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Protein

NADH-ubiquinone oxidoreductase chain 1

Gene

MT-ND1

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

Functioni

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).By similarity

Catalytic activityi

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

GO - Molecular functioni

  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processElectron transport, Respiratory chain, Transport
LigandNAD, Ubiquinone

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

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
Proteomesi
  • UP000005640 Componenti: Mitochondrion

Organism-specific databases

EuPathDBiHostDB:ENSG00000198888.2
HGNCiHGNC:7455 MT-ND1
MIMi516000 gene
neXtProtiNX_P03886

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei2 – 22HelicalSequence analysisAdd BLAST21
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Transmembranei146 – 166HelicalSequence analysisAdd BLAST21
Transmembranei171 – 191HelicalSequence analysisAdd BLAST21
Transmembranei231 – 251HelicalSequence analysisAdd BLAST21
Transmembranei253 – 273HelicalSequence analysisAdd BLAST21
Transmembranei294 – 314HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Leber hereditary optic neuropathy (LHON)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:535000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00474830Y → H in LHON; secondary mutation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs41460449Ensembl.1
Natural variantiVAR_00475152A → 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. 3 PublicationsCorresponds to variant dbSNP:rs199476118Ensembl.1
Natural variantiVAR_004753285L → P in LHON; secondary mutation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199476119Ensembl.1
Natural variantiVAR_004754304Y → H in LHON; secondary mutation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1599988Ensembl.1
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionGenetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.
See also OMIM:540000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00474931M → T in MELAS. 1 PublicationCorresponds to variant dbSNP:rs201212638Ensembl.1
Alzheimer disease mitochondrial (AD-MT)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionAlzheimer 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 constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
See also OMIM:502500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00475031M → V in AD-MT; may be associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs199476120Ensembl.1
Diabetes mellitus, non-insulin-dependent (NIDDM)2 Publications
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:125853
Mitochondrial complex I deficiency (MT-C1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
See also OMIM:252010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073352214E → K in MT-C1D; disease phenotype consistent with epileptic encephalopathy evolving to Lennox-Gastaut syndrome. 1 PublicationCorresponds to variant dbSNP:rs199476123Ensembl.1

Keywords - Diseasei

Alzheimer disease, Amyloidosis, Diabetes mellitus, Disease mutation, Epilepsy, Leber hereditary optic neuropathy, MELAS syndrome, Neurodegeneration, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4535
GeneReviewsiMT-ND1
MalaCardsiMT-ND1
MIMi125853 phenotype
252010 phenotype
502500 phenotype
535000 phenotype
540000 phenotype
OpenTargetsiENSG00000198888
Orphaneti104 Leber hereditary optic neuropathy
255210 Maternally-inherited Leigh syndrome
550 MELAS
PharmGKBiPA31259

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB01189 Desflurane
DB01159 Halothane
DB00753 Isoflurane
DB01028 Methoxyflurane
DB04464 N-Formylmethionine
DB00157 NADH
DB01236 Sevoflurane

Polymorphism and mutation databases

DMDMi128641

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001174141 – 318NADH-ubiquinone oxidoreductase chain 1Add BLAST318

Proteomic databases

EPDiP03886
PaxDbiP03886
PeptideAtlasiP03886
PRIDEiP03886

Expressioni

Gene expression databases

BgeeiENSG00000198888
ExpressionAtlasiP03886 baseline and differential
GenevisibleiP03886 HS

Organism-specific databases

HPAiCAB033779

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi110631, 38 interactors
CORUMiP03886
IntActiP03886, 14 interactors
MINTiP03886
STRINGi9606.ENSP00000354687

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTCelectron microscopy3.70s1-318[»]
5XTDelectron microscopy3.70s1-318[»]
ProteinModelPortaliP03886
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I subunit 1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4770 Eukaryota
COG1005 LUCA
GeneTreeiENSGT00390000006621
HOGENOMiHOG000228276
HOVERGENiHBG016682
InParanoidiP03886
KOiK03878
OMAiWNIWRQP
OrthoDBiEOG091G0F0D
PhylomeDBiP03886
TreeFamiTF352957

