IQSEC1

IQSEC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3QWM, 4C0A
Identifiers
Aliases	IQSEC1 , ARF-GEP100, ARFGEP100, BRAG2, GEP100, IQ motif and Sec7 domain 1, IQ motif and Sec7 domain ArfGEF 1, IDDSSBA
External IDs	OMIM: 610166 MGI: 1196356 HomoloGene: 82429 GeneCards: IQSEC1
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3p25.2-p25.1 Start 12,897,043 bp [1] End 13,283,281 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 D1|6 40.16 cM Start 90,633,070 bp [2] End 90,965,667 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 46 postcentral gyrus superior frontal gyrus prefrontal cortex cingulate gyrus Brodmann area 9 middle temporal gyrus orbitofrontal cortex entorhinal cortex tibia Top expressed in superior frontal gyrus cerebellar cortex yolk sac pontine nuclei medial vestibular nucleus dorsal tegmental nucleus anterior horn of spinal cord ascending aorta medial geniculate nucleus mirror 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 Species Human Mouse 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 Mb Chr 6: 90.63 – 90.97 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000144711 - Ensembl, May 2017
2. 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. Someya A, Sata M, Takeda K, Pacheco-Rodriguez G, Ferrans VJ, Moss J, Vaughan M (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. 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, et al. (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, 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, 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, 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, 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, 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.

External links

• IQSEC1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)