NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial precursor

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O75251 (NDUS7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 121. History...

Clusters with 100%, 90%, 50% identity |

Documents (5) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents Customize order

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)

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. Ref.6 Defects in NDUFS7 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 disorders, 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. 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.1. 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 direct assay Ref.4. Source: UniProtKB
Molecular function	4 iron, 4 sulfur cluster binding Inferred from electronic annotation. Source: UniProtKB-KW NADH dehydrogenase (ubiquinone) activity Non-traceable author statement. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from physical interaction. Source: UniProtKB 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

Mitochondrion By similarity

Chain

39 – 213

175

NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial

PRO_0000020027

Sites

Metal binding

Iron-sulfur (4Fe-4S) Potential

Metal binding

Iron-sulfur (4Fe-4S) Potential

Metal binding

153

Iron-sulfur (4Fe-4S) Potential

Metal binding

183

Iron-sulfur (4Fe-4S) Potential

Natural variations

Natural variant

P → L. Ref.3
Corresponds to variant rs1142530 [ dbSNP | Ensembl ].

VAR_014482

Natural variant

122

V → M in MT-C1D. Ref.6 Ref.7

VAR_008848

Sequences

Sequence

Length

Mass (Da)

Tools

O75251 [UniParc].

Last modified March 21, 2006. Version 3.
Checksum: B3547EA24643C1B0
Show »

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

« Hide

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. 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]	"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]	"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.
[7]	"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 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.
SMR	O75251. Positions 59-207.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75251. 3 interactions.
STRING	O75251.
PTM databases
PhosphoSite	O75251.
Proteomic databases
PRIDE	O75251.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000233627; ENSP00000233627; ENSG00000115286.
GeneID	374291.
KEGG	hsa:374291.
UCSC	uc002lse.2. human.
Organism-specific databases
CTD	374291.
GeneCards	GC19P001384.
H-InvDB	HIX0020886. HIX0027582. HIX0202750.
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	prNOG21161.
HOVERGEN	HBG001576.
OMA	MKMAERV.
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
InterPro	IPR006137. NADH_UbQ_OxRdtase-like_20kDa. IPR006138. NADH_UQ_OxRdtase_20Kd_su. IPR014406. NiFe-hyd_3_ssu/Q_oxred_NuoB. [Graphical view]
Gene3D	G3DSA:3.40.50.700. G3DSA:3.40.50.700. 1 hit.
KO	K03940.
PANTHER	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
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:	January 25, 2012
This is version 121 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.

Relevant documents

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Sites

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents