Chm - choroidermia (RAB escort protein 1) Gene
Also Known as Rep-1
Species: Mus musculus
Summary
Predicted to enable small GTPase binding activity. Acts upstream of or within blood vessel development. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytosol and nucleus. Is expressed in urethra. Used to study choroideremia. Human ortholog(s) of this gene implicated in choroideremia. Orthologous to human CHM (CHM Rab escort protein). [provided by Alliance of Genome Resources, Apr 2022]
Chm Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_001370788.1 | NP_001357717.1 | rab proteins geranylgeranyltransferase component A 1 isoform 2 |
| NM_001370789.1 | NP_001357718.1 | rab proteins geranylgeranyltransferase component A 1 isoform 3 |
| NM_001370790.1 | NP_001357719.1 | rab proteins geranylgeranyltransferase component A 1 isoform 4 |
| NM_001409667.1 | NP_001396596.1 | rab proteins geranylgeranyltransferase component A 1 isoform 5 |
| NM_001409668.1 | NP_001396597.1 | rab proteins geranylgeranyltransferase component A 1 isoform 6 |
| NM_001409669.1 | NP_001396598.1 | rab proteins geranylgeranyltransferase component A 1 isoform 7 |
| NM_001409670.1 | NP_001396599.1 | rab proteins geranylgeranyltransferase component A 1 isoform 8 |
| NM_001409675.1 | NP_001396604.1 | rab proteins geranylgeranyltransferase component A 1 isoform 8 |
| NM_001409676.1 | NP_001396605.1 | rab proteins geranylgeranyltransferase component A 1 isoform 8 |
| NM_001409677.1 | NP_001396606.1 | rab proteins geranylgeranyltransferase component A 1 isoform 9 |
| NM_001409678.1 | NP_001396607.1 | rab proteins geranylgeranyltransferase component A 1 isoform 7 |
| NM_018818.2 | NP_061288.2 | rab proteins geranylgeranyltransferase component A 1 isoform 1 |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| acts upstream of or within blood vessel development |
IMP
IMP: Inferred from mutant phenotype
|
15242790 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
rab proteins geranylgeranyltransferase component A 1 |
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