Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | | ISO | ARFGEF1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | | ISO | ARFGEF1 (Homo sapiens) | 7240710 | | OMIM | | |
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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. | GOA pipeline | RGD automated data pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | BIG1 is a binding partner of myosin IXb and regulates its Rho-GTPase activating protein activity. | Saeki N, etal., J Biol Chem. 2005 Mar 18;280(11):10128-34. Epub 2005 Jan 11. |
6. | Localization of large ADP-ribosylation factor-guanine nucleotide exchange factors to different Golgi compartments: evidence for distinct functions in protein traffic. | Zhao X, etal., Mol Biol Cell. 2002 Jan;13(1):119-33. |
7. | BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein regulates neurite development via PI3K-AKT and ERK signaling pathways. | Zhou C, etal., Neuroscience. 2013 Dec 19;254:361-8. doi: 10.1016/j.neuroscience.2013.09.045. Epub 2013 Oct 1. |
PMID:10716990 | PMID:12571360 | PMID:14973189 | PMID:17227842 | PMID:18292223 | PMID:20360857 | PMID:22084092 | PMID:22871113 | PMID:23220274 | PMID:24198228 |
Arfgef1 (Rattus norvegicus - Norway rat) |
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ARFGEF1 (Homo sapiens - human) |
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Arfgef1 (Mus musculus - house mouse) |
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Arfgef1 (Chinchilla lanigera - long-tailed chinchilla) |
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ARFGEF1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ARFGEF1 (Canis lupus familiaris - dog) |
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Arfgef1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ARFGEF1 (Sus scrofa - pig) |
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ARFGEF1 (Chlorocebus sabaeus - green monkey) |
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Arfgef1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Arfgef1
428 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 |
BE114642 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 40 | 52 | 36 | 19 | 36 | 8 | 10 | 74 | 35 | 41 | 11 | 8 |
Low | 3 | 5 | 5 | 5 | 1 | ||||||||
Below cutoff |
RefSeq Transcripts | NM_001277056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_017593322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063287518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
FQ218854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ222106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000007766 ⟹ ENSRNOP00000007766 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000095352 ⟹ ENSRNOP00000089172 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000110006 ⟹ ENSRNOP00000076394 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001277056 ⟹ NP_001263985 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017593322 ⟹ XP_017448811 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_063287518 ⟹ XP_063143588 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001263985 | (Get FASTA) | NCBI Sequence Viewer |
XP_017448811 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063143588 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | D4A631 | (Get FASTA) | NCBI Sequence Viewer |
EDM11544 | (Get FASTA) | NCBI Sequence Viewer | |
EDM11545 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000007766 | ||
ENSRNOP00000007766.6 | |||
ENSRNOP00000076394.1 | |||
ENSRNOP00000089172 | |||
ENSRNOP00000089172.1 | |||
ENSRNOP00055023816 | |||
ENSRNOP00060013279 | |||
ENSRNOP00065023672 |
RefSeq Acc Id: | NP_001263985 ⟸ NM_001277056 |
- UniProtKB: | D4A631 (UniProtKB/Swiss-Prot), A0A8I6GGZ4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017448811 ⟸ XM_017593322 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8L2Q3C5 (UniProtKB/TrEMBL), A0A8I6GGZ4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000007766 ⟸ ENSRNOT00000007766 |
RefSeq Acc Id: | ENSRNOP00000089172 ⟸ ENSRNOT00000095352 |
RefSeq Acc Id: | ENSRNOP00000076394 ⟸ ENSRNOT00000110006 |
RefSeq Acc Id: | XP_063143588 ⟸ XM_063287518 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D4A631-F1-model_v2 | AlphaFold | D4A631 | 1-1846 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13693533 | ||||||||
Promoter ID: | EPDNEW_R4058 | ||||||||
Type: | single initiation site | ||||||||
Name: | Arfgef1_1 | ||||||||
Description: | ADP ribosylation factor guanine nucleotide exchange factor 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:1560793 | AgrOrtholog |
BioCyc Gene | G2FUF-42212 | BioCyc |
Ensembl Genes | ENSRNOG00000005703 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSRNOG00055017515 | UniProtKB/Swiss-Prot | |
ENSRNOG00060009967 | UniProtKB/Swiss-Prot | |
ENSRNOG00065017598 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000007766.8 | UniProtKB/TrEMBL |
ENSRNOT00000095352 | ENTREZGENE | |
ENSRNOT00000095352.1 | UniProtKB/TrEMBL | |
ENSRNOT00000110006.1 | UniProtKB/TrEMBL | |
ENSRNOT00055029654 | UniProtKB/Swiss-Prot | |
ENSRNOT00060017074 | UniProtKB/Swiss-Prot | |
ENSRNOT00065029809 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.1000.11 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.10.220.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | ARM-type_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DCB_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7/BIG1-like_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:312915 | UniProtKB/Swiss-Prot |
NCBI Gene | 312915 | ENTREZGENE |
PANTHER | BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE-EXCHANGE PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GUANYL-NUCLEOTIDE EXCHANGE FACTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BIG2_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DCB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DUF1981 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Arfgef1 | PhenoGen |
PROSITE | SEC7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000005703 | RatGTEx |
ENSRNOG00055017515 | RatGTEx | |
ENSRNOG00060009967 | RatGTEx | |
ENSRNOG00065017598 | RatGTEx | |
SMART | Sec7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48371 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48425 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8I5Y4E2_RAT | UniProtKB/TrEMBL |
A0A8I6GGZ4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8L2Q3C5 | ENTREZGENE, UniProtKB/TrEMBL | |
BIG1_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-25 | Arfgef1 | ADP ribosylation factor guanine nucleotide exchange factor 1 | Arfgef1 | ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | Arfgef1 | ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) | Arfgef1_predicted | ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2006-03-30 | Arfgef1_predicted | ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) (predicted) | RGD1560793_predicted | similar to brefeldin A-inhibited guanine nucleotide-exchange protein 1 (predicted) | Symbol and Name updated | 1299863 | APPROVED |
2006-03-07 | RGD1560793_predicted | similar to brefeldin A-inhibited guanine nucleotide-exchange protein 1 (predicted) | LOC312915 | similar to brefeldin A-inhibited guanine nucleotide-exchange protein 1 | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC312915 | similar to brefeldin A-inhibited guanine nucleotide-exchange protein 1 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |