• Gene id: 9922

Gene Summary

• Gene Symbol: IQSEC1   Gene   UCSC   Ensembl
• Aliases: ARF-GEP100, ARFGEP100, BRAG2, GEP100, IDDSSBA
• Gene name: IQ motif and Sec7 domain ArfGEF 1
• Alternate names: IQ motif and SEC7 domain-containing protein 1, ADP-ribosylation factors guanine nucleotide-exchange protein 100, ADP-ribosylation factors guanine nucleotide-exchange protein 2, IQ motif and Sec7 domain 1, brefeldin A-resistant ARF-GEF2, brefeldin-resistant Arf,
• Gene location: 3p25.2-p25.1 (13283256: 12897042)     Exons: 24     NC_000003.12
• OMIM: 610166

Protein Summary

• Protein general information: Q6DN90  
  • 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)
  • Length: 963  
  • Mass: 108314
  • 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
• Sequence:

  MWCLHCNSERTQSLLELELDSGVEGEAPSSETGTSLDSPSAYPQGPLVPGSSLSPDHYEHTSVGAYGLYSGPPGQ
  QQRTRRPKLQHSTSILRKQAEEEAIKRSRSLSESYELSSDLQDKQVEMLERKYGGRLVTRHAARTIQTAFRQYQM
  NKNFERLRSSMSENRMSRRIVLSNMRMQFSFEGPEKVHSSYFEGKQVSVTNDGSQLGALVSPECGDLSEPTTLKS
  PAPSSDFADAITELEDAFSRQVKSLAESIDDALNCRSLHTEEAPALDAARARDTEPQTALHGMDHRKLDEMTASY
  SDVTLYIDEEELSPPLPLSQAGDRPSSTESDLRLRAGGAAPDYWALAHKEDKADTDTSCRSTPSLERQEQRLRVE
  HLPLLTIEPPSDSSVDLSDRSERGSLKRQSAYERSLGGQQGSPKHGPHSGAPKSLPREEPELRPRPPRPLDSHLA
  INGSANRQSKSESDYSDGDNDSINSTSNSNDTINCSSESSSRDSLREQTLSKQTYHKEARNSWDSPAFSNDVIRK
  RHYRIGLNLFNKKPEKGVQYLIERGFVPDTPVGVAHFLLQRKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFS
  TMELDEALRKFQAHIRVQGEAQKVERLIEAFSQRYCICNPGVVRQFRNPDTIFILAFAIILLNTDMYSPNVKPER
  KMKLEDFIKNLRGVDDGEDIPREMLMGIYERIRKRELKTNEDHVSQVQKVEKLIVGKKPIGSLHPGLGCVLSLPH
  RRLVCYCRLFEVPDPNKPQKLGLHQREIFLFNDLLVVTKIFQKKKNSVTYSFRQSFSLYGMQVLLFENQYYPNGI
  RLTSSVPGADIKVLINFNAPNPQDRKKFTDDLRESIAEVQEMEKHRIESELEKQKGVVRPSMSQCSSLKKESGNG
  TLSRACLDDSYASGEGLKRSALSSSLRDLSEAGKRGRRSSAGSLESNVEFQPFEPLQPSVLCS

• Structural information:
  • Protein Domains: (134..16-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (517..71-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189-)
    (774..86-)
    (/note="PH"-)
  • Interpro: IPR000048  IPR030737  IPR033742  IPR011993  IPR001849   IPR023394  IPR000904  IPR035999  
  • Prosite: PS50096 PS50190
  • CDD: cd13318 cd00171
  • PDB: 3QWM 4C0A 5NLV 5NLY 6FNE
  • PDBsum: 3QWM 4C0A 5NLV 5NLY 6FNE
  • STRING: ENSP00000480301
• Other Databases: GeneCards:  IQSEC1  Malacards:  IQSEC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0120183	positive regulation of focal adhesion disassembly	ISS	biological process
GO:0051549	positive regulation of keratinocyte migration	ISS	biological process
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0060996	dendritic spine development	ISS	biological process
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0032012	regulation of ARF protein signal transduction	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray