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Aliases for IQSEC1 Gene

Aliases for IQSEC1 Gene

  • IQ Motif And Sec7 Domain 1 2 3 5
  • 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
  • BRAG2 3 4
  • IQ Motif And SEC7 Domain-Containing Protein 1 3
  • ARF-GEP100 3
  • KIAA0763 4
  • GEP100 3

External Ids for IQSEC1 Gene

Previous GeneCards Identifiers for IQSEC1 Gene

  • GC03M012916
  • GC03M012938
  • GC03M012872
  • GC03M013084
  • GC03M013439
  • GC03M013682
  • GC03M013802
  • GC03M013923
  • GC03M014036
  • GC03M014162
  • GC03M014285

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 EGF/EGFR Signaling Pathway and Arf6 signaling events. Gene Ontology (GO) annotations related to this gene include lipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC2.

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

Additional gene information for IQSEC1 Gene

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

Genomics for IQSEC1 Gene

GeneHancer (GH) Regulatory Elements for IQSEC1 Gene

Promoters and enhancers for IQSEC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J012962 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 661.2 +316.0 316028 8.7 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IQSEC1 TSEN2 ENSG00000250939 SNORA7A RPL32 CAND2 PIR41577 GC03M014578 GC03P013041
GH03J013068 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 657.9 +211.5 211508 5.6 HDGF PKNOX1 RB1 SIN3A BMI1 ZNF143 ATF7 IKZF2 RUNX3 CREM IQSEC1 NUP210 PIR31465 GC03P013057 GC03P013042 GC03P013041
GH03J012986 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 661.5 +296.1 296145 1.8 NCOA3 GTF2F1 CLOCK ESRRA USF1 SIN3A ZIC2 ZBTB7B ZNF507 MTA3 IQSEC1 GC03P013041 PIR41577 GC03M014578
GH03J013281 Enhancer 1.2 FANTOM5 Ensembl 650.7 +0.4 405 2.8 ARID4B SIN3A DMAP1 YY1 ZNF121 GLIS2 KLF7 SP3 RXRA SP5 IQSEC1 GC03P013212
GH03J013001 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.4 +269.9 269885 22.6 HDGF PKNOX1 SMAD1 ARNT YBX1 IRF4 POLR2B ZNF766 CBX5 E2F8 IQSEC1 HDAC11 HDAC11-AS1 CAND2 NUP210 RPL32 GC03P013041 GC03P013042 PIR41577 GC03M014578
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IQSEC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IQSEC1 gene promoter:
  • Egr-2
  • YY1
  • Lmo2
  • Nkx6-1
  • ITF-2
  • Tal-1beta
  • AML1a
  • PPAR-alpha
  • Meis-1

Genomic Locations for IQSEC1 Gene

Genomic Locations for IQSEC1 Gene
chr3:12,897,043-13,282,998
(GRCh38/hg38)
Size:
385,956 bases
Orientation:
Minus strand
chr3:12,938,719-13,114,617
(GRCh37/hg19)
Size:
175,899 bases
Orientation:
Minus strand

Genomic View for IQSEC1 Gene

Genes around IQSEC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IQSEC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for IQSEC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for IQSEC1

No data available for DME Specific Peptides for IQSEC1 Gene

Domains & Families for IQSEC1 Gene

Gene Families for IQSEC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • 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.
  • Belongs to the BRAG family.
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.
Family:
  • Belongs to the BRAG family.
genes like me logo Genes that share domains with IQSEC1: view

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.

Phenotypes From GWAS Catalog for IQSEC1 Gene

Gene Ontology (GO) - Molecular Function for IQSEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IEA,IPI 27265506
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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IQSEC1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IQSEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane HDA 19946888
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with IQSEC1: view

Pathways & Interactions for IQSEC1 Gene

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

Pathways by source for IQSEC1 Gene

2 BioSystems pathways 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:0030036 actin cytoskeleton organization IBA --
GO:0032012 regulation of ARF protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with IQSEC1: view

No data available for SIGNOR curated interactions for IQSEC1 Gene

Drugs & Compounds for IQSEC1 Gene

(3) Drugs for IQSEC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with IQSEC1: view

Transcripts for IQSEC1 Gene

mRNA/cDNA for IQSEC1 Gene

Unigene Clusters for IQSEC1 Gene

IQ motif and Sec7 domain 1:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.2).

Protein differential expression in normal tissues from HIPED for IQSEC1 Gene

This gene is overexpressed in Brain (24.8) and Frontal cortex (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IQSEC1 Gene



Protein tissue co-expression partners for IQSEC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IQSEC1 Gene:

IQSEC1

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.

Evidence on tissue expression from TISSUES for IQSEC1 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Eye(2.7)
genes like me logo Genes that share expression patterns with IQSEC1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IQSEC1 Gene

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 34 33
  • 99.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iqsec1 33
  • 88.65 (n)
mouse
(Mus musculus)
Mammalia Iqsec1 16 34 33
  • 87.91 (n)
oppossum
(Monodelphis domestica)
Mammalia IQSEC1 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IQSEC1 34 33
  • 86.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IQSEC1 34 33
  • 85.92 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IQSEC1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC415976 33
  • 73.76 (n)
IQSEC1 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IQSEC1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqsec1 33
  • 75.24 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100148736 33
  • 74.03 (n)
IQSEC1 (2 of 2) 34
  • 71 (a)
OneToMany
IQSEC1 (1 of 2) 34
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta siz 34
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SYT1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToMany
Species where no ortholog for IQSEC1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IQSEC1: view image

Paralogs for IQSEC1 Gene

(8) SIMAP similar genes for IQSEC1 Gene using alignment to 4 proteins:

  • IQEC1_HUMAN
  • C9JMG9_HUMAN
  • H7C107_HUMAN
  • L0R4Y9_HUMAN
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 Variation AA Info Type
rs1000007090 -- 12,999,738(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000010328 -- 13,240,076(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000010954 -- 12,970,082(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000042867 -- 13,234,379(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000051637 -- 13,197,645(-) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1361e212 CNV loss 25503493
dgv8228n54 CNV loss 21841781
esv2724937 CNV deletion 23290073
esv2759129 CNV loss 17122850
esv2763222 CNV gain 21179565
esv33247 CNV loss 17666407
esv33832 CNV gain 17666407
esv3446356 CNV duplication 20981092
esv3595344 CNV loss 21293372
esv3595345 CNV gain 21293372
esv3893663 CNV gain 25118596
esv999756 CNV deletion 20482838
nsv1074570 CNV deletion 25765185
nsv460435 CNV loss 19166990
nsv460442 CNV loss 19166990
nsv470405 CNV loss 18288195
nsv589715 CNV loss 21841781
nsv589716 CNV loss 21841781
nsv589717 CNV loss 21841781
nsv589718 CNV loss 21841781
nsv589719 CNV loss 21841781
nsv589720 CNV loss 21841781
nsv589721 CNV gain 21841781
nsv589725 CNV loss 21841781
nsv834617 CNV loss 17160897
nsv966990 CNV duplication 23825009
nsv999401 CNV gain 25217958

Variation tolerance for IQSEC1 Gene

Residual Variation Intolerance Score: 3.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.59; 78.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IQSEC1 Gene

Human Gene Mutation Database (HGMD)
IQSEC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IQSEC1

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

Disorders for IQSEC1 Gene

Additional Disease Information for IQSEC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for IQSEC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  2. Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms. (PMID: 20613766) Akiyama K … Inoue I (Journal of human genetics 2010) 3 44 58
  3. The Arf6 GEF GEP100/BRAG2 regulates cell adhesion by controlling endocytosis of beta1 integrins. (PMID: 16461286) Dunphy JL … Casanova JE (Current biology : CB 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. ARF-GEP(100), a guanine nucleotide-exchange protein for ADP-ribosylation factor 6. (PMID: 11226253) Someya A … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 58

Products for IQSEC1 Gene

Sources for IQSEC1 Gene

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