O43920 (NDUS5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 5

Alternative name(s):
Complex I-15 kDa
Short name=CI-15 kDa
NADH-ubiquinone oxidoreductase 15 kDa subunit

Gene names

Name:

NDUFS5

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	106 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	Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.
Subcellular location	Mitochondrion. Mitochondrion inner membrane; Peripheral membrane protein Probable. Mitochondrion intermembrane space Potential.
Domain	Contains two C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds. Ref.6
Sequence similarities	Belongs to the complex I NDUFS5 subunit family.

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	mitochondrial electron transport, NADH to ubiquinone Non-traceable author statement Ref.2. Source: UniProtKB mitochondrial respiratory chain complex I assembly Inferred from mutant phenotype. Source: UniProtKB transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrial intermembrane space Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrial respiratory chain complex I Inferred from direct assay Ref.4. Source: UniProtKB
Molecular function	NADH dehydrogenase (ubiquinone) activity Non-traceable author statement Ref.2. 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 By similarity
	Chain	2 – 106	105	NADH dehydrogenase [ubiquinone] iron-sulfur protein 5		PRO_0000118786
Regions
	Motif	33 – 43	11	C-X9-C motif 1
	Motif	56 – 66	11	C-X9-C motif 2
Amino acid modifications
	Disulfide bond	33 ↔ 66		Potential
	Disulfide bond	43 ↔ 56		Potential
Natural variations
	Natural variant	96	1	P → S Detected in a patient with mitochondrial complex I deficiency; uncertain pathological significance. Ref.7		VAR_064569

Sequences

	Sequence		Length	Mass (Da)
	O43920 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 3D55402837DD99EE	FASTA	106	12,518
	10 20 30 40 50 60 MPFLDIQKRF GLNIDRWLTI QSGEQPYKMA GRCHAFEKEW IECAHGIGYT RAEKECKIEY 70 80 90 100 DDFVECLLRQ KTMRRAGTIR KQRDKLIKEG KYTPPPHHIG KGEPRP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning." Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H., He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H., Wang Y.-X., Chen S.-J., Chen Z. Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed: 9653160] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Umbilical cord blood.
[2]	"The human NADH:ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients." Loeffen J., Smeets R., Smeitink J., Triepels R., Sengers R., Trijbels F., van den Heuvel L. J. Inherit. Metab. Dis. 22:19-28(1999) [PubMed: 10070614] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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]. 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: DOMAIN, MOTIF.
[7]	"High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency." Calvo S.E., Tucker E.J., Compton A.G., Kirby D.M., Crawford G., Burtt N.P., Rivas M., Guiducci C., Bruno D.L., Goldberger O.A., Redman M.C., Wiltshire E., Wilson C.J., Altshuler D., Gabriel S.B., Daly M.J., Thorburn D.R., Mootha V.K. Nat. Genet. 42:851-858(2010) [PubMed: 20818383] [Abstract] Cited for: VARIANT SER-96.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF047434 mRNA. Translation: AAC39878.1. AF020352 mRNA. Translation: AAB87866.1. BC001884 mRNA. Translation: AAH01884.1.
IPI	IPI00220063.
RefSeq	NP_001171908.1. NM_001184979.1. NP_004543.1. NM_004552.2.
UniGene	Hs.632385.
3D structure databases
ProteinModelPortal	O43920.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43920. 2 interactions.
STRING	O43920.
Proteomic databases
PeptideAtlas	O43920.
PRIDE	O43920.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372967; ENSP00000362058; ENSG00000168653. ENST00000372969; ENSP00000362060; ENSG00000168653.
GeneID	4725.
KEGG	hsa:4725.
UCSC	uc001ccx.1. human.
Organism-specific databases
CTD	4725.
GeneCards	GC01P039491.
H-InvDB	HIX0199797.
HGNC	HGNC:7712. NDUFS5.
MIM	603847. gene.
neXtProt	NX_O43920.
PharmGKB	PA31522.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG20580.
HOGENOM	HBG716328.
HOVERGEN	HBG001646.
InParanoid	O43920.
OMA	PFFDVQK.
OrthoDB	EOG4BCDPF.
PhylomeDB	O43920.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	O43920.
Bgee	O43920.
CleanEx	HS_NDUFS5.
Genevestigator	O43920.
GermOnline	ENSG00000168653. Homo sapiens.
Family and domain databases
InterPro	IPR019342. NADH_UbQ_OxRdtase_FeS-su5. [Graphical view]
KO	K03938.
Pfam	PF10200. Ndufs5. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00157. NADH.
NextBio	18222.
SOURCE	Search...

Entry information

Entry name

NDUS5_HUMAN

Accession

Primary (citable) accession number: O43920

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 96 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.