Q86Y39 (NDUAB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11

Alternative name(s):
Complex I-B14.7
Short name=CI-B14.7
NADH-ubiquinone oxidoreductase subunit B14.7

Gene names

Name:

NDUFA11

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	141 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 By similarity.
Subunit structure	Complex I is composed of 45 different subunits.
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein; Matrix side By similarity.
Involvement in disease	Defects in NDUFA11 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy and some forms of Parkinson disease.
Sequence similarities	Belongs to the complex I NDUFA11 subunit family.
Sequence caution	The sequence BAC87088.1 differs from that shown. Reason: Erroneous CDS prediction.

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	respiratory electron transport chain Traceable author statement. Source: Reactome transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial respiratory chain complex I Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q86Y39-1)

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: Q86Y39-2)

The sequence of this isoform differs from the canonical sequence as follows:
     105-141: THNYGIGAAA...GWEVFAKPKV → KTGSHCVVQA...LNALGSNPRT

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.4
	Chain	2 – 141	140	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11		PRO_0000118841
Regions
	Transmembrane	21 – 43	23	Helical; Potential
	Transmembrane	58 – 80	23	Helical; Potential
Natural variations
	Alternative sequence	105 – 141	37	THNYG…AKPKV → KTGSHCVVQAGLKLLASSSP HTSASQSAGIIGMSHCVQRF WVPSSSACLEVLSGEGTDVH ACSSTRGACNSSGSRPLPEL GARASGSLRKGGHTHPAPRG AGALTPVQALIESLLNALGS NPRT in isoform 2.		VSP_033813

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 379D58482D7E8BDB	FASTA	141	14,852
	10 20 30 40 50 60 MAPKVFRQYW DIPDGTDCHR KAYSTTSIAS VAGLTAAAYR VTLNPPGTFL EGVAKVGQYT 70 80 90 100 110 120 FTAAAVGAVF GLTTCISAHV REKPDDPLNY FLGGCAGGLT LGARTHNYGI GAAACVYFGI 130 140 AASLVKMGRL EGWEVFAKPK V
	Isoform 2 [UniParc]. Checksum: 539FF57595A614D8	FASTA	228	23,350
	10 20 30 40 50 60 MAPKVFRQYW DIPDGTDCHR KAYSTTSIAS VAGLTAAAYR VTLNPPGTFL EGVAKVGQYT 70 80 90 100 110 120 FTAAAVGAVF GLTTCISAHV REKPDDPLNY FLGGCAGGLT LGARKTGSHC VVQAGLKLLA 130 140 150 160 170 180 SSSPHTSASQ SAGIIGMSHC VQRFWVPSSS ACLEVLSGEG TDVHACSSTR GACNSSGSRP 190 200 210 220 LPELGARASG SLRKGGHTHP APRGAGALTP VQALIESLLN ALGSNPRT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), MASS SPECTROMETRY, IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX. Tissue: Heart.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]	"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] (ISOFORM 1). Tissue: Uterus.
[4]	"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides." Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J. Nat. Biotechnol. 21:566-569(2003) [PubMed: 12665801] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-7. Tissue: Platelet.
[5]	"Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation." Berger I., Hershkovitz E., Shaag A., Edvardson S., Saada A., Elpeleg O. Ann. Neurol. 63:405-408(2008) [PubMed: 18306244] [Abstract] Cited for: INVOLVEMENT IN MITOCHONDRIAL COMPLEX I DEFICIENCY.
[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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ539081 mRNA. Translation: CAD62165.1. AK127692 mRNA. Translation: BAC87088.1. Sequence problems. BC069045 mRNA. Translation: AAH69045.1.
IPI	IPI00329301. IPI00893857.
RefSeq	NP_783313.1. NM_175614.4.
UniGene	Hs.406062.
3D structure databases
ProteinModelPortal	Q86Y39.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86Y39. 1 interaction.
STRING	Q86Y39.
Polymorphism databases
DMDM	52000823.
Proteomic databases
PeptideAtlas	Q86Y39.
PRIDE	Q86Y39.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308961; ENSP00000311740; ENSG00000174886.
GeneID	126328.
KEGG	hsa:126328.
UCSC	uc002mdp.1. human. uc002mdq.1. human.
Organism-specific databases
CTD	126328.
GeneCards	GC19M005891.
HGNC	HGNC:20371. NDUFA11.
MIM	252010. phenotype. 612638. gene.
neXtProt	NX_Q86Y39.
Orphanet	2609. Isolated NADH-CoQ reductase deficiency.
PharmGKB	PA134914606.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG21828.
GeneTree	ENSGT00410000028587.
HOVERGEN	HBG052568.
InParanoid	Q86Y39.
OMA	RYTFTAA.
PhylomeDB	Q86Y39.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q86Y39.
Bgee	Q86Y39.
CleanEx	HS_NDUFA11.
Genevestigator	Q86Y39.
GermOnline	ENSG00000174886. Homo sapiens.
Family and domain databases
InterPro	IPR003397. Tim17/Tim22/Tim23/PMP24. [Graphical view]
KO	K03956.
Pfam	PF02466. Tim17. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00157. NADH.
NextBio	81785.
SOURCE	Search...

Entry information

Entry name

NDUAB_HUMAN

Accession

Primary (citable) accession number: Q86Y39
Secondary accession number(s): Q6ZS66

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 13, 2004
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 74 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.