Gene Gene information from NCBI Gene database.
Entrez ID 9922
Gene name IQ motif and Sec7 domain ArfGEF 1
Gene symbol IQSEC1
Synonyms (NCBI Gene)
ARF-GEP100ARFGEP100BRAG2GEP100IDDSSBA
Chromosome 3
Chromosome location 3p25.2-p25.1
miRNA miRNA information provided by mirtarbase database.
409
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610166 29112 ENSG00000144711
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder with short stature and behavioral abnormalities Pathogenic; Likely pathogenic rs765723607, rs758170522 RCV000860023
RCV000860024
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21966491
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 33319642 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 18084281, 23747719
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23747719, 24116160 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 22701712 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 22491060 Associate
★☆☆☆☆
Found in Text Mining only
Ductal Carcinoma Ductal Carcinoma BEFREE 18084281
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism BEFREE 31607425
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism GENOMICS_ENGLAND_DG 31607425
★☆☆☆☆
Found in Text Mining only