUFAF2
HGNCiHGNC:28086 NDUFAF2
HPAiHPA048082
HPA054776
MalaCardsiNDUFAF2
MIMi252010 phenotype
256000 phenotype
609653 gene
neXtProtiNX_Q8N183
OpenTargetsiENSG00000164182
Orphaneti2609 Isolated NADH-CoQ reductase deficiency
PharmGKBiPA162397398
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRSiNDUFAF2 human
GenomeRNAii91942
PROiPR:Q8N183
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164182 Expressed in 92 organ(s), highest expression level in frontal cortex
CleanExiHS_NDUFAF2
ExpressionAtlasiQ8N183 baseline and differential
GenevisibleiQ8N183 HS

Family and domain databases

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

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 12, 2018
This is version 130 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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