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RAB5 interacting factor
Summary
- Gene Symbol
-
- RAB5IF
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Endoplasmic reticulum
- Intellectual disability
- Mitochondrion inner membrane
- Proteomics identification
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9BUV8 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial respirasome assembly | ||
| multi-pass transmembrane protein insertion into ER membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrion | ||
| mitochondrial inner membrane | ||
| endoplasmic reticulum membrane | ||
| multi-pass translocon complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- RAB5-interacting protein
- Functional Category
-
- J: Translation, ribosomal structure and biogenesis
- L: Replication, recombination and repair
- O: Posttranslational modification, protein turnover, chaperones
| Gene Ontology |
|---|
| mitochondrial respirasome assembly |
| InterPro |
|---|
| ER membrane protein complex subunit 6-like |
| Respirasome Complex Assembly Factor 1 |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081125 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 |
