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O43678

- NDUA2_HUMAN

UniProt

O43678 - NDUA2_HUMAN

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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2

Gene

NDUFA2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  3. respiratory electron transport chain Source: Reactome
  4. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:7685. NDUFA2.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Reactome
  2. mitochondrial membrane Source: UniProtKB
  3. mitochondrial respiratory chain complex I Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 9998NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2PRO_0000118789Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Disulfide bondi24 ↔ 58Redox-active1 Publication
Modified residuei64 – 641N6-acetyllysine; alternateBy similarity
Modified residuei64 – 641N6-succinyllysine; alternateBy similarity

Keywords - PTMi

Acetylation, Disulfide bond

Proteomic databases

MaxQBiO43678.
PaxDbiO43678.
PeptideAtlasiO43678.
PRIDEiO43678.

PTM databases

PhosphoSiteiO43678.

Expressioni

Gene expression databases

BgeeiO43678.
CleanExiHS_NDUFA2.
GenevestigatoriO43678.

Organism-specific databases

HPAiHPA035933.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.1 Publication

Protein-protein interaction databases

BioGridi110775. 50 interactions.
IntActiO43678. 34 interactions.
STRINGi9606.ENSP00000252102.

Structurei

Secondary structure

1
99
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi16 – 227
Beta strandi25 – 273
Helixi31 – 399
Helixi41 – 477
Beta strandi53 – 564
Beta strandi60 – 623
Beta strandi64 – 718
Beta strandi74 – 785
Helixi84 – 9714

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1S3ANMR-A1-99[»]
ProteinModelPortaliO43678.
SMRiO43678. Positions 15-99.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO43678.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG252949.
GeneTreeiENSGT00390000006178.
HOGENOMiHOG000201916.
HOVERGENiHBG082012.
InParanoidiO43678.
KOiK03946.
OMAiSAGTRQF.
OrthoDBiEOG779P1D.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti50 – 501D → N in a breast cancer sample; somatic mutation. 1 Publication
VAR_036174

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei71 – 9929FGQET…LSGKA → SRVQNS in isoform 2. 1 PublicationVSP_045479Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [O43678-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS4234.1. [O43678-1 ]
CCDS54911.1. [O43678-2 ]
PIRi JC5824.
RefSeqi NP_001171941.1. NM_001185012.1. [O43678-2 ]
NP_002479.1. NM_002488.4. [O43678-1 ]
UniGenei Hs.75914.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1S3A NMR - A 1-99 [» ]
ProteinModelPortali O43678.
SMRi O43678. Positions 15-99.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110775. 50 interactions.
IntActi O43678. 34 interactions.
STRINGi 9606.ENSP00000252102.

Chemistry

ChEMBLi CHEMBL2363065.

PTM databases

PhosphoSitei O43678.

Proteomic databases

MaxQBi O43678.
PaxDbi O43678.
PeptideAtlasi O43678.
PRIDEi O43678.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252102 ; ENSP00000252102 ; ENSG00000131495 . [O43678-1 ]
ENST00000512088 ; ENSP00000427220 ; ENSG00000131495 . [O43678-2 ]
GeneIDi 4695.
KEGGi hsa:4695.
UCSCi uc003lgp.3. human. [O43678-1 ]

Organism-specific databases

CTDi 4695.
GeneCardsi GC05M140005.
HGNCi HGNC:7685. NDUFA2.
HPAi HPA035933.
MIMi 602137. gene.
neXtProti NX_O43678.
Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBi PA31491.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG252949.
GeneTreei ENSGT00390000006178.
HOGENOMi HOG000201916.
HOVERGENi HBG082012.
InParanoidi O43678.
KOi K03946.
OMAi SAGTRQF.
OrthoDBi EOG779P1D.
PhylomeDBi O43678.
TreeFami TF300229.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

EvolutionaryTracei O43678.
GeneWikii NDUFA2.
GenomeRNAii 4695.
NextBioi 18106.
PROi O43678.
SOURCEi Search...

Gene expression databases

Bgeei O43678.
CleanExi HS_NDUFA2.
Genevestigatori O43678.

Family and domain databases

Gene3Di 3.40.30.10. 1 hit.
InterProi IPR016464. NADH_Ub_cplx-1_asu_su-2.
IPR007741. Ribosome/NADH_DH.
IPR012336. Thioredoxin-like_fold.
[Graphical view ]
PANTHERi PTHR12878. PTHR12878. 1 hit.
Pfami PF05047. L51_S25_CI-B8. 1 hit.
[Graphical view ]
PIRSFi PIRSF005822. NDUA2. 1 hit.
SMARTi SM00916. L51_S25_CI-B8. 1 hit.
[Graphical view ]
SUPFAMi SSF52833. SSF52833. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits."
    Ton C., Hwang D.M., Dempsey A.A., Liew C.-C.
    Biochem. Biophys. Res. Commun. 241:589-594(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Heart.
  2. Iida A., Kondo K., Kitamoto T., Kitamura Y., Mishima C., Osawa K., Nakamura Y.
    Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Thymus.
  3. "ADBCGF02_ADB Homo sapiens cDNA clone ADBCGF02 5',mRNA sequence."
    Peng Y., Song H., Huang Q., Huang C., Gu Y., Yang Y., Gao G., Xiao H., Xu X., Li N., Qian B., Liu F., Qu J., Gao X., Cheng Z., Xu Z., Zeng L., Xu S.
    , Gu W., Tu Y., Jia J., Fu G., Ren S., Zhong M., Lu G., Hu R., Chen J., Chen Z., Han Z.
    Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Adrenal gland.
  4. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Umbilical cord blood.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Kidney.
  8. "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification."
    Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F., Ghosh S.S., Capaldi R.A.
    J. Biol. Chem. 278:13619-13622(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "The oxidized subunit B8 from human complex I adopts a thioredoxin fold."
    Brockmann C., Diehl A., Rehbein K., Strauss H., Schmieder P., Korn B., Kuhne R., Oschkinat H.
    Structure 12:1645-1654(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR, DISULFIDE BOND.
  12. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-50.

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: October 29, 2014
This is version 137 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

External Data

Dasty 3