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Aliases for ARFGEF3 Gene

Aliases for ARFGEF3 Gene

  • ARFGEF Family Member 3 2 3 4 5
  • KIAA1244 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 33 2 3
  • C6orf92 3 4
  • BIG3 3 4
  • Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 3 3
  • Chromosome 6 Open Reading Frame 92 2
  • DJ171N11.1 3
  • PPP1R33 3
  • A7322 3

External Ids for ARFGEF3 Gene

Previous HGNC Symbols for ARFGEF3 Gene

  • C6orf92
  • KIAA1244

Summaries for ARFGEF3 Gene

GeneCards Summary for ARFGEF3 Gene

ARFGEF3 (ARFGEF Family Member 3) is a Protein Coding gene. GO annotations related to this gene include binding and ARF guanyl-nucleotide exchange factor activity.

UniProtKB/Swiss-Prot for ARFGEF3 Gene

  • Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells (By similarity). Also regulates glucagon granule production in pancreatic alpha cells (By similarity). Inhibits nuclear translocation of the transcriptional coregulator PHB2 and may enhance estrogen receptor alpha (ESR1) transcriptional activity in breast cancer cells (PubMed:19496786).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARFGEF3 Gene

Genomics for ARFGEF3 Gene

Regulatory Elements for ARFGEF3 Gene

Enhancers for ARFGEF3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F138182 0.7 ENCODE 9.5 +21.3 21279 1.7 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 NFYC MXD4 PBOV1 PERP ARFGEF3
GH06F138230 0.8 Ensembl ENCODE 6.3 +70.1 70137 2.6 ELF3 ATF1 ZNF48 RARA SLC30A9 FOS CREM MIXL1 THAP11 PPARG ARFGEF3 PBOV1 GC06P138340
GH06F138226 0.5 ENCODE 6.3 +65.2 65237 2.3 ELF3 TBP PKNOX1 MLX ARID4B THRB RAD21 ZNF48 RARA CREM ARFGEF3 HEBP2 PBOV1 GC06P138340
GH06F138257 0.4 ENCODE 5.8 +96.6 96616 2.2 ELF3 MLX ARID4B DMAP1 RARA CREM MIXL1 MIER2 PPARG MIER3 PBOV1 ARFGEF3 GC06P138340
GH06F137215 0.8 ENCODE 5.2 -943.8 -943784 5.7 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 MAP7 ARFGEF3 IFNGR1 GC06P137209
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ARFGEF3 on UCSC Golden Path with GeneCards custom track

Promoters for ARFGEF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001228551 184 1401 ELF3 ZNF76 ZNF48 RARA GLIS2 SCRT2 EGR2 PAF1 REST ZEB2

Genomic Location for ARFGEF3 Gene

Chromosome:
6
Start:
138,161,916 bp from pter
End:
138,344,663 bp from pter
Size:
182,748 bases
Orientation:
Plus strand

Genomic View for ARFGEF3 Gene

Genes around ARFGEF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARFGEF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARFGEF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARFGEF3 Gene

Proteins for ARFGEF3 Gene

  • Protein details for ARFGEF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TH69-BIG3_HUMAN
    Recommended name:
    Brefeldin A-inhibited guanine nucleotide-exchange protein 3
    Protein Accession:
    Q5TH69
    Secondary Accessions:
    • C5NM88
    • Q76MU8
    • Q8N4Y4
    • Q96CH9
    • Q96P46
    • Q9ULH6

    Protein attributes for ARFGEF3 Gene

    Size:
    2177 amino acids
    Molecular mass:
    240652 Da
    Quaternary structure:
    • Interacts with PHB2.

neXtProt entry for ARFGEF3 Gene

Post-translational modifications for ARFGEF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARFGEF3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARFGEF3 Gene

Domains & Families for ARFGEF3 Gene

Gene Families for ARFGEF3 Gene

Protein Domains for ARFGEF3 Gene

Suggested Antigen Peptide Sequences for ARFGEF3 Gene

Graphical View of Domain Structure for InterPro Entry

Q5TH69

UniProtKB/Swiss-Prot:

BIG3_HUMAN :
  • Contains 1 SEC7 domain.
Domain:
  • Contains 1 SEC7 domain.
genes like me logo Genes that share domains with ARFGEF3: view

Function for ARFGEF3 Gene

Molecular function for ARFGEF3 Gene

UniProtKB/Swiss-Prot Function:
Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells (By similarity). Also regulates glucagon granule production in pancreatic alpha cells (By similarity). Inhibits nuclear translocation of the transcriptional coregulator PHB2 and may enhance estrogen receptor alpha (ESR1) transcriptional activity in breast cancer cells (PubMed:19496786).

Gene Ontology (GO) - Molecular Function for ARFGEF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with ARFGEF3: view
genes like me logo Genes that share phenotypes with ARFGEF3: view

Animal Models for ARFGEF3 Gene

MGI Knock Outs for ARFGEF3:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARFGEF3 Gene

Localization for ARFGEF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARFGEF3 Gene

Cytoplasm. Cytoplasmic vesicle, secretory vesicle. Cytoplasmic vesicle, secretory vesicle membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for ARFGEF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030133 transport vesicle IEA --
GO:0030658 transport vesicle membrane IEA --
genes like me logo Genes that share ontologies with ARFGEF3: view

No data available for Subcellular locations from COMPARTMENTS for ARFGEF3 Gene

Pathways & Interactions for ARFGEF3 Gene

SuperPathways for ARFGEF3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARFGEF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0032012 regulation of ARF protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARFGEF3: view

No data available for Pathways by source and SIGNOR curated interactions for ARFGEF3 Gene

Transcripts for ARFGEF3 Gene

mRNA/cDNA for ARFGEF3 Gene

(1) REFSEQ mRNAs :
(159) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARFGEF3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - -
SP2: - -
SP3:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30
SP1:
SP2:
SP3:

Relevant External Links for ARFGEF3 Gene

GeneLoc Exon Structure for
ARFGEF3
ECgene alternative splicing isoforms for
ARFGEF3

Expression for ARFGEF3 Gene

mRNA expression in normal human tissues for ARFGEF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARFGEF3 Gene

This gene is overexpressed in Salivary gland (15.4), Cervix (10.4), Islet of Langerhans (10.1), Pancreas (8.1), and Lung (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARFGEF3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ARFGEF3 Gene:

ARFGEF3

mRNA Expression by UniProt/SwissProt for ARFGEF3 Gene:

Q5TH69-BIG3_HUMAN
Tissue specificity: Expressed in breast cancer cell lines. Not expressed in normal tissues such as duct, mammary gland, lung, heart, liver, kidnay, bone marrow.
genes like me logo Genes that share expression patterns with ARFGEF3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ARFGEF3 Gene

Orthologs for ARFGEF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARFGEF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1244 34 35
  • 99.6 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1244 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1244 34 35
  • 88.86 (n)
dog
(Canis familiaris)
Mammalia KIAA1244 34 35
  • 88.56 (n)
mouse
(Mus musculus)
Mammalia D10Bwg1379e 34 35
  • 86.54 (n)
Arfgef3 16
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1244 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1244 34 35
  • 77.73 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1244 35
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii KIAA1244 (1 of 2) 35
  • 77 (a)
OneToMany
si:ch211-71k24.5 35
  • 73 (a)
OneToMany
LOC562652 34
  • 69.32 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000635 34
  • 46.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5937 34 35
  • 45.85 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y106G6G.2 34
  • 41.79 (n)
Y106G6G.2 35
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToOne
Species where no ortholog for ARFGEF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ARFGEF3 Gene

ENSEMBL:
Gene Tree for ARFGEF3 (if available)
TreeFam:
Gene Tree for ARFGEF3 (if available)

Paralogs for ARFGEF3 Gene

(2) SIMAP similar genes for ARFGEF3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ARFGEF3: view

No data available for Paralogs for ARFGEF3 Gene

Variants for ARFGEF3 Gene

Sequence variations from dbSNP and Humsavar for ARFGEF3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1008205 -- 138,190,273(-) TATGG(G/T)AGCTG intron-variant
rs1008206 -- 138,188,701(-) AATGT(C/T)GTGTT intron-variant
rs1013054 -- 138,175,557(+) AAGCC(A/C)ACTCA intron-variant
rs10214764 -- 138,190,170(+) GATTT(C/T)GCAAG intron-variant
rs10541342 -- 138,319,258(+) GCTCT(-/AACA)AACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARFGEF3 Gene

Variant ID Type Subtype PubMed ID
esv2088282 CNV deletion 18987734
esv2672652 CNV deletion 23128226
esv2676513 CNV deletion 23128226
esv2732767 CNV deletion 23290073
esv2732768 CNV deletion 23290073
esv275052 CNV gain+loss 21479260
esv275212 CNV gain+loss 21479260
esv3610951 CNV loss 21293372
esv3610952 CNV loss 21293372
esv3610953 CNV loss 21293372
esv3610954 CNV loss 21293372
nsv5496 CNV deletion 18451855
nsv5497 CNV insertion 18451855
nsv823847 CNV gain 20364138

Variation tolerance for ARFGEF3 Gene

Residual Variation Intolerance Score: 1.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.55; 88.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARFGEF3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARFGEF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFGEF3 Gene

Disorders for ARFGEF3 Gene

Relevant External Links for ARFGEF3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARFGEF3

No disorders were found for ARFGEF3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARFGEF3 Gene

Publications for ARFGEF3 Gene

  1. Activation of an estrogen/estrogen receptor signaling by BIG3 through its inhibitory effect on nuclear transport of PHB2/REA in breast cancer. (PMID: 19496786) Kim J.W. … Katagiri T. (Cancer Sci. 2009) 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 3 4 64
  3. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for ARFGEF3 Gene

Sources for ARFGEF3 Gene

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