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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2

Gene

NDUFA2

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

Functioni

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. 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.

GO - Molecular functioni

  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

BioCyciZFISH:HS05539-MONOMER.
ReactomeiR-HSA-611105. Respiratory electron transport.
R-HSA-6799198. Complex I biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
Alternative name(s):
Complex I-B8
Short name:
CI-B8
NADH-ubiquinone oxidoreductase B8 subunit
Gene namesi
Name:NDUFA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:7685. NDUFA2.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: Reactome
  • mitochondrial membrane Source: UniProtKB
  • mitochondrial respiratory chain complex I Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi4695.
MalaCardsiNDUFA2.
OpenTargetsiENSG00000131495.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31491.

Chemistry databases

ChEMBLiCHEMBL2363065.

Polymorphism and mutation databases

BioMutaiNDUFA2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001187892 – 99NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2Add BLAST98

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Disulfide bondi24 ↔ 58Redox-active1 Publication
Modified residuei64N6-acetyllysine; alternateBy similarity1
Modified residuei64N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Disulfide bond

Proteomic databases

EPDiO43678.
MaxQBiO43678.
PaxDbiO43678.
PeptideAtlasiO43678.
PRIDEiO43678.
TopDownProteomicsiO43678-1. [O43678-1]

PTM databases

iPTMnetiO43678.
PhosphoSitePlusiO43678.
SwissPalmiO43678.

Expressioni

Gene expression databases

BgeeiENSG00000131495.
CleanExiHS_NDUFA2.
GenevisibleiO43678. HS.

Organism-specific databases

HPAiHPA035933.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.1 Publication

Protein-protein interaction databases

BioGridi110775. 76 interactors.
IntActiO43678. 41 interactors.
STRINGi9606.ENSP00000252102.

Structurei

Secondary structure

199
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi16 – 22Combined sources7
Beta strandi25 – 27Combined sources3
Helixi31 – 39Combined sources9
Helixi41 – 47Combined sources7
Beta strandi53 – 56Combined sources4
Beta strandi60 – 62Combined sources3
Beta strandi64 – 71Combined sources8
Beta strandi74 – 78Combined sources5
Helixi84 – 97Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S3ANMR-A1-99[»]
ProteinModelPortaliO43678.
SMRiO43678.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO43678.

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3446. Eukaryota.
ENOG41124JV. LUCA.
GeneTreeiENSGT00390000006178.
HOGENOMiHOG000201916.
HOVERGENiHBG082012.
InParanoidiO43678.
KOiK03946.
OMAiSAGTRQF.
OrthoDBiEOG091G10SA.
PhylomeDBiO43678.
TreeFamiTF300229.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR016464. NADH_Ub_cplx-1_asu_su-2.
IPR007741. Ribosome/NADH_DH.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERiPTHR12878. PTHR12878. 1 hit.
PfamiPF05047. L51_S25_CI-B8. 1 hit.
[Graphical view]
PIRSFiPIRSF005822. NDUA2. 1 hit.
SMARTiSM00916. L51_S25_CI-B8. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43678-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAAASRGV GAKLGLREIR IHLCQRSPGS QGVRDFIEKR YVELKKANPD
60 70 80 90
LPILIRECSD VQPKLWARYA FGQETNVPLN NFSADQVTRA LENVLSGKA
Length:99
Mass (Da):10,922
Last modified:January 23, 2007 - v3
Checksum:iEF026F193CAF1DF7
GO
Isoform 2 (identifier: O43678-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-99: FGQETNVPLNNFSADQVTRALENVLSGKA → SRVQNS

Show »
Length:76
Mass (Da):8,491
Checksum:iE533D33E797CE167
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03617450D → N in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04547971 – 99FGQET…LSGKA → SRVQNS in isoform 2. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047185 mRNA. Translation: AAC04270.1.
AB054976 Genomic DNA. Translation: BAB21453.1.
AF077029 mRNA. Translation: AAD27762.1.
AV705564 mRNA. No translation available.
CR457016 mRNA. Translation: CAG33297.1.
AC116353 Genomic DNA. No translation available.
BC003674 mRNA. Translation: AAH03674.1.
CCDSiCCDS4234.1. [O43678-1]
CCDS54911.1. [O43678-2]
PIRiJC5824.
RefSeqiNP_001171941.1. NM_001185012.1. [O43678-2]
NP_002479.1. NM_002488.4. [O43678-1]
UniGeneiHs.75914.

Genome annotation databases

EnsembliENST00000252102; ENSP00000252102; ENSG00000131495. [O43678-1]
ENST00000512088; ENSP00000427220; ENSG00000131495. [O43678-2]
GeneIDi4695.
KEGGihsa:4695.
UCSCiuc003lgp.4. human. [O43678-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047185 mRNA. Translation: AAC04270.1.
AB054976 Genomic DNA. Translation: BAB21453.1.
AF077029 mRNA. Translation: AAD27762.1.
AV705564 mRNA. No translation available.
CR457016 mRNA. Translation: CAG33297.1.
AC116353 Genomic DNA. No translation available.
BC003674 mRNA. Translation: AAH03674.1.
CCDSiCCDS4234.1. [O43678-1]
CCDS54911.1. [O43678-2]
PIRiJC5824.
RefSeqiNP_001171941.1. NM_001185012.1. [O43678-2]
NP_002479.1. NM_002488.4. [O43678-1]
UniGeneiHs.75914.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S3ANMR-A1-99[»]
ProteinModelPortaliO43678.
SMRiO43678.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110775. 76 interactors.
IntActiO43678. 41 interactors.
STRINGi9606.ENSP00000252102.

Chemistry databases

ChEMBLiCHEMBL2363065.

PTM databases

iPTMnetiO43678.
PhosphoSitePlusiO43678.
SwissPalmiO43678.

Polymorphism and mutation databases

BioMutaiNDUFA2.

Proteomic databases

EPDiO43678.
MaxQBiO43678.
PaxDbiO43678.
PeptideAtlasiO43678.
PRIDEiO43678.
TopDownProteomicsiO43678-1. [O43678-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252102; ENSP00000252102; ENSG00000131495. [O43678-1]
ENST00000512088; ENSP00000427220; ENSG00000131495. [O43678-2]
GeneIDi4695.
KEGGihsa:4695.
UCSCiuc003lgp.4. human. [O43678-1]

Organism-specific databases

CTDi4695.
DisGeNETi4695.
GeneCardsiNDUFA2.
HGNCiHGNC:7685. NDUFA2.
HPAiHPA035933.
MalaCardsiNDUFA2.
MIMi602137. gene.
neXtProtiNX_O43678.
OpenTargetsiENSG00000131495.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31491.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3446. Eukaryota.
ENOG41124JV. LUCA.
GeneTreeiENSGT00390000006178.
HOGENOMiHOG000201916.
HOVERGENiHBG082012.
InParanoidiO43678.
KOiK03946.
OMAiSAGTRQF.
OrthoDBiEOG091G10SA.
PhylomeDBiO43678.
TreeFamiTF300229.

Enzyme and pathway databases

BioCyciZFISH:HS05539-MONOMER.
ReactomeiR-HSA-611105. Respiratory electron transport.
R-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

EvolutionaryTraceiO43678.
GeneWikiiNDUFA2.
GenomeRNAii4695.
PROiO43678.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131495.
CleanExiHS_NDUFA2.
GenevisibleiO43678. HS.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR016464. NADH_Ub_cplx-1_asu_su-2.
IPR007741. Ribosome/NADH_DH.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERiPTHR12878. PTHR12878. 1 hit.
PfamiPF05047. L51_S25_CI-B8. 1 hit.
[Graphical view]
PIRSFiPIRSF005822. NDUA2. 1 hit.
SMARTiSM00916. L51_S25_CI-B8. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNDUA2_HUMAN
AccessioniPrimary (citable) accession number: O43678
Secondary accession number(s): D6RJD6, Q6IAY8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 156 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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.