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P03886

- NU1M_HUMAN

UniProt

P03886 - NU1M_HUMAN

Protein

NADH-ubiquinone oxidoreductase chain 1

Gene

MT-ND1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (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
    2. protein binding Source: IntAct

    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 1 (EC:1.6.5.3)
    Alternative name(s):
    NADH dehydrogenase subunit 1
    Gene namesi
    Name:MT-ND1
    Synonyms:MTND1, NADH1, ND1
    Encoded oniMitochondrion
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Mitochondrion

    Organism-specific databases

    HGNCiHGNC:7455. MT-ND1.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301Y → H in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_004748
    Natural varianti52 – 521A → T in LHON; primary mutation; medium severity; some vision recovery; 80% reduction in rotenone-sensitive and ubiquinone-dependent electron transfer activity, whereas the proximal NADH dehydrogenase activity of the complex is unaffected. 2 Publications
    VAR_004751
    Natural varianti285 – 2851L → P in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_004753
    Natural varianti304 – 3041Y → H in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_004754
    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 varianti31 – 311M → T in MELAS. 1 Publication
    VAR_004749
    Alzheimer disease mitochondrial (AD-MT) [MIM:502500]: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.
    Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311M → V in AD-MT. 1 Publication
    VAR_004750
    Genetic variation in MT-ND1 might contribute ot the pathogenesis of non-insulin-dependent diabetes mellitus (NIDDM).

    Keywords - Diseasei

    Alzheimer disease, Amyloidosis, Diabetes mellitus, Disease mutation, Leber hereditary optic neuropathy, MELAS syndrome

    Organism-specific databases

    MIMi502500. phenotype.
    535000. phenotype.
    540000. phenotype.
    Orphaneti104. Leber hereditary optic neuropathy.
    255210. Maternally-inherited Leigh syndrome.
    550. MELAS syndrome.
    PharmGKBiPA31259.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 318318NADH-ubiquinone oxidoreductase chain 1PRO_0000117414Add
    BLAST

    Proteomic databases

    PaxDbiP03886.
    PeptideAtlasiP03886.
    PRIDEiP03886.

    Expressioni

    Gene expression databases

    BgeeiP03886.
    GenevestigatoriP03886.

    Organism-specific databases

    HPAiCAB033779.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NAMPTP434903EBI-1246156,EBI-2829310

    Protein-protein interaction databases

    BioGridi110631. 12 interactions.
    IntActiP03886. 5 interactions.
    MINTiMINT-5165406.

    Structurei

    3D structure databases

    ProteinModelPortaliP03886.
    SMRiP03886. Positions 1-310.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei2 – 2221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei68 – 8821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei146 – 16621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei171 – 19121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei231 – 25121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei253 – 27321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei294 – 31421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the complex I subunit 1 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1005.
    HOGENOMiHOG000228276.
    HOVERGENiHBG016682.
    InParanoidiP03886.
    KOiK03878.
    OMAiETIIPNT.
    OrthoDBiEOG77WWCV.
    PhylomeDBiP03886.
    TreeFamiTF352957.

    Family and domain databases

    HAMAPiMF_01350. NDH1_NuoH.
    InterProiIPR001694. NADH_UbQ_OxRdtase_su1/FPO.
    IPR018086. NADH_UbQ_OxRdtase_su1_CS.
    [Graphical view]
    PANTHERiPTHR11432. PTHR11432. 1 hit.
    PfamiPF00146. NADHdh. 1 hit.
    [Graphical view]
    PROSITEiPS00667. COMPLEX1_ND1_1. 1 hit.
    PS00668. COMPLEX1_ND1_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P03886-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPMANLLLLI VPILIAMAFL MLTERKILGY MQLRKGPNVV GPYGLLQPFA    50
    DAMKLFTKEP LKPATSTITL YITAPTLALT IALLLWTPLP MPNPLVNLNL 100
    GLLFILATSS LAVYSILWSG WASNSNYALI GALRAVAQTI SYEVTLAIIL 150
    LSTLLMSGSF NLSTLITTQE HLWLLLPSWP LAMMWFISTL AETNRTPFDL 200
    AEGESELVSG FNIEYAAGPF ALFFMAEYTN IIMMNTLTTT IFLGTTYDAL 250
    SPELYTTYFV TKTLLLTSLF LWIRTAYPRF RYDQLMHLLW KNFLPLTLAL 300
    LMWYVSMPIT ISSIPPQT 318
    Length:318
    Mass (Da):35,661
    Last modified:July 21, 1986 - v1
    Checksum:i2F771ACB95002591
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti287 – 2871H → R in ACI31490. (PubMed:19243582)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41A → T Might contribute to non-insulin dependent diabetes mellitus susceptibility in some populations. 1 Publication
    VAR_004747
    Natural varianti30 – 301Y → C in a patient with hypertrophic cardiomyopathy and profound hearing loss. 1 Publication
    VAR_065195
    Natural varianti30 – 301Y → H in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_004748
    Natural varianti31 – 311M → T in MELAS. 1 Publication
    VAR_004749
    Natural varianti31 – 311M → V in AD-MT. 1 Publication
    VAR_004750
    Natural varianti52 – 521A → T in LHON; primary mutation; medium severity; some vision recovery; 80% reduction in rotenone-sensitive and ubiquinone-dependent electron transfer activity, whereas the proximal NADH dehydrogenase activity of the complex is unaffected. 2 Publications
    VAR_004751
    Natural varianti87 – 871T → A.1 Publication
    VAR_011346
    Natural varianti168 – 1681T → A.1 Publication
    VAR_011347
    Natural varianti205 – 2051S → P.1 Publication
    VAR_008587
    Natural varianti255 – 2551Y → C.1 Publication
    VAR_008588
    Natural varianti277 – 2771Y → C.1 Publication
    VAR_004752
    Natural varianti285 – 2851L → P in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_004753
    Natural varianti288 – 2881L → P.1 Publication
    VAR_008589
    Natural varianti304 – 3041Y → H in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_004754

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    V00662 Genomic DNA. Translation: CAA24026.1.
    J01415 Genomic DNA. Translation: AAB58943.1.
    D38112 Genomic DNA. Translation: BAA07290.1.
    AY339402 Genomic DNA. Translation: AAP89036.1.
    AY339403 Genomic DNA. Translation: AAP89049.1.
    AY339404 Genomic DNA. Translation: AAP89062.1.
    AY339405 Genomic DNA. Translation: AAP89075.1.
    AY339406 Genomic DNA. Translation: AAP89088.1.
    AY339407 Genomic DNA. Translation: AAP89101.1.
    AY339408 Genomic DNA. Translation: AAP89114.1.
    AY339409 Genomic DNA. Translation: AAP89127.1.
    AY339410 Genomic DNA. Translation: AAP89140.1.
    AY339411 Genomic DNA. Translation: AAP89153.1.
    AY339412 Genomic DNA. Translation: AAP89166.1.
    AY339413 Genomic DNA. Translation: AAP89179.1.
    AY339414 Genomic DNA. Translation: AAP89192.1.
    AY339415 Genomic DNA. Translation: AAP89205.1.
    AY339416 Genomic DNA. Translation: AAP89218.1.
    AY339417 Genomic DNA. Translation: AAP89231.1.
    AY339418 Genomic DNA. Translation: AAP89244.1.
    AY339419 Genomic DNA. Translation: AAP89257.1.
    AY339420 Genomic DNA. Translation: AAP89270.1.
    AY339421 Genomic DNA. Translation: AAP89283.1.
    AY339422 Genomic DNA. Translation: AAP89296.1.
    AY339423 Genomic DNA. Translation: AAP89309.1.
    AY339424 Genomic DNA. Translation: AAP89322.1.
    AY339425 Genomic DNA. Translation: AAP89335.1.
    AY339426 Genomic DNA. Translation: AAP89348.1.
    AY339427 Genomic DNA. Translation: AAP89361.1.
    AY339428 Genomic DNA. Translation: AAP89374.1.
    AY339429 Genomic DNA. Translation: AAP89387.1.
    AY339430 Genomic DNA. Translation: AAP89400.1.
    AY339431 Genomic DNA. Translation: AAP89413.1.
    AY339432 Genomic DNA. Translation: AAP89426.1.
    AY339433 Genomic DNA. Translation: AAP89439.1.
    AY339434 Genomic DNA. Translation: AAP89452.1.
    AY339435 Genomic DNA. Translation: AAP89465.1.
    AY339436 Genomic DNA. Translation: AAP89478.1.
    AY339437 Genomic DNA. Translation: AAP89491.1.
    AY339438 Genomic DNA. Translation: AAP89504.1.
    AY339439 Genomic DNA. Translation: AAP89517.1.
    AY339440 Genomic DNA. Translation: AAP89530.1.
    AY339441 Genomic DNA. Translation: AAP89543.1.
    AY339442 Genomic DNA. Translation: AAP89556.1.
    AY339443 Genomic DNA. Translation: AAP89569.1.
    AY339444 Genomic DNA. Translation: AAP89582.1.
    AY339445 Genomic DNA. Translation: AAP89595.1.
    AY339446 Genomic DNA. Translation: AAP89608.1.
    AY339447 Genomic DNA. Translation: AAP89621.1.
    AY339448 Genomic DNA. Translation: AAP89634.1.
    AY339449 Genomic DNA. Translation: AAP89647.1.
    AY339450 Genomic DNA. Translation: AAP89660.1.
    AY339451 Genomic DNA. Translation: AAP89673.1.
    AY339452 Genomic DNA. Translation: AAP89686.1.
    AY339453 Genomic DNA. Translation: AAP89699.1.
    AY339454 Genomic DNA. Translation: AAP89712.1.
    AY339455 Genomic DNA. Translation: AAP89725.1.
    AY339456 Genomic DNA. Translation: AAP89738.1.
    AY339457 Genomic DNA. Translation: AAP89751.1.
    AY339458 Genomic DNA. Translation: AAP89764.1.
    AY339459 Genomic DNA. Translation: AAP89777.1.
    AY339498 Genomic DNA. Translation: AAP90284.1.
    AY339499 Genomic DNA. Translation: AAP90297.1.
    AY339500 Genomic DNA. Translation: AAP90310.1.
    AY339501 Genomic DNA. Translation: AAP90323.1.
    AY339502 Genomic DNA. Translation: AAP90336.1.
    AY339503 Genomic DNA. Translation: AAP90349.1.
    AY339504 Genomic DNA. Translation: AAP90362.1.
    AY339505 Genomic DNA. Translation: AAP90375.1.
    AY339506 Genomic DNA. Translation: AAP90388.1.
    AY339507 Genomic DNA. Translation: AAP90401.1.
    AY339508 Genomic DNA. Translation: AAP90414.1.
    AY339509 Genomic DNA. Translation: AAP90427.1.
    AY339510 Genomic DNA. Translation: AAP90440.1.
    AY339511 Genomic DNA. Translation: AAP90453.1.
    AY339512 Genomic DNA. Translation: AAP90466.1.
    AY339513 Genomic DNA. Translation: AAP90479.1.
    AY339514 Genomic DNA. Translation: AAP90492.1.
    AY339515 Genomic DNA. Translation: AAP90505.1.
    AY339516 Genomic DNA. Translation: AAP90518.1.
    AY339517 Genomic DNA. Translation: AAP90531.1.
    AY339518 Genomic DNA. Translation: AAP90544.1.
    AY339519 Genomic DNA. Translation: AAP90557.1.
    AY339520 Genomic DNA. Translation: AAP90570.1.
    AY339521 Genomic DNA. Translation: AAP90583.1.
    AY339522 Genomic DNA. Translation: AAP90596.1.
    AY339523 Genomic DNA. Translation: AAP90609.1.
    AY339524 Genomic DNA. Translation: AAP90622.1.
    AY339525 Genomic DNA. Translation: AAP90635.1.
    AY339526 Genomic DNA. Translation: AAP90648.1.
    AY339527 Genomic DNA. Translation: AAP90661.1.
    AY339528 Genomic DNA. Translation: AAP90674.1.
    AY339529 Genomic DNA. Translation: AAP90687.1.
    AY339530 Genomic DNA. Translation: AAP90700.1.
    AY339531 Genomic DNA. Translation: AAP90713.1.
    AY339532 Genomic DNA. Translation: AAP90726.1.
    AY339533 Genomic DNA. Translation: AAP90739.1.
    AY339534 Genomic DNA. Translation: AAP90752.1.
    AY339535 Genomic DNA. Translation: AAP90765.1.
    AY339536 Genomic DNA. Translation: AAP90778.1.
    AY339537 Genomic DNA. Translation: AAP90791.1.
    AY339538 Genomic DNA. Translation: AAP90804.1.
    AY339539 Genomic DNA. Translation: AAP90817.1.
    AY339540 Genomic DNA. Translation: AAP90830.1.
    AY339541 Genomic DNA. Translation: AAP90843.1.
    AY339542 Genomic DNA. Translation: AAP90856.1.
    AY339543 Genomic DNA. Translation: AAP90869.1.
    AY339544 Genomic DNA. Translation: AAP90882.1.
    AY339546 Genomic DNA. Translation: AAP90908.1.
    AY339547 Genomic DNA. Translation: AAP90921.1.
    AY339548 Genomic DNA. Translation: AAP90934.1.
    AY339549 Genomic DNA. Translation: AAP90947.1.
    AY339550 Genomic DNA. Translation: AAP90960.1.
    AY339551 Genomic DNA. Translation: AAP90973.1.
    AY339552 Genomic DNA. Translation: AAP90986.1.
    AY339553 Genomic DNA. Translation: AAP90999.1.
    AY339554 Genomic DNA. Translation: AAP91012.1.
    AY339555 Genomic DNA. Translation: AAP91025.1.
    AY339556 Genomic DNA. Translation: AAP91038.1.
    AY339557 Genomic DNA. Translation: AAP91051.1.
    AY339558 Genomic DNA. Translation: AAP91064.1.
    AY339559 Genomic DNA. Translation: AAP91077.1.
    AY339560 Genomic DNA. Translation: AAP91090.1.
    AY339561 Genomic DNA. Translation: AAP91103.1.
    AY339562 Genomic DNA. Translation: AAP91116.1.
    AY339563 Genomic DNA. Translation: AAP91129.1.
    AY339564 Genomic DNA. Translation: AAP91142.1.
    AY339565 Genomic DNA. Translation: AAP91155.1.
    AF346963 Genomic DNA. Translation: AAK17207.1.
    AF346964 Genomic DNA. Translation: AAK17220.1.
    AF346965 Genomic DNA. Translation: AAK17233.1.
    AF346966 Genomic DNA. Translation: AAK17246.1.
    AF346967 Genomic DNA. Translation: AAK17259.1.
    AF346970 Genomic DNA. Translation: AAK17298.1.
    AF346971 Genomic DNA. Translation: AAK17311.1.
    AF346974 Genomic DNA. Translation: AAK17350.1.
    AF346975 Genomic DNA. Translation: AAK17363.1.
    AF346976 Genomic DNA. Translation: AAK17376.1.
    AF346977 Genomic DNA. Translation: AAK17389.1.
    AF346978 Genomic DNA. Translation: AAK17402.1.
    AF346979 Genomic DNA. Translation: AAK17415.1.
    AF346980 Genomic DNA. Translation: AAK17428.1.
    AF346981 Genomic DNA. Translation: AAK17441.1.
    AF346984 Genomic DNA. Translation: AAK17480.1.
    AF346988 Genomic DNA. Translation: AAK17532.1.
    AF346989 Genomic DNA. Translation: AAK17545.1.
    AF346990 Genomic DNA. Translation: AAK17558.1.
    AF346991 Genomic DNA. Translation: AAK17571.1.
    AF346992 Genomic DNA. Translation: AAK17584.1.
    AF346993 Genomic DNA. Translation: AAK17597.1.
    AF346994 Genomic DNA. Translation: AAK17610.1.
    AF346995 Genomic DNA. Translation: AAK17623.1.
    AF346998 Genomic DNA. Translation: AAK17662.1.
    AF346999 Genomic DNA. Translation: AAK17675.1.
    AF347000 Genomic DNA. Translation: AAK17688.1.
    AF347002 Genomic DNA. Translation: AAK17714.1.
    AF347003 Genomic DNA. Translation: AAK17727.1.
    AF347004 Genomic DNA. Translation: AAK17740.1.
    AF347005 Genomic DNA. Translation: AAK17753.1.
    AF347006 Genomic DNA. Translation: AAK17766.1.
    AF347007 Genomic DNA. Translation: AAK17779.1.
    AF347008 Genomic DNA. Translation: AAK17792.1.
    AF347009 Genomic DNA. Translation: AAK17805.1.
    AF347011 Genomic DNA. Translation: AAK17831.1.
    AF347012 Genomic DNA. Translation: AAK17844.1.
    AF347013 Genomic DNA. Translation: AAK17857.1.
    AF347015 Genomic DNA. Translation: AAK17883.1.
    AY289051 Genomic DNA. Translation: AAP47880.1.
    AY289052 Genomic DNA. Translation: AAP47893.1.
    AY289053 Genomic DNA. Translation: AAP47906.1.
    AY289054 Genomic DNA. Translation: AAP47919.1.
    AY289055 Genomic DNA. Translation: AAP47932.1.
    AY289056 Genomic DNA. Translation: AAP47945.1.
    AY289057 Genomic DNA. Translation: AAP47958.1.
    AY289058 Genomic DNA. Translation: AAP47971.1.
    AY289059 Genomic DNA. Translation: AAP47984.1.
    AY289063 Genomic DNA. Translation: AAP48036.1.
    AY289064 Genomic DNA. Translation: AAP48049.1.
    AY289065 Genomic DNA. Translation: AAP48062.1.
    AY289066 Genomic DNA. Translation: AAP48075.1.
    AY289067 Genomic DNA. Translation: AAP48088.1.
    AY289068 Genomic DNA. Translation: AAP48101.1.
    AY289069 Genomic DNA. Translation: AAP48114.1.
    AY289070 Genomic DNA. Translation: AAP48127.1.
    AY289071 Genomic DNA. Translation: AAP48140.1.
    AY289072 Genomic DNA. Translation: AAP48153.1.
    AY289073 Genomic DNA. Translation: AAP48166.1.
    AY289074 Genomic DNA. Translation: AAP48179.1.
    AY289075 Genomic DNA. Translation: AAP48192.1.
    AY289076 Genomic DNA. Translation: AAP48205.1.
    AY289077 Genomic DNA. Translation: AAP48218.1.
    AY289078 Genomic DNA. Translation: AAP48231.1.
    AY289079 Genomic DNA. Translation: AAP48244.1.
    AY289080 Genomic DNA. Translation: AAP48257.1.
    AY289083 Genomic DNA. Translation: AAP48296.1.
    AY289084 Genomic DNA. Translation: AAP48309.1.
    AY289085 Genomic DNA. Translation: AAP48322.1.
    AY289086 Genomic DNA. Translation: AAP48335.1.
    AY289087 Genomic DNA. Translation: AAP48348.1.
    AY289088 Genomic DNA. Translation: AAP48361.1.
    AY289089 Genomic DNA. Translation: AAP48374.1.
    AY289090 Genomic DNA. Translation: AAP48387.1.
    AY289091 Genomic DNA. Translation: AAP48400.1.
    AY289092 Genomic DNA. Translation: AAP48413.1.
    AY289094 Genomic DNA. Translation: AAP48438.1.
    AY289095 Genomic DNA. Translation: AAP48451.1.
    AY289096 Genomic DNA. Translation: AAP48464.1.
    AY289099 Genomic DNA. Translation: AAP48503.1.
    AY289100 Genomic DNA. Translation: AAP48516.1.
    AY289101 Genomic DNA. Translation: AAP48529.1.
    AY289102 Genomic DNA. Translation: AAP48542.1.
    AY495090 Genomic DNA. Translation: AAR92496.1.
    AY495091 Genomic DNA. Translation: AAR92509.1.
    AY495092 Genomic DNA. Translation: AAR92522.1.
    AY495093 Genomic DNA. Translation: AAR92535.1.
    AY495094 Genomic DNA. Translation: AAR92548.1.
    AY495096 Genomic DNA. Translation: AAR92574.1.
    AY495097 Genomic DNA. Translation: AAR92587.1.
    AY495098 Genomic DNA. Translation: AAR92600.1.
    AY495099 Genomic DNA. Translation: AAR92613.1.
    AY495100 Genomic DNA. Translation: AAR92626.1.
    AY495102 Genomic DNA. Translation: AAR92652.1.
    AY495103 Genomic DNA. Translation: AAR92665.1.
    AY495104 Genomic DNA. Translation: AAR92678.1.
    AY495105 Genomic DNA. Translation: AAR92691.1.
    AY495106 Genomic DNA. Translation: AAR92704.1.
    AY495107 Genomic DNA. Translation: AAR92717.1.
    AY495108 Genomic DNA. Translation: AAR92730.1.
    AY495109 Genomic DNA. Translation: AAR92743.1.
    AY495110 Genomic DNA. Translation: AAR92756.1.
    AY495112 Genomic DNA. Translation: AAR92782.1.
    AY495113 Genomic DNA. Translation: AAR92795.1.
    AY495114 Genomic DNA. Translation: AAR92808.1.
    AY495115 Genomic DNA. Translation: AAR92821.1.
    AY495117 Genomic DNA. Translation: AAR92847.1.
    AY495118 Genomic DNA. Translation: AAR92860.1.
    AY495119 Genomic DNA. Translation: AAR92873.1.
    AY495120 Genomic DNA. Translation: AAR92886.1.
    AY495121 Genomic DNA. Translation: AAR92899.1.
    AY495122 Genomic DNA. Translation: AAR92912.1.
    AY495124 Genomic DNA. Translation: AAR92938.1.
    AY495126 Genomic DNA. Translation: AAR92964.1.
    AY495127 Genomic DNA. Translation: AAR92977.1.
    AY495128 Genomic DNA. Translation: AAR92990.1.
    AY495129 Genomic DNA. Translation: AAR93003.1.
    AY495130 Genomic DNA. Translation: AAR93016.1.
    AY495132 Genomic DNA. Translation: AAR93042.1.
    AY495133 Genomic DNA. Translation: AAR93055.1.
    AY495135 Genomic DNA. Translation: AAR93081.1.
    AY495136 Genomic DNA. Translation: AAR93094.1.
    AY495137 Genomic DNA. Translation: AAR93107.1.
    AY495138 Genomic DNA. Translation: AAR93120.1.
    AY495139 Genomic DNA. Translation: AAR93133.1.
    AY495140 Genomic DNA. Translation: AAR93146.1.
    AY495141 Genomic DNA. Translation: AAR93159.1.
    AY495142 Genomic DNA. Translation: AAR93172.1.
    AY495143 Genomic DNA. Translation: AAR93185.1.
    AY495144 Genomic DNA. Translation: AAR93198.1.
    AY495145 Genomic DNA. Translation: AAR93211.1.
    AY495146 Genomic DNA. Translation: AAR93224.1.
    AY495147 Genomic DNA. Translation: AAR93237.1.
    AY495148 Genomic DNA. Translation: AAR93250.1.
    AY495149 Genomic DNA. Translation: AAR93263.1.
    AY495150 Genomic DNA. Translation: AAR93276.1.
    AY495151 Genomic DNA. Translation: AAR93289.1.
    AY495152 Genomic DNA. Translation: AAR93302.1.
    AY495153 Genomic DNA. Translation: AAR93315.1.
    AY495154 Genomic DNA. Translation: AAR93328.1.
    AY495155 Genomic DNA. Translation: AAR93341.1.
    AY495156 Genomic DNA. Translation: AAR93354.1.
    AY495157 Genomic DNA. Translation: AAR93367.1.
    AY495158 Genomic DNA. Translation: AAR93380.1.
    AY495159 Genomic DNA. Translation: AAR93393.1.
    AY495160 Genomic DNA. Translation: AAR93406.1.
    AY495161 Genomic DNA. Translation: AAR93419.1.
    AY495162 Genomic DNA. Translation: AAR93432.1.
    AY495163 Genomic DNA. Translation: AAR93445.1.
    AY495164 Genomic DNA. Translation: AAR93458.1.
    AY495165 Genomic DNA. Translation: AAR93471.1.
    AY495166 Genomic DNA. Translation: AAR93484.1.
    AY495167 Genomic DNA. Translation: AAR93497.1.
    AY495168 Genomic DNA. Translation: AAR93510.1.
    AY495169 Genomic DNA. Translation: AAR93523.1.
    AY495170 Genomic DNA. Translation: AAR93536.1.
    AY495171 Genomic DNA. Translation: AAR93549.1.
    AY495172 Genomic DNA. Translation: AAR93562.1.
    AY495173 Genomic DNA. Translation: AAR93575.1.
    AY495174 Genomic DNA. Translation: AAR93588.1.
    AY495175 Genomic DNA. Translation: AAR93601.1.
    AY495176 Genomic DNA. Translation: AAR93614.1.
    AY495177 Genomic DNA. Translation: AAR93627.1.
    AY495180 Genomic DNA. Translation: AAR93666.1.
    AY495185 Genomic DNA. Translation: AAR93731.1.
    AY495187 Genomic DNA. Translation: AAR93757.1.
    AY495188 Genomic DNA. Translation: AAR93770.1.
    AY495189 Genomic DNA. Translation: AAR93783.1.
    AY495190 Genomic DNA. Translation: AAR93796.1.
    AY495191 Genomic DNA. Translation: AAR93809.1.
    AY495192 Genomic DNA. Translation: AAR93822.1.
    AY495193 Genomic DNA. Translation: AAR93835.1.
    AY495194 Genomic DNA. Translation: AAR93848.1.
    AY495239 Genomic DNA. Translation: AAR94433.1.
    AY495240 Genomic DNA. Translation: AAR94446.1.
    AY495241 Genomic DNA. Translation: AAR94459.1.
    AY495242 Genomic DNA. Translation: AAR94472.1.
    AY495243 Genomic DNA. Translation: AAR94485.1.
    AY495244 Genomic DNA. Translation: AAR94498.1.
    AY495245 Genomic DNA. Translation: AAR94511.1.
    AY495246 Genomic DNA. Translation: AAR94524.1.
    AY495247 Genomic DNA. Translation: AAR94537.1.
    AY495248 Genomic DNA. Translation: AAR94550.1.
    AY495249 Genomic DNA. Translation: AAR94563.1.
    AY495250 Genomic DNA. Translation: AAR94576.1.
    AY495251 Genomic DNA. Translation: AAR94589.1.
    AY495252 Genomic DNA. Translation: AAR94602.1.
    AY495253 Genomic DNA. Translation: AAR94615.1.
    AY495254 Genomic DNA. Translation: AAR94628.1.
    AY495255 Genomic DNA. Translation: AAR94641.1.
    AY495257 Genomic DNA. Translation: AAR94667.1.
    AY495258 Genomic DNA. Translation: AAR94680.1.
    AY495259 Genomic DNA. Translation: AAR94693.1.
    AY495260 Genomic DNA. Translation: AAR94706.1.
    AY495261 Genomic DNA. Translation: AAR94719.1.
    AY495262 Genomic DNA. Translation: AAR94732.1.
    AY495263 Genomic DNA. Translation: AAR94745.1.
    AY495264 Genomic DNA. Translation: AAR94758.1.
    AY495265 Genomic DNA. Translation: AAR94771.1.
    AY495306 Genomic DNA. Translation: AAR95304.1.
    AY495307 Genomic DNA. Translation: AAR95317.1.
    AY495308 Genomic DNA. Translation: AAR95330.1.
    AY495309 Genomic DNA. Translation: AAR95343.1.
    AY495310 Genomic DNA. Translation: AAR95356.1.
    AY495311 Genomic DNA. Translation: AAR95369.1.
    AY495312 Genomic DNA. Translation: AAR95382.1.
    AY495313 Genomic DNA. Translation: AAR95395.1.
    AY495314 Genomic DNA. Translation: AAR95408.1.
    AY495315 Genomic DNA. Translation: AAR95421.1.
    AY495316 Genomic DNA. Translation: AAR95434.1.
    AY495317 Genomic DNA. Translation: AAR95447.1.
    AY495318 Genomic DNA. Translation: AAR95460.1.
    AY495319 Genomic DNA. Translation: AAR95473.1.
    AY495320 Genomic DNA. Translation: AAR95486.1.
    AY495321 Genomic DNA. Translation: AAR95499.1.
    AY495322 Genomic DNA. Translation: AAR95512.1.
    AY495323 Genomic DNA. Translation: AAR95525.1.
    AY495324 Genomic DNA. Translation: AAR95538.1.
    AY495325 Genomic DNA. Translation: AAR95551.1.
    AY495326 Genomic DNA. Translation: AAR95564.1.
    AY495327 Genomic DNA. Translation: AAR95577.1.
    AY495328 Genomic DNA. Translation: AAR95590.1.
    AY495329 Genomic DNA. Translation: AAR95603.1.
    AY495330 Genomic DNA. Translation: AAR95616.1.
    AY495256 Genomic DNA. Translation: AAR94654.1.
    FJ236980 Genomic DNA. Translation: ACI31490.1.
    M10546 Genomic DNA. Translation: AAA65501.1.
    PIRiA00407. DNHUN1.
    RefSeqiYP_003024026.1. NC_012920.1.

    Genome annotation databases

    EnsembliENST00000361390; ENSP00000354687; ENSG00000198888.
    GeneIDi4535.
    KEGGihsa:4535.

    Polymorphism databases

    DMDMi128641.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    V00662 Genomic DNA. Translation: CAA24026.1 .
    J01415 Genomic DNA. Translation: AAB58943.1 .
    D38112 Genomic DNA. Translation: BAA07290.1 .
    AY339402 Genomic DNA. Translation: AAP89036.1 .
    AY339403 Genomic DNA. Translation: AAP89049.1 .
    AY339404 Genomic DNA. Translation: AAP89062.1 .
    AY339405 Genomic DNA. Translation: AAP89075.1 .
    AY339406 Genomic DNA. Translation: AAP89088.1 .
    AY339407 Genomic DNA. Translation: AAP89101.1 .
    AY339408 Genomic DNA. Translation: AAP89114.1 .
    AY339409 Genomic DNA. Translation: AAP89127.1 .
    AY339410 Genomic DNA. Translation: AAP89140.1 .
    AY339411 Genomic DNA. Translation: AAP89153.1 .
    AY339412 Genomic DNA. Translation: AAP89166.1 .
    AY339413 Genomic DNA. Translation: AAP89179.1 .
    AY339414 Genomic DNA. Translation: AAP89192.1 .
    AY339415 Genomic DNA. Translation: AAP89205.1 .
    AY339416 Genomic DNA. Translation: AAP89218.1 .
    AY339417 Genomic DNA. Translation: AAP89231.1 .
    AY339418 Genomic DNA. Translation: AAP89244.1 .
    AY339419 Genomic DNA. Translation: AAP89257.1 .
    AY339420 Genomic DNA. Translation: AAP89270.1 .
    AY339421 Genomic DNA. Translation: AAP89283.1 .
    AY339422 Genomic DNA. Translation: AAP89296.1 .
    AY339423 Genomic DNA. Translation: AAP89309.1 .
    AY339424 Genomic DNA. Translation: AAP89322.1 .
    AY339425 Genomic DNA. Translation: AAP89335.1 .
    AY339426 Genomic DNA. Translation: AAP89348.1 .
    AY339427 Genomic DNA. Translation: AAP89361.1 .
    AY339428 Genomic DNA. Translation: AAP89374.1 .
    AY339429 Genomic DNA. Translation: AAP89387.1 .
    AY339430 Genomic DNA. Translation: AAP89400.1 .
    AY339431 Genomic DNA. Translation: AAP89413.1 .
    AY339432 Genomic DNA. Translation: AAP89426.1 .
    AY339433 Genomic DNA. Translation: AAP89439.1 .
    AY339434 Genomic DNA. Translation: AAP89452.1 .
    AY339435 Genomic DNA. Translation: AAP89465.1 .
    AY339436 Genomic DNA. Translation: AAP89478.1 .
    AY339437 Genomic DNA. Translation: AAP89491.1 .
    AY339438 Genomic DNA. Translation: AAP89504.1 .
    AY339439 Genomic DNA. Translation: AAP89517.1 .
    AY339440 Genomic DNA. Translation: AAP89530.1 .
    AY339441 Genomic DNA. Translation: AAP89543.1 .
    AY339442 Genomic DNA. Translation: AAP89556.1 .
    AY339443 Genomic DNA. Translation: AAP89569.1 .
    AY339444 Genomic DNA. Translation: AAP89582.1 .
    AY339445 Genomic DNA. Translation: AAP89595.1 .
    AY339446 Genomic DNA. Translation: AAP89608.1 .
    AY339447 Genomic DNA. Translation: AAP89621.1 .
    AY339448 Genomic DNA. Translation: AAP89634.1 .
    AY339449 Genomic DNA. Translation: AAP89647.1 .
    AY339450 Genomic DNA. Translation: AAP89660.1 .
    AY339451 Genomic DNA. Translation: AAP89673.1 .
    AY339452 Genomic DNA. Translation: AAP89686.1 .
    AY339453 Genomic DNA. Translation: AAP89699.1 .
    AY339454 Genomic DNA. Translation: AAP89712.1 .
    AY339455 Genomic DNA. Translation: AAP89725.1 .
    AY339456 Genomic DNA. Translation: AAP89738.1 .
    AY339457 Genomic DNA. Translation: AAP89751.1 .
    AY339458 Genomic DNA. Translation: AAP89764.1 .
    AY339459 Genomic DNA. Translation: AAP89777.1 .
    AY339498 Genomic DNA. Translation: AAP90284.1 .
    AY339499 Genomic DNA. Translation: AAP90297.1 .
    AY339500 Genomic DNA. Translation: AAP90310.1 .
    AY339501 Genomic DNA. Translation: AAP90323.1 .
    AY339502 Genomic DNA. Translation: AAP90336.1 .
    AY339503 Genomic DNA. Translation: AAP90349.1 .
    AY339504 Genomic DNA. Translation: AAP90362.1 .
    AY339505 Genomic DNA. Translation: AAP90375.1 .
    AY339506 Genomic DNA. Translation: AAP90388.1 .
    AY339507 Genomic DNA. Translation: AAP90401.1 .
    AY339508 Genomic DNA. Translation: AAP90414.1 .
    AY339509 Genomic DNA. Translation: AAP90427.1 .
    AY339510 Genomic DNA. Translation: AAP90440.1 .
    AY339511 Genomic DNA. Translation: AAP90453.1 .
    AY339512 Genomic DNA. Translation: AAP90466.1 .
    AY339513 Genomic DNA. Translation: AAP90479.1 .
    AY339514 Genomic DNA. Translation: AAP90492.1 .
    AY339515 Genomic DNA. Translation: AAP90505.1 .
    AY339516 Genomic DNA. Translation: AAP90518.1 .
    AY339517 Genomic DNA. Translation: AAP90531.1 .
    AY339518 Genomic DNA. Translation: AAP90544.1 .
    AY339519 Genomic DNA. Translation: AAP90557.1 .
    AY339520 Genomic DNA. Translation: AAP90570.1 .
    AY339521 Genomic DNA. Translation: AAP90583.1 .
    AY339522 Genomic DNA. Translation: AAP90596.1 .
    AY339523 Genomic DNA. Translation: AAP90609.1 .
    AY339524 Genomic DNA. Translation: AAP90622.1 .
    AY339525 Genomic DNA. Translation: AAP90635.1 .
    AY339526 Genomic DNA. Translation: AAP90648.1 .
    AY339527 Genomic DNA. Translation: AAP90661.1 .
    AY339528 Genomic DNA. Translation: AAP90674.1 .
    AY339529 Genomic DNA. Translation: AAP90687.1 .
    AY339530 Genomic DNA. Translation: AAP90700.1 .
    AY339531 Genomic DNA. Translation: AAP90713.1 .
    AY339532 Genomic DNA. Translation: AAP90726.1 .
    AY339533 Genomic DNA. Translation: AAP90739.1 .
    AY339534 Genomic DNA. Translation: AAP90752.1 .
    AY339535 Genomic DNA. Translation: AAP90765.1 .
    AY339536 Genomic DNA. Translation: AAP90778.1 .
    AY339537 Genomic DNA. Translation: AAP90791.1 .
    AY339538 Genomic DNA. Translation: AAP90804.1 .
    AY339539 Genomic DNA. Translation: AAP90817.1 .
    AY339540 Genomic DNA. Translation: AAP90830.1 .
    AY339541 Genomic DNA. Translation: AAP90843.1 .
    AY339542 Genomic DNA. Translation: AAP90856.1 .
    AY339543 Genomic DNA. Translation: AAP90869.1 .
    AY339544 Genomic DNA. Translation: AAP90882.1 .
    AY339546 Genomic DNA. Translation: AAP90908.1 .
    AY339547 Genomic DNA. Translation: AAP90921.1 .
    AY339548 Genomic DNA. Translation: AAP90934.1 .
    AY339549 Genomic DNA. Translation: AAP90947.1 .
    AY339550 Genomic DNA. Translation: AAP90960.1 .
    AY339551 Genomic DNA. Translation: AAP90973.1 .
    AY339552 Genomic DNA. Translation: AAP90986.1 .
    AY339553 Genomic DNA. Translation: AAP90999.1 .
    AY339554 Genomic DNA. Translation: AAP91012.1 .
    AY339555 Genomic DNA. Translation: AAP91025.1 .
    AY339556 Genomic DNA. Translation: AAP91038.1 .
    AY339557 Genomic DNA. Translation: AAP91051.1 .
    AY339558 Genomic DNA. Translation: AAP91064.1 .
    AY339559 Genomic DNA. Translation: AAP91077.1 .
    AY339560 Genomic DNA. Translation: AAP91090.1 .
    AY339561 Genomic DNA. Translation: AAP91103.1 .
    AY339562 Genomic DNA. Translation: AAP91116.1 .
    AY339563 Genomic DNA. Translation: AAP91129.1 .
    AY339564 Genomic DNA. Translation: AAP91142.1 .
    AY339565 Genomic DNA. Translation: AAP91155.1 .
    AF346963 Genomic DNA. Translation: AAK17207.1 .
    AF346964 Genomic DNA. Translation: AAK17220.1 .
    AF346965 Genomic DNA. Translation: AAK17233.1 .
    AF346966 Genomic DNA. Translation: AAK17246.1 .
    AF346967 Genomic DNA. Translation: AAK17259.1 .
    AF346970 Genomic DNA. Translation: AAK17298.1 .
    AF346971 Genomic DNA. Translation: AAK17311.1 .
    AF346974 Genomic DNA. Translation: AAK17350.1 .
    AF346975 Genomic DNA. Translation: AAK17363.1 .
    AF346976 Genomic DNA. Translation: AAK17376.1 .
    AF346977 Genomic DNA. Translation: AAK17389.1 .
    AF346978 Genomic DNA. Translation: AAK17402.1 .
    AF346979 Genomic DNA. Translation: AAK17415.1 .
    AF346980 Genomic DNA. Translation: AAK17428.1 .
    AF346981 Genomic DNA. Translation: AAK17441.1 .
    AF346984 Genomic DNA. Translation: AAK17480.1 .
    AF346988 Genomic DNA. Translation: AAK17532.1 .
    AF346989 Genomic DNA. Translation: AAK17545.1 .
    AF346990 Genomic DNA. Translation: AAK17558.1 .
    AF346991 Genomic DNA. Translation: AAK17571.1 .
    AF346992 Genomic DNA. Translation: AAK17584.1 .
    AF346993 Genomic DNA. Translation: AAK17597.1 .
    AF346994 Genomic DNA. Translation: AAK17610.1 .
    AF346995 Genomic DNA. Translation: AAK17623.1 .
    AF346998 Genomic DNA. Translation: AAK17662.1 .
    AF346999 Genomic DNA. Translation: AAK17675.1 .
    AF347000 Genomic DNA. Translation: AAK17688.1 .
    AF347002 Genomic DNA. Translation: AAK17714.1 .
    AF347003 Genomic DNA. Translation: AAK17727.1 .
    AF347004 Genomic DNA. Translation: AAK17740.1 .
    AF347005 Genomic DNA. Translation: AAK17753.1 .
    AF347006 Genomic DNA. Translation: AAK17766.1 .
    AF347007 Genomic DNA. Translation: AAK17779.1 .
    AF347008 Genomic DNA. Translation: AAK17792.1 .
    AF347009 Genomic DNA. Translation: AAK17805.1 .
    AF347011 Genomic DNA. Translation: AAK17831.1 .
    AF347012 Genomic DNA. Translation: AAK17844.1 .
    AF347013 Genomic DNA. Translation: AAK17857.1 .
    AF347015 Genomic DNA. Translation: AAK17883.1 .
    AY289051 Genomic DNA. Translation: AAP47880.1 .
    AY289052 Genomic DNA. Translation: AAP47893.1 .
    AY289053 Genomic DNA. Translation: AAP47906.1 .
    AY289054 Genomic DNA. Translation: AAP47919.1 .
    AY289055 Genomic DNA. Translation: AAP47932.1 .
    AY289056 Genomic DNA. Translation: AAP47945.1 .
    AY289057 Genomic DNA. Translation: AAP47958.1 .
    AY289058 Genomic DNA. Translation: AAP47971.1 .
    AY289059 Genomic DNA. Translation: AAP47984.1 .
    AY289063 Genomic DNA. Translation: AAP48036.1 .
    AY289064 Genomic DNA. Translation: AAP48049.1 .
    AY289065 Genomic DNA. Translation: AAP48062.1 .
    AY289066 Genomic DNA. Translation: AAP48075.1 .
    AY289067 Genomic DNA. Translation: AAP48088.1 .
    AY289068 Genomic DNA. Translation: AAP48101.1 .
    AY289069 Genomic DNA. Translation: AAP48114.1 .
    AY289070 Genomic DNA. Translation: AAP48127.1 .
    AY289071 Genomic DNA. Translation: AAP48140.1 .
    AY289072 Genomic DNA. Translation: AAP48153.1 .
    AY289073 Genomic DNA. Translation: AAP48166.1 .
    AY289074 Genomic DNA. Translation: AAP48179.1 .
    AY289075 Genomic DNA. Translation: AAP48192.1 .
    AY289076 Genomic DNA. Translation: AAP48205.1 .
    AY289077 Genomic DNA. Translation: AAP48218.1 .
    AY289078 Genomic DNA. Translation: AAP48231.1 .
    AY289079 Genomic DNA. Translation: AAP48244.1 .
    AY289080 Genomic DNA. Translation: AAP48257.1 .
    AY289083 Genomic DNA. Translation: AAP48296.1 .
    AY289084 Genomic DNA. Translation: AAP48309.1 .
    AY289085 Genomic DNA. Translation: AAP48322.1 .
    AY289086 Genomic DNA. Translation: AAP48335.1 .
    AY289087 Genomic DNA. Translation: AAP48348.1 .
    AY289088 Genomic DNA. Translation: AAP48361.1 .
    AY289089 Genomic DNA. Translation: AAP48374.1 .
    AY289090 Genomic DNA. Translation: AAP48387.1 .
    AY289091 Genomic DNA. Translation: AAP48400.1 .
    AY289092 Genomic DNA. Translation: AAP48413.1 .
    AY289094 Genomic DNA. Translation: AAP48438.1 .
    AY289095 Genomic DNA. Translation: AAP48451.1 .
    AY289096 Genomic DNA. Translation: AAP48464.1 .
    AY289099 Genomic DNA. Translation: AAP48503.1 .
    AY289100 Genomic DNA. Translation: AAP48516.1 .
    AY289101 Genomic DNA. Translation: AAP48529.1 .
    AY289102 Genomic DNA. Translation: AAP48542.1 .
    AY495090 Genomic DNA. Translation: AAR92496.1 .
    AY495091 Genomic DNA. Translation: AAR92509.1 .
    AY495092 Genomic DNA. Translation: AAR92522.1 .
    AY495093 Genomic DNA. Translation: AAR92535.1 .
    AY495094 Genomic DNA. Translation: AAR92548.1 .
    AY495096 Genomic DNA. Translation: AAR92574.1 .
    AY495097 Genomic DNA. Translation: AAR92587.1 .
    AY495098 Genomic DNA. Translation: AAR92600.1 .
    AY495099 Genomic DNA. Translation: AAR92613.1 .
    AY495100 Genomic DNA. Translation: AAR92626.1 .
    AY495102 Genomic DNA. Translation: AAR92652.1 .
    AY495103 Genomic DNA. Translation: AAR92665.1 .
    AY495104 Genomic DNA. Translation: AAR92678.1 .
    AY495105 Genomic DNA. Translation: AAR92691.1 .
    AY495106 Genomic DNA. Translation: AAR92704.1 .
    AY495107 Genomic DNA. Translation: AAR92717.1 .
    AY495108 Genomic DNA. Translation: AAR92730.1 .
    AY495109 Genomic DNA. Translation: AAR92743.1 .
    AY495110 Genomic DNA. Translation: AAR92756.1 .
    AY495112 Genomic DNA. Translation: AAR92782.1 .
    AY495113 Genomic DNA. Translation: AAR92795.1 .
    AY495114 Genomic DNA. Translation: AAR92808.1 .
    AY495115 Genomic DNA. Translation: AAR92821.1 .
    AY495117 Genomic DNA. Translation: AAR92847.1 .
    AY495118 Genomic DNA. Translation: AAR92860.1 .
    AY495119 Genomic DNA. Translation: AAR92873.1 .
    AY495120 Genomic DNA. Translation: AAR92886.1 .
    AY495121 Genomic DNA. Translation: AAR92899.1 .
    AY495122 Genomic DNA. Translation: AAR92912.1 .
    AY495124 Genomic DNA. Translation: AAR92938.1 .
    AY495126 Genomic DNA. Translation: AAR92964.1 .
    AY495127 Genomic DNA. Translation: AAR92977.1 .
    AY495128 Genomic DNA. Translation: AAR92990.1 .
    AY495129 Genomic DNA. Translation: AAR93003.1 .
    AY495130 Genomic DNA. Translation: AAR93016.1 .
    AY495132 Genomic DNA. Translation: AAR93042.1 .
    AY495133 Genomic DNA. Translation: AAR93055.1 .
    AY495135 Genomic DNA. Translation: AAR93081.1 .
    AY495136 Genomic DNA. Translation: AAR93094.1 .
    AY495137 Genomic DNA. Translation: AAR93107.1 .
    AY495138 Genomic DNA. Translation: AAR93120.1 .
    AY495139 Genomic DNA. Translation: AAR93133.1 .
    AY495140 Genomic DNA. Translation: AAR93146.1 .
    AY495141 Genomic DNA. Translation: AAR93159.1 .
    AY495142 Genomic DNA. Translation: AAR93172.1 .
    AY495143 Genomic DNA. Translation: AAR93185.1 .
    AY495144 Genomic DNA. Translation: AAR93198.1 .
    AY495145 Genomic DNA. Translation: AAR93211.1 .
    AY495146 Genomic DNA. Translation: AAR93224.1 .
    AY495147 Genomic DNA. Translation: AAR93237.1 .
    AY495148 Genomic DNA. Translation: AAR93250.1 .
    AY495149 Genomic DNA. Translation: AAR93263.1 .
    AY495150 Genomic DNA. Translation: AAR93276.1 .
    AY495151 Genomic DNA. Translation: AAR93289.1 .
    AY495152 Genomic DNA. Translation: AAR93302.1 .
    AY495153 Genomic DNA. Translation: AAR93315.1 .
    AY495154 Genomic DNA. Translation: AAR93328.1 .
    AY495155 Genomic DNA. Translation: AAR93341.1 .
    AY495156 Genomic DNA. Translation: AAR93354.1 .
    AY495157 Genomic DNA. Translation: AAR93367.1 .
    AY495158 Genomic DNA. Translation: AAR93380.1 .
    AY495159 Genomic DNA. Translation: AAR93393.1 .
    AY495160 Genomic DNA. Translation: AAR93406.1 .
    AY495161 Genomic DNA. Translation: AAR93419.1 .
    AY495162 Genomic DNA. Translation: AAR93432.1 .
    AY495163 Genomic DNA. Translation: AAR93445.1 .
    AY495164 Genomic DNA. Translation: AAR93458.1 .
    AY495165 Genomic DNA. Translation: AAR93471.1 .
    AY495166 Genomic DNA. Translation: AAR93484.1 .
    AY495167 Genomic DNA. Translation: AAR93497.1 .
    AY495168 Genomic DNA. Translation: AAR93510.1 .
    AY495169 Genomic DNA. Translation: AAR93523.1 .
    AY495170 Genomic DNA. Translation: AAR93536.1 .
    AY495171 Genomic DNA. Translation: AAR93549.1 .
    AY495172 Genomic DNA. Translation: AAR93562.1 .
    AY495173 Genomic DNA. Translation: AAR93575.1 .
    AY495174 Genomic DNA. Translation: AAR93588.1 .
    AY495175 Genomic DNA. Translation: AAR93601.1 .
    AY495176 Genomic DNA. Translation: AAR93614.1 .
    AY495177 Genomic DNA. Translation: AAR93627.1 .
    AY495180 Genomic DNA. Translation: AAR93666.1 .
    AY495185 Genomic DNA. Translation: AAR93731.1 .
    AY495187 Genomic DNA. Translation: AAR93757.1 .
    AY495188 Genomic DNA. Translation: AAR93770.1 .
    AY495189 Genomic DNA. Translation: AAR93783.1 .
    AY495190 Genomic DNA. Translation: AAR93796.1 .
    AY495191 Genomic DNA. Translation: AAR93809.1 .
    AY495192 Genomic DNA. Translation: AAR93822.1 .
    AY495193 Genomic DNA. Translation: AAR93835.1 .
    AY495194 Genomic DNA. Translation: AAR93848.1 .
    AY495239 Genomic DNA. Translation: AAR94433.1 .
    AY495240 Genomic DNA. Translation: AAR94446.1 .
    AY495241 Genomic DNA. Translation: AAR94459.1 .
    AY495242 Genomic DNA. Translation: AAR94472.1 .
    AY495243 Genomic DNA. Translation: AAR94485.1 .
    AY495244 Genomic DNA. Translation: AAR94498.1 .
    AY495245 Genomic DNA. Translation: AAR94511.1 .
    AY495246 Genomic DNA. Translation: AAR94524.1 .
    AY495247 Genomic DNA. Translation: AAR94537.1 .
    AY495248 Genomic DNA. Translation: AAR94550.1 .
    AY495249 Genomic DNA. Translation: AAR94563.1 .
    AY495250 Genomic DNA. Translation: AAR94576.1 .
    AY495251 Genomic DNA. Translation: AAR94589.1 .
    AY495252 Genomic DNA. Translation: AAR94602.1 .
    AY495253 Genomic DNA. Translation: AAR94615.1 .
    AY495254 Genomic DNA. Translation: AAR94628.1 .
    AY495255 Genomic DNA. Translation: AAR94641.1 .
    AY495257 Genomic DNA. Translation: AAR94667.1 .
    AY495258 Genomic DNA. Translation: AAR94680.1 .
    AY495259 Genomic DNA. Translation: AAR94693.1 .
    AY495260 Genomic DNA. Translation: AAR94706.1 .
    AY495261 Genomic DNA. Translation: AAR94719.1 .
    AY495262 Genomic DNA. Translation: AAR94732.1 .
    AY495263 Genomic DNA. Translation: AAR94745.1 .
    AY495264 Genomic DNA. Translation: AAR94758.1 .
    AY495265 Genomic DNA. Translation: AAR94771.1 .
    AY495306 Genomic DNA. Translation: AAR95304.1 .
    AY495307 Genomic DNA. Translation: AAR95317.1 .
    AY495308 Genomic DNA. Translation: AAR95330.1 .
    AY495309 Genomic DNA. Translation: AAR95343.1 .
    AY495310 Genomic DNA. Translation: AAR95356.1 .
    AY495311 Genomic DNA. Translation: AAR95369.1 .
    AY495312 Genomic DNA. Translation: AAR95382.1 .
    AY495313 Genomic DNA. Translation: AAR95395.1 .
    AY495314 Genomic DNA. Translation: AAR95408.1 .
    AY495315 Genomic DNA. Translation: AAR95421.1 .
    AY495316 Genomic DNA. Translation: AAR95434.1 .
    AY495317 Genomic DNA. Translation: AAR95447.1 .
    AY495318 Genomic DNA. Translation: AAR95460.1 .
    AY495319 Genomic DNA. Translation: AAR95473.1 .
    AY495320 Genomic DNA. Translation: AAR95486.1 .
    AY495321 Genomic DNA. Translation: AAR95499.1 .
    AY495322 Genomic DNA. Translation: AAR95512.1 .
    AY495323 Genomic DNA. Translation: AAR95525.1 .
    AY495324 Genomic DNA. Translation: AAR95538.1 .
    AY495325 Genomic DNA. Translation: AAR95551.1 .
    AY495326 Genomic DNA. Translation: AAR95564.1 .
    AY495327 Genomic DNA. Translation: AAR95577.1 .
    AY495328 Genomic DNA. Translation: AAR95590.1 .
    AY495329 Genomic DNA. Translation: AAR95603.1 .
    AY495330 Genomic DNA. Translation: AAR95616.1 .
    AY495256 Genomic DNA. Translation: AAR94654.1 .
    FJ236980 Genomic DNA. Translation: ACI31490.1 .
    M10546 Genomic DNA. Translation: AAA65501.1 .
    PIRi A00407. DNHUN1.
    RefSeqi YP_003024026.1. NC_012920.1.

    3D structure databases

    ProteinModelPortali P03886.
    SMRi P03886. Positions 1-310.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110631. 12 interactions.
    IntActi P03886. 5 interactions.
    MINTi MINT-5165406.

    Chemistry

    BindingDBi P03886.
    ChEMBLi CHEMBL2363065.
    DrugBanki DB01189. Desflurane.
    DB00228. Enflurane.
    DB01159. Halothane.
    DB00753. Isoflurane.
    DB01028. Methoxyflurane.
    DB00157. NADH.
    DB01236. Sevoflurane.

    Polymorphism databases

    DMDMi 128641.

    Proteomic databases

    PaxDbi P03886.
    PeptideAtlasi P03886.
    PRIDEi P03886.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361390 ; ENSP00000354687 ; ENSG00000198888 .
    GeneIDi 4535.
    KEGGi hsa:4535.

    Organism-specific databases

    CTDi 4535.
    GeneCardsi GCMTP003309.
    GeneReviewsi MT-ND1.
    HGNCi HGNC:7455. MT-ND1.
    HPAi CAB033779.
    MIMi 502500. phenotype.
    516000. gene.
    535000. phenotype.
    540000. phenotype.
    neXtProti NX_P03886.
    Orphaneti 104. Leber hereditary optic neuropathy.
    255210. Maternally-inherited Leigh syndrome.
    550. MELAS syndrome.
    PharmGKBi PA31259.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1005.
    HOGENOMi HOG000228276.
    HOVERGENi HBG016682.
    InParanoidi P03886.
    KOi K03878.
    OMAi ETIIPNT.
    OrthoDBi EOG77WWCV.
    PhylomeDBi P03886.
    TreeFami TF352957.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    GeneWikii MT-ND1.
    GenomeRNAii 4535.
    NextBioi 17496.
    PROi P03886.
    SOURCEi Search...

    Gene expression databases

    Bgeei P03886.
    Genevestigatori P03886.

    Family and domain databases

    HAMAPi MF_01350. NDH1_NuoH.
    InterProi IPR001694. NADH_UbQ_OxRdtase_su1/FPO.
    IPR018086. NADH_UbQ_OxRdtase_su1_CS.
    [Graphical view ]
    PANTHERi PTHR11432. PTHR11432. 1 hit.
    Pfami PF00146. NADHdh. 1 hit.
    [Graphical view ]
    PROSITEi PS00667. COMPLEX1_ND1_1. 1 hit.
    PS00668. COMPLEX1_ND1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs."
      Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.
      Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-87 AND ALA-168.
      Tissue: Placenta.
    3. "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].
    4. "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].
    5. "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].
    6. "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].
    7. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    8. "Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing."
      Sanger F., Coulson A.R., Barrell B.G., Smith A.J.H., Roe B.A.
      J. Mol. Biol. 143:161-178(1980) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 130-318.
    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. "Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes."
      Yu P., Yu D.M., Liu D.M., Wang K., Tang X.Z.
      Chin. Med. J. 117:985-989(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO NIDDM.
    12. "Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees."
      Howell N., Bindoff L.A., McCullough D.A., Kubacka I., Poulton J., Mackey D., Taylor L., Turnbull D.M.
      Am. J. Hum. Genet. 49:939-950(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHON THR-52.
    13. "A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy."
      Huoponen K., Vilkki J., Aula P., Nikoskelainen E.K., Savontaus M.L.
      Am. J. Hum. Genet. 48:1147-1153(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHON THR-52.
    14. "Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation."
      Howell N., Kubacka I., Xu M., McCullough D.A.
      Am. J. Hum. Genet. 48:935-942(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHON PRO-285, VARIANT CYS-277.
    15. "Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy."
      Johns D.R., Berman J.
      Biochem. Biophys. Res. Commun. 174:1324-1330(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHON HIS-304.
    16. "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 THR-52.
    17. "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-205; CYS-255 AND PRO-288.
    18. "An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy."
      Johns D.R., Neufeld M.J., Park R.D.
      Biochem. Biophys. Res. Commun. 187:1551-1557(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHON HIS-30.
    19. Cited for: VARIANT AD-MT VAL-31.
    20. "A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus."
      Jaksch M., Hofmann S., Kaufhold P., Obermaier-Kusser B., Zierz S., Gerbitz K.-D.
      Hum. Mutat. 7:358-360(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MELAS THR-31.
    21. "A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus."
      Nakagawa Y., Ikegami H., Yamato E., Takekawa K., Fujisawa T., Hamada Y., Ueda H., Uchigata Y., Miki T., Kumahara Y.
      Biochem. Biophys. Res. Commun. 209:664-668(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THR-4, POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO NIDDM.
    22. "A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss."
      Chamkha I., Mkaouar-Rebai E., Aloulou H., Chabchoub I., Kifagi C., Fendri-Kriaa N., Kammoun T., Hachicha M., Fakhfakh F.
      Biochem. Biophys. Res. Commun. 404:504-510(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CYS-30.

    Entry informationi

    Entry nameiNU1M_HUMAN
    AccessioniPrimary (citable) accession number: P03886
    Secondary accession number(s): C0JKH6, Q37523
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: July 21, 1986
    Last modified: October 1, 2014
    This is version 150 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