IQSEC2
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| edit |
| IQ motiv i Sec7 domen 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | IQSEC2; BRAG1; MRX1 | ||||||||||
| Vanjski ID | OMIM: 300522 MGI: 3528396 HomoloGene: 19407 GeneCards: IQSEC2 Gene | ||||||||||
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| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 23096 | 245666 | |||||||||
| Ensembl | ENSG00000124313 | ENSMUSG00000041115 | |||||||||
| UniProt | Q5JU85 | Q5DU25 | |||||||||
| Ref. Sekv. (iRNK) | NM_001111125 | NM_001005475 | |||||||||
| Ref. Sekv. (protein) | NP_001104595 | NP_001005475 | |||||||||
| Lokacija (UCSC) | Chr HG1433_PATCH: 52.98 - 53.06 Mb | Chr X: 152.14 - 152.23 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
IQ motiv i Sec7 domen 2 je protein koji je kod čoveka kodiran IQSEC2 genom.[1][2]
Funkcija[uredi | uredi kod]
IQSEC2 gen kodira faktor razmene guaninskog nukleotida za ARF familiju GTP vezujućih proteina (na primer ARF1).[3]
Klinički značaj[uredi | uredi kod]
Ovaj protein je povezan sa X-vezanom mentalnom retardacijom 1.[3]
Reference[uredi | uredi kod]
- ↑ „Entrez Gene: IQ motif and Sec7 domain 2”.
- ↑ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (February 1998). „Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro”. DNA Res. 5 (1): 31–9. DOI:10.1093/dnares/5.1.31. PMID 9628581.
- ↑ 3,0 3,1 Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J (June 2010). „Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability”. Nat. Genet. 42 (6): 486–8. DOI:10.1038/ng.588. PMID 20473311.
Literatura[uredi | uredi kod]
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). „The DNA sequence of the human X chromosome.”. Nature 434 (7031): 325–37. DOI:10.1038/nature03440. PMC 2665286. PMID 15772651.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). „Complete sequencing and characterization of 21,243 full-length human cDNAs.”. Nat. Genet. 36 (1): 40–5. DOI:10.1038/ng1285. PMID 14702039.
- Filippova GN, Cheng MK, Moore JM, et al. (2005). „Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development.”. Dev. Cell 8 (1): 31–42. DOI:10.1016/j.devcel.2004.10.018. PMID 15669143.
- Cox R, Mason-Gamer RJ, Jackson CL, Segev N (2004). „Phylogenetic analysis of Sec7-domain-containing Arf nucleotide exchangers.”. Mol. Biol. Cell 15 (4): 1487–505. DOI:10.1091/mbc.E03-06-0443. PMC 379250. PMID 14742722.
- Dosemeci A, Makusky AJ, Jankowska-Stephens E, et al. (2007). „Composition of the synaptic PSD-95 complex.”. Mol. Cell Proteomics 6 (10): 1749–60. DOI:10.1074/mcp.M700040-MCP200. PMC 2096750. PMID 17623647.
- Tsuchiya KD, Greally JM, Yi Y, et al. (2004). „Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse.”. Genome Res. 14 (7): 1275–84. DOI:10.1101/gr.2575904. PMC 442142. PMID 15197169.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). „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. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Barbe L, Lundberg E, Oksvold P, et al. (2008). „Toward a confocal subcellular atlas of the human proteome.”. Mol. Cell Proteomics 7 (3): 499–508. DOI:10.1074/mcp.M700325-MCP200. PMID 18029348.
- Murphy JA, Jensen ON, Walikonis RS (2006). „BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses.”. Brain Res. 1120 (1): 35–45. DOI:10.1016/j.brainres.2006.08.096. PMID 17045249.