Entity Details

Primary name CIA30_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y375
EntryNameCIA30_HUMAN
FullNameComplex I intermediate-associated protein 30, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length327
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesNDUFAF1

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0010257 NADH dehydrogenase complex assembly
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0051082 unfolded protein binding
GO:0051131 chaperone-mediated protein complex assembly
GO:0065003 protein-containing complex assembly

Subcellular Location

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Subcellular Location
Mitochondrion
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR008979 Galactose-binding-like domain superfamilyFamilyHomologous superfamily
IPR013857 NADH:ubiquinone oxidoreductase intermediate-associated protein 30DomainDomain
IPR039131 Complex I intermediate-associated protein 30, mitochondrialFamilyFamily

Diseases

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Disease IDSourceNameDescription
618234 OMIMMitochondrial complex I deficiency, nuclear type 11 (MC1DN11)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. MC1DN11 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.