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O75251

- NDUS7_HUMAN

UniProt

O75251 - NDUS7_HUMAN

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Protein

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

Gene

NDUFS7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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).By similarity

Catalytic activityi

NADH + ubiquinone + 5 H+(In) = NAD+ + ubiquinol + 4 H+(Out).
NADH + acceptor = NAD+ + reduced acceptor.

Cofactori

Binds 1 4Fe-4S cluster.Curated

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi88 – 881Iron-sulfur (4Fe-4S)Sequence Analysis
Metal bindingi89 – 891Iron-sulfur (4Fe-4S)Sequence Analysis
Metal bindingi153 – 1531Iron-sulfur (4Fe-4S)Sequence Analysis
Metal bindingi183 – 1831Iron-sulfur (4Fe-4S)Sequence Analysis

GO - Molecular functioni

  1. 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW
  3. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
  4. oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor Source: UniProtKB
  5. quinone binding Source: InterPro

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  3. mitochondrial respiratory chain complex I assembly Source: UniProtKB
  4. respiratory electron transport chain Source: Reactome
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Keywords - Ligandi

4Fe-4S, Iron, Iron-sulfur, Metal-binding, NAD, Ubiquinone

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

Names & Taxonomyi

Protein namesi
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 namesi
Name:NDUFS7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:7714. NDUFS7.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Reactome
  2. mitochondrial respiratory chain complex I Source: UniProtKB
  3. neuronal cell body Source: Ensembl
  4. neuron projection Source: Ensembl
  5. synaptic membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti122 – 1221V → M in MT-C1D. 2 Publications
VAR_008848

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

MIMi252010. phenotype.
256000. phenotype.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31524.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3838MitochondrionBy similarityAdd
BLAST
Chaini39 – 213175NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrialPRO_0000020027Add
BLAST

Proteomic databases

MaxQBiO75251.
PaxDbiO75251.
PRIDEiO75251.

PTM databases

PhosphoSiteiO75251.

Expressioni

Gene expression databases

BgeeiO75251.
CleanExiHS_NDUFS7.
ExpressionAtlasiO75251. baseline and differential.
GenevestigatoriO75251.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme.1 Publication

Protein-protein interaction databases

BioGridi131889. 21 interactions.
IntActiO75251. 5 interactions.
MINTiMINT-3001113.
STRINGi9606.ENSP00000233627.

Structurei

3D structure databases

ProteinModelPortaliO75251.
SMRiO75251. Positions 67-202.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I 20 kDa subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0377.
HOGENOMiHOG000228249.
HOVERGENiHBG001576.
InParanoidiO75251.
KOiK03940.
OMAiQVRGVHS.
OrthoDBiEOG7C8GJ9.
PhylomeDBiO75251.
TreeFamiTF312859.

Family and domain databases

Gene3Di3.40.50.700. 1 hit.
HAMAPiMF_01356. NDH1_NuoB.
InterProiIPR006137. NADH_UbQ_OxRdtase-like_20kDa.
IPR006138. NADH_UQ_OxRdtase_20Kd_su.
[Graphical view]
PfamiPF01058. Oxidored_q6. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01957. nuoB_fam. 1 hit.
PROSITEiPS01150. COMPLEX1_20K. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O75251-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAVLSAPGLR GFRILGLRSS VGPAVQARGV HQSVATDGPS STQPALPKAR
60 70 80 90 100
AVAPKPSSRG EYVVAKLDDL VNWARRSSLW PMTFGLACCA VEMMHMAAPR
110 120 130 140 150
YDMDRFGVVF RASPRQSDVM IVAGTLTNKM APALRKVYDQ MPEPRYVVSM
160 170 180 190 200
GSCANGGGYY HYSYSVVRGC DRIVPVDIYI PGCPPTAEAL LYGILQLQRK
210
IKRERRLQIW YRR
Length:213
Mass (Da):23,564
Last modified:March 21, 2006 - v3
Checksum:iB3547EA24643C1B0
GO
Isoform 2 (identifier: O75251-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-213: CPPTAEALLYGILQLQRKIKRERRLQIWYRR → RAGTAPPTRELETGPAPHGARRPL

Note: No experimental confirmation available.

Show »
Length:206
Mass (Da):22,203
Checksum:i692E9A48461A8CBA
GO

Sequence cautioni

The sequence AAC27669.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231P → L.1 Publication
Corresponds to variant rs1142530 [ dbSNP | Ensembl ].
VAR_014482
Natural varianti122 – 1221V → M in MT-C1D. 2 Publications
VAR_008848

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei183 – 21331CPPTA…IWYRR → RAGTAPPTRELETGPAPHGA RRPL in isoform 2. 1 PublicationVSP_057067Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK091623 mRNA. Translation: BAG52394.1.
AC005329 Genomic DNA. Translation: AAC27669.1. Sequence problems.
BC001715 mRNA. Translation: AAH01715.2.
BC005954 mRNA. Translation: AAH05954.1.
BC111517 mRNA. Translation: AAI11518.1.
CCDSiCCDS12063.1.
RefSeqiNP_077718.3. NM_024407.4.
UniGeneiHs.211914.

Genome annotation databases

EnsembliENST00000233627; ENSP00000233627; ENSG00000115286.
GeneIDi374291.
KEGGihsa:374291.
UCSCiuc002lse.4. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK091623 mRNA. Translation: BAG52394.1 .
AC005329 Genomic DNA. Translation: AAC27669.1 . Sequence problems.
BC001715 mRNA. Translation: AAH01715.2 .
BC005954 mRNA. Translation: AAH05954.1 .
BC111517 mRNA. Translation: AAI11518.1 .
CCDSi CCDS12063.1.
RefSeqi NP_077718.3. NM_024407.4.
UniGenei Hs.211914.

3D structure databases

ProteinModelPortali O75251.
SMRi O75251. Positions 67-202.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 131889. 21 interactions.
IntActi O75251. 5 interactions.
MINTi MINT-3001113.
STRINGi 9606.ENSP00000233627.

Chemistry

ChEMBLi CHEMBL2363065.
DrugBanki DB00997. Doxorubicin.

PTM databases

PhosphoSitei O75251.

Proteomic databases

MaxQBi O75251.
PaxDbi O75251.
PRIDEi O75251.

Protocols and materials databases

DNASUi 374291.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000233627 ; ENSP00000233627 ; ENSG00000115286 .
GeneIDi 374291.
KEGGi hsa:374291.
UCSCi uc002lse.4. human.

Organism-specific databases

CTDi 374291.
GeneCardsi GC19P001384.
H-InvDB HIX0027582.
HGNCi HGNC:7714. NDUFS7.
MIMi 252010. phenotype.
256000. phenotype.
601825. gene.
neXtProti NX_O75251.
Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBi PA31524.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0377.
HOGENOMi HOG000228249.
HOVERGENi HBG001576.
InParanoidi O75251.
KOi K03940.
OMAi QVRGVHS.
OrthoDBi EOG7C8GJ9.
PhylomeDBi O75251.
TreeFami TF312859.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

GeneWikii NDUFS7.
GenomeRNAii 374291.
NextBioi 100146.
PROi O75251.
SOURCEi Search...

Gene expression databases

Bgeei O75251.
CleanExi HS_NDUFS7.
ExpressionAtlasi O75251. baseline and differential.
Genevestigatori O75251.

Family and domain databases

Gene3Di 3.40.50.700. 1 hit.
HAMAPi MF_01356. NDH1_NuoB.
InterProi IPR006137. NADH_UbQ_OxRdtase-like_20kDa.
IPR006138. NADH_UQ_OxRdtase_20Kd_su.
[Graphical view ]
Pfami PF01058. Oxidored_q6. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR01957. nuoB_fam. 1 hit.
PROSITEi PS01150. COMPLEX1_20K. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1).
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  3. "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].
  4. "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] (ISOFORM 1), VARIANT LEU-23.
    Tissue: Brain.
  5. "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: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: VARIANT LS MET-122.
  8. "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.

Entry informationi

Entry nameiNDUS7_HUMAN
AccessioniPrimary (citable) accession number: O75251
Secondary accession number(s): B3KRI2, Q2T9H7, Q9BV17
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: March 21, 2006
Last modified: October 29, 2014
This is version 150 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3