Aliases for ARFGEF1 Gene
Aliases for ARFGEF1 Gene
External Ids for ARFGEF1 Gene
- HGNC: 15772
- Entrez Gene: 10565
- Ensembl: ENSG00000066777
- OMIM: 604141
- UniProtKB: Q9Y6D6
Previous GeneCards Identifiers for ARFGEF1 Gene
- GC08M068272
- GC08M068109
- GC08M063601
- GC08M068085
Summaries for ARFGEF1 Gene
-
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
GeneCards Summary for ARFGEF1 Gene
ARFGEF1 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with ARFGEF1 include Hypertrophy Of Breast and Joubert Syndrome 21. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARFGEF2.
UniProtKB/Swiss-Prot for ARFGEF1 Gene
-
Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined.
Additional gene information for ARFGEF1 Gene
- Monarch Initiative
- Search for ARFGEF1 at DataMed
- Search for ARFGEF1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARFGEF1 Gene
Genomics for ARFGEF1 Gene
GeneHancer (GH) Regulatory Elements for ARFGEF1 Gene
Promoters and enhancers for ARFGEF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ARFGEF1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ARFGEF1 gene promoter:
-
- Pax-3
- LCR-F1
- GATA-2
- XBP-1
- AP-4
- p300
- Pbx1a
- GATA-1
- AhR
Regulatory Element Products
Genomic Locations for ARFGEF1 Gene
Genomic Locations for ARFGEF1 Gene
- chr8:67,173,511-67,343,897
- (GRCh38/hg38)
- Size:
- 170,387 bases
- Orientation:
- Minus strand
- chr8:68,085,747-68,255,912
- (GRCh37/hg19)
- Size:
- 170,166 bases
- Orientation:
- Minus strand
Genomic View for ARFGEF1 Gene
Genes around ARFGEF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q13.2 by Entrez Gene
- 8q13.2 by HGNC
- 8q13.2 by Ensembl
ARFGEF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ARFGEF1 Gene
Proteins for ARFGEF1 Gene
-
Protein details for ARFGEF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y6D6-BIG1_HUMAN
- Recommended name:
- Brefeldin A-inhibited guanine nucleotide-exchange protein 1
- Protein Accession:
- Q9Y6D6
- Q9NV46
- Q9UFV2
- Q9UNL0
Protein attributes for ARFGEF1 Gene
- Size:
- 1849 amino acids
- Molecular mass:
- 208767 Da
- Quaternary structure:
-
- Homodimer (PubMed:17640864). Interacts with ARFGEF2/BIG2; both proteins are probably part of the same or very similar macromolecular complexes (PubMed:10716990). Interacts with FKBP2 (PubMed:12606707). Interacts with MYO9B (PubMed:15644318). Interacts with PRKAR1A and PRKAR2A (PubMed:12571360). Interacts with PPP1CC (PubMed:17360629). Interacts with NCL, FBL, NUP62 and U3 small nucleolar RNA (PubMed:14973189, PubMed:18292223). Interacts with DPY30 (PubMed:19651892). Interacts with PDE3A (PubMed:19332778). Interacts with KANK1 (PubMed:22084092). Interacts with TBC1D22A and TBC1D22B (PubMed:23572552).
Protein Expression for ARFGEF1 Gene
Post-translational modifications for ARFGEF1 Gene
- Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.
- Ubiquitination at Lys1694
- Modification sites at PhosphoSitePlus
Other Protein References for ARFGEF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ARFGEF1
- Novus Biologicals Antibodies for ARFGEF1
-
Abcam antibodies for ARFGEF1
- Invitrogen Antibodies for ARFGEF1 (AFLGC-ARFGEF1)
- Search GeneTex for Antibodies for ARFGEF1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ARFGEF1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ARFGEF1
- Origene Custom Protein Services for ARFGEF1
- Novus Biologicals proteins for ARFGEF1
- GeneTex Proteins for ARFGEF1
-
Abcam proteins for ARFGEF1
Assay Products
No data available for DME Specific Peptides for ARFGEF1 Gene
Domains & Families for ARFGEF1 Gene
Gene Families for ARFGEF1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ARFGEF1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ARFGEF1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ARFGEF1 Gene
Function for ARFGEF1 Gene
Molecular function for ARFGEF1 Gene
- UniProtKB/Swiss-Prot Function:
- Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by brefeldin A.
Phenotypes From GWAS Catalog for ARFGEF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IEA,IDA | 15644318 |
| GO:0005086 | ARF guanyl-nucleotide exchange factor activity | IBA | -- |
| GO:0005096 | NOT GTPase activator activity | IDA | 15644318 |
| GO:0005488 | binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 10716990 |
Phenotypes for ARFGEF1 Gene
- MGI mutant phenotypes for ARFGEF1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ARFGEF1:
-
- Moderately decreased NFAT1-GFP nuclear translocation
- Downregulation of Wnt pathway after Wnt3A stimulation
- Decreased viability
- Increased viability with neratinib
- no effect
- Increased gamma-H2AX phosphorylation
- Increased transferrin (TF) endocytosis
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ARFGEF1
-
CRISPR Products
-
OriGene CRISPR knockouts for ARFGEF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARFGEF1
- genomics-online: gRNA clones - Search results for 43 available ARFGEF1 gene related products
- Overview of 43 available ARFGEF1 gene related products
- Applied Biological Materials CRISPR for ARFGEF1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARFGEF1
- GenScript: Design CRISPR guide RNA sequences for ARFGEF1
miRNA for ARFGEF1 Gene
- miRTarBase miRNAs that target ARFGEF1
-
- hsa-mir-215-5p (MIRT024514)
- hsa-mir-192-5p (MIRT026910)
- hsa-mir-877-3p (MIRT037025)
- hsa-mir-125a-3p (MIRT038638)
- hsa-mir-10b-5p (MIRT047437)
- hsa-mir-10a-5p (MIRT047646)
- hsa-mir-19a-3p (MIRT402567)
- hsa-mir-19b-3p (MIRT402568)
- hsa-mir-3692-3p (MIRT442535)
- hsa-mir-6727-3p (MIRT442536)
- hsa-mir-4722-3p (MIRT442537)
- hsa-mir-1228-3p (MIRT442538)
- hsa-mir-424-3p (MIRT442539)
- hsa-mir-27b-5p (MIRT732798)
- hsa-mir-1254 (MIRT761637)
- hsa-mir-3116 (MIRT764753)
- hsa-mir-3690 (MIRT767114)
- hsa-mir-4638-3p (MIRT770512)
- hsa-mir-4793-3p (MIRT772362)
- hsa-mir-4797-5p (MIRT772506)
- hsa-mir-508-5p (MIRT773120)
- hsa-mir-5586-3p (MIRT774747)
- hsa-mir-6512-3p (MIRT776875)
- hsa-mir-6720-5p (MIRT777721)
- hsa-mir-6849-3p (MIRT780244)
- hsa-mir-759 (MIRT781744)
- hsa-mir-7703 (MIRT781977)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARFGEF1
- Browse OriGene Inhibitory RNA Products For ARFGEF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARFGEF1
- genomics-online: shRNA clones - Search results for 43 available ARFGEF1 gene related products
- Overview of 43 available ARFGEF1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ARFGEF1
- Addgene plasmids for ARFGEF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARFGEF1
- Applied Biological Materials Clones for ARFGEF1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ARFGEF1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARFGEF1 Gene
Localization for ARFGEF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ARFGEF1 Gene
- Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network. Nucleus. Nucleus, nucleolus. Nucleus matrix. Membrane. Note=Translocates from cytoplasm to membranes and nucleus upon cAMP treatment.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (4)
- Golgi apparatus (4)
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IDA | 10716990 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005730 | nucleolus | IDA,IEA | 14973189 |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for ARFGEF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Endocytosis | ||
Pathways by source for ARFGEF1 Gene
1 KEGG pathway for ARFGEF1 Gene
Interacting Proteins for ARFGEF1 Gene
Selected Interacting proteins:
ENSP00000262215
Q9Y6D6-BIG1_HUMAN
for ARFGEF1 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for ARFGEF1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006887 | exocytosis | TAS | 10212200 |
| GO:0007030 | Golgi organization | IMP | 17227842 |
| GO:0010256 | endomembrane system organization | IMP | 20360857 |
| GO:0015031 | protein transport | IEA | -- |
| GO:0016192 | vesicle-mediated transport | IBA | -- |
No data available for SIGNOR curated interactions for ARFGEF1 Gene
Drugs & Compounds for ARFGEF1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for ARFGEF1 Gene
mRNA/cDNA for ARFGEF1 Gene
- (4) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (38) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000520381 5882 bps (uc284qjp.1)
- ENST00000518789 646 bps (uc064nmc.2)
- ENST00000262215 7225 bps (uc003xxo.2)
- ENST00000518290 3179 bps (uc003xxp.2)
- ENST00000517955 1235 bps (uc064nmd.1)
Unigene Clusters for ARFGEF1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ARFGEF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARFGEF1
- genomics-online: gRNA clones - Search results for 43 available ARFGEF1 gene related products
- Overview of 43 available ARFGEF1 gene related products
- Applied Biological Materials CRISPR for ARFGEF1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARFGEF1
- GenScript: Design CRISPR guide RNA sequences for ARFGEF1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARFGEF1
- Browse OriGene Inhibitory RNA Products For ARFGEF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARFGEF1
- genomics-online: shRNA clones - Search results for 43 available ARFGEF1 gene related products
- Overview of 43 available ARFGEF1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ARFGEF1
- Addgene plasmids for ARFGEF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARFGEF1
- Applied Biological Materials Clones for ARFGEF1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
| ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33 | ^ | 34a | · | 34b | · | 34c | · | 34d | ^ | 35a | · | 35b | ^ | 36a | · | 36b | · | 36c | ^ | 37a | · | 37b | ^ | 38a | · | 38b | · | 38c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
Expression for ARFGEF1 Gene
This gene is overexpressed in Bone (24.8), Nasal epithelium (10.6), and Peripheral blood mononuclear cells (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARFGEF1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ARFGEF1 Gene:
ARFGEF1SOURCE GeneReport for Unigene cluster for ARFGEF1 Gene:
Hs.656902mRNA Expression by UniProt/SwissProt for ARFGEF1 Gene:
Q9Y6D6-BIG1_HUMAN
Tissue specificity:
Expressed in placenta, lung, heart, brain, kidney and pancreas.
Evidence on tissue expression from TISSUES for ARFGEF1 Gene
- Nervous system(4.4)
- Liver(4.3)
Primer Products
-
OriGene qPCR primer pairs for ARFGEF1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARFGEF1 Gene
Orthologs for ARFGEF1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ARFGEF1 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ARFGEF1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ARFGEF1 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ARFGEF1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ARFGEF1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Arfgef1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Arfgef1 33 |
|
||
| chicken (Gallus gallus) |
Aves | ARFGEF1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ARFGEF1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | arfgef1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | arfgef1 34 33 |
|
OneToOne | |
| wufj64h08 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008906 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sec71 34 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | agef-1 34 33 |
|
ManyToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SEC7 34 33 |
|
OneToMany | |
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D17358g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGL147C 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT3G60860 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0246800 33 |
|
||
| Os.10527 33 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | sec72 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU07658 33 |
|
- Species where no ortholog for ARFGEF1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for ARFGEF1 Gene
- ENSEMBL:
- Gene Tree for ARFGEF1 (if available)
- TreeFam:
- Gene Tree for ARFGEF1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ARFGEF1: view image
Paralogs for ARFGEF1 Gene
Paralogs for ARFGEF1 Gene
(8) SIMAP similar genes for ARFGEF1 Gene using alignment to 6 proteins:
- BIG1_HUMAN
- E5RHL7_HUMAN
- E5RHZ1_HUMAN
- E5RIF2_HUMAN
- E5RJB2_HUMAN
- E5RJN9_HUMAN
Variants for ARFGEF1 Gene
| SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1808140 | benign, not specified, Joubert syndrome 21 | 67,190,742(-) | T/C | genic_downstream_transcript_variant, intron_variant | |
| rs200161440 | likely-benign, benign, not specified, Joubert syndrome 21 | 67,195,405(-) | C/T | genic_downstream_transcript_variant, intron_variant | |
| rs587777141 | pathogenic, Joubert syndrome 21 | 67,190,656(-) | A/AA | genic_downstream_transcript_variant, intron_variant | |
| rs76567936 | benign, not specified, Joubert syndrome 21 | 67,177,708(-) | A/G | genic_downstream_transcript_variant, intron_variant | |
| rs773954226 | pathogenic, Joubert syndrome 21 | 67,179,927(-) | G/A/T | genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1291e199 | CNV | deletion | 23128226 |
| dgv7235n100 | CNV | gain | 25217958 |
| esv23466 | CNV | loss | 19812545 |
| esv2578987 | CNV | deletion | 19546169 |
| esv2664076 | CNV | deletion | 23128226 |
| esv2737121 | CNV | deletion | 23290073 |
| esv2752263 | CNV | gain | 17911159 |
| esv2752264 | CNV | gain | 17911159 |
| esv3415927 | CNV | insertion | 20981092 |
| esv3543610 | CNV | deletion | 23714750 |
| esv3576581 | CNV | gain | 25503493 |
| esv3617497 | CNV | loss | 21293372 |
| esv3617499 | CNV | loss | 21293372 |
| esv3617500 | CNV | loss | 21293372 |
| esv3891407 | CNV | gain | 25118596 |
| esv7037 | CNV | gain | 19470904 |
Residual Variation Intolerance Score:
1.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.66;
56.98% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ARFGEF1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFGEF1 Gene
Disorders for ARFGEF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypertrophy of breast |
|
|
| joubert syndrome 21 |
|
|
Search ARFGEF1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ARFGEF1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ARFGEF1 Gene
Publications for ARFGEF1 Gene
- Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. (PMID: 10212200) Togawa A … Vaughan M (The Journal of biological chemistry 1999) 2 3 4 22 58
- Interaction of phosphodiesterase 3A with brefeldin A-inhibited guanine nucleotide-exchange proteins BIG1 and BIG2 and effect on ARF1 activity. (PMID: 19332778) Puxeddu E … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 58
- Association of guanine nucleotide-exchange protein BIG1 in HepG2 cell nuclei with nucleolin, U3 snoRNA, and fibrillarin. (PMID: 18292223) Padilla PI … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 22 58
- Regulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) and BIG2 activity via PKA and protein phosphatase 1gamma. (PMID: 17360629) Kuroda F … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58
- Effect of protein kinase A on accumulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) in HepG2 cell nuclei. (PMID: 16467138) Citterio C … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 58
Products for ARFGEF1 Gene
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Sources for ARFGEF1 Gene
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