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[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND DISEASE.
DOI=10.1086/301716; PubMed=9463323 [NCBI, ExPASy, EBI, Israel, Japan]
van den Heuvel L.,
Ruitenbeek W.,
Smeets R.,
Gelman-Kohan Z.,
Elpeleg O.,
Loeffen J.,
Trijbels F.,
Mariman E.,
de Bruijn D.,
Smeitink J.;
"Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.";
Am. J. Hum. Genet. 62:262-268(1998).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Urinary bladder;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-32 AND SER-34, AND MASS SPECTROMETRY.
TISSUE=T-cell;
DOI=10.1038/nmeth776; PubMed=16094384 [NCBI, ExPASy, EBI, Israel, Japan]
Tao W.A.,
Wollscheid B.,
O'Brien R.,
Eng J.K.,
Li X.-J.,
Bodenmiller B.,
Watts J.D.,
Hood L.,
Aebersold R.;
"Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry.";
Nat. Methods 2:591-598(2005).
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[4]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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- FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not 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: 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 inner membrane; Peripheral membrane protein; Matrix side.
- DISEASE: Defects in NDUFS4 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.
- SIMILARITY: Belongs to the complex I NDUFS4 subunit family.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=NDUFS4";.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 175 AA [This is the length of the unprocessed precursor] |
Molecular weight: 20108 Da [This is the MW of the unprocessed precursor] |
CRC64: DE5B51DBDD76231E [This is a checksum on the sequence] |
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10 20 30 40 50 60
MAAVSMSVVL RQTLWRRRAV AVAALSVSRV PTRSLRTSTW RLAQDQTQDT QLITVDEKLD
70 80 90 100 110 120
ITTLTGVPEE HIKTRKVRIF VPARNNMQSG VNNTKKWKME FDTRERWENP LMGWASTADP
130 140 150 160 170
LSNMVLTFST KEDAVSFAEK NGWSYDIEER KVPKPKSKSY GANFSWNKRT RVSTK
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O43181 in FASTA format |
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