RAB5IF Gene Summary [Human]
Involved in mitochondrial respirasome assembly. Located in mitochondrial respirasome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RAB5IF |
| Official Name | RAB5 interacting factor [Source:HGNC Symbol;Acc:HGNC:15870] |
| Ensembl ID | ENSG00000101084 |
| Bio databases IDs | |
| Aliases | RAB5 interacting factor, respirasome complex assembly factor 1 |
| Synonyms | 1110008F13Rik, AI316789, C20orf24, CFSMR2, LOC55969, OPTI, PNAS-11, RAB5 interacting factor, RCAF1, RGD1307752, RIP5 |
| 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 RAB5IF often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EMC6
- transmembrane domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome type 2
- severe acute respiratory syndrome
- craniofacial dysmorphism skeletal anomalies and impaired intellectual development syndrome type 1
role in cell
- fusion
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
- membrane fraction
- endosomes
- Mitochondria
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB5IF gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial respiratory chain supercomplex assembly
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- mitochondrial respiratory chain
Molecular Function
What the gene product does at the molecular level
- protein binding