P51970 (NDUA8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8

Alternative name(s):
Complex I-19kD
Short name=CI-19kD
Complex I-PGIV
Short name=CI-PGIV
NADH-ubiquinone oxidoreductase 19 kDa subunit

Gene names

Name:

NDUFA8

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	172 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. Ref.6
Subcellular location	Mitochondrion. Mitochondrion intermembrane space Ref.6.
Domain	Contains four C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
Post-translational modification	May contain intrachain disulfide bonds, as evidenced by its electrophoretic mobility under reducing vs non-reducing conditions.
Sequence similarities	Belongs to the complex I NDUFA8 subunit family. Contains 2 CHCH domains.

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Repeat
PTM	Disulfide bond
Technical term	Complete proteome Direct protein sequencing 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 intermembrane space Inferred from direct assay Ref.6. Source: UniProtKB mitochondrial respiratory chain complex I Inferred from direct assay Ref.4. 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 Ref.3
	Chain	2 – 172	171	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8		PRO_0000118734
Regions
	Domain	29 – 69	41	CHCH 1
	Domain	71 – 113	43	CHCH 2
	Motif	36 – 46	11	C-X9-C motif 1
	Motif	56 – 66	11	C-X9-C motif 2
	Motif	78 – 88	11	C-X9-C motif 3
	Motif	100 – 110	11	C-X9-C motif 4
Amino acid modifications
	Disulfide bond	36 ↔ 66		Potential
	Disulfide bond	46 ↔ 56		Potential
	Disulfide bond	78 ↔ 110		Potential
	Disulfide bond	88 ↔ 100		Potential
Natural variations
	Natural variant	140	1	N → H in a breast cancer sample; somatic mutation. Ref.7		VAR_036176

Sequences

	Sequence		Length	Mass (Da)
	P51970 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: E1647472B69E1149	FASTA	172	20,105
	10 20 30 40 50 60 MPGIVELPTL EELKVDEVKI SSAVLKAAAH HYGAQCDKPN KEFMLCRWEE KDPRRCLEEG 70 80 90 100 110 120 KLVNKCALDF FRQIKRHCAE PFTEYWTCID YTGQQLFRHC RKQQAKFDEC VLDKLGWVRP 130 140 150 160 170 DLGELSKVTK VKTDRPLPEN PYHSRPRPDP SPEIEGDLQP ATHGSRFYFW TK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients." Triepels R., van den Heuvel L., Loeffen J., Smeets R., Trijbels F., Smeitink J. Hum. Genet. 103:557-563(1998) [PubMed: 9860297] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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: Lymph.
[3]	"Renal cell carcinoma and normal kidney protein expression." Sarto C., Marocchi A., Sanchez J.-C., Giannone B., Frutiger S., Golaz O., Wilkins M.R., Doro G., Cappellano F., Hughes G.J., Hochstrasser D.F., Mocarelli P. Electrophoresis 18:599-604(1997) [PubMed: 9150947] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-14. Tissue: Kidney.
[4]	"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.
[5]	"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].
[6]	"NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I." Szklarczyk R., Wanschers B.F., Nabuurs S.B., Nouws J., Nijtmans L.G., Huynen M.A. FEBS Lett. 585:737-743(2011) [PubMed: 21310150] [Abstract] Cited for: SUBCELLULAR LOCATION, SUBUNIT, PROBABLE DISULFIDE BOND.
[7]	"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] HIS-140.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF044953 mRNA. Translation: AAD42056.1. BC001016 mRNA. Translation: AAH01016.1.
IPI	IPI00219034.
RefSeq	NP_055037.1. NM_014222.2.
UniGene	Hs.495039.
3D structure databases
ProteinModelPortal	P51970.
ModBase	Search...
Protein-protein interaction databases
IntAct	P51970. 2 interactions.
STRING	P51970.
PTM databases
PhosphoSite	P51970.
Polymorphism databases
DMDM	8039804.
2D gel databases
SWISS-2DPAGE	P51970.
UCD-2DPAGE	P51970.
Proteomic databases
PeptideAtlas	P51970.
PRIDE	P51970.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373768; ENSP00000362873; ENSG00000119421.
GeneID	4702.
KEGG	hsa:4702.
UCSC	uc004blv.1. human.
Organism-specific databases
CTD	4702.
GeneCards	GC09M124906.
H-InvDB	HIX0201384.
HGNC	HGNC:7692. NDUFA8.
HPA	HPA041510. HPA041600.
MIM	603359. gene.
neXtProt	NX_P51970.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06845.
GeneTree	ENSGT00390000008938.
HOGENOM	HBG715496.
HOVERGEN	HBG001244.
InParanoid	P51970.
OMA	YWTCLDY.
OrthoDB	EOG4P5KB7.
PhylomeDB	P51970.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	P51970.
Bgee	P51970.
CleanEx	HS_NDUFA8.
Genevestigator	P51970.
GermOnline	ENSG00000119421. Homo sapiens.
Family and domain databases
InterPro	IPR010625. CHCH. IPR016680. NADH_Ub_cplx-1_asu_su-8. [Graphical view]
KO	K03952.
Pfam	PF06747. CHCH. 1 hit. [Graphical view]
PIRSF	PIRSF017016. NDUA8. 1 hit.
ProtoNet	Search...
Other
DrugBank	DB00157. NADH.
NextBio	18132.
SOURCE	Search...

Entry information

Entry name

NDUA8_HUMAN

Accession

Primary (citable) accession number: P51970
Secondary accession number(s): Q9Y6N0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 107 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.