Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Rab3gap1 | Rat | Warburg micro syndrome | | ISO | RAB3GAP1 (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) | Rab3gap1 | Rat | Warburg micro syndrome | | ISO | RAB3GAP1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | 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. |
2. | Neuroligin-1 performs neurexin-dependent and neurexin-independent functions in synapse validation. | Ko J, etal., EMBO J. 2009 Oct 21;28(20):3244-55. doi: 10.1038/emboj.2009.249. Epub 2009 Sep 3. |
3. | Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein. | Nagano F, etal., J Biol Chem. 1998 Sep 18;273(38):24781-5. |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | GOA pipeline | RGD automated data pipeline |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:9030515 | PMID:10859313 | PMID:11809763 | PMID:15057822 | PMID:16782817 | PMID:16923123 | PMID:19056867 | PMID:20512159 | PMID:24239381 | PMID:24891604 | PMID:25495476 |
Rab3gap1 (Rattus norvegicus - Norway rat) |
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RAB3GAP1 (Homo sapiens - human) |
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Rab3gap1 (Mus musculus - house mouse) |
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Rab3gap1 (Chinchilla lanigera - long-tailed chinchilla) |
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RAB3GAP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RAB3GAP1 (Canis lupus familiaris - dog) |
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Rab3gap1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RAB3GAP1 (Sus scrofa - pig) |
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RAB3GAP1 (Chlorocebus sabaeus - green monkey) |
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Rab3gap1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Rab3gap1
444 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D13Hmgc85 |
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AI013755 |
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BF398383 |
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UniSTS:234205 |
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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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nervous system
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renal system
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reproductive system
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respiratory system
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9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
RefSeq Transcripts | NM_001402216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001402314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005492430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_009610 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_339699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_595455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | FQ226620 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
FQ233339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000005289 ⟹ ENSRNOP00000005289 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000082439 ⟹ ENSRNOP00000070191 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000101602 ⟹ ENSRNOP00000087169 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001402216 ⟹ NP_001389145 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001402314 ⟹ NP_001389243 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XR_005492430 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_001389145 | (Get FASTA) | NCBI Sequence Viewer |
NP_001389243 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000005289.8 | ||
ENSRNOP00000070191.2 | |||
ENSRNOP00000087169.1 | |||
GenBank Protein | P69735 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Acc Id: | ENSRNOP00000070191 ⟸ ENSRNOT00000082439 |
Ensembl Acc Id: | ENSRNOP00000005289 ⟸ ENSRNOT00000005289 |
Ensembl Acc Id: | ENSRNOP00000087169 ⟸ ENSRNOT00000101602 |
RefSeq Acc Id: | NP_001389243 ⟸ NM_001402314 |
- Peptide Label: | isoform 1 |
- UniProtKB: | F1LP59 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001389145 ⟸ NM_001402216 |
- Peptide Label: | isoform 2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P69735-F1-model_v2 | AlphaFold | P69735 | 1-775 | 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:1306487 | AgrOrtholog |
BioCyc Gene | G2FUF-18427 | BioCyc |
Ensembl Genes | ENSRNOG00000003953 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000005289.8 | UniProtKB/TrEMBL |
ENSRNOT00000082439.2 | UniProtKB/TrEMBL | |
ENSRNOT00000101602.1 | UniProtKB/TrEMBL | |
InterPro | Rab3-GAP_cat_su | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Rab3GAP1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rab3GAP1_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NCBI Gene | Rab3gap1 | ENTREZGENE |
PANTHER | PTHR21422 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAB3 GTPASE-ACTIVATING PROTEIN CATALYTIC SUBUNIT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Rab3-GAP_cat_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Rab3-GTPase_cat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Rab3gap1 | PhenoGen |
RatGTEx | ENSRNOG00000003953 | RatGTEx |
UniProt | A0A0G2JXA1_RAT | UniProtKB/TrEMBL |
A0A8I6A7Y5_RAT | UniProtKB/TrEMBL | |
F1LP59 | ENTREZGENE, UniProtKB/TrEMBL | |
P69735 | ENTREZGENE, UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-08-24 | Rab3gap1 | RAB3 GTPase activating protein catalytic subunit 1 | Rab3gap1 | RAB3 GTPase activating protein subunit 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2015-12-04 | Rab3gap1 | RAB3 GTPase activating protein subunit 1 | Rab3gap1 | RAB3 GTPase activating protein subunit 1 | Type changed (type changed from [predicted-high] to [protein-coding]) | 629549 | APPROVED |
2014-08-14 | Rab3gap1 | RAB3 GTPase activating protein subunit 1 | RGD1306487 | similar to RAB3 GTPase-activating protein | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | RGD1306487 | similar to RAB3 GTPase-activating protein | RGD1306487_predicted | similar to RAB3 GTPase-activating protein (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-20 | RGD1306487_predicted | similar to RAB3 GTPase-activating protein (predicted) | LOC304759_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
2005-01-12 | LOC304759_predicted | similar to RAB3 GTPase-activating protein (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |