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Aliases for IQSEC1 Gene

Aliases for IQSEC1 Gene

  • IQ Motif And Sec7 Domain 1 2 3
  • ADP-Ribosylation Factors Guanine Nucleotide-Exchange Protein 100 3 4
  • ADP-Ribosylation Factors Guanine Nucleotide-Exchange Protein 2 3 4
  • Brefeldin-Resistant Arf-GEF 2 Protein 3 4
  • Brefeldin A-Resistant ARF-GEF2 2 3
  • ARFGEP100 3 4
  • KIAA0763 4 6
  • BRAG2 3 4
  • IQ Motif And SEC7 Domain-Containing Protein 1 3
  • ARF-GEP100 3
  • GEP100 3

External Ids for IQSEC1 Gene

Previous GeneCards Identifiers for IQSEC1 Gene

  • GC03M012916
  • GC03M012938
  • GC03M012872

Summaries for IQSEC1 Gene

GeneCards Summary for IQSEC1 Gene

IQSEC1 (IQ Motif And Sec7 Domain 1) is a Protein Coding gene. Among its related pathways are Endocytosis and Arf6 signaling events. GO annotations related to this gene include phospholipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000268465.

UniProtKB/Swiss-Prot for IQSEC1 Gene

  • Guanine nucleotide exchange factor for ARF1 and ARF6 (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 internalisation of beta-1 integrin.

Gene Wiki entry for IQSEC1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IQSEC1 Gene

Genomics for IQSEC1 Gene

Regulatory Elements for IQSEC1 Gene

Genomic Location for IQSEC1 Gene

Start:
12,897,043 bp from pter
End:
13,073,117 bp from pter
Size:
176,075 bases
Orientation:
Minus strand

Genomic View for IQSEC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IQSEC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IQSEC1 Gene

Proteins for IQSEC1 Gene

  • Protein details for IQSEC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6DN90-IQEC1_HUMAN
    Recommended name:
    IQ motif and SEC7 domain-containing protein 1
    Protein Accession:
    Q6DN90
    Secondary Accessions:
    • O94863
    • Q96D85

    Protein attributes for IQSEC1 Gene

    Size:
    963 amino acids
    Molecular mass:
    108314 Da
    Quaternary structure:
    • Interacts with ARF1 and ARF6.

    Three dimensional structures from OCA and Proteopedia for IQSEC1 Gene

    Alternative splice isoforms for IQSEC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IQSEC1 Gene

Proteomics data for IQSEC1 Gene at MOPED

Post-translational modifications for IQSEC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IQSEC1 Gene

No data available for DME Specific Peptides for IQSEC1 Gene

Domains for IQSEC1 Gene

Suggested Antigen Peptide Sequences for IQSEC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6DN90

UniProtKB/Swiss-Prot:

IQEC1_HUMAN :
  • Q6DN90
Domain:
  • The PH domain mediates interaction with lipid membranes that contain phosphatidylinositol-4,5-bisphosphate, but does not bind membranes that lack phosphatidylinositol-4,5-bisphosphate.
  • Contains 1 IQ domain.
  • Contains 1 PH domain.
  • Contains 1 SEC7 domain.
Family:
  • Belongs to the BRAG family.
genes like me logo Genes that share domains with IQSEC1: view

No data available for Gene Families for IQSEC1 Gene

Function for IQSEC1 Gene

Molecular function for IQSEC1 Gene

UniProtKB/Swiss-Prot Function: Guanine nucleotide exchange factor for ARF1 and ARF6 (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 internalisation of beta-1 integrin.

Gene Ontology (GO) - Molecular Function for IQSEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IBA --
GO:0005515 protein binding --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with IQSEC1: view
genes like me logo Genes that share phenotypes with IQSEC1: view

miRNA for IQSEC1 Gene

miRTarBase miRNAs that target IQSEC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for IQSEC1 Gene

Localization for IQSEC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IQSEC1 Gene

Cytoplasm. Nucleus. Note=At steady state, may be preferentially cytosolic.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IQSEC1 Gene COMPARTMENTS Subcellular localization image for IQSEC1 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IQSEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus --
GO:0005802 NOT trans-Golgi network IBA --
GO:0016020 membrane IDA 19946888
GO:0030054 cell junction --
genes like me logo Genes that share ontologies with IQSEC1: view

Pathways for IQSEC1 Gene

SuperPathways for IQSEC1 Gene

genes like me logo Genes that share pathways with IQSEC1: view

Pathways by source for IQSEC1 Gene

1 BioSystems pathway for IQSEC1 Gene
1 KEGG pathway for IQSEC1 Gene

Gene Ontology (GO) - Biological Process for IQSEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 NOT vesicle-mediated transport IBA --
GO:0030036 actin cytoskeleton organization IBA --
GO:0032012 regulation of ARF protein signal transduction --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with IQSEC1: view

Compounds for IQSEC1 Gene

(3) HMDB Compounds for IQSEC1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with IQSEC1: view

Transcripts for IQSEC1 Gene

Unigene Clusters for IQSEC1 Gene

IQ motif and Sec7 domain 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IQSEC1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17
SP1:
SP2:
SP3: - -
SP4: -
SP5: - - -
SP6: -
SP7:

Relevant External Links for IQSEC1 Gene

GeneLoc Exon Structure for
IQSEC1
ECgene alternative splicing isoforms for
IQSEC1

Expression for IQSEC1 Gene

mRNA expression in normal human tissues for IQSEC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IQSEC1 Gene

This gene is overexpressed in Whole Blood (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IQSEC1 Gene

SOURCE GeneReport for Unigene cluster for IQSEC1 Gene Hs.475506

mRNA Expression by UniProt/SwissProt for IQSEC1 Gene

Q6DN90-IQEC1_HUMAN
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.
genes like me logo Genes that share expressions with IQSEC1: view

Orthologs for IQSEC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IQSEC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IQSEC1 35
  • 99.53 (n)
  • 99.57 (a)
IQSEC1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IQSEC1 35
  • 86.67 (n)
  • 88.85 (a)
IQSEC1 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IQSEC1 35
  • 85.92 (n)
  • 90.77 (a)
IQSEC1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iqsec1 35
  • 87.91 (n)
  • 94.25 (a)
Iqsec1 16
Iqsec1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IQSEC1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IQSEC1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iqsec1 35
  • 88.65 (n)
  • 96 (a)
chicken
(Gallus gallus)
Aves IQSEC1 36
  • 66 (a)
OneToOne
LOC415976 35
  • 73.76 (n)
  • 86.79 (a)
lizard
(Anolis carolinensis)
Reptilia IQSEC1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqsec1 35
  • 75.24 (n)
  • 81.51 (a)
zebrafish
(Danio rerio)
Actinopterygii IQSEC1 (1 of 2) 36
  • 63 (a)
OneToMany
IQSEC1 (2 of 2) 36
  • 71 (a)
OneToMany
LOC100148736 35
  • 74.03 (n)
  • 80.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta siz 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SYT1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToMany
Species with no ortholog for IQSEC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IQSEC1 Gene

ENSEMBL:
Gene Tree for IQSEC1 (if available)
TreeFam:
Gene Tree for IQSEC1 (if available)

Paralogs for IQSEC1 Gene

Selected SIMAP similar genes for IQSEC1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with IQSEC1: view

Variants for IQSEC1 Gene

Sequence variations from dbSNP and Humsavar for IQSEC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs9211 -- 12,898,047(-) AATTA(C/T)TGCAG utr-variant-3-prime
rs12112 -- 12,898,109(-) ATGTC(C/T)GCCTG utr-variant-3-prime
rs14191 -- 12,898,847(-) GGAGG(C/T)TGTTC utr-variant-3-prime
rs87561 -- 13,049,489(+) TGAGG(C/T)ACATG intron-variant
rs165566 -- 13,045,400(+) TGCCC(A/G)ACACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IQSEC1 Gene

Variant ID Type Subtype PubMed ID
nsv460435 CNV Loss 19166990
nsv876542 CNV Loss 21882294
nsv876543 CNV Gain 21882294
dgv5108n71 CNV Loss 21882294
nsv876545 CNV Loss 21882294
nsv876546 CNV Loss 21882294
nsv470405 CNV Loss 18288195
nsv834617 CNV Loss 17160897
esv2724937 CNV Deletion 23290073
dgv1435e1 CNV Complex 17122850
esv999756 CNV Deletion 20482838
esv33832 CNV Gain 17666407
esv33247 CNV Loss 17666407
nsv460442 CNV Loss 19166990

Relevant External Links for IQSEC1 Gene

HapMap Linkage Disequilibrium report
IQSEC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQSEC1 Gene

Disorders for IQSEC1 Gene

(1) University of Copenhagen DISEASES for IQSEC1 Gene

Relevant External Links for IQSEC1

Genetic Association Database (GAD)
IQSEC1
Human Genome Epidemiology (HuGE) Navigator
IQSEC1
genes like me logo Genes that share disorders with IQSEC1: view

No data available for UniProtKB/Swiss-Prot for IQSEC1 Gene

Publications for IQSEC1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  2. ARF-GEP(100), a guanine nucleotide-exchange protein for ADP- ribosylation factor 6. (PMID: 11226253) Someya A. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The Arf6 GEF GEP100/BRAG2 regulates cell adhesion by controlling endocytosis of beta1 integrins. (PMID: 16461286) Dunphy J.L. … Casanova J.E. (Curr. Biol. 2006) 3 4

Products for IQSEC1 Gene

Sources for IQSEC1 Gene

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