IQSEC1

Protein-coding gene in the species Homo sapiens

IQSEC1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3QWM, 4C0A

Identifiers
AliasesIQSEC1, ARF-GEP100, ARFGEP100, BRAG2, GEP100, IQ motif and Sec7 domain 1, IQ motif and Sec7 domain ArfGEF 1, IDDSSBA
External IDsOMIM: 610166; MGI: 1196356; HomoloGene: 82429; GeneCards: IQSEC1; OMA:IQSEC1 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for IQSEC1
Genomic location for IQSEC1
Band3p25.2-p25.1Start12,897,043 bp[1]
End13,283,281 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for IQSEC1
Genomic location for IQSEC1
Band6 D1|6 40.16 cMStart90,633,070 bp[2]
End90,965,667 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Brodmann area 46

  • postcentral gyrus

  • superior frontal gyrus

  • right frontal lobe

  • prefrontal cortex

  • cingulate gyrus

  • anterior cingulate cortex

  • Brodmann area 9

  • middle temporal gyrus

  • primary visual cortex
Top expressed in
  • granulocyte

  • primary visual cortex

  • superior frontal gyrus

  • dentate gyrus of hippocampal formation granule cell

  • neural layer of retina

  • cerebellar cortex

  • yolk sac

  • pontine nuclei

  • deep cerebellar nuclei

  • central gray substance of midbrain
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • guanyl-nucleotide exchange factor activity
  • lipid binding
  • protein binding
Cellular component
  • cytoplasm
  • membrane
  • nucleus
  • nucleolus
  • intracellular membrane-bounded organelle
Biological process
  • positive regulation of GTPase activity
  • regulation of ARF protein signal transduction
  • actin cytoskeleton organization
  • positive regulation of keratinocyte migration
  • positive regulation of adherens junction organization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9922

232227

Ensembl

ENSG00000144711

ENSMUSG00000034312

UniProt

Q6DN90

Q8R0S2

RefSeq (mRNA)

NM_001134382
NM_014869
NM_001330619
NM_001376938

NM_001134383
NM_001134384
NM_182784
NM_001356440

RefSeq (protein)

NP_001127854
NP_001317548
NP_055684
NP_001363867

NP_001127855
NP_001127856
NP_001343369

Location (UCSC)Chr 3: 12.9 – 13.28 MbChr 6: 90.63 – 90.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

IQ motif and SEC7 domain-containing protein 1 also known as ARF-GEP100 (ADP-Ribosylation Factor - Guanine nucleotide-Exchange Protein - 100-kDa) is a protein that in humans is encoded by the IQSEC1 gene.[5][6]

Function

The ARF-GEP100 protein is involved in signal transduction. It is a guanine nucleotide exchange factor that promotes binding of GTP to ADP ribosylation factor protein ARF6 and to a lesser extent ARF1 and ARF5.[6] This activates the ADP-ribosylation activity of the target protein and cause it to modify its substrates. ARF-GEP100, through activation of ARF6, is therefore involved in the control of processes such as endocytosis of plasma membrane proteins, E-cadherin recycling and actin cytoskeleton remodeling.[7] ARF-GEP100 appears particularly important in regulating cell adhesion, with reductions in the level of this protein causing enhanced spreading and attachment of cells.[8]

It is highly expressed in the prefrontal cortex, and throughout the rest of the brain, and is believed to have a role in learning and memory, having been detected as phosphorylated in a phospho screen of the PSD.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144711 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034312 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: IQSEC1 IQ motif and Sec7 domain 1".
  6. ^ a b Someya A, Sata M, Takeda K, Pacheco-Rodriguez G, Ferrans VJ, Moss J, et al. (February 2001). "ARF-GEP100, a guanine nucleotide-exchange protein for ADP-ribosylation factor 6". Proc. Natl. Acad. Sci. U.S.A. 98 (5): 2413–8. Bibcode:2001PNAS...98.2413S. doi:10.1073/pnas.051634798. PMC 30152. PMID 11226253.
  7. ^ Hiroi T, Someya A, Thompson W, Moss J, Vaughan M (2006). "GEP100/BRAG2: Activator of ADP-ribosylation factor 6 for regulation of cell adhesion and actin cytoskeleton via E-cadherin and α-catenin". Proc. Natl. Acad. Sci. U.S.A. 103 (28): 10672–7. Bibcode:2006PNAS..10310672H. doi:10.1073/pnas.0604091103. PMC 1502290. PMID 16807291.
  8. ^ Dunphy JL, Moravec R, Ly K, Lasell TK, Melancon P, Casanova JE (2006). "The Arf6 GEF GEP100/BRAG2 regulates cell adhesion by controlling endocytosis of beta1 integrins". Curr. Biol. 16 (3): 315–20. Bibcode:2006CBio...16..315D. doi:10.1016/j.cub.2005.12.032. PMC 3600433. PMID 16461286.
  9. ^ Trinidad JC, Specht CG, Thalhammer A, Schoepfer R, Burlingame AL (May 2006). "Comprehensive identification of phosphorylation sites in postsynaptic density preparations". Mol. Cell. Proteomics. 5 (5): 914–22. doi:10.1074/mcp.T500041-MCP200. PMID 16452087.

Further reading

  • Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
  • Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  • Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, et al. (1999). "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". DNA Res. 5 (5): 277–86. doi:10.1093/dnares/5.5.277. PMID 9872452.
  • Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.


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