Protein-coding gene in the species Homo sapiens
IQSEC1 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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3QWM, 4C0A |
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Identifiers |
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Aliases | IQSEC1, ARF-GEP100, ARFGEP100, BRAG2, GEP100, IQ motif and Sec7 domain 1, IQ motif and Sec7 domain ArfGEF 1, IDDSSBA |
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External IDs | OMIM: 610166; MGI: 1196356; HomoloGene: 82429; GeneCards: IQSEC1; OMA:IQSEC1 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 3 (human)[1] |
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| Band | 3p25.2-p25.1 | Start | 12,897,043 bp[1] |
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End | 13,283,281 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 6 (mouse)[2] |
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| Band | 6 D1|6 40.16 cM | Start | 90,633,070 bp[2] |
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End | 90,965,667 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS |
| More reference expression data |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001134382 NM_014869 NM_001330619 NM_001376938 |
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NM_001134383 NM_001134384 NM_182784 NM_001356440 |
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RefSeq (protein) | |
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NP_001127854 NP_001317548 NP_055684 NP_001363867 |
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NP_001127855 NP_001127856 NP_001343369 |
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Location (UCSC) | Chr 3: 12.9 – 13.28 Mb | Chr 6: 90.63 – 90.97 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000144711 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034312 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: IQSEC1 IQ motif and Sec7 domain 1".
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
External links