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Protein

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial

Gene

NDUFB11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.1 Publication

GO - Biological processi

  • mitochondrial electron transport, NADH to ubiquinone Source: Reactome
  • mitochondrial respiratory chain complex I assembly Source: UniProtKB

Keywordsi

Biological processElectron transport, Respiratory chain, Transport

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial
Alternative name(s):
Complex I-ESSS
Short name:
CI-ESSS
NADH-ubiquinone oxidoreductase ESSS subunit
Neuronal protein 17.3
Short name:
Np17.3
Short name:
p17.3
Gene namesi
Name:NDUFB11
ORF Names:UNQ111/PRO1064
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000147123.10.
HGNCiHGNC:20372. NDUFB11.

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
Transmembranei89 – 109HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Linear skin defects with multiple congenital anomalies 3 (LSDMCA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles.
See also OMIM:300952
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_076277121E → K in MT-C1D. 1 Publication1
Cardiomyopathy, infantile histiocytoid (CMIH)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome.
See also OMIM:500000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07894185 – 153Missing in CMIH; unknown pathological significance. 1 PublicationAdd BLAST69
Natural variantiVAR_078942108 – 153Missing in CMIH; unknown pathological significance. 1 PublicationAdd BLAST46

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi54539.
MalaCardsiNDUFB11.
MIMi252010. phenotype.
300952. phenotype.
500000. phenotype.
OpenTargetsiENSG00000147123.
PharmGKBiPA134924203.

Chemistry databases

ChEMBLiCHEMBL2363065.

Polymorphism and mutation databases

BioMutaiNDUFB11.
DMDMi32469787.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 29MitochondrionBy similarityAdd BLAST29
ChainiPRO_000002005730 – 153NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrialAdd BLAST124

Proteomic databases

EPDiQ9NX14.
MaxQBiQ9NX14.
PeptideAtlasiQ9NX14.
PRIDEiQ9NX14.
TopDownProteomicsiQ9NX14-1. [Q9NX14-1]
Q9NX14-2. [Q9NX14-2]

PTM databases

iPTMnetiQ9NX14.
PhosphoSitePlusiQ9NX14.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000147123.
CleanExiHS_NDUFB11.
GenevisibleiQ9NX14. HS.

Organism-specific databases

HPAiHPA030367.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FATE1Q969F05EBI-1246182,EBI-743099

Protein-protein interaction databases

BioGridi120026. 62 interactors.
CORUMiQ9NX14.
IntActiQ9NX14. 21 interactors.
MINTiMINT-8247572.

Structurei

3D structure databases

ProteinModelPortaliQ9NX14.
SMRiQ9NX14.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFB11 subunit family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000003022.
HOGENOMiHOG000049196.
HOVERGENiHBG004073.
InParanoidiQ9NX14.
KOiK11351.
OMAiYLPDYRM.
OrthoDBiEOG091G0WTH.
PhylomeDBiQ9NX14.
TreeFamiTF314671.

Family and domain databases

InterProiView protein in InterPro
IPR019329. NADH_UbQ_OxRdtase_ESSS_su.
PfamiView protein in Pfam
PF10183. ESSS. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NX14-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAGLFGLSA RRLLAAAATR GLPAARVRWE SSFSRTVVAP SAVAGKRPPE
60 70 80 90 100
PTTPWQEDPE PEDENLYEKN PDSHGYDKDP VLDVWNMRLV FFFGVSIILV
110 120 130 140 150
LGSTFVAYLP DYRMKEWSRR EAERLVKYRE ANGLPIMESN CFDPSKIQLP

EDE
Length:153
Mass (Da):17,317
Last modified:October 1, 2000 - v1
Checksum:i2AF8FDD248A86C41
GO
Isoform 2 (identifier: Q9NX14-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-113: R → RCTGCPRAWDG

Show »
Length:163
Mass (Da):18,364
Checksum:iCB68F0B548056873
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13L → P in AAL32064 (PubMed:10544803).Curated1
Sequence conflicti153E → D in CAG33520 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07894185 – 153Missing in CMIH; unknown pathological significance. 1 PublicationAdd BLAST69
Natural variantiVAR_078942108 – 153Missing in CMIH; unknown pathological significance. 1 PublicationAdd BLAST46
Natural variantiVAR_076277121E → K in MT-C1D. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_018251113R → RCTGCPRAWDG in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF044213 mRNA. Translation: AAL32064.1.
AF251063 mRNA. Translation: AAK34953.1.
AK000501 mRNA. Translation: BAA91208.1.
AY359056 mRNA. Translation: AAQ89415.1.
CR457239 mRNA. Translation: CAG33520.1.
AL513366 Genomic DNA. Translation: CAI41699.1.
AL513366 Genomic DNA. Translation: CAI41698.1.
BC010665 mRNA. Translation: AAH10665.1.
BC107805 mRNA. Translation: AAI07806.1.
CCDSiCCDS14273.1. [Q9NX14-2]
CCDS48100.1. [Q9NX14-1]
RefSeqiNP_001129470.1. NM_001135998.2. [Q9NX14-1]
NP_061929.2. NM_019056.6. [Q9NX14-2]
UniGeneiHs.521969.

Genome annotation databases

EnsembliENST00000276062; ENSP00000276062; ENSG00000147123. [Q9NX14-2]
ENST00000377811; ENSP00000367042; ENSG00000147123. [Q9NX14-1]
GeneIDi54539.
KEGGihsa:54539.
UCSCiuc004dhc.4. human. [Q9NX14-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNDUBB_HUMAN
AccessioniPrimary (citable) accession number: Q9NX14
Secondary accession number(s): Q5JRR3
, Q5JRR4, Q6IAB6, Q8WZ96, Q9BXX9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: October 1, 2000
Last modified: September 27, 2017
This is version 140 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families