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P03905

- NU4M_HUMAN

UniProt

P03905 - NU4M_HUMAN

Protein

NADH-ubiquinone oxidoreductase chain 4

Gene

MT-ND4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 1 (21 Jul 1986)
      Previous versions | rss
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    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).

    GO - Molecular functioni

    1. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
    3. respiratory electron transport chain Source: Reactome
    4. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Electron transport, Respiratory chain, Transport

    Keywords - Ligandi

    NAD, Ubiquinone

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    NADH-ubiquinone oxidoreductase chain 4 (EC:1.6.5.3)
    Alternative name(s):
    NADH dehydrogenase subunit 4
    Gene namesi
    Name:MT-ND4
    Synonyms:MTND4, NADH4, ND4
    Encoded oniMitochondrion
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Mitochondrion

    Organism-specific databases

    HGNCiHGNC:7459. MT-ND4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: Reactome
    3. mitochondrial respiratory chain complex I Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti340 – 3401R → H in LHON; primary mutation; almost no vision recovery; most frequent mutation; seems to have no effect on electron transfer activity of the complex in inner mitochondrial membrane preparations. 3 Publications
    VAR_004760
    Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]: Part of a spectrum of Leber hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti313 – 3131V → I in LDYT; possible rare primary mutation. 1 Publication
    VAR_008393
    Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti109 – 1091T → A in MELAS. 1 Publication
    VAR_004759

    Keywords - Diseasei

    Disease mutation, Dystonia, Leber hereditary optic neuropathy, MELAS syndrome

    Organism-specific databases

    MIMi500001. phenotype.
    535000. phenotype.
    540000. phenotype.
    Orphaneti99718. Leber 'plus' disease.
    104. Leber hereditary optic neuropathy.
    255210. Maternally-inherited Leigh syndrome.
    550. MELAS syndrome.
    168609. Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure.
    PharmGKBiPA31263.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 459459NADH-ubiquinone oxidoreductase chain 4PRO_0000117942Add
    BLAST

    Proteomic databases

    PaxDbiP03905.
    PeptideAtlasiP03905.
    PRIDEiP03905.

    PTM databases

    PhosphoSiteiP03905.

    Expressioni

    Gene expression databases

    ArrayExpressiP03905.
    BgeeiP03905.
    GenevestigatoriP03905.

    Organism-specific databases

    HPAiHPA053928.

    Interactioni

    Protein-protein interaction databases

    BioGridi110634. 4 interactions.
    IntActiP03905. 6 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliP03905.
    SMRiP03905. Positions 50-423.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei22 – 4221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei60 – 8021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei102 – 12221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei145 – 16521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei196 – 21621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei224 – 24421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei257 – 27721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei284 – 30320HelicalSequence AnalysisAdd
    BLAST
    Transmembranei308 – 33023HelicalSequence AnalysisAdd
    BLAST
    Transmembranei351 – 37121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei391 – 41121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the complex I subunit 4 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1008.
    HOGENOMiHOG000100683.
    HOVERGENiHBG093667.
    InParanoidiP03905.
    KOiK03881.
    OMAiTIVSAKE.
    OrthoDBiEOG7DJSMN.
    PhylomeDBiP03905.
    TreeFamiTF343520.

    Family and domain databases

    InterProiIPR010227. NADH_Q_OxRdtase_chainM/4.
    IPR001750. NADH_UbQ/plastoQ_OxRdtase.
    IPR003918. NADH_UbQ_OxRdtase.
    IPR000260. NADH_UbQ_OxRdtase_chain4_N.
    [Graphical view]
    PfamiPF00361. Oxidored_q1. 1 hit.
    PF01059. Oxidored_q5_N. 1 hit.
    [Graphical view]
    PRINTSiPR01437. NUOXDRDTASE4.
    TIGRFAMsiTIGR01972. NDH_I_M. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P03905-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLKLIVPTIM LLPLTWLSKK HMIWINTTTH SLIISIIPLL FFNQINNNLF    50
    SCSPTFSSDP LTTPLLMLTT WLLPLTIMAS QRHLSSEPLS RKKLYLSMLI 100
    SLQISLIMTF TATELIMFYI FFETTLIPTL AIITRWGNQP ERLNAGTYFL 150
    FYTLVGSLPL LIALIYTHNT LGSLNILLLT LTAQELSNSW ANNLMWLAYT 200
    MAFMVKMPLY GLHLWLPKAH VEAPIAGSMV LAAVLLKLGG YGMMRLTLIL 250
    NPLTKHMAYP FLVLSLWGMI MTSSICLRQT DLKSLIAYSS ISHMALVVTA 300
    ILIQTPWSFT GAVILMIAHG LTSSLLFCLA NSNYERTHSR IMILSQGLQT 350
    LLPLMAFWWL LASLANLALP PTINLLGELS VLVTTFSWSN ITLLLTGLNM 400
    LVTALYSLYM FTTTQWGSLT HHINNMKPSF TRENTLMFMH LSPILLLSLN 450
    PDIITGFSS 459
    Length:459
    Mass (Da):51,581
    Last modified:July 21, 1986 - v1
    Checksum:i2EEE581F3BD270AF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti230 – 2301V → L(PubMed:1377597)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791A → P.2 Publications
    VAR_008599
    Natural varianti109 – 1091T → A in MELAS. 1 Publication
    VAR_004759
    Natural varianti109 – 1091T → P.1 Publication
    VAR_008600
    Natural varianti132 – 1321I → T.1 Publication
    VAR_008601
    Natural varianti294 – 2941M → T.1 Publication
    VAR_008602
    Natural varianti313 – 3131V → I in LDYT; possible rare primary mutation. 1 Publication
    VAR_008393
    Natural varianti340 – 3401R → H in LHON; primary mutation; almost no vision recovery; most frequent mutation; seems to have no effect on electron transfer activity of the complex in inner mitochondrial membrane preparations. 3 Publications
    VAR_004760
    Natural varianti420 – 4201T → A Detected in a patient with mitochondrial complex I deficiency; uncertain pathological significance. 1 Publication
    VAR_064565

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J01415 Genomic DNA. Translation: AAB58952.1.
    V00662 Genomic DNA. Translation: CAA24035.1.
    AY495090 Genomic DNA. Translation: AAR92505.1.
    AY495091 Genomic DNA. Translation: AAR92518.1.
    AY495092 Genomic DNA. Translation: AAR92531.1.
    AY495093 Genomic DNA. Translation: AAR92544.1.
    AY495094 Genomic DNA. Translation: AAR92557.1.
    AY495095 Genomic DNA. Translation: AAR92570.1.
    AY495096 Genomic DNA. Translation: AAR92583.1.
    AY495097 Genomic DNA. Translation: AAR92596.1.
    AY495098 Genomic DNA. Translation: AAR92609.1.
    AY495099 Genomic DNA. Translation: AAR92622.1.
    AY495100 Genomic DNA. Translation: AAR92635.1.
    AY495101 Genomic DNA. Translation: AAR92648.1.
    AY495102 Genomic DNA. Translation: AAR92661.1.
    AY495103 Genomic DNA. Translation: AAR92674.1.
    AY495104 Genomic DNA. Translation: AAR92687.1.
    AY495106 Genomic DNA. Translation: AAR92713.1.
    AY495107 Genomic DNA. Translation: AAR92726.1.
    AY495108 Genomic DNA. Translation: AAR92739.1.
    AY495109 Genomic DNA. Translation: AAR92752.1.
    AY495110 Genomic DNA. Translation: AAR92765.1.
    AY495111 Genomic DNA. Translation: AAR92778.1.
    AY495112 Genomic DNA. Translation: AAR92791.1.
    AY495113 Genomic DNA. Translation: AAR92804.1.
    AY495114 Genomic DNA. Translation: AAR92817.1.
    AY495115 Genomic DNA. Translation: AAR92830.1.
    AY495116 Genomic DNA. Translation: AAR92843.1.
    AY495117 Genomic DNA. Translation: AAR92856.1.
    AY495118 Genomic DNA. Translation: AAR92869.1.
    AY495119 Genomic DNA. Translation: AAR92882.1.
    AY495120 Genomic DNA. Translation: AAR92895.1.
    AY495121 Genomic DNA. Translation: AAR92908.1.
    AY495122 Genomic DNA. Translation: AAR92921.1.
    AY495123 Genomic DNA. Translation: AAR92934.1.
    AY495124 Genomic DNA. Translation: AAR92947.1.
    AY495125 Genomic DNA. Translation: AAR92960.1.
    AY495126 Genomic DNA. Translation: AAR92973.1.
    AY495127 Genomic DNA. Translation: AAR92986.1.
    AY495128 Genomic DNA. Translation: AAR92999.1.
    AY495129 Genomic DNA. Translation: AAR93012.1.
    AY495130 Genomic DNA. Translation: AAR93025.1.
    AY495131 Genomic DNA. Translation: AAR93038.1.
    AY495132 Genomic DNA. Translation: AAR93051.1.
    AY495133 Genomic DNA. Translation: AAR93064.1.
    AY495134 Genomic DNA. Translation: AAR93077.1.
    AY495135 Genomic DNA. Translation: AAR93090.1.
    AY495136 Genomic DNA. Translation: AAR93103.1.
    AY495137 Genomic DNA. Translation: AAR93116.1.
    AY495138 Genomic DNA. Translation: AAR93129.1.
    AY495139 Genomic DNA. Translation: AAR93142.1.
    AY495140 Genomic DNA. Translation: AAR93155.1.
    AY495141 Genomic DNA. Translation: AAR93168.1.
    AY495142 Genomic DNA. Translation: AAR93181.1.
    AY495143 Genomic DNA. Translation: AAR93194.1.
    AY495144 Genomic DNA. Translation: AAR93207.1.
    AY495145 Genomic DNA. Translation: AAR93220.1.
    AY495146 Genomic DNA. Translation: AAR93233.1.
    AY495147 Genomic DNA. Translation: AAR93246.1.
    AY495148 Genomic DNA. Translation: AAR93259.1.
    AY495149 Genomic DNA. Translation: AAR93272.1.
    AY495150 Genomic DNA. Translation: AAR93285.1.
    AY495151 Genomic DNA. Translation: AAR93298.1.
    AY495152 Genomic DNA. Translation: AAR93311.1.
    AY495153 Genomic DNA. Translation: AAR93324.1.
    AY495154 Genomic DNA. Translation: AAR93337.1.
    AY495155 Genomic DNA. Translation: AAR93350.1.
    AY495156 Genomic DNA. Translation: AAR93363.1.
    AY495157 Genomic DNA. Translation: AAR93376.1.
    AY495158 Genomic DNA. Translation: AAR93389.1.
    AY495159 Genomic DNA. Translation: AAR93402.1.
    AY495160 Genomic DNA. Translation: AAR93415.1.
    AY495161 Genomic DNA. Translation: AAR93428.1.
    AY495162 Genomic DNA. Translation: AAR93441.1.
    AY495163 Genomic DNA. Translation: AAR93454.1.
    AY495164 Genomic DNA. Translation: AAR93467.1.
    AY495165 Genomic DNA. Translation: AAR93480.1.
    AY495167 Genomic DNA. Translation: AAR93506.1.
    AY495168 Genomic DNA. Translation: AAR93519.1.
    AY495169 Genomic DNA. Translation: AAR93532.1.
    AY495171 Genomic DNA. Translation: AAR93558.1.
    AY495172 Genomic DNA. Translation: AAR93571.1.
    AY495173 Genomic DNA. Translation: AAR93584.1.
    AY495174 Genomic DNA. Translation: AAR93597.1.
    AY495175 Genomic DNA. Translation: AAR93610.1.
