O75251 (NDUS7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
EC=1.6.5.3
EC=1.6.99.3

Alternative name(s):
Complex I-20kD
Short name=CI-20kD
NADH-ubiquinone oxidoreductase 20 kDa subunit
PSST subunit

Gene names

Name:

NDUFS7

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	213 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	Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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.
Catalytic activity	NADH + ubiquinone = NAD+ + ubiquinol. NADH + acceptor = NAD+ + reduced acceptor.
Cofactor	Binds 1 4Fe-4S cluster Potential.
Subunit structure	Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme. Ref.4
Subcellular location	Mitochondrion.
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.6 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Belongs to the complex I 20 kDa subunit family.
Sequence caution	The sequence AAC27669.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Disease	Disease mutation Leigh syndrome
Domain	Transit peptide
Ligand	4Fe-4S Iron Iron-sulfur Metal-binding NAD Ubiquinone
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mitochondrial electron transport, NADH to ubiquinone Non-traceable author statement Ref.1PubMed 9878551. Source: UniProtKB mitochondrial respiratory chain complex I assembly Inferred from mutant phenotype PubMed 11112787. Source: UniProtKB small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	mitochondrial respiratory chain complex I Inferred from direct assay Ref.4. Source: UniProtKB neuron projection Inferred from electronic annotation. Source: Compara neuronal cell body Inferred from electronic annotation. Source: Compara synaptic membrane Inferred from electronic annotation. Source: Compara
Molecular_function	4 iron, 4 sulfur cluster binding Inferred from electronic annotation. Source: UniProtKB-KW NADH dehydrogenase (ubiquinone) activity Non-traceable author statement PubMed 9878551. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW quinone binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 38	38	Mitochondrion By similarity
	Chain	39 – 213	175	NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial		PRO_0000020027
Sites
	Metal binding	88	1	Iron-sulfur (4Fe-4S) Potential
	Metal binding	89	1	Iron-sulfur (4Fe-4S) Potential
	Metal binding	153	1	Iron-sulfur (4Fe-4S) Potential
	Metal binding	183	1	Iron-sulfur (4Fe-4S) Potential
Natural variations
	Natural variant	23	1	P → L. Ref.3 Corresponds to variant rs1142530 [ dbSNP | Ensembl ].		VAR_014482
	Natural variant	122	1	V → M in MT-C1D. Ref.6 Ref.7		VAR_008848

Sequences

	Sequence		Length	Mass (Da)
	O75251 [UniParc]. Last modified March 21, 2006. Version 3. Checksum: B3547EA24643C1B0	FASTA	213	23,564
	10 20 30 40 50 60 MAVLSAPGLR GFRILGLRSS VGPAVQARGV HQSVATDGPS STQPALPKAR AVAPKPSSRG 70 80 90 100 110 120 EYVVAKLDDL VNWARRSSLW PMTFGLACCA VEMMHMAAPR YDMDRFGVVF RASPRQSDVM 130 140 150 160 170 180 IVAGTLTNKM APALRKVYDQ MPEPRYVVSM GSCANGGGYY HYSYSVVRGC DRIVPVDIYI 190 200 210 PGCPPTAEAL LYGILQLQRK IKRERRLQIW YRR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13." Hyslop S.J., Duncan A.M.V., Pitkanen S., Robinson B.H. Genomics 37:375-380(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-23. Tissue: Brain.
[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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]	"Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I." Triepels R.H., van den Heuvel L., Loeffen J.L.C.M., Buskens C.A.F., Smeets R.J.P., Rubio Gozalbo M.E., Budde S.M., Mariman E.C.M., Wijburg F.A., Barth P.G., Trijbels J.M.F., Smeitink J.A.M. Ann. Neurol. 45:787-790(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LS MET-122.
[7]	"Human mitochondrial complex I in health and disease." Smeitink J., van den Heuvel L. Am. J. Hum. Genet. 64:1505-1510(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MT-C1D MET-122.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC005329 Genomic DNA. Translation: AAC27669.1. Sequence problems. BC001715 mRNA. Translation: AAH01715.2. BC005954 mRNA. Translation: AAH05954.1. BC111517 mRNA. Translation: AAI11518.1.
IPI	IPI01009519.
RefSeq	NP_077718.3. NM_024407.4.
UniGene	Hs.211914.
3D structure databases
ProteinModelPortal	O75251.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75251. 4 interactions.
STRING	9606.ENSP00000233627.
PTM databases
PhosphoSite	O75251.
Proteomic databases
PaxDb	O75251.
PRIDE	O75251.
Protocols and materials databases
DNASU	374291.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000233627; ENSP00000233627; ENSG00000115286.
GeneID	374291.
KEGG	hsa:374291.
UCSC	uc002lse.4. human.
Organism-specific databases
CTD	374291.
GeneCards	GC19P001384.
H-InvDB	HIX0027582.
HGNC	HGNC:7714. NDUFS7.
MIM	252010. phenotype. 256000. phenotype. 601825. gene.
neXtProt	NX_O75251.
Orphanet	2609. Isolated NADH-CoQ reductase deficiency. 255241. Leigh syndrome with leukodystrophy.
PharmGKB	PA31524.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0377.
HOGENOM	HOG000228249.
HOVERGEN	HBG001576.
KO	K03940.
OrthoDB	EOG4SXNDH.
PhylomeDB	O75251.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	O75251.
Bgee	O75251.
CleanEx	HS_NDUFS7.
Genevestigator	O75251.
GermOnline	ENSG00000115286. Homo sapiens.
Family and domain databases
Gene3D	3.40.50.700. 1 hit.
InterPro	IPR006137. NADH_UbQ_OxRdtase-like_20kDa. IPR006138. NADH_UQ_OxRdtase_20Kd_su. IPR014406. NiFe-hyd_3_ssu/Q_oxred_NuoB. [Graphical view]
PANTHER	PTHR11995. PTHR11995. 1 hit.
Pfam	PF01058. Oxidored_q6. 1 hit. [Graphical view]
TIGRFAMs	TIGR01957. nuoB_fam. 1 hit.
PROSITE	PS01150. COMPLEX1_20K. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00157. NADH.
GenomeRNAi	374291.
NextBio	100146.
SOURCE	Search...

Entry information

Entry name

NDUS7_HUMAN

Accession

Primary (citable) accession number: O75251
Secondary accession number(s): Q2T9H7, Q9BV17

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	March 21, 2006
Last modified:	May 1, 2013
This is version 133 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.