Human Gene IQSEC1 (ENST00000273221.8) from GENCODE V44
  Description: Homo sapiens IQ motif and Sec7 domain ArfGEF 1 (IQSEC1), transcript variant 2, mRNA. (from RefSeq NM_014869)
Gencode Transcript: ENST00000273221.8
Gencode Gene: ENSG00000144711.17
Transcript (Including UTRs)
   Position: hg38 chr3:12,897,220-12,967,668 Size: 70,449 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr3:12,899,390-12,967,451 Size: 68,062 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:12,897,220-12,967,668)mRNA (may differ from genome)Protein (963 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IQEC1_HUMAN
DESCRIPTION: RecName: Full=IQ motif and SEC7 domain-containing protein 1; AltName: Full=ADP-ribosylation factors guanine nucleotide-exchange protein 100; AltName: Full=ADP-ribosylation factors guanine nucleotide-exchange protein 2; AltName: Full=Brefeldin-resistant Arf-GEF 2 protein;
FUNCTION: In addition to accelerate GTP gamma S binding by ARFs of all three classes, it appears to function preferentially as a guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin.
SUBUNIT: Interacts with ARF6.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=At steady state, may be preferentially cytosolic.
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.
SIMILARITY: Belongs to the BRAG family.
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SEC7 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -141.20217-0.651 Picture PostScript Text
3' UTR -784.102170-0.361 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000904 - Sec7
IPR023394 - SEC7_alpha_orthog

Pfam Domains:
PF01369 - Sec7 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3QWM - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q6DN90
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005086 ARF guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0008289 lipid binding

Biological Process:
GO:0030036 actin cytoskeleton organization
GO:0032012 regulation of ARF protein signal transduction
GO:0043547 positive regulation of GTPase activity

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC010267 - Homo sapiens IQ motif and Sec7 domain 1, mRNA (cDNA clone MGC:5112 IMAGE:2900367), complete cds.
GQ901036 - Homo sapiens clone HEL-T-148 epididymis secretory sperm binding protein mRNA, complete cds.
AK294525 - Homo sapiens cDNA FLJ60491 complete cds, highly similar to IQ motif and Sec7 domain-containing protein 1.
BC024645 - Homo sapiens cDNA clone IMAGE:4456146, partial cds.
DQ575378 - Homo sapiens piRNA piR-43490, complete sequence.
DQ598235 - Homo sapiens piRNA piR-36301, complete sequence.
AB018306 - Homo sapiens mRNA for KIAA0763 protein, partial cds.
AY653734 - Homo sapiens brefeldin resistant Arf-GEF 2b isoform mRNA, complete cds, alternatively spliced.
AF055004 - Homo sapiens clone 24640 mRNA sequence.
JD495214 - Sequence 476238 from Patent EP1572962.
JD421746 - Sequence 402770 from Patent EP1572962.
JD420007 - Sequence 401031 from Patent EP1572962.
JD110159 - Sequence 91183 from Patent EP1572962.
JD097085 - Sequence 78109 from Patent EP1572962.
JD183048 - Sequence 164072 from Patent EP1572962.
JD207436 - Sequence 188460 from Patent EP1572962.
JD178428 - Sequence 159452 from Patent EP1572962.
JD472952 - Sequence 453976 from Patent EP1572962.
JD115076 - Sequence 96100 from Patent EP1572962.
JD233375 - Sequence 214399 from Patent EP1572962.
JD466856 - Sequence 447880 from Patent EP1572962.
JD415658 - Sequence 396682 from Patent EP1572962.
JD234773 - Sequence 215797 from Patent EP1572962.
JD368409 - Sequence 349433 from Patent EP1572962.
JD151893 - Sequence 132917 from Patent EP1572962.
JD408633 - Sequence 389657 from Patent EP1572962.
JD533984 - Sequence 515008 from Patent EP1572962.
JD455980 - Sequence 437004 from Patent EP1572962.
JD372389 - Sequence 353413 from Patent EP1572962.
DQ587544 - Homo sapiens piRNA piR-54656, complete sequence.
DQ591777 - Homo sapiens piRNA piR-58889, complete sequence.
JD073288 - Sequence 54312 from Patent EP1572962.
JD244112 - Sequence 225136 from Patent EP1572962.
BC008088 - Homo sapiens cDNA clone IMAGE:4155538, partial cds.
JD072654 - Sequence 53678 from Patent EP1572962.
JD268465 - Sequence 249489 from Patent EP1572962.
JD551925 - Sequence 532949 from Patent EP1572962.
JD519420 - Sequence 500444 from Patent EP1572962.
JD555020 - Sequence 536044 from Patent EP1572962.
AB383981 - Synthetic construct DNA, clone: pF1KSDA0763, Homo sapiens IQSEC1 gene for IQ motif and Sec7 domain-containing protein 1, complete cds, without stop codon, in Flexi system.
JF432314 - Synthetic construct Homo sapiens clone IMAGE:100073499 IQ motif and Sec7 domain 1 (IQSEC1) gene, encodes complete protein.
KJ904639 - Synthetic construct Homo sapiens clone ccsbBroadEn_14033 IQSEC1 gene, encodes complete protein.
DQ580466 - Homo sapiens piRNA piR-48578, complete sequence.
LF207287 - JP 2014500723-A/14790: Polycomb-Associated Non-Coding RNAs.
MA442864 - JP 2018138019-A/14790: Polycomb-Associated Non-Coding RNAs.
LF364077 - JP 2014500723-A/171580: Polycomb-Associated Non-Coding RNAs.
MA599654 - JP 2018138019-A/171580: Polycomb-Associated Non-Coding RNAs.
JD247431 - Sequence 228455 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

-  Other Names for This Gene
  Alternate Gene Symbols: ARFGEP100, BRAG2, ENST00000273221.1, ENST00000273221.2, ENST00000273221.3, ENST00000273221.4, ENST00000273221.5, ENST00000273221.6, ENST00000273221.7, IQEC1_HUMAN, KIAA0763, NM_014869, O94863, Q6DN90, Q96D85, uc003bxt.1, uc003bxt.2, uc003bxt.3, uc003bxt.4
UCSC ID: ENST00000273221.8
RefSeq Accession: NM_014869
Protein: Q6DN90 (aka IQEC1_HUMAN)
CCDS: CCDS33703.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.