NUBPL Gene Summary [Human]
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Details
| Type | Protein Coding |
| Official Symbol | NUBPL |
| Official Name | nucleotide binding protein like [Source:HGNC Symbol;Acc:HGNC:20278] |
| Ensembl ID | ENSG00000151413 |
| Bio databases IDs | |
| Aliases | nucleotide binding protein like, NUBP iron-sulfur cluster assembly factor, mitochondrial, iron-sulfur protein required for NADH dehydrogenase |
| Synonyms | 2410170E07Rik, C14orf127, HUIND1, IND1, MC1DN21, NUBP iron-sulfur cluster assembly factor like, NUBP iron-sulfur cluster assembly factor, mitochondrial, NUBP iron-sulphur cluster assembly factor like, NUBP iron-sulphur cluster assembly factor, mitochondrial, nucleotide binding protein-like, RGD1307232 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NUBPL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CobQ/CobB/MinD/ParA nucleotide binding domain
- binding protein
- septum site-determining protein MinD
- 4Fe-4S iron sulfur cluster binding proteins, NifH/frxC family
- NUBPL iron-transfer P-loop NTPase
- protein binding
- cell division ATPase MinD, archaeal
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- flu
- COVID-19
- nuclear type 21 mitochondrial complex I deficiency
- febrile seizure
- Leigh syndrome
- Mitochondrial complex I deficiency
- hereditary disorder
- otitis media
- oxidative phosphorylation disease
- nuclear type 1 mitochondrial complex I deficiency
regulated by
- IL1B
- IFNG
- NKX2-2-AS1
- calcitriol
role in cell
- expression in
- morphology
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Plasma Membrane
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NUBPL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial respiratory chain complex I assembly
- mitochondrion organization
- iron-sulfur cluster assembly
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- metal ion binding
- 4 iron, 4 sulfur cluster binding