UniProtKB - Q86Y39 (NDUAB_HUMAN)
Protein
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11
Gene
NDUFA11
Organism
Homo sapiens (Human)
Status
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 process | Electron transport, Respiratory chain, Transport |
Enzyme and pathway databases
BioCyci | MetaCyc:HS16402-MONOMER |
PathwayCommonsi | Q86Y39 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11Alternative name(s): Complex I-B14.7 Short name: CI-B14.7 NADH-ubiquinone oxidoreductase subunit B14.7 |
Gene namesi | Name:NDUFA11 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20371, NDUFA11 |
MIMi | 612638, gene |
neXtProti | NX_Q86Y39 |
VEuPathDBi | HostDB:ENSG00000174886.12 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein Sequence analysis; Matrix side Curated
Mitochondrion
- mitochondrial inner membrane Source: Reactome
- mitochondrial respiratory chain complex I Source: UniProtKB
- mitochondrion Source: HPA
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 21 – 43 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 58 – 80 | HelicalSequence analysisAdd BLAST | 23 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial complex I deficiency, nuclear type 14 (MC1DN14)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN14 transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIMKeywords - Diseasei
Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 126328 |
MalaCardsi | NDUFA11 |
MIMi | 618236, phenotype |
OpenTargetsi | ENSG00000174886 |
Orphaneti | 2609, Isolated complex I deficiency |
PharmGKBi | PA134914606 |
Miscellaneous databases
Pharosi | Q86Y39, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2363065 |
DrugBanki | DB00157, NADH |
DrugCentrali | Q86Y39 |
Genetic variation databases
BioMutai | NDUFA11 |
DMDMi | 52000823 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedBy similarity1 Publication | |||
ChainiPRO_0000118841 | 2 – 141 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11Add BLAST | 140 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q86Y39 |
jPOSTi | Q86Y39 |
MassIVEi | Q86Y39 |
MaxQBi | Q86Y39 |
PaxDbi | Q86Y39 |
PeptideAtlasi | Q86Y39 |
PRIDEi | Q86Y39 |
ProteomicsDBi | 11546 70371 [Q86Y39-1] 70372 [Q86Y39-2] |
TopDownProteomicsi | Q86Y39-1 [Q86Y39-1] |
PTM databases
iPTMneti | Q86Y39 |
PhosphoSitePlusi | Q86Y39 |
SwissPalmi | Q86Y39 |
Expressioni
Gene expression databases
Bgeei | ENSG00000174886, Expressed in substantia nigra and 218 other tissues |
ExpressionAtlasi | Q86Y39, baseline and differential |
Genevisiblei | Q86Y39, HS |
Organism-specific databases
HPAi | ENSG00000174886, Low tissue specificity |
Interactioni
Subunit structurei
Complex I is composed of 45 different subunits.
2 PublicationsBinary interactionsi
Q86Y39
With | #Exp. | IntAct |
---|---|---|
MEOX2 [Q6FHY5] | 3 | EBI-1246415,EBI-16439278 |
Protein-protein interaction databases
BioGRIDi | 125981, 47 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | Q86Y39 |
IntActi | Q86Y39, 43 interactors |
MINTi | Q86Y39 |
STRINGi | 9606.ENSP00000389160 |
Chemistry databases
BindingDBi | Q86Y39 |
Miscellaneous databases
RNActi | Q86Y39, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the complex I NDUFA11 subunit family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S6F6, Eukaryota |
GeneTreei | ENSGT00390000012434 |
HOGENOMi | CLU_1214425_0_0_1 |
InParanoidi | Q86Y39 |
OMAi | MGYWDVP |
OrthoDBi | 1456214at2759 |
PhylomeDBi | Q86Y39 |
TreeFami | TF314729 |
Family and domain databases
InterProi | View protein in InterPro IPR039205, NDUFA11 |
PANTHERi | PTHR21382, PTHR21382, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q86Y39-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAPKVFRQYW DIPDGTDCHR KAYSTTSIAS VAGLTAAAYR VTLNPPGTFL
60 70 80 90 100
EGVAKVGQYT FTAAAVGAVF GLTTCISAHV REKPDDPLNY FLGGCAGGLT
110 120 130 140
LGARTHNYGI GAAACVYFGI AASLVKMGRL EGWEVFAKPK V
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketK7EQ77 | K7EQ77_HUMAN | Complex I-B14.7 | NDUFA11 | 120 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Isoform 2 (identifier: Q86Y39-2) | |||||
Sequence conflicti | 160 | S → G in BAC87088 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 221 | T → A in BAC87088 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_033813 | 105 – 141 | THNYG…AKPKV → KTGSHCVVQAGLKLLASSSP HTSASQSAGIIGMSHCVQRF WVPSSSACLEVLSGESTDVH ACSSTRGACNSSGSRPLPEL GARASGSLRKGGHTHPAPRG AGALTPVQALIESLLNTLGS NPRT in isoform 2. 1 PublicationAdd BLAST | 37 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ539081 mRNA Translation: CAD62165.1 AK127692 mRNA Translation: BAC87088.1 Sequence problems. AC024592 Genomic DNA No translation available. AC104532 Genomic DNA No translation available. BC069045 mRNA Translation: AAH69045.1 |
CCDSi | CCDS12155.1 [Q86Y39-1] CCDS54203.1 [Q86Y39-2] |
RefSeqi | NP_001180304.1, NM_001193375.1 [Q86Y39-2] NP_783313.1, NM_175614.4 [Q86Y39-1] |
Genome annotation databases
Ensembli | ENST00000308961; ENSP00000311740; ENSG00000174886 [Q86Y39-1] ENST00000418389; ENSP00000389160; ENSG00000174886 [Q86Y39-2] |
GeneIDi | 126328 |
KEGGi | hsa:126328 |
UCSCi | uc002mdp.3, human [Q86Y39-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ539081 mRNA Translation: CAD62165.1 AK127692 mRNA Translation: BAC87088.1 Sequence problems. AC024592 Genomic DNA No translation available. AC104532 Genomic DNA No translation available. BC069045 mRNA Translation: AAH69045.1 |
CCDSi | CCDS12155.1 [Q86Y39-1] CCDS54203.1 [Q86Y39-2] |
RefSeqi | NP_001180304.1, NM_001193375.1 [Q86Y39-2] NP_783313.1, NM_175614.4 [Q86Y39-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5XTC | electron microscopy | 3.70 | V | 2-141 | [»] | |
5XTD | electron microscopy | 3.70 | V | 2-141 | [»] | |
5XTH | electron microscopy | 3.90 | V | 2-141 | [»] | |
5XTI | electron microscopy | 17.40 | BV/V | 2-141 | [»] | |
SMRi | Q86Y39 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 125981, 47 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | Q86Y39 |
IntActi | Q86Y39, 43 interactors |
MINTi | Q86Y39 |
STRINGi | 9606.ENSP00000389160 |
Chemistry databases
BindingDBi | Q86Y39 |
ChEMBLi | CHEMBL2363065 |
DrugBanki | DB00157, NADH |
DrugCentrali | Q86Y39 |
PTM databases
iPTMneti | Q86Y39 |
PhosphoSitePlusi | Q86Y39 |
SwissPalmi | Q86Y39 |
Genetic variation databases
BioMutai | NDUFA11 |
DMDMi | 52000823 |
Proteomic databases
EPDi | Q86Y39 |
jPOSTi | Q86Y39 |
MassIVEi | Q86Y39 |
MaxQBi | Q86Y39 |
PaxDbi | Q86Y39 |
PeptideAtlasi | Q86Y39 |
PRIDEi | Q86Y39 |
ProteomicsDBi | 11546 70371 [Q86Y39-1] 70372 [Q86Y39-2] |
TopDownProteomicsi | Q86Y39-1 [Q86Y39-1] |
Protocols and materials databases
Antibodypediai | 52912, 80 antibodies |
Genome annotation databases
Ensembli | ENST00000308961; ENSP00000311740; ENSG00000174886 [Q86Y39-1] ENST00000418389; ENSP00000389160; ENSG00000174886 [Q86Y39-2] |
GeneIDi | 126328 |
KEGGi | hsa:126328 |
UCSCi | uc002mdp.3, human [Q86Y39-1] |
Organism-specific databases
CTDi | 126328 |
DisGeNETi | 126328 |
GeneCardsi | NDUFA11 |
HGNCi | HGNC:20371, NDUFA11 |
HPAi | ENSG00000174886, Low tissue specificity |
MalaCardsi | NDUFA11 |
MIMi | 612638, gene 618236, phenotype |
neXtProti | NX_Q86Y39 |
OpenTargetsi | ENSG00000174886 |
Orphaneti | 2609, Isolated complex I deficiency |
PharmGKBi | PA134914606 |
VEuPathDBi | HostDB:ENSG00000174886.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S6F6, Eukaryota |
GeneTreei | ENSGT00390000012434 |
HOGENOMi | CLU_1214425_0_0_1 |
InParanoidi | Q86Y39 |
OMAi | MGYWDVP |
OrthoDBi | 1456214at2759 |
PhylomeDBi | Q86Y39 |
TreeFami | TF314729 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS16402-MONOMER |
PathwayCommonsi | Q86Y39 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 126328, 354 hits in 869 CRISPR screens |
ChiTaRSi | NDUFA11, human |
GenomeRNAii | 126328 |
Pharosi | Q86Y39, Tclin |
PROi | PR:Q86Y39 |
RNActi | Q86Y39, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174886, Expressed in substantia nigra and 218 other tissues |
ExpressionAtlasi | Q86Y39, baseline and differential |
Genevisiblei | Q86Y39, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039205, NDUFA11 |
PANTHERi | PTHR21382, PTHR21382, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NDUAB_HUMAN | |
Accessioni | Q86Y39Primary (citable) accession number: Q86Y39 Secondary accession number(s): C9JT23, Q6ZS66 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 13, 2004 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 148 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families