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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IQSEC3 Gene

protein-coding   GIFtS: 48
GCID: GC12P000176

IQ motif and Sec7 domain 3

 Explore 2 diseases affiliated with
IQSEC3 via our new
 Human Malady Compendium 
Biological research products
for IQSEC3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
IQ Motif And Sec7 Domain 31 2
KIAA11101 3 5
MGC301561
IQ Motif And SEC7 Domain-Containing Protein 32

External Ids:    HGNC: 291931   Entrez Gene: 4400732   Ensembl: ENSG000001206457   OMIM: 6121185   UniProtKB: Q9UPP23   

Export aliases for IQSEC3 gene to outside databases

Previous GC identifer: GC12P000057


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: IQEC3_HUMAN, Q9UPP2
Function: Acts as a guanine nucleotide exchange factor (GEF) for ARF1




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IQSEC3 gene promoter:
         Elk-1   Pax-5   Brachyury   NRSF form 1   Nkx2-5   NRSF form 2   FOXO3b   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIQSEC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for IQSEC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IQSEC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.33   Ensembl cytogenetic band:  12p13.33   HGNC cytogenetic band: 12p13.33

IQSEC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IQSEC3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P000176:  view genomic region     (about GC identifiers)

Start:
175,931 bp from pter      End:
287,626 bp from pter
Size:
111,696 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IQEC3_HUMAN, Q9UPP2 (See protein sequence)
Recommended Name: IQ motif and SEC7 domain-containing protein 3  
Size: 1182 amino acids; 127621 Da
Subunit: Interacts with DLG1 and DLG4 (By similarity)
Subcellular location: Cytoplasm
Secondary accessions: A6NIF2 A6NKV9 Q8TB43
Alternative splicing: 2 isoforms:  Q9UPP2-1   Q9UPP2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IQSEC3: NX_Q9UPP2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UPP2

  • IQSEC3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001164209.1  NP_056047.1  

    ENSEMBL proteins: 
     ENSP00000437554   ENSP00000372292   ENSP00000315662  

    Human Recombinant Protein Products: 
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    Uscn Proteins for IQSEC3

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005802NOT trans-Golgi network IBA--
    GO:0030054cell junction IBA--


    IQSEC3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for IQSEC3


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    IQSEC3 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000904 Sec7
     IPR000048 IQ_motif_EF-hand-BS
     IPR001849 Pleckstrin_homology
     IPR023394 SEC7_alpha_orthog
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9UPP2

    ProtoNet protein and cluster: Q9UPP2

    2 Blocks protein families:
    IPB000904 SEC7-like domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: IQEC3_HUMAN, Q9UPP2
    Similarity: Belongs to the BRAG family
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SEC7 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: IQEC3_HUMAN, Q9UPP2
    Function: Acts as a guanine nucleotide exchange factor (GEF) for ARF1

    miRNA
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    hsa-miR-618
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IQSEC3

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005086ARF guanyl-nucleotide exchange factor activity IBA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--


    IQSEC3 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Endocytosis
    Endocytosis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for IQSEC3):
        Endocytosis


    IQSEC3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IQSEC3

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192NOT vesicle-mediated transport IBA--
    GO:0030036actin cytoskeleton organization IBA--
    GO:0032012regulation of ARF protein signal transduction IEA--


    IQSEC3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IQSEC3

    3 HMDB Compounds for IQSEC3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about IQSEC3 / IQEC3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IQSEC3 gene (2 alternative transcripts): 
    NM_001170738.1  NM_015232.1  

    Unigene Cluster for IQSEC3:

    IQ motif and Sec7 domain 3
    Hs.536319  [show with all ESTs]
    Unigene Representative Sequence: NM_001170738
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000538872(uc001qhw.2) ENST00000382841(uc001qhu.1) ENST00000540907
    ENST00000537151 ENST00000544511 ENST00000326261

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate IQSEC3:
    hsa-miR-618
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IQSEC3 (see all 7)
    OriGene shRNA RFP: IQSEC3
    OriGene siRNA: IQSEC3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IQSEC3
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IQSEC3 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): IQSEC3 (NM_015232)
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    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IQSEC3
    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IQSEC3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IQSEC3

    Additional cDNA sequence: 

    AB029033.1 AK091953.1 BC024764.1 BC042067.1 

    7 DOTS entries:

    DT.110613  DT.95230127  DT.91882633  DT.92420288  DT.121170565  DT.95232319  DT.121170570 

    24/61 AceView cDNA sequences (see all 61):

    Z45476 F04342 AI659569 BC042067 BM716776 BC024764 AI568440 AA323964 
    CA407024 N73382 R46392 BM545541 AW452789 AI383465 BM668274 AK091953 
    H19138 F06977 Z44030 AX747275 AI925585 AB029033 AI381297 AA351364 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IQSEC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See IQSEC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IQSEC3

    SOURCE GeneReport for Unigene cluster: Hs.536319

    UniProtKB/Swiss-Prot: IQEC3_HUMAN, Q9UPP2
    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 in glioma cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IQSEC3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IQSEC3 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves IQSEC31 IQ motif and Sec7 domain 3 72.44(n)
    73.09(a)
      418146  XM_416377.3  XP_416377.3 
    lizard
    (Anolis carolinensis)
    Reptilia IQSEC36
    --
    74(a)
    1 ↔ 1
    5(11553162-11614493)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7985161 IQ motif and SEC7 domain-containing protein 3-like 61.66(n)
    62.95(a)
      798516  XM_001335448.4  XP_001335484.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta siz6
    schizo
    22(a)
    1 → many
    3L(21027635-21068544)
    worm
    (Caenorhabditis elegans)
    Secernentea M02B7.56
    Protein M02B7.5
    24(a)
    1 → many
    IV(3808075-3819318)
    rice
    (Oryza sativa)
    Liliopsida --
    guanine nucleotide exchange family protein, putati...
    2(a)
    1 → many
    6(25049896-25054632)


    ENSEMBL Gene Tree for IQSEC3 (if available)
    TreeFam Gene Tree for IQSEC3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IQSEC3 gene
    PSD32  GBF12  CYTH32  CYTH22  ARFGEF22  PSD42  ARFGEF12  IQSEC12  
    PSD22  PSD2  IQSEC22  CYTH42  CYTH12  FBXO82  
    6 SIMAP similar genes for IQSEC3 using alignment to 1 protein entry:     IQEC3_HUMAN:
    CYTH2    CYTH1    FLJ00017    IQSEC1    MST051    IQSEC2

    IQSEC3 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for IQSEC3
    PGOHUM00000239294 PGOHUM00000239674 PGOHUM00000247575


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2254 NCBI SNPs in IQSEC3 are shown (see all 2254    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs736031211,2
    C,F,--105595(+) AGGGCC/TGTGCT 1 -- int15Minor allele frequency- T:0.09WA CSA 125
    rs122988791,2
    --174122(+) ACACAA/GTAACA 1 -- us2k10--------
    rs1475248451,2
    --174180(+) TATAAA/CAGAGG 1 -- us2k10--------
    rs1139553571,2
    C,F--174199(+) ACTCAC/TTTCCT 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs1996568011,2
    --174311(+) CCTGC-/CACACTG 1 -- us2k10--------
    rs2006971321,2
    --174748(+) ATTCT-/GGTACA 1 -- us2k10--------
    rs1122223751,2
    --174806(+) ATTCAA/GTCGGT 1 -- us2k12Minor allele frequency- G:0.06CSA WA 120
    rs1902408731,2
    --174865(+) AAAACA/CCTTCC 1 -- us2k10--------
    rs1132956581,2
    C,F--174875(+) CCACAC/TCAAGG 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs118295741,2
    C,F,H--175010(+) CCCACG/TTATTT 1 -- us2k11Minor allele frequency- T:0.50NA 4

    HapMap Linkage Disequilibrium report for IQSEC3 (175931 - 287626 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 16 variations for IQSEC3
         14 CNVs: 86120 75882 30571 86119 71419 86122 86123 71420 71417 75883 49010 29611 29610 49009
         2 Indels: 101391 45005

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    IQSEC3 for disorders           About GeneDecksing

    OMIM gene information: 612118    OMIM disorders: --

    2 diseases for IQSEC3:    About MalaCards
    cerebritis    neuronitis


    Export disorders for IQSEC3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IQSEC3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with IQSEC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R....Ohara O. (1999)
    2. Identification of a neuron-specific human gene, KIAA1110, that is a guanine nucleotide exchange factor for ARF1. (PubMed id 17981261)1, 2 Hattori Y.... Toda M. (2007)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. (PubMed id 22566498)1 Turner S.T....Boerwinkle E. (2012)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    6. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 440073 HGNC: 29193 AceView: IQSEC3 Ensembl:ENSG00000120645 euGenes: HUgn440073
    ECgene: IQSEC3 Kegg: 440073 H-InvDB: IQSEC3

    (According to HUGE)
    About This Section
    HUGE: KIAA1110

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IQSEC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IQSEC3 gene:
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    von Willebrand factor
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