    AY495176 Genomic DNA. Translation: AAR93623.1.
    AY495177 Genomic DNA. Translation: AAR93636.1.
    AY495178 Genomic DNA. Translation: AAR93649.1.
    AY495179 Genomic DNA. Translation: AAR93662.1.
    AY495180 Genomic DNA. Translation: AAR93675.1.
    AY495181 Genomic DNA. Translation: AAR93688.1.
    AY495182 Genomic DNA. Translation: AAR93701.1.
    AY495183 Genomic DNA. Translation: AAR93714.1.
    AY495184 Genomic DNA. Translation: AAR93727.1.
    AY495185 Genomic DNA. Translation: AAR93740.1.
    AY495186 Genomic DNA. Translation: AAR93753.1.
    AY495187 Genomic DNA. Translation: AAR93766.1.
    AY495188 Genomic DNA. Translation: AAR93779.1.
    AY495189 Genomic DNA. Translation: AAR93792.1.
    AY495190 Genomic DNA. Translation: AAR93805.1.
    AY495191 Genomic DNA. Translation: AAR93818.1.
    AY495192 Genomic DNA. Translation: AAR93831.1.
    AY495193 Genomic DNA. Translation: AAR93844.1.
    AY495194 Genomic DNA. Translation: AAR93857.1.
    AY495239 Genomic DNA. Translation: AAR94442.1.
    AY495240 Genomic DNA. Translation: AAR94455.1.
    AY495241 Genomic DNA. Translation: AAR94468.1.
    AY495242 Genomic DNA. Translation: AAR94481.1.
    AY495244 Genomic DNA. Translation: AAR94507.1.
    AY495246 Genomic DNA. Translation: AAR94533.1.
    AY495247 Genomic DNA. Translation: AAR94546.1.
    AY495248 Genomic DNA. Translation: AAR94559.1.
    AY495249 Genomic DNA. Translation: AAR94572.1.
    AY495252 Genomic DNA. Translation: AAR94611.1.
    AY495267 Genomic DNA. Translation: AAR94806.1.
    AY495268 Genomic DNA. Translation: AAR94819.1.
    AY495269 Genomic DNA. Translation: AAR94832.1.
    AY495270 Genomic DNA. Translation: AAR94845.1.
    AY495271 Genomic DNA. Translation: AAR94858.1.
    AY495272 Genomic DNA. Translation: AAR94871.1.
    AY495273 Genomic DNA. Translation: AAR94884.1.
    AY495274 Genomic DNA. Translation: AAR94897.1.
    AY495275 Genomic DNA. Translation: AAR94910.1.
    AY495276 Genomic DNA. Translation: AAR94923.1.
    AY495277 Genomic DNA. Translation: AAR94936.1.
    AY495278 Genomic DNA. Translation: AAR94949.1.
    AY495279 Genomic DNA. Translation: AAR94962.1.
    AY495280 Genomic DNA. Translation: AAR94975.1.
    AY495281 Genomic DNA. Translation: AAR94988.1.
    AY495282 Genomic DNA. Translation: AAR95001.1.
    AY495283 Genomic DNA. Translation: AAR95014.1.
    AY495284 Genomic DNA. Translation: AAR95027.1.
    AY495285 Genomic DNA. Translation: AAR95040.1.
    AY495286 Genomic DNA. Translation: AAR95053.1.
    AY495287 Genomic DNA. Translation: AAR95066.1.
    AY495288 Genomic DNA. Translation: AAR95079.1.
    AY495289 Genomic DNA. Translation: AAR95092.1.
    AY495290 Genomic DNA. Translation: AAR95105.1.
    AY495291 Genomic DNA. Translation: AAR95118.1.
    AY495292 Genomic DNA. Translation: AAR95131.1.
    AY495293 Genomic DNA. Translation: AAR95144.1.
    AY495294 Genomic DNA. Translation: AAR95157.1.
    AY495295 Genomic DNA. Translation: AAR95170.1.
    AY495297 Genomic DNA. Translation: AAR95196.1.
    AY495298 Genomic DNA. Translation: AAR95209.1.
    AY495299 Genomic DNA. Translation: AAR95222.1.
    AY495300 Genomic DNA. Translation: AAR95235.1.
    AY495301 Genomic DNA. Translation: AAR95248.1.
    AY495302 Genomic DNA. Translation: AAR95261.1.
    AY495303 Genomic DNA. Translation: AAR95274.1.
    AY495304 Genomic DNA. Translation: AAR95287.1.
    AY495305 Genomic DNA. Translation: AAR95300.1.
    AY495306 Genomic DNA. Translation: AAR95313.1.
    AY495307 Genomic DNA. Translation: AAR95326.1.
    AY495308 Genomic DNA. Translation: AAR95339.1.
    AY495309 Genomic DNA. Translation: AAR95352.1.
    AY495310 Genomic DNA. Translation: AAR95365.1.
    AY495311 Genomic DNA. Translation: AAR95378.1.
    AY495312 Genomic DNA. Translation: AAR95391.1.
    AY495313 Genomic DNA. Translation: AAR95404.1.
    AY495314 Genomic DNA. Translation: AAR95417.1.
    AY495315 Genomic DNA. Translation: AAR95430.1.
    AY495316 Genomic DNA. Translation: AAR95443.1.
    AY495317 Genomic DNA. Translation: AAR95456.1.
    AY495318 Genomic DNA. Translation: AAR95469.1.
    AY495319 Genomic DNA. Translation: AAR95482.1.
    AY495320 Genomic DNA. Translation: AAR95495.1.
    AY495321 Genomic DNA. Translation: AAR95508.1.
    AY495322 Genomic DNA. Translation: AAR95521.1.
    AY495323 Genomic DNA. Translation: AAR95534.1.
    AY495324 Genomic DNA. Translation: AAR95547.1.
