Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chm | Rat | Choroideremia | | ISO | CHM (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chm | Rat | Choroideremia | | ISO | CHM (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. | Andres DA, etal., Cell 1993 Jun 18;73(6):1091-9. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 5. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 7. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
| 8. | Structure of Rab escort protein-1 in complex with Rab geranylgeranyltransferase. | Pylypenko O, etal., Mol Cell. 2003 Feb;11(2):483-94. |
| 9. | Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. | Rak A, etal., Cell. 2004 Jun 11;117(6):749-60. |
| 10. | GOA pipeline | RGD automated data pipeline |
| 11. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 13. | Cloning, mapping and characterization of the human RAB27A gene. | Tolmachova T, etal., Gene 1999 Oct 18;239(1):109-16. |
| 14. | Polski tygodnik lekarski (Warsaw, Poland : 1960) | Zderkiewicz E Pol Tyg Lek 1978 Jul 17;33(29):1157-9. |
| Chm (Rattus norvegicus - Norway rat) |
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| CHM (Homo sapiens - human) |
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| Chm (Mus musculus - house mouse) |
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| Chm (Chinchilla lanigera - long-tailed chinchilla) |
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| CHM (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CHM (Canis lupus familiaris - dog) |
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| Chm (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CHM (Sus scrofa - pig) |
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| CHM (Chlorocebus sabaeus - green monkey) |
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| Chm (Heterocephalus glaber - naked mole-rat) |
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Variants in Chm
656 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| DXWox24 |
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| DXWox25 |
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| BF386272 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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| 10 | 16 | 12 | 150 | 249 | 91 | 90 | 65 | 139 | 59 | 22 | 485 | 331 | 11 | 228 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001433732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_017067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_197594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039099489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005497922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | CH473969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L13722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000000174 ⟹ ENSRNOP00000000174 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000088570 ⟹ ENSRNOP00000075357 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000102082 ⟹ ENSRNOP00000078117 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000110757 ⟹ ENSRNOP00000090179 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000110841 ⟹ ENSRNOP00000091929 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000127143 ⟹ ENSRNOP00000107063 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000129256 ⟹ ENSRNOP00000110199 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000172860 ⟹ ENSRNOP00000099562 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_017067 ⟹ NP_058763 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039099489 ⟹ XP_038955417 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XR_005497922 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| Protein RefSeqs | NP_001420661 | (Get FASTA) | NCBI Sequence Viewer |
| NP_058763 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038955417 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA87626 | (Get FASTA) | NCBI Sequence Viewer |
| EDM07072 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM07073 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM07074 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000000174 | ||
| GenBank Protein | P37727 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_058763 ⟸ NM_017067 |
| - UniProtKB: | P37727 (UniProtKB/Swiss-Prot), A6IVA7 (UniProtKB/TrEMBL), G3V607 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000000174 ⟸ ENSRNOT00000000174 |
| Ensembl Acc Id: | ENSRNOP00000075357 ⟸ ENSRNOT00000088570 |
| RefSeq Acc Id: | XP_038955417 ⟸ XM_039099489 |
| - Peptide Label: | isoform X1 |
| Ensembl Acc Id: | ENSRNOP00000078117 ⟸ ENSRNOT00000102082 |
| Ensembl Acc Id: | ENSRNOP00000091929 ⟸ ENSRNOT00000110841 |
| Ensembl Acc Id: | ENSRNOP00000090179 ⟸ ENSRNOT00000110757 |
| Ensembl Acc Id: | ENSRNOP00000099562 ⟸ ENSRNOT00000172860 |
| Ensembl Acc Id: | ENSRNOP00000107063 ⟸ ENSRNOT00000127143 |
| Ensembl Acc Id: | ENSRNOP00000110199 ⟸ ENSRNOT00000129256 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-P37727-F1-model_v2 | AlphaFold | P37727 | 1-650 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701917 | ||||||||
| Promoter ID: | EPDNEW_R12441 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Chm_1 | ||||||||
| Description: | CHM, Rab escort protein 1 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:2340 | AgrOrtholog |
| BioCyc Gene | G2FUF-1824 | BioCyc |
| Ensembl Genes | ENSRNOG00000000161 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000000174 | ENTREZGENE |
| Gene3D-CATH | 3.50.50.60 | UniProtKB/Swiss-Prot |
| Guanine Nucleotide Dissociation Inhibitor, domain 1 | UniProtKB/Swiss-Prot | |
| Guanine Nucleotide Dissociation Inhibitor, domain 2 | UniProtKB/Swiss-Prot | |
| InterPro | FAD/NAD-bd_sf | UniProtKB/Swiss-Prot |
| GDP_dissociation_inhibitor | UniProtKB/Swiss-Prot | |
| Rab_escort | UniProtKB/Swiss-Prot | |
| RAE1_2_domI_C | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:24942 | UniProtKB/Swiss-Prot |
| NCBI Gene | 24942 | ENTREZGENE |
| PANTHER | PTHR11787 | UniProtKB/Swiss-Prot |
| RAB PROTEINS GERANYLGERANYLTRANSFERASE COMPONENT A 1 | UniProtKB/Swiss-Prot | |
| Pfam | GDI | UniProtKB/Swiss-Prot |
| RAE1_2_domI_C | UniProtKB/Swiss-Prot | |
| PhenoGen | Chm | PhenoGen |
| PIRSF | Rab_ger_ger_transf_A_euk | UniProtKB/Swiss-Prot |
| PRINTS | RABESCORT | UniProtKB/Swiss-Prot |
| RABGDIREP | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000000161 | RatGTEx |
| Superfamily-SCOP | FAD-linked reductases, C-terminal domain | UniProtKB/Swiss-Prot |
| SSF51905 | UniProtKB/Swiss-Prot | |
| UniProt | A0A0G2KAD5_RAT | UniProtKB/TrEMBL |
| A0A8I5Y2F6_RAT | UniProtKB/TrEMBL | |
| A0A8I6AA83_RAT | UniProtKB/TrEMBL | |
| A0A8I6AG68 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0ABK0KXS0_RAT | UniProtKB/TrEMBL | |
| A0ABK0LX61_RAT | UniProtKB/TrEMBL | |
| A0ABK0M4H4_RAT | UniProtKB/TrEMBL | |
| A6IVA6_RAT | UniProtKB/TrEMBL | |
| A6IVA7 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6IVA8_RAT | UniProtKB/TrEMBL | |
| G3V607 | ENTREZGENE, UniProtKB/TrEMBL | |
| P37727 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-04-10 | Chm | CHM Rab escort protein | Chm | CHM, Rab escort protein 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2016-03-01 | Chm | CHM, Rab escort protein 1 | Chm | choroideremia (Rab escort protein 1) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-09-25 | Chm | choroideremia (Rab escort protein 1) | Chm | choroidermia | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2002-06-10 | Chm | Choroideremia | Symbol and Name status set to approved | 70586 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_function | binds prenylated Rabs and catalyzes geranylgeranyl transfer reaction | 704419 |