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P03905

- NU4M_HUMAN

UniProt

P03905 - NU4M_HUMAN

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Protein
NADH-ubiquinone oxidoreductase chain 4
Gene
MT-ND4, MTND4, NADH4, ND4
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.

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
Complete GO annotation...

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

Topology

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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. 4 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 4
PRO_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.

Family & Domainsi

Sequence similaritiesi

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

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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

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. 4 Publications
VAR_004760
Natural varianti420 – 4201T → A Detected in a patient with mitochondrial complex I deficiency; uncertain pathological significance. 1 Publication
VAR_064565

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti230 – 2301V → L1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 145 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

Dasty 3

Similar proteinsi