    AY495325 Genomic DNA. Translation: AAR95560.1.
    AY495326 Genomic DNA. Translation: AAR95573.1.
    AY495327 Genomic DNA. Translation: AAR95586.1.
    AY495328 Genomic DNA. Translation: AAR95599.1.
    AY495329 Genomic DNA. Translation: AAR95612.1.
    AY495330 Genomic DNA. Translation: AAR95625.1.
    AF465942 Genomic DNA. Translation: AAN14556.1.
    AF346963 Genomic DNA. Translation: AAK17216.1.
    AF346964 Genomic DNA. Translation: AAK17229.2.
    AF346966 Genomic DNA. Translation: AAK17255.1.
    AF346967 Genomic DNA. Translation: AAK17268.2.
    AF346968 Genomic DNA. Translation: AAK17281.2.
    AF346969 Genomic DNA. Translation: AAK17294.2.
    AF346971 Genomic DNA. Translation: AAK17320.2.
    AF346974 Genomic DNA. Translation: AAK17359.2.
    AF346975 Genomic DNA. Translation: AAK17372.2.
    AF346977 Genomic DNA. Translation: AAK17398.1.
    AF346978 Genomic DNA. Translation: AAK17411.1.
    AF346980 Genomic DNA. Translation: AAK17437.2.
    AF346981 Genomic DNA. Translation: AAK17450.2.
    AF346982 Genomic DNA. Translation: AAK17463.1.
    AF346985 Genomic DNA. Translation: AAK17502.2.
    AF346986 Genomic DNA. Translation: AAK17515.2.
    AF346987 Genomic DNA. Translation: AAK17528.2.
    AF346989 Genomic DNA. Translation: AAK17554.2.
    AF346990 Genomic DNA. Translation: AAK17567.1.
    AF346993 Genomic DNA. Translation: AAK17606.2.
    AF346994 Genomic DNA. Translation: AAK17619.2.
    AF346996 Genomic DNA. Translation: AAK17645.2.
    AF346997 Genomic DNA. Translation: AAK17658.2.
    AF347000 Genomic DNA. Translation: AAK17697.1.
    AF347002 Genomic DNA. Translation: AAK17723.2.
    AF347003 Genomic DNA. Translation: AAK17736.2.
    AF347004 Genomic DNA. Translation: AAK17749.2.
    AF347005 Genomic DNA. Translation: AAK17762.2.
    AF347006 Genomic DNA. Translation: AAK17775.2.
    AF347007 Genomic DNA. Translation: AAK17788.2.
    AF347010 Genomic DNA. Translation: AAK17827.2.
    AF347011 Genomic DNA. Translation: AAK17840.2.
    AF347012 Genomic DNA. Translation: AAK17853.2.
    AF347013 Genomic DNA. Translation: AAK17866.2.
    AF347014 Genomic DNA. Translation: AAK17879.2.
    AF347015 Genomic DNA. Translation: AAK17892.2.
    AY289051 Genomic DNA. Translation: AAP47889.1.
    AY289052 Genomic DNA. Translation: AAP47902.1.
    AY289055 Genomic DNA. Translation: AAP47941.1.
    AY289056 Genomic DNA. Translation: AAP47954.1.
    AY289058 Genomic DNA. Translation: AAP47980.1.
    AY289059 Genomic DNA. Translation: AAP47993.1.
    AY289060 Genomic DNA. Translation: AAP48006.1.
    AY289061 Genomic DNA. Translation: AAP48019.1.
    AY289062 Genomic DNA. Translation: AAP48032.1.
    AY289063 Genomic DNA. Translation: AAP48045.1.
    AY289065 Genomic DNA. Translation: AAP48071.1.
    AY289068 Genomic DNA. Translation: AAP48110.1.
    AY289069 Genomic DNA. Translation: AAP48123.1.
    AY289070 Genomic DNA. Translation: AAP48136.1.
    AY289071 Genomic DNA. Translation: AAP48149.1.
    AY289073 Genomic DNA. Translation: AAP48175.1.
    AY289074 Genomic DNA. Translation: AAP48188.1.
    AY289075 Genomic DNA. Translation: AAP48201.1.
    AY289076 Genomic DNA. Translation: AAP48214.1.
    AY289077 Genomic DNA. Translation: AAP48227.1.
    AY289079 Genomic DNA. Translation: AAP48253.1.
    AY289080 Genomic DNA. Translation: AAP48266.1.
    AY289081 Genomic DNA. Translation: AAP48279.1.
    AY289082 Genomic DNA. Translation: AAP48292.1.
    AY289083 Genomic DNA. Translation: AAP48305.1.
    AY289084 Genomic DNA. Translation: AAP48318.1.
    AY289085 Genomic DNA. Translation: AAP48331.1.
    AY289087 Genomic DNA. Translation: AAP48357.1.
    AY289088 Genomic DNA. Translation: AAP48370.1.
    AY289090 Genomic DNA. Translation: AAP48396.1.
    AY289091 Genomic DNA. Translation: AAP48409.1.
    AY289092 Genomic DNA. Translation: AAP48422.1.
    AY289093 Genomic DNA. Translation: AAP48434.1.
    AY289094 Genomic DNA. Translation: AAP48447.1.
    AY289095 Genomic DNA. Translation: AAP48460.1.
    AY289096 Genomic DNA. Translation: AAP48473.1.
    AY289097 Genomic DNA. Translation: AAP48486.1.
    AY289098 Genomic DNA. Translation: AAP48499.1.
    AY289099 Genomic DNA. Translation: AAP48512.1.
    AY289100 Genomic DNA. Translation: AAP48525.1.
    AY289101 Genomic DNA. Translation: AAP48538.1.
    AY289102 Genomic DNA. Translation: AAP48551.1.
    PIRiA00434. DNHUN4.
    RefSeqiYP_003024035.1. NC_012920.1.

    Genome annotation databases

    EnsembliENST00000361381; ENSP00000354961; ENSG00000198886.
    GeneIDi4538.
    KEGGihsa:4538.

    Polymorphism databases

    DMDMi128748.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J01415 Genomic DNA. Translation: AAB58952.1 .
    V00662 Genomic DNA. Translation: CAA24035.1 .
    AY495090 Genomic DNA. Translation: AAR92505.1 .
    AY495091 Genomic DNA. Translation: AAR92518.1 .
    AY495092 Genomic DNA. Translation: AAR92531.1 .
    AY495093 Genomic DNA. Translation: AAR92544.1 .
    AY495094 Genomic DNA. Translation: AAR92557.1 .
    AY495095 Genomic DNA. Translation: AAR92570.1 .
    AY495096 Genomic DNA. Translation: AAR92583.1 .
    AY495097 Genomic DNA. Translation: AAR92596.1 .
    AY495098 Genomic DNA. Translation: AAR92609.1 .
    AY495099 Genomic DNA. Translation: AAR92622.1 .
    AY495100 Genomic DNA. Translation: AAR92635.1 .
    AY495101 Genomic DNA. Translation: AAR92648.1 .
    AY495102 Genomic DNA. Translation: AAR92661.1 .
    AY495103 Genomic DNA. Translation: AAR92674.1 .
    AY495104 Genomic DNA. Translation: AAR92687.1 .
    AY495106 Genomic DNA. Translation: AAR92713.1 .
    AY495107 Genomic DNA. Translation: AAR92726.1 .
    AY495108 Genomic DNA. Translation: AAR92739.1 .
    AY495109 Genomic DNA. Translation: AAR92752.1 .
    AY495110 Genomic DNA. Translation: AAR92765.1 .
    AY495111 Genomic DNA. Translation: AAR92778.1 .
    AY495112 Genomic DNA. Translation: AAR92791.1 .
    AY495113 Genomic DNA. Translation: AAR92804.1 .
    AY495114 Genomic DNA. Translation: AAR92817.1 .
    AY495115 Genomic DNA. Translation: AAR92830.1 .
    AY495116 Genomic DNA. Translation: AAR92843.1 .
    AY495117 Genomic DNA. Translation: AAR92856.1 .
    AY495118 Genomic DNA. Translation: AAR92869.1 .
    AY495119 Genomic DNA. Translation: AAR92882.1 .
    AY495120 Genomic DNA. Translation: AAR92895.1 .
    AY495121 Genomic DNA. Translation: AAR92908.1 .
    AY495122 Genomic DNA. Translation: AAR92921.1 .
    AY495123 Genomic DNA. Translation: AAR92934.1 .
    AY495124 Genomic DNA. Translation: AAR92947.1 .
    AY495125 Genomic DNA. Translation: AAR92960.1 .
    AY495126 Genomic DNA. Translation: AAR92973.1 .
    AY495127 Genomic DNA. Translation: AAR92986.1 .
    AY495128 Genomic DNA. Translation: AAR92999.1 .
    AY495129 Genomic DNA. Translation: AAR93012.1 .
    AY495130 Genomic DNA. Translation: AAR93025.1 .
    AY495131 Genomic DNA. Translation: AAR93038.1 .
    AY495132 Genomic DNA. Translation: AAR93051.1 .
    AY495133 Genomic DNA. Translation: AAR93064.1 .
    AY495134 Genomic DNA. Translation: AAR93077.1 .
    AY495135 Genomic DNA. Translation: AAR93090.1 .
    AY495136 Genomic DNA. Translation: AAR93103.1 .
    AY495137 Genomic DNA. Translation: AAR93116.1 .
    AY495138 Genomic DNA. Translation: AAR93129.1 .
    AY495139 Genomic DNA. Translation: AAR93142.1 .
    AY495140 Genomic DNA. Translation: AAR93155.1 .
    AY495141 Genomic DNA. Translation: AAR93168.1 .
    AY495142 Genomic DNA. Translation: AAR93181.1 .
    AY495143 Genomic DNA. Translation: AAR93194.1 .
    AY495144 Genomic DNA. Translation: AAR93207.1 .
    AY495145 Genomic DNA. Translation: AAR93220.1 .
    AY495146 Genomic DNA. Translation: AAR93233.1 .
    AY495147 Genomic DNA. Translation: AAR93246.1 .
    AY495148 Genomic DNA. Translation: AAR93259.1 .
    AY495149 Genomic DNA. Translation: AAR93272.1 .
    AY495150 Genomic DNA. Translation: AAR93285.1 .
    AY495151 Genomic DNA. Translation: AAR93298.1 .
    AY495152 Genomic DNA. Translation: AAR93311.1 .
    AY495153 Genomic DNA. Translation: AAR93324.1 .
    AY495154 Genomic DNA. Translation: AAR93337.1 .
    AY495155 Genomic DNA. Translation: AAR93350.1 .
    AY495156 Genomic DNA. Translation: AAR93363.1 .
    AY495157 Genomic DNA. Translation: AAR93376.1 .
    AY495158 Genomic DNA. Translation: AAR93389.1 .
    AY495159 Genomic DNA. Translation: AAR93402.1 .
    AY495160 Genomic DNA. Translation: AAR93415.1 .
    AY495161 Genomic DNA. Translation: AAR93428.1 .
    AY495162 Genomic DNA. Translation: AAR93441.1 .
    AY495163 Genomic DNA. Translation: AAR93454.1 .
    AY495164 Genomic DNA. Translation: AAR93467.1 .
    AY495165 Genomic DNA. Translation: AAR93480.1 .
    AY495167 Genomic DNA. Translation: AAR93506.1 .
    AY495168 Genomic DNA. Translation: AAR93519.1 .
    AY495169 Genomic DNA. Translation: AAR93532.1 .
    AY495171 Genomic DNA. Translation: AAR93558.1 .
    AY495172 Genomic DNA. Translation: AAR93571.1 .
    AY495173 Genomic DNA. Translation: AAR93584.1 .
    AY495174 Genomic DNA. Translation: AAR93597.1 .
    AY495175 Genomic DNA. Translation: AAR93610.1 .
    AY495176 Genomic DNA. Translation: AAR93623.1 .
    AY495177 Genomic DNA. Translation: AAR93636.1 .
    AY495178 Genomic DNA. Translation: AAR93649.1 .
    AY495179 Genomic DNA. Translation: AAR93662.1 .
    AY495180 Genomic DNA. Translation: AAR93675.1 .
    AY495181 Genomic DNA. Translation: AAR93688.1 .
    AY495182 Genomic DNA. Translation: AAR93701.1 .
    AY495183 Genomic DNA. Translation: AAR93714.1 .
    AY495184 Genomic DNA. Translation: AAR93727.1 .
    AY495185 Genomic DNA. Translation: AAR93740.1 .
    AY495186 Genomic DNA. Translation: AAR93753.1 .
    AY495187 Genomic DNA. Translation: AAR93766.1 .
    AY495188 Genomic DNA. Translation: AAR93779.1 .
    AY495189 Genomic DNA. Translation: AAR93792.1 .
    AY495190 Genomic DNA. Translation: AAR93805.1 .
    AY495191 Genomic DNA. Translation: AAR93818.1 .
    AY495192 Genomic DNA. Translation: AAR93831.1 .
    AY495193 Genomic DNA. Translation: AAR93844.1 .
    AY495194 Genomic DNA. Translation: AAR93857.1 .
    AY495239 Genomic DNA. Translation: AAR94442.1 .
    AY495240 Genomic DNA. Translation: AAR94455.1 .
    AY495241 Genomic DNA. Translation: AAR94468.1 .
    AY495242 Genomic DNA. Translation: AAR94481.1 .
    AY495244 Genomic DNA. Translation: AAR94507.1 .
    AY495246 Genomic DNA. Translation: AAR94533.1 .
    AY495247 Genomic DNA. Translation: AAR94546.1 .
    AY495248 Genomic DNA. Translation: AAR94559.1 .
    AY495249 Genomic DNA. Translation: AAR94572.1 .
    AY495252 Genomic DNA. Translation: AAR94611.1 .
    AY495267 Genomic DNA. Translation: AAR94806.1 .
    AY495268 Genomic DNA. Translation: AAR94819.1 .
    AY495269 Genomic DNA. Translation: AAR94832.1 .
    AY495270 Genomic DNA. Translation: AAR94845.1 .
    AY495271 Genomic DNA. Translation: AAR94858.1 .
    AY495272 Genomic DNA. Translation: AAR94871.1 .
    AY495273 Genomic DNA. Translation: AAR94884.1 .
    AY495274 Genomic DNA. Translation: AAR94897.1 .
    AY495275 Genomic DNA. Translation: AAR94910.1 .
    AY495276 Genomic DNA. Translation: AAR94923.1 .
    AY495277 Genomic DNA. Translation: AAR94936.1 .
    AY495278 Genomic DNA. Translation: AAR94949.1 .
    AY495279 Genomic DNA. Translation: AAR94962.1 .
    AY495280 Genomic DNA. Translation: AAR94975.1 .
    AY495281 Genomic DNA. Translation: AAR94988.1 .
    AY495282 Genomic DNA. Translation: AAR95001.1 .
    AY495283 Genomic DNA. Translation: AAR95014.1 .
    AY495284 Genomic DNA. Translation: AAR95027.1 .
    AY495285 Genomic DNA. Translation: AAR95040.1 .
    AY495286 Genomic DNA. Translation: AAR95053.1 .
    AY495287 Genomic DNA. Translation: AAR95066.1 .
    AY495288 Genomic DNA. Translation: AAR95079.1 .
    AY495289 Genomic DNA. Translation: AAR95092.1 .
    AY495290 Genomic DNA. Translation: AAR95105.1 .
    AY495291 Genomic DNA. Translation: AAR95118.1 .
    AY495292 Genomic DNA. Translation: AAR95131.1 .
    AY495293 Genomic DNA. Translation: AAR95144.1 .
    AY495294 Genomic DNA. Translation: AAR95157.1 .
    AY495295 Genomic DNA. Translation: AAR95170.1 .
    AY495297 Genomic DNA. Translation: AAR95196.1 .
    AY495298 Genomic DNA. Translation: AAR95209.1 .
    AY495299 Genomic DNA. Translation: AAR95222.1 .
    AY495300 Genomic DNA. Translation: AAR95235.1 .
    AY495301 Genomic DNA. Translation: AAR95248.1 .
    AY495302 Genomic DNA. Translation: AAR95261.1 .
    AY495303 Genomic DNA. Translation: AAR95274.1 .
    AY495304 Genomic DNA. Translation: AAR95287.1 .
    AY495305 Genomic DNA. Translation: AAR95300.1 .
    AY495306 Genomic DNA. Translation: AAR95313.1 .
    AY495307 Genomic DNA. Translation: AAR95326.1 .
    AY495308 Genomic DNA. Translation: AAR95339.1 .
    AY495309 Genomic DNA. Translation: AAR95352.1 .
    AY495310 Genomic DNA. Translation: AAR95365.1 .
    AY495311 Genomic DNA. Translation: AAR95378.1 .
    AY495312 Genomic DNA. Translation: AAR95391.1 .
    AY495313 Genomic DNA. Translation: AAR95404.1 .
    AY495314 Genomic DNA. Translation: AAR95417.1 .
    AY495315 Genomic DNA. Translation: AAR95430.1 .
    AY495316 Genomic DNA. Translation: AAR95443.1 .
    AY495317 Genomic DNA. Translation: AAR95456.1 .
    AY495318 Genomic DNA. Translation: AAR95469.1 .
    AY495319 Genomic DNA. Translation: AAR95482.1 .
    AY495320 Genomic DNA. Translation: AAR95495.1 .
    AY495321 Genomic DNA. Translation: AAR95508.1 .
    AY495322 Genomic DNA. Translation: AAR95521.1 .
    AY495323 Genomic DNA. Translation: AAR95534.1 .
    AY495324 Genomic DNA. Translation: AAR95547.1 .
    AY495325 Genomic DNA. Translation: AAR95560.1 .
    AY495326 Genomic DNA. Translation: AAR95573.1 .
    AY495327 Genomic DNA. Translation: AAR95586.1 .
    AY495328 Genomic DNA. Translation: AAR95599.1 .
    AY495329 Genomic DNA. Translation: AAR95612.1 .
    AY495330 Genomic DNA. Translation: AAR95625.1 .
    AF465942 Genomic DNA. Translation: AAN14556.1 .
    AF346963 Genomic DNA. Translation: AAK17216.1 .
    AF346964 Genomic DNA. Translation: AAK17229.2 .
    AF346966 Genomic DNA. Translation: AAK17255.1 .
    AF346967 Genomic DNA. Translation: AAK17268.2 .
    AF346968 Genomic DNA. Translation: AAK17281.2 .
    AF346969 Genomic DNA. Translation: AAK17294.2 .
    AF346971 Genomic DNA. Translation: AAK17320.2 .
    AF346974 Genomic DNA. Translation: AAK17359.2 .
    AF346975 Genomic DNA. Translation: AAK17372.2 .
    AF346977 Genomic DNA. Translation: AAK17398.1 .
    AF346978 Genomic DNA. Translation: AAK17411.1 .
    AF346980 Genomic DNA. Translation: AAK17437.2 .
    AF346981 Genomic DNA. Translation: AAK17450.2 .
    AF346982 Genomic DNA. Translation: AAK17463.1 .
    AF346985 Genomic DNA. Translation: AAK17502.2 .
    AF346986 Genomic DNA. Translation: AAK17515.2 .
    AF346987 Genomic DNA. Translation: AAK17528.2 .
    AF346989 Genomic DNA. Translation: AAK17554.2 .
    AF346990 Genomic DNA. Translation: AAK17567.1 .
    AF346993 Genomic DNA. Translation: AAK17606.2 .
    AF346994 Genomic DNA. Translation: AAK17619.2 .
    AF346996 Genomic DNA. Translation: AAK17645.2 .
    AF346997 Genomic DNA. Translation: AAK17658.2 .
    AF347000 Genomic DNA. Translation: AAK17697.1 .
    AF347002 Genomic DNA. Translation: AAK17723.2 .
    AF347003 Genomic DNA. Translation: AAK17736.2 .
    AF347004 Genomic DNA. Translation: AAK17749.2 .
    AF347005 Genomic DNA. Translation: AAK17762.2 .
    AF347006 Genomic DNA. Translation: AAK17775.2 .
    AF347007 Genomic DNA. Translation: AAK17788.2 .
    AF347010 Genomic DNA. Translation: AAK17827.2 .
    AF347011 Genomic DNA. Translation: AAK17840.2 .
    AF347012 Genomic DNA. Translation: AAK17853.2 .
    AF347013 Genomic DNA. Translation: AAK17866.2 .
    AF347014 Genomic DNA. Translation: AAK17879.2 .
    AF347015 Genomic DNA. Translation: AAK17892.2 .
    AY289051 Genomic DNA. Translation: AAP47889.1 .
    AY289052 Genomic DNA. Translation: AAP47902.1 .
    AY289055 Genomic DNA. Translation: AAP47941.1 .
    AY289056 Genomic DNA. Translation: AAP47954.1 .
    AY289058 Genomic DNA. Translation: AAP47980.1 .
    AY289059 Genomic DNA. Translation: AAP47993.1 .
    AY289060 Genomic DNA. Translation: AAP48006.1 .
    AY289061 Genomic DNA. Translation: AAP48019.1 .
    AY289062 Genomic DNA. Translation: AAP48032.1 .
    AY289063 Genomic DNA. Translation: AAP48045.1 .
    AY289065 Genomic DNA. Translation: AAP48071.1 .
    AY289068 Genomic DNA. Translation: AAP48110.1 .
    AY289069 Genomic DNA. Translation: AAP48123.1 .
    AY289070 Genomic DNA. Translation: AAP48136.1 .
    AY289071 Genomic DNA. Translation: AAP48149.1 .
    AY289073 Genomic DNA. Translation: AAP48175.1 .
    AY289074 Genomic DNA. Translation: AAP48188.1 .
    AY289075 Genomic DNA. Translation: AAP48201.1 .
    AY289076 Genomic DNA. Translation: AAP48214.1 .
    AY289077 Genomic DNA. Translation: AAP48227.1 .
    AY289079 Genomic DNA. Translation: AAP48253.1 .
    AY289080 Genomic DNA. Translation: AAP48266.1 .
    AY289081 Genomic DNA. Translation: AAP48279.1 .
    AY289082 Genomic DNA. Translation: AAP48292.1 .
    AY289083 Genomic DNA. Translation: AAP48305.1 .
    AY289084 Genomic DNA. Translation: AAP48318.1 .
    AY289085 Genomic DNA. Translation: AAP48331.1 .
    AY289087 Genomic DNA. Translation: AAP48357.1 .
    AY289088 Genomic DNA. Translation: AAP48370.1 .
    AY289090 Genomic DNA. Translation: AAP48396.1 .
    AY289091 Genomic DNA. Translation: AAP48409.1 .
    AY289092 Genomic DNA. Translation: AAP48422.1 .
    AY289093 Genomic DNA. Translation: AAP48434.1 .
    AY289094 Genomic DNA. Translation: AAP48447.1 .
    AY289095 Genomic DNA. Translation: AAP48460.1 .
    AY289096 Genomic DNA. Translation: AAP48473.1 .
    AY289097 Genomic DNA. Translation: AAP48486.1 .
    AY289098 Genomic DNA. Translation: AAP48499.1 .
    AY289099 Genomic DNA. Translation: AAP48512.1 .
    AY289100 Genomic DNA. Translation: AAP48525.1 .
    AY289101 Genomic DNA. Translation: AAP48538.1 .
    AY289102 Genomic DNA. Translation: AAP48551.1 .
    PIRi A00434. DNHUN4.
    RefSeqi YP_003024035.1. NC_012920.1.

