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Protein

Mimitin, mitochondrial

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.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Enzyme and pathway databases

BioCyciZFISH:HS15164-MONOMER.
ReactomeiR-HSA-6799198. Complex I biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Mimitin, mitochondrial
Alternative name(s):
B17.2-like
Short name:
B17.2L
Myc-induced mitochondrial protein
Short name:
MMTN
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
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

HGNCiHGNC:28086. NDUFAF2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

Organism-specific databases

DisGeNETi91942.
MalaCardsiNDUFAF2.
MIMi252010. 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? – 169Mimitin, mitochondrial
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. 15 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

InterProiIPR007763. NDUFA12.
[Graphical view]
PfamiPF05071. NDUFA12. 1 hit.
[Graphical view]

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.

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. 15 interactors.
IntActiQ8N183. 3 interactors.
STRINGi9606.ENSP00000296597.

Chemistry databases

ChEMBLiCHEMBL2363065.

PTM databases

iPTMnetiQ8N183.
PhosphoSitePlusiQ8N183.

Polymorphism and mutation databases

BioMutaiNDUFAF2.
DMDMi67461055.

Proteomic databases

EPDiQ8N183.
MaxQBiQ8N183.
PaxDbiQ8N183.
PeptideAtlasiQ8N183.
PRIDEiQ8N183.
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.
GeneCardsiNDUFAF2.
HGNCiHGNC:28086. NDUFAF2.
HPAiHPA048082.
HPA054776.
MalaCardsiNDUFAF2.
MIMi252010. 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

BioCyciZFISH:HS15164-MONOMER.
ReactomeiR-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

ChiTaRSiNDUFAF2. human.
GenomeRNAii91942.
PROiQ8N183.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

InterProiIPR007763. NDUFA12.
[Graphical view]
PfamiPF05071. NDUFA12. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMIMIT_HUMAN
AccessioniPrimary (citable) accession number: Q8N183
Secondary accession number(s): A8K5I1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 119 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.