Reviewed, UniProtKB/Swiss-Prot O75251 (NDUS7_HUMAN)

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

Gene names

Name:

NDUFS7

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	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.
Subcellular location	Mitochondrion.
Involvement in disease	Defects in NDUFS7 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Defects in NDUFS7 are a cause of complex I mitochondrial respiratory chain deficiency [MIM:252010]. Complex I (NADH-ubiquinone oxidoreductase), the largest complex of the mitochondrial respiratory chain, contains more than 40 subunits. It is embedded in the inner mitochondrial membrane and is partly protruding in the matrix. Complex I deficiency is the most common cause of mitochondrial disorders. It represents largely one-third of all cases of respiratory chain deficiency and is responsible for a variety of clinical symptoms, ranging from neurological disorders to cardiomyopathy, liver failure, and myopathy.
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
Gene Ontology (GO)
Biological process	mitochondrial electron transport, NADH to ubiquinone Ref.1 Non-traceable author statement. 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 respiratory chain complex I Inferred from mutant phenotype. Source: UniProtKB
Molecular function	4 iron, 4 sulfur cluster binding Inferred from electronic annotation. Source: InterPro NADH dehydrogenase (ubiquinone) activity Non-traceable author statement. Source: UniProtKB iron ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from physical interaction. Source: UniProtKB
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: dbSNP rs1142530.		VAR_014482
	Natural variant	122	1	V → M in complex I deficiency and LS.		VAR_008848

Sequences

	Sequence		Length	Mass (Da)
	O75251-1 [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: 8938450] [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: 15057824] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-23. Tissue: Brain.
[4]	"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: 10360771] [Abstract] Cited for: VARIANT LS MET-122.
[5]	"Human mitochondrial complex I in health and disease." Smeitink J., van den Heuvel L. Am. J. Hum. Genet. 64:1505-1510(1999) [PubMed: 10330338] [Abstract] Cited for: VARIANT COMPLEX I DEFICIENCY MET-122.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AC005329 Genomic DNA. Translation: AAC27669.1. Sequence problems. BC001715 mRNA. Translation: AAH01715.2. BC005954 mRNA. Translation: AAH05954.1. BC111517 mRNA. Translation: AAI11518.1.
RefSeq	NP_077718.3.
UniGene	Hs.211914
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O75251.
Genome annotation databases
Ensembl	ENSG00000115286. Homo sapiens. [Contig view]
GeneID	374291.
KEGG	hsa:374291.
Organism-specific databases
H-InvDB	HIX0014582. HIX0092829.
HGNC	HGNC:7714. NDUFS7.
MIM	252010. phenotype. 256000. phenotype. 601825. gene.
Orphanet	506. Leigh syndrome. 2609. NADH-CoQ reductase deficiency.
PharmGKB	PA31524.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	O75251.
Enzyme and pathway databases
Reactome	REACT_6305. Electron Transport Chain.
Gene expression databases
ArrayExpress	O75251.
CleanEx	HS_NDUFS7.
GermOnline	ENSG00000115286. Homo sapiens.
Family and domain databases
InterPro	IPR006138. NADH_DHase_20kDa_su. IPR014406. NiFe_hyd_3_ssu/Q_oxred_NuoB. IPR006137. OxRdtase_q6. [Graphical view]
PANTHER	PTHR11995:SF2. NADH_DH_20kDa. 1 hit. PTHR11995. NiFe_hyd_3_ssu/Q_oxred_NuoB. 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 Resources
DrugBank	DB00157. NADH.
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:	November 25, 2008
This is version 86 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)