Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9922
Gene name Gene Name - the full gene name approved by the HGNC.
IQ motif and Sec7 domain ArfGEF 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IQSEC1
Synonyms (NCBI Gene) Gene synonyms aliases
ARF-GEP100, ARFGEP100, BRAG2, GEP100, IDDSSBA
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.2-p25.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT044004 hsa-miR-378a-5p CLASH 23622248
MIRT040506 hsa-miR-589-3p CLASH 23622248
MIRT038915 hsa-miR-92a-1-5p CLASH 23622248
MIRT649174 hsa-miR-4436b-3p HITS-CLIP 23824327
MIRT649173 hsa-miR-4632-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 27265506, 32814053
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610166 29112 ENSG00000144711
Protein
UniProt ID Q6DN90
Protein name IQ motif and SEC7 domain-containing protein 1 (ADP-ribosylation factors guanine nucleotide-exchange protein 100) (ADP-ribosylation factors guanine nucleotide-exchange protein 2) (Brefeldin-resistant Arf-GEF 2 protein) (BRAG2)
Protein function Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:11226253, PubMed:24058294). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nu
PDB 3QWM , 4C0A , 5NLV , 5NLY , 6FNE , 7VMB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01369 Sec7 524 712 Sec7 domain Domain
PF16453 IQ_SEC7_PH 743 879 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, ovary, heart, lung, liver, kidney and leukocytes. Moderate expression was also detected in lung, skeletal muscle, placenta, small intestine, pancreas, spleen and testis. {ECO:0000269|PubMed:11226253, ECO:0000269|Pub
Sequence
MWCLHCNSERTQSLLELELDSGVEGEAPSSETGTSLDSPSAYPQGPLVPGSSLSPDHYEH
TSVGAYGLYSGPPGQQQRTRRPKLQHSTSILRKQAEEEAIKRSRSLSESYELSSDLQDKQ
VEMLERKYGGRLVTRHAARTIQTAFRQYQMNKNFERLRSSMSENRMSRRIVLSNMRMQFS
FEGPEKVHSSYFEGKQVSVTNDGSQLGALVSPECGDLSEPTTLKSPAPSSDFADAITELE
DAFSRQVKSLAESIDDALNCRSLHTEEAPALDAARARDTEPQTALHGMDHRKLDEMTASY
SDVTLYIDEEELSPPLPLSQAGDRPSSTESDLRLRAGGAAPDYWALAHKEDKADTDTSCR
STPSLERQEQRLRVEHLPLLTIEPPSDSSVDLSDRSERGSLKRQSAYERSLGGQQGSPKH
GPHSGAPKSLPREEPELRPRPPRPLDSHLAINGSANRQSKSESDYSDGDNDSINSTSNSN
DTINCSSESSSRDSLREQTLSKQTYHKEARNSWDSPAFSNDVIRKRHYRIGLNLFNKKPE
KGVQYLIERGFVPDTPVGVAHFLLQRKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFS
TMELDEALRKFQAHIRVQGEAQKVERLIEAFSQRYCICNPGVVRQFRNPDTIFILAFAII
LLNTDMYSPNVKPERKMKLEDFIKNLRGVDDGEDIPREMLMGIYERIRKREL
KTNEDHVS
QVQKVEKLIVGKKPIGSLHPGLGCVLSLPHRRLVCYCRLFEVPDPNKPQKLGLHQREIFL
FNDLLVVTKIFQKKKNSVTYSFRQSFSLYGMQVLLFENQYYPNGIRLTSSVPGADIKVLI
NFNAPNPQDRKKFTDDLRESIAEVQEMEKHRIESELEKQ
KGVVRPSMSQCSSLKKESGNG
TLSRACLDDSYASGEGLKRSALSSSLRDLSEAGKRGRRSSAGSLESNVEFQPFEPLQPSV
LCS
Sequence length 963
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Endocytosis  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual developmental disorder with short stature and behavioral abnormalities rs765723607, rs758170522 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 21966491
Atrophy Associate 33319642
Breast Neoplasms Associate 23747719, 24116160
Carcinoma Hepatocellular Associate 22701712
Carcinoma Non Small Cell Lung Associate 22491060
Carcinoma Squamous Cell Associate 22491060
Epilepsy Associate 37246165
Fibrosis Associate 24516231, 33319642
Glomerulonephritis IGA Associate 33319642
Kidney Neoplasms Associate 24516231