Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Arhgef1 | Rat | immunodeficiency 62 | | ISO | ARHGEF1 (Homo sapiens) | 7240710 | | OMIM | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Arhgef1 | Rat | immunodeficiency 62 | | ISO | ARHGEF1 (Homo sapiens) | 7240710 | | OMIM | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | The Rho guanine nucleotide exchange factor Lsc homo-oligomerizes and is negatively regulated through domains in its carboxyl terminus that are absent in novel splenic isoforms. | Eisenhaure TM, etal., J Biol Chem 2003 Aug 15;278(33):30975-84. Epub 2003 May 28. |
| 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. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 4. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 5. | GOA pipeline | RGD automated data pipeline |
| 6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 7. | Information Derived from GenBank Report | RGD, Sept. 2003 |
| 8. | Mutant huntingtin alters cell fate in response to microtubule depolymerization via the GEF-H1-RhoA-ERK pathway. | Varma H, etal., J Biol Chem. 2010 Nov 26;285(48):37445-57. doi: 10.1074/jbc.M110.125542. Epub 2010 Sep 21. |
| PMID:12477932 | PMID:12634853 | PMID:17971419 | PMID:18569527 | PMID:22658674 | PMID:28673614 |
| Arhgef1 (Rattus norvegicus - Norway rat) |
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| ARHGEF1 (Homo sapiens - human) |
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| Arhgef1 (Mus musculus - house mouse) |
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| Arhgef1 (Chinchilla lanigera - long-tailed chinchilla) |
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| ARHGEF1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ARHGEF1 (Canis lupus familiaris - dog) |
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| Arhgef1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ARHGEF1 (Sus scrofa - pig) |
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| ARHGEF1 (Chlorocebus sabaeus - green monkey) |
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| Arhgef1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Arhgef1
49 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 |
| AU047514 |
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| AU047512 |
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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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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 164 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 143 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001440131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001440132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001440133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001440134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_021694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039088933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063272358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063272361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063272364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063272365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063272369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063272371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF314539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AJ236911 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC078338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC091218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000065865 ⟹ ENSRNOP00000059325 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000080143 ⟹ ENSRNOP00000068908 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000080840 ⟹ ENSRNOP00000072904 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000089592 ⟹ ENSRNOP00000073086 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_021694 ⟹ NP_067726 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039088933 ⟹ XP_038944861 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063272358 ⟹ XP_063128428 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063272361 ⟹ XP_063128431 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063272364 ⟹ XP_063128434 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063272365 ⟹ XP_063128435 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063272369 ⟹ XP_063128439 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063272371 ⟹ XP_063128441 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001427060 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001427061 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001427062 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001427063 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_067726 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038944861 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063128428 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063128431 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063128434 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063128435 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063128439 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063128441 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAG33860 | (Get FASTA) | NCBI Sequence Viewer |
| AAH91218 | (Get FASTA) | NCBI Sequence Viewer | |
| CAA15426 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM08058 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM08059 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM08060 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000068908 | ||
| ENSRNOP00000072904 | |||
| GenBank Protein | Q9Z1I6 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_067726 ⟸ NM_021694 |
| - UniProtKB: | Q9Z1I6 (UniProtKB/Swiss-Prot), Q5BK37 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000068908 ⟸ ENSRNOT00000080143 |
| Ensembl Acc Id: | ENSRNOP00000072904 ⟸ ENSRNOT00000080840 |
| Ensembl Acc Id: | ENSRNOP00000073086 ⟸ ENSRNOT00000089592 |
| Ensembl Acc Id: | ENSRNOP00000059325 ⟸ ENSRNOT00000065865 |
| RefSeq Acc Id: | XP_038944861 ⟸ XM_039088933 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063128439 ⟸ XM_063272369 |
| - Peptide Label: | isoform X5 |
| RefSeq Acc Id: | XP_063128441 ⟸ XM_063272371 |
| - Peptide Label: | isoform X6 |
| RefSeq Acc Id: | XP_063128431 ⟸ XM_063272361 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A0G2JU01 (UniProtKB/TrEMBL), E9PTJ8 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063128435 ⟸ XM_063272365 |
| - Peptide Label: | isoform X4 |
| RefSeq Acc Id: | XP_063128428 ⟸ XM_063272358 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063128434 ⟸ XM_063272364 |
| - Peptide Label: | isoform X3 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q9Z1I6-F1-model_v2 | AlphaFold | Q9Z1I6 | 1-919 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:620951 | AgrOrtholog |
| BioCyc Gene | G2FUF-60410 | BioCyc |
| Ensembl Genes | ENSRNOG00000020130 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000080143 | ENTREZGENE |
| ENSRNOT00000080840 | ENTREZGENE | |
| Gene3D-CATH | 1.10.167.10 | UniProtKB/Swiss-Prot |
| 1.20.900.10 | UniProtKB/Swiss-Prot | |
| 2.30.29.30 | UniProtKB/Swiss-Prot | |
| IMAGE_CLONE | IMAGE:7107802 | IMAGE-MGC_LOAD |
| InterPro | DBL_dom_sf | UniProtKB/Swiss-Prot |
| DH-domain | UniProtKB/Swiss-Prot | |
| p115RhoGEF_RGS | UniProtKB/Swiss-Prot | |
| PH-like_dom_sf | UniProtKB/Swiss-Prot | |
| PH_16 | UniProtKB/Swiss-Prot | |
| PH_domain | UniProtKB/Swiss-Prot | |
| RGS-like_dom | UniProtKB/Swiss-Prot | |
| RGS_sf | UniProtKB/Swiss-Prot | |
| RGS_subdomain_2 | UniProtKB/Swiss-Prot | |
| MGC_CLONE | MGC:108950 | IMAGE-MGC_LOAD |
| NCBI Gene | 60323 | ENTREZGENE |
| PANTHER | RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 1 | UniProtKB/Swiss-Prot |
| RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2, ISOFORM D | UniProtKB/Swiss-Prot | |
| Pfam | PH_16 | UniProtKB/Swiss-Prot |
| RGS-like | UniProtKB/Swiss-Prot | |
| RhoGEF | UniProtKB/Swiss-Prot | |
| PhenoGen | Arhgef1 | PhenoGen |
| PROSITE | DH_2 | UniProtKB/Swiss-Prot |
| PH_DOMAIN | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000020130 | RatGTEx |
| SMART | RhoGEF | UniProtKB/Swiss-Prot |
| SM00233 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot |
| SSF48065 | UniProtKB/Swiss-Prot | |
| SSF48097 | UniProtKB/Swiss-Prot | |
| UniProt | A0A0G2JU01 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A0G2K446_RAT | UniProtKB/TrEMBL | |
| ARHG1_RAT | UniProtKB/Swiss-Prot | |
| E9PTJ8 | ENTREZGENE | |
| Q5BK37 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9Z1I6 | ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-11-19 | Arhgef1 | Rho guanine nucleotide exchange factor 1 | Arhgef1 | Rho guanine nucleotide exchange factor (GEF) 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2004-09-10 | Arhgef1 | Rho guanine nucleotide exchange factor (GEF) 1 | Lsc | lsc protein | Symbol and Name updated | 1299863 | APPROVED |
| 2002-08-07 | Lsc | lsc protein | Symbol and Name status set to provisional | 70820 | PROVISIONAL |