Gene
rab5if
- ID
- ZDB-GENE-030131-5938
- Name
- RAB5 interacting factor
- Symbol
- rab5if Nomenclature History
- Previous Names
-
- c20orf24
- c23h20orf24
- fi26d09
- wu:fi26d09
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to act upstream of or within mitochondrial respirasome assembly. Predicted to be located in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. Orthologous to human RAB5IF (RAB5 interacting factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55393 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | Alliance | ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | 616994 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ER membrane protein complex subunit 6-like | Respirasome Complex Assembly Factor 1 |
|---|---|---|---|---|
| UniProtKB:F1RD59 | InterPro | 127 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rab5if-201
(1)
|
Ensembl | 1,523 nt |
Interactions and Pathways
No data available
Plasmids
No data available