    3D structure databases

    ProteinModelPortali P03905.
    SMRi P03905. Positions 50-423.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110634. 4 interactions.
    IntActi P03905. 6 interactions.

    Chemistry

    BindingDBi P03905.
    ChEMBLi CHEMBL2363065.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei P03905.

    Polymorphism databases

    DMDMi 128748.

    Proteomic databases

    PaxDbi P03905.
    PeptideAtlasi P03905.
    PRIDEi P03905.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361381 ; ENSP00000354961 ; ENSG00000198886 .
    GeneIDi 4538.
    KEGGi hsa:4538.

    Organism-specific databases

    CTDi 4538.
    GeneCardsi GCMTP010762.
    GeneReviewsi MT-ND4.
    H-InvDB HIX0080294.
    HGNCi HGNC:7459. MT-ND4.
    HPAi HPA053928.
    MIMi 500001. phenotype.
    516003. gene.
    535000. phenotype.
    540000. phenotype.
    neXtProti NX_P03905.
    Orphaneti 99718. Leber 'plus' disease.
    104. Leber hereditary optic neuropathy.
    255210. Maternally-inherited Leigh syndrome.
    550. MELAS syndrome.
    168609. Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure.
    PharmGKBi PA31263.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1008.
    HOGENOMi HOG000100683.
    HOVERGENi HBG093667.
    InParanoidi P03905.
    KOi K03881.
    OMAi TIVSAKE.
    OrthoDBi EOG7DJSMN.
    PhylomeDBi P03905.
    TreeFami TF343520.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    GeneWikii MT-ND4.
    GenomeRNAii 4538.
    NextBioi 17505.
    PROi P03905.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P03905.
    Bgeei P03905.
    Genevestigatori P03905.

    Family and domain databases

    InterProi IPR010227. NADH_Q_OxRdtase_chainM/4.
    IPR001750. NADH_UbQ/plastoQ_OxRdtase.
    IPR003918. NADH_UbQ_OxRdtase.
    IPR000260. NADH_UbQ_OxRdtase_chain4_N.
    [Graphical view ]
    Pfami PF00361. Oxidored_q1. 1 hit.
    PF01059. Oxidored_q5_N. 1 hit.
    [Graphical view ]
    PRINTSi PR01437. NUOXDRDTASE4.
    TIGRFAMsi TIGR01972. NDH_I_M. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Differentiation of HT-29 human colonic adenocarcinoma cells correlates with increased expression of mitochondrial RNA: effects of trehalose on cell growth and maturation."
      Lu X., Walker T., Macmanus J.P., Seligy V.L.
      Cancer Res. 52:3718-3725(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-79.
    4. "Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J."
      Moilanen J.S., Finnila S., Majamaa K.
      Mol. Biol. Evol. 20:2132-2142(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "Mitochondrial genome variation and the origin of modern humans."
      Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.
      Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    6. "Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines."
      Ingman M., Gyllensten U.
      Genome Res. 13:1600-1606(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    7. "Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians."
      Coble M.D., Just R.S., O'Callaghan J.E., Letmanyi I.H., Peterson C.T., Irwin J.A., Parsons T.J.
      Int. J. Legal Med. 118:137-146(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    8. "Mitochondrial DNA sequences of primates: tempo and mode of evolution."
      Brown W.M., Prager E.M., Wang A., Wilson A.C.
      J. Mol. Evol. 18:225-239(1982) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 308-459.
    9. "Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase."
      Chomyn A., Mariottini P., Cleeter M.W.J., Ragan C.I., Matsuno-Yagi A., Hatefi Y., Doolittle R.F., Attardi G.
      Nature 314:592-597(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION OF PROTEIN.
    10. "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.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy."
      Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas L.J. II, Nikoskelainen E.K.
      Science 242:1427-1430(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHON HIS-340.
    13. "Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)."
      Majander A., Huoponen K., Savontaus M.-L., Nikoskelainen E., Wikstroem M.
      FEBS Lett. 292:289-292(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT LHON HIS-340.
    14. "Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy."
      Kormann B.A., Schuster H., Berninger T.A., Leo-Kottler B.
      Hum. Genet. 88:98-100(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHON HIS-340.
    15. "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base."
      Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E.
      Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PRO-79; PRO-109; THR-132 AND THR-294.
    16. "A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I."
      Lertrit P., Noer A.S., Jean-Francois M.J.B., Kapsa R., Dennett X., Thyagarajan D., Lethlean K., Byrne E., Marzuki S.
      Am. J. Hum. Genet. 51:457-468(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MELAS ALA-109.
    17. "Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia."
      de Vries D.D., Went L.N., Bruyn G.W., Scholte H.R., Hofstra R.M.W., Bolhuis P.A., van Oost B.A.
      Am. J. Hum. Genet. 58:703-711(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LDYT ILE-313.
    18. "Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations."
      Sudoyo H., Sitepu M., Malik S., Poesponegoro H.D., Marzuki S.
      Hum. Mutat. Suppl. 1:S271-S274(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHON HIS-340.
    19. Cited for: VARIANT ALA-420.

    Entry informationi

    Entry nameiNU4M_HUMAN
    AccessioniPrimary (citable) accession number: P03905
    Secondary accession number(s): Q6RL39, Q6RQN9, Q8HNR8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: July 21, 1986
    Last modified: October 1, 2014
    This is version 146 of the entry and version 1 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 entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    2. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

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