O43678 (NDUA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

NDUFA2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	99 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.
Subcellular location	Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
PTM	Acetylation Disulfide bond
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	mitochondrial electron transport, NADH to ubiquinone Non-traceable author statement. Source: UniProtKB transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrial respiratory chain complex I Inferred from direct assay Ref.6. Source: UniProtKB
Molecular function	NADH dehydrogenase (ubiquinone) activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed

Chain

2 – 99

98

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2

PRO_0000118789

Amino acid modifications

Modified residue

2

1

N-acetylalanine Ref.7

Modified residue

64

1

N6-acetyllysine By similarity

Disulfide bond

24 ↔ 58

Redox-active Ref.9

Natural variations

Natural variant

50

1

D → N in a breast cancer sample; somatic mutation. Ref.10

VAR_036174

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

99

Helix Strand Turn

Details...

Beta strand

15 – 21

7

Beta strand

24 – 26

3

Helix

30 – 38

9

Helix

40 – 46

7

Beta strand

52 – 55

4

Beta strand

59 – 61

3

Beta strand

63 – 70

8

Beta strand

73 – 77

5

Helix

83 – 96

14

Sequences

	Sequence		Length	Mass (Da)
	O43678 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: EF026F193CAF1DF7	FASTA	99	10,922
	10 20 30 40 50 60 MAAAAASRGV GAKLGLREIR IHLCQRSPGS QGVRDFIEKR YVELKKANPD LPILIRECSD 70 80 90 VQPKLWARYA FGQETNVPLN NFSADQVTRA LENVLSGKA

References

	« Hide 'large scale' referencesShow '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: 9425316] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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]	"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: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Umbilical cord blood.
[4]	"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].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.
[6]	"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: 12611891] [Abstract] Cited for: MASS SPECTROMETRY, IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX.
[7]	"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: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[8]	"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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"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: 15341729] [Abstract] Cited for: STRUCTURE BY NMR, DISULFIDE BOND.
[10]	"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. , 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: 16959974] [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.
CR457016 mRNA. Translation: CAG33297.1.
BC003674 mRNA. Translation: AAH03674.1.

IPI

IPI00219381.

PIR

JC5824.

RefSeq

NP_002479.1. NM_002488.4.

UniGene

Hs.534333.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1S3A	NMR	-	A	1-99	[»]

ProteinModelPortal

O43678.

SMR

O43678. Positions 15-99.

ModBase

Search...

Protein-protein interaction databases

IntAct

O43678. 31 interactions.

STRING

O43678.

PTM databases

PhosphoSite

O43678.

Proteomic databases

PeptideAtlas

O43678.

PRIDE

O43678.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000252102; ENSP00000252102; ENSG00000131495.

GeneID

4695.

KEGG

hsa:4695.

UCSC

uc003lgp.1. human.

Organism-specific databases

CTD

4695.

GeneCards

GC05M140005.

H-InvDB

HIX0005236.

HGNC

HGNC:7685. NDUFA2.

HPA

HPA035933.

MIM

602137. gene.

neXtProt

NX_O43678.

Orphanet

2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG20794.

GeneTree

ENSGT00390000006178.

HOGENOM

HBG464594.

HOVERGEN

HBG082012.

InParanoid

O43678.

OMA

LRLHLCQ.

OrthoDB

EOG4GXFPB.

PhylomeDB

O43678.

Enzyme and pathway databases

Reactome

REACT_111217. Metabolism.

Gene expression databases

ArrayExpress

O43678.

Bgee

O43678.

CleanEx

HS_NDUFA2.

Genevestigator

O43678.

GermOnline

ENSG00000131495. Homo sapiens.

Family and domain databases

InterPro

IPR016464. NADH_Ub_cplx-1_asu_su-2.
IPR007741. Ribosome/NADH_DH.
IPR012336. Thioredoxin-like_fold.
[Graphical view]

KO

K03946.

PANTHER

PTHR12878. PTHR12878. 1 hit.

Pfam

PF05047. L51_S25_CI-B8. 1 hit.
[Graphical view]

PIRSF

PIRSF005822. NDUA2. 1 hit.

SMART

SM00916. L51_S25_CI-B8. 1 hit.
[Graphical view]

SUPFAM

SSF52833. Thiordxn-like_fd. 1 hit.

ProtoNet

Search...

Other

DrugBank

DB00157. NADH.

NextBio

18106.

SOURCE

Search...

Entry information

Entry name

NDUA2_HUMAN

Accession

Primary (citable) accession number: O43678
Secondary accession number(s): Q6IAY8

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 109 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.