Q9UI09 (NDUAC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

Alternative name(s):
13 kDa differentiation-associated protein
Complex I-B17.2
Short name=CI-B17.2
Short name=CIB17.2
NADH-ubiquinone oxidoreductase subunit B17.2

Gene names

Name:	NDUFA12
Synonyms:	DAP13

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	145 AA.
Sequence status	Complete.
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.5
Subcellular location	Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
Involvement in disease	Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Belongs to the complex I NDUFA12 subunit family.

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
Disease	Leigh syndrome
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	respiratory electron transport chain Traceable author statement. Source: Reactome respiratory gaseous exchange Non-traceable author statement Ref.1. Source: UniProtKB response to oxidative stress Inferred from direct assay PubMed 12857734. Source: UniProtKB small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	mitochondrial respiratory chain complex I Inferred from direct assay Ref.5. Source: UniProtKB
Molecular_function	NADH dehydrogenase (ubiquinone) activity Non-traceable author statement Ref.1. Source: UniProtKB electron carrier activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 145	145	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12		PRO_0000118845
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine By similarity
	Modified residue	43	1	N6-acetyllysine By similarity
	Modified residue	47	1	N6-acetyllysine By similarity
Natural variations
	Natural variant	104	1	T → A. Ref.3 Ref.4 Corresponds to variant rs17850017 [ dbSNP | Ensembl ].		VAR_060682

Sequences

	Sequence		Length	Mass (Da)
	Q9UI09 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: C76C7F2F5974AFF9	FASTA	145	17,114
	10 20 30 40 50 60 MELVQVLKRG LQQITGHGGL RGYLRVFFRT NDAKVGTLVG EDKYGNKYYE DNKQFFGRHR 70 80 90 100 110 120 WVVYTTEMNG KNTFWDVDGS MVPPEWHRWL HSMTDDPPTT KPLTARKFIW TNHKFNVTGT 130 140 PEQYVPYSTT RKKIQEWIPP STPYK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients." Triepels R., Smeitink J., Loeffen J., Smeets R., Trijbels F., van den Heuvel L. Hum. Genet. 106:385-391(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L. Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Adrenal gland.
[3]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-104.
[4]	"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], VARIANT ALA-104. Tissue: Kidney.
[5]	"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: MASS SPECTROMETRY, IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX.
[6]	"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].
[7]	"Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome." Ostergaard E., Rodenburg R.J., van den Brand M., Thomsen L.L., Duno M., Batbayli M., Wibrand F., Nijtmans L. J. Med. Genet. 48:737-740(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN LS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF217092 mRNA. Translation: AAF91224.1. AF112208 mRNA. Translation: AAF17196.1. BT007220 mRNA. Translation: AAP35884.1. BC005936 mRNA. Translation: AAH05936.1.
IPI	IPI00005966.
RefSeq	NP_061326.1. NM_018838.4.
UniGene	Hs.506374.
3D structure databases
ProteinModelPortal	Q9UI09.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UI09. 2 interactions.
STRING	9606.ENSP00000330737.
PTM databases
PhosphoSite	Q9UI09.
Polymorphism databases
DMDM	12229870.
Proteomic databases
PaxDb	Q9UI09.
PRIDE	Q9UI09.
Protocols and materials databases
DNASU	55967.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000327772; ENSP00000330737; ENSG00000184752.
GeneID	55967.
KEGG	hsa:55967.
UCSC	uc001tdl.3. human.
Organism-specific databases
CTD	55967.
GeneCards	GC12M095291.
HGNC	HGNC:23987. NDUFA12.
HPA	HPA039903.
MIM	256000. phenotype. 614530. gene.
neXtProt	NX_Q9UI09.
PharmGKB	PA142671269.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG146832.
HOVERGEN	HBG024390.
InParanoid	Q9UI09.
KO	K11352.
OMA	TPQQYVP.
OrthoDB	EOG415GFS.
PhylomeDB	Q9UI09.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q9UI09.
Bgee	Q9UI09.
CleanEx	HS_NDUFA12.
Genevestigator	Q9UI09.
GermOnline	ENSG00000184752. Homo sapiens.
Family and domain databases
InterPro	IPR007763. NADH_UbQ_OxRdtase_17.2kDa_su. [Graphical view]
PANTHER	PTHR12910. PTHR12910. 1 hit.
Pfam	PF05071. NDUFA12. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	NDUFA12. human.
DrugBank	DB00157. NADH.
GenomeRNAi	55967.
NextBio	61385.
SOURCE	Search...

Entry information

Entry name

NDUAC_HUMAN

Accession

Primary (citable) accession number: Q9UI09
Secondary accession number(s): Q53XX0, Q9BRV6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 106 of the entry and version 1 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.