• Gene id: 440073

Gene Summary

• Gene Symbol: IQSEC3   Gene   UCSC   Ensembl
• Gene name: IQ motif and Sec7 domain ArfGEF 3
• Alternate names: IQ motif and SEC7 domain-containing protein 3, IQ motif and Sec7 domain 3,
• Gene location: 12p13.33 (66766: 178454)     Exons: 28     NC_000012.12
• OMIM: 612118

Protein Summary

• Protein general information: Q9UPP2  
  • Name: IQ motif and SEC7 domain containing protein 3
  • Length: 1182  
  • Mass: 127621
  • Tissue specificity: Expressed specifically in the adult brain, predominantly in the cerebral cortex and the olfactory bulb, but not in the fetal brain. Expressed only in mature neurons, but not in undifferentiated neural stem precursor cells (NSPCs), nor
• Sequence:

  MESLLENPVRAVLYLKELTAIVQNQQSLIHTQRERIDELERRLDELSAENRSLWEHQQLLQAQPPPGLVPPSSAP
  LPAAPATAPAAAARAQEPLQDQGQRSAAAPHPAPDRPPRQHHGQLLEQPQRGPGSRAHTPQSPHKHLGTQGAVTD
  KEKERPPSCCAAAGALLQHKSPSALGKGVLSRRPENETVLHQFCCPAADACSDLASQSDGSCTQAGGGMEDSVVA
  AAAVAAGRPSAHAPKAQAQELQEEEERPGAGAASPRAGPQHKASPGRQQPALATALCPHAPAASDYELSLDLKNK
  QIEMLEHKYGGHLVSRRAACTIQTAFRQYQLSKNFEKIRNSLLESRLPRRISLRKVRSPTAESLAAEKALMEGYG
  LVGLPLVRSPSLPPTFAGTLTELEDSFTEQVQSLAKSIDDALSTWSLKTMCSLRESGAYQLHQALQAAAGPPGLE
  AEGRAPESAGPGPGDDAAETPGLPPAHSGTLMMAFRDVTVQIANQNISVSSSTALSVANCLGAQTVQAPAEPAAG
  KAEQGETSGREAPEAPAVGREDASAEDSCAEAAASGAADGATAPKTEEEEEEEETAEVGRGAEAEAGDLEQLSSS
  STSTKSAKSGSEASASASKDALQAMILSLPRYHCENPASCKSPTLSTDTLRKRLYRIGLNLFNINPDKGIQFLIS
  RGFIPDTPIGVAHFLLQRKGLSRQMIGEFLGNSKKQFNRDVLDCVVDEMDFSSMELDEALRKFQAHIRVQGEAQK
  VERLIEAFSQRYCMCNPEVVQQFHNPDTIFILAFAIILLNTDMYSPNIKPDRKMMLEDFIRNLRGVDDGADIPRE
  LVVGIYERIQQKELKSNEDHVTYVTKVEKSIVGMKTVLSVPHRRLVCCSRLFEVTDVNKLQKQAAHQREVFLFND
  LLVILKLCPKKKSSSTYTFCKSVGLLGMQFQLFENEYYSHGITLVTPLSGSEKKQVLHFCALGSDEMQKFVEDLK
  ESIAEVTELEQIRIEWELEKQQGTKTLSFKPCGAQGDPQSKQGSPTAKREAALRERPAESTVEVSIHNRLQTSQH
  NSGLGAERGAPVPPPDLQPSPPRQQTPPLPPPPPTPPGTLVQCQQIVKVIVLDKPCLARMEPLLSQALSCYTSSS
  SDSCGSTPLGGPGSPVKVTHQPPLPPPPPPYNHPHQFCPPGSLLHGHRYSSGSRSLV

• Structural information:
  • Protein Domains: (315..34-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (644..83-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189-)
    (850..98-)
    (/note="PH"-)
  • Interpro: IPR000048  IPR033742  IPR011993  IPR023394  IPR000904   IPR035999  
  • Prosite: PS50096 PS50190
  • CDD: cd13318 cd00171
  • STRING: ENSP00000437554
• Other Databases: GeneCards:  IQSEC3  Malacards:  IQSEC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	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:0060077	inhibitory synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0098690	glycinergic synapse	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0099629	postsynaptic specialization of symmetric synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0014069	postsynaptic density	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq