Version 5.4
Homo sapiens Protein: NUBPL
Summary
InnateDB Protein IDBP-584245.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NUBPL
Protein Name nucleotide binding protein-like
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000449918
InnateDB Gene IDBG-4421 (NUBPL)
Protein Structure
UniProt Annotation
Function Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits. {ECO:0000269PubMed:19752196}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:19752196}.
Disease Associations Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A 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. {ECO:0000269PubMed:20818383, ECO:0000269PubMed:23553477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level). {ECO:0000269PubMed:19752196}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005524 ATP binding
GO:0046872 metal ion binding
GO:0051539 4 iron, 4 sulfur cluster binding
Biological Process
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0070584 mitochondrion morphogenesis
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR002586 CobQ/CobB/MinD/ParA nucleotide binding domain
IPR015223 ATPase MipZ/NubP2/Cfd1
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF01656
PF09140
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TB37
PhosphoSite PhosphoSite-Q8TB37
TrEMBL
UniProt Splice Variant
Entrez Gene 80224
UniGene Hs.734993
RefSeq XP_005268156
HUGO HGNC:20278
OMIM 613621
CCDS
HPRD 16600
IMGT
EMBL AK022722 AK295326 AK316445 BC024919 BX248028 CH471078
GenPept AAH24919 BAB14203 BAG58303 BAH14816 CAD62349 EAW65942

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca