Entity Details

Primary name NUBPL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TB37
EntryNameNUBPL_HUMAN
FullNameIron-sulfur protein NUBPL
TaxID9606
Evidenceevidence at protein level
Length319
SequenceStatuscomplete
DateCreated2003-11-07
DateModified2021-06-02

Ontological Relatives

GenesNUBPL

GO terms

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GOName
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005886 plasma membrane
GO:0016226 iron-sulfur cluster assembly
GO:0016887 ATP hydrolysis activity
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0046872 metal ion binding
GO:0051539 4 iron, 4 sulfur cluster binding
GO:0070584 mitochondrion morphogenesis

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR000808 Mrp, conserved siteSiteConserved site
IPR019591 Mrp/NBP35 ATP-binding proteinFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR033756 Flagellum site-determining protein YlxH/ Fe-S cluster assembling factor NBP35FamilyFamily
IPR044304 Iron-sulfur protein NUBPL-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
618242 OMIMMitochondrial complex I deficiency, nuclear type 21 (MC1DN21)A 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. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
NUBPL_HUMANMTUS2_HUMANBioGRID, IntAct24722188 details
NUBPL_HUMANKDM8_HUMANBioGRID, IntAct32296183 details
NUBPL_HUMANNUBP2_HUMANBioGRID, IntAct32296183 details