Family and domain databases

HAMAPiMF_01350 NDH1_NuoH, 1 hit
InterProiView protein in InterPro
IPR001694 NADH_UbQ_OxRdtase_su1/FPO
IPR018086 NADH_UbQ_OxRdtase_su1_CS
PANTHERiPTHR11432 PTHR11432, 1 hit
PfamiView protein in Pfam
PF00146 NADHdh, 1 hit
PROSITEiView protein in PROSITE
PS00667 COMPLEX1_ND1_1, 1 hit
PS00668 COMPLEX1_ND1_2, 1 hit

Sequencei

Sequence statusi: Complete.

P03886-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPMANLLLLI VPILIAMAFL MLTERKILGY MQLRKGPNVV GPYGLLQPFA
60 70 80 90 100
DAMKLFTKEP LKPATSTITL YITAPTLALT IALLLWTPLP MPNPLVNLNL
110 120 130 140 150
GLLFILATSS LAVYSILWSG WASNSNYALI GALRAVAQTI SYEVTLAIIL
160 170 180 190 200
LSTLLMSGSF NLSTLITTQE HLWLLLPSWP LAMMWFISTL AETNRTPFDL
210 220 230 240 250
AEGESELVSG FNIEYAAGPF ALFFMAEYTN IIMMNTLTTT IFLGTTYDAL
260 270 280 290 300
SPELYTTYFV TKTLLLTSLF LWIRTAYPRF RYDQLMHLLW KNFLPLTLAL
310
LMWYVSMPIT ISSIPPQT
Length:318
Mass (Da):35,661
Last modified:July 21, 1986 - v1
Checksum:i2F771ACB95002591
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti287H → R in ACI31490 (PubMed:19243582).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0047474A → T Might contribute to non-insulin dependent diabetes mellitus susceptibility in some populations. 1 PublicationCorresponds to variant dbSNP:rs2853516Ensembl.1
Natural variantiVAR_06519530Y → C in a patient with hypertrophic cardiomyopathy and profound hearing loss. 1 Publication1
Natural variantiVAR_00474830Y → H in LHON; secondary mutation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs41460449Ensembl.1
Natural variantiVAR_00474931M → T in MELAS. 1 PublicationCorresponds to variant dbSNP:rs201212638Ensembl.1
Natural variantiVAR_00475031M → V in AD-MT; may be associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs199476120Ensembl.1
Natural variantiVAR_00475152A → 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. 3 PublicationsCorresponds to variant dbSNP:rs199476118Ensembl.1
Natural variantiVAR_01134687T → A1 PublicationCorresponds to variant dbSNP:rs2854133Ensembl.1
Natural variantiVAR_011347168T → A1 PublicationCorresponds to variant dbSNP:rs2854135Ensembl.1
Natural variantiVAR_008587205S → P1 Publication1
Natural variantiVAR_073352214E → K in MT-C1D; disease phenotype consistent with epileptic encephalopathy evolving to Lennox-Gastaut syndrome. 1 PublicationCorresponds to variant dbSNP:rs199476123Ensembl.1
Natural variantiVAR_008588255Y → C1 Publication1
Natural variantiVAR_004752277Y → C1 PublicationCorresponds to variant dbSNP:rs199476121Ensembl.1
Natural variantiVAR_004753285L → P in LHON; secondary mutation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199476119Ensembl.1
Natural variantiVAR_008589288L → P1 Publication1
Natural variantiVAR_004754304Y → H in LHON; secondary mutation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1599988Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNU1M_HUMAN
AccessioniPrimary (citable) accession number: P03886
Secondary accession number(s): C0JKH6, Q37523
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: May 23, 2018
This is version 181 of the entry and version 1 of the sequence. See 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

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