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O43678 (NDUA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NDUFA2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length99 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Complex I is composed of 45 different subunits. Ref.8

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43678-1)

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.
Isoform 2 (identifier: O43678-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.9
Chain2 – 9998NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
PRO_0000118789

Amino acid modifications

Modified residue21N-acetylalanine Ref.9
Modified residue641N6-acetyllysine; alternate By similarity
Modified residue641N6-succinyllysine; alternate By similarity
Disulfide bond24 ↔ 58Redox-active Ref.11

Natural variations

Alternative sequence71 – 9929FGQET…LSGKA → SRVQNS in isoform 2.
VSP_045479
Natural variant501D → N in a breast cancer sample; somatic mutation. Ref.12
VAR_036174

Secondary structure

................... 99
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: EF026F193CAF1DF7

FASTA9910,922
        10         20         30         40         50         60 
MAAAAASRGV GAKLGLREIR IHLCQRSPGS QGVRDFIEKR YVELKKANPD LPILIRECSD 

        70         80         90 
VQPKLWARYA FGQETNVPLN NFSADQVTRA LENVLSGKA 

« Hide

Isoform 2 [UniParc].

Checksum: E533D33E797CE167
Show »

FASTA768,491

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-50.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS4234.1. [O43678-1]
CCDS54911.1. [O43678-2]
PIRJC5824.
RefSeqNP_001171941.1. NM_001185012.1. [O43678-2]
NP_002479.1. NM_002488.4. [O43678-1]
UniGeneHs.75914.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1S3ANMR-A1-99[»]
ProteinModelPortalO43678.
SMRO43678. Positions 15-99.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110775. 44 interactions.
IntActO43678. 34 interactions.
STRING9606.ENSP00000252102.

Chemistry

ChEMBLCHEMBL2363065.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteO43678.

Proteomic databases

MaxQBO43678.
PaxDbO43678.
PeptideAtlasO43678.
PRIDEO43678.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252102; ENSP00000252102; ENSG00000131495. [O43678-1]
ENST00000512088; ENSP00000427220; ENSG00000131495. [O43678-2]
GeneID4695.
KEGGhsa:4695.
UCSCuc003lgp.3. human. [O43678-1]

Organism-specific databases

CTD4695.
GeneCardsGC05M140005.
HGNCHGNC:7685. NDUFA2.
HPAHPA035933.
MIM602137. gene.
neXtProtNX_O43678.
Orphanet2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBPA31491.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG252949.
HOGENOMHOG000201916.
HOVERGENHBG082012.
InParanoidO43678.
KOK03946.
OMASAGTRQF.
OrthoDBEOG779P1D.
PhylomeDBO43678.
TreeFamTF300229.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeO43678.
CleanExHS_NDUFA2.
GenevestigatorO43678.

Family and domain databases

Gene3D3.40.30.10. 1 hit.
InterProIPR016464. NADH_Ub_cplx-1_asu_su-2.
IPR007741. Ribosome/NADH_DH.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERPTHR12878. PTHR12878. 1 hit.
PfamPF05047. L51_S25_CI-B8. 1 hit.
[Graphical view]
PIRSFPIRSF005822. NDUA2. 1 hit.
SMARTSM00916. L51_S25_CI-B8. 1 hit.
[Graphical view]
SUPFAMSSF52833. SSF52833. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceO43678.
GeneWikiNDUFA2.
GenomeRNAi4695.
NextBio18106.
PROO43678.
SOURCESearch...

Entry information

Entry nameNDUA2_HUMAN
AccessionPrimary (citable) accession number: O43678
Secondary accession number(s): D6RJD6, Q6IAY8
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 134 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM