IQSEC1
entrez
9922
canonical
uniprot
Q6DN90
canonical
ensembl
ENSG00000144711
resolver
ensp
ENSP00000273221
resolver
ensp
ENSP00000478001
resolver
ensp
ENSP00000480301
resolver
ensp
ENSP00000495163
resolver
ensp
ENSP00000497029
resolver
enst
ENST00000618604
resolver
enst
ENST00000648114
resolver
genesymbol
IQSEC1
resolver
genesymbol_syn
ARFGEP100
resolver
genesymbol_syn
BRAG2
resolver
genesymbol_syn
KIAA0763
resolver
hgnc
HGNC:29112
resolver
uniprot
A0A087WWK8
resolver
uniprot
A0A0C4DGT3
resolver
uniprot
A0A384NLB9
resolver
uniprot
A0A3B3IRZ4
resolver
uniprot
B4DGC5
resolver
uniprot
O94863
resolver
uniprot
Q96D85
resolver
uniprot_entry
A0A0C4DGT3_HUMAN
resolver
uniprot_entry
A0A384NLB9_HUMAN
resolver
uniprot_entry
A0A3B3IRZ4_HUMAN
resolver
uniprot_entry
B4DGC5_HUMAN
resolver
uniprot_entry
IQEC1_HUMAN
resolver
uniprot_sec
A0A087WWK8
resolver
uniprot_sec
O94863
resolver
uniprot_sec
Q96D85
resolver
amino_acid_sequence
MWCLHCNSERTQSLLELELDSGVEGEAPSSETGTSLDSPSAYPQGPLVPGSSLSPDHYEHTSVGAYGLYSGPPGQQQRTRRPKLQHSTSILRKQAEEEAIKRSRSLSESYELSSDLQDKQVEMLERKYGGRLVTRHAARTIQTAFRQYQMNKNFERLRSSMSENRMSRRIVLSNMRMQFSFEGPEKVHSSYFEGKQVSVTNDGSQLGALVSPECGDLSEPTTLKSPAPSSDFADAITELEDAFSRQVKSLAESIDDALNCRSLHTEEAPALDAARARDTEPQTALHGMDHRKLDEMTASYSDVTLYIDEEELSPPLPLSQAGDRPSSTESDLRLRAGGAAPDYWALAHKEDKADTDTSCRSTPSLERQEQRLRVEHLPLLTIEPPSDSSVDLSDRSERGSLKRQSAYERSLGGQQGSPKHGPHSGAPKSLPREEPELRPRPPRPLDSHLAINGSANRQSKSESDYSDGDNDSINSTSNSNDTINCSSESSSRDSLREQTLSKQTYHKEARNSWDSPAFSNDVIRKRHYRIGLNLFNKKPEKGVQYLIERGFVPDTPVGVAHFLLQRKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFSTMELDEALRKFQAHIRVQGEAQKVERLIEAFSQRYCICNPGVVRQFRNPDTIFILAFAIILLNTDMYSPNVKPERKMKLEDFIKNLRGVDDGEDIPREMLMGIYERIRKRELKTNEDHVSQVQKVEKLIVGKKPIGSLHPGLGCVLSLPHRRLVCYCRLFEVPDPNKPQKLGLHQREIFLFNDLLVVTKIFQKKKNSVTYSFRQSFSLYGMQVLLFENQYYPNGIRLTSSVPGADIKVLINFNAPNPQDRKKFTDDLRESIAEVQEMEKHRIESELEKQKGVVRPSMSQCSSLKKESGNGTLSRACLDDSYASGEGLKRSALSSSLRDLSEAGKRGRRSSAGSLESNVEFQPFEPLQPSVLCS
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) [MIM:618687]: An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression. {ECO:0000269|PubMed:31607425}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 nucleotide exchange protein for ARF6, mediating internalization of beta-1 integrin (PubMed:16461286). Involved in neuronal development (Probable). In neurons, plays a role in the control of vesicle formation by endocytoc cargo. Upon long term depression, interacts with GRIA2 and mediates the activation of ARF6 to internalize synaptic AMPAR receptors (By similarity). {ECO:0000250|UniProtKB:A0A0G2JUG7, ECO:0000269|PubMed:11226253, ECO:0000269|PubMed:16461286, ECO:0000269|PubMed:24058294, ECO:0000305|PubMed:31607425}.
uniprot
proteins
mass_dalton
108314
uniprot
proteins
mutagenesis
MUTAGEN 128; /note="Y->A: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 135; /note="R->A: Decreased interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 147; /note="Q->A: Decreased interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 154; /note="F->A: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 156; /note="R->E: Decreased interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 158; /note="R->A: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 165; /note="R->E: Decreased interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 168; /note="R->A: Decreased interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 595; /note="D->R: Decreased interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 620; /note="E->K: Abolishes guanosine nucleotide exchange factor activity."; /evidence="ECO:0000269|PubMed:24058294"; MUTAGEN 625; /note="E->R: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 629; /note="E->R: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 633; /note="Q->A: Decreased interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 650; /note="D->A: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 657; /note="F->A: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 661; /note="L->A: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 672; /note="K->E: Abolishes interaction with CALM1."; /evidence="ECO:0000269|PubMed:37787765
uniprot
proteins
protein_family
BRAG family
uniprot
proteins
pubmed
11226253
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16461286
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24058294
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
31607425
uniprot
proteins
pubmed
37787765
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
963
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11226253}. Nucleus {ECO:0000269|PubMed:11226253}. Postsynaptic density {ECO:0000250|UniProtKB:Q8R0S2}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250|UniProtKB:Q8R0S2}. Note=At steady state, may be preferentially cytosolic.
uniprot
proteins