GLMN
Glomulin jest protein koji je kod ljudi kodiran genom GLMN sa hromosoma 1.[5][6]
Aminokiselininska sekvenca
Dužina polipeptidnog lanca je 594 aminokiseline, a molekulska težina 68 208 Da.[7].
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAVEELQSII | KRCQILEEQD | FKEEDFGLFQ | LAGQRCIEEG | HTDQLLEIIQ | ||||
| NEKNKVIIKN | MGWNLVGPVV | RCLLCKDKED | SKRKVYFLIF | DLLVKLCNPK | ||||
| ELLLGLLELI | EEPSGKQISQ | SILLLLQPLQ | TVIQKLHNKA | YSIGLALSTL | ||||
| WNQLSLLPVP | YSKEQIQMDD | YGLCQCCKAL | IEFTKPFVEE | VIDNKENSLE | ||||
| NEKLKDELLK | FCFKSLKCPL | LTAQFFEQSE | EGGNDPFRYF | ASEIIGFLSA | ||||
| IGHPFPKMIF | NHGRKKRTWN | YLEFEEEENK | QLADSMASLA | YLVFVQGIHI | ||||
| DQLPMVLSPL | YLLQFNMGHI | EVFLQRTEES | VISKGLELLE | NSLLRIEDNS | ||||
| LLYQYLEIKS | FLTVPQGLVK | VMTLCPIETL | RKKSLAMLQL | YINKLDSQGK | ||||
| YTLFRCLLNT | SNHSGVEAFI | IQNIKNQIDM | SLKRTRNNKW | FTGPQLISLL | ||||
| DLVLFLPEGA | ETDLLQNSDR | IMASLNLLRY | LVIKDNENDN | QTGLWTELGN | ||||
| IENNFLKPLH | IGLNMSKAHY | EAEIKNSQEA | QKSKDLCSIT | VSGEEIPNMP | ||||
| PEMQLKVLHS | ALFTFDLIES | VLARVEELIE | IKTKSTSEEN | IGIK |
Funkcija
Ovaj gen kodira fosforilirani protein koji je član Skp1-kulin-F-kutijskog kompleksa. Protein je neophodan za normalan razvoj vaskulature; mutacije ovog gena povezane su sa glomuvenoznim malformacijama, koje se takođe nazivaju glomangiomi. Opisane su alternativno prerađene varijante koje kodiraju različite izoforme proteina, ali je određena priroda pune dužine samo jednog.[6]
Interakcije
Pokazalo se da je GLMN u interakciji sa FKBP4,[5][8] C-Met[9] i FKBP1A.[5][8]
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000174842 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029276 - Ensembl, maj 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.
- ^ a b c Chambraud B, Radanyi C, Camonis JH, Shazand K, Rajkowski K, Baulieu EE (Jan 1997). "FAP48, a new protein that forms specific complexes with both immunophilins FKBP59 and FKBP12. Prevention by the immunosuppressant drugs FK506 and rapamycin". J Biol Chem. 271 (51): 32923–9. doi:10.1074/jbc.271.51.32923. PMID 8955134.
- ^ a b "Entrez Gene: GLMN glomulin, FKBP associated protein".
- ^ "UniProt, Q92990" (jezik: eng.). Pristupljeno 28. 11. 2021.CS1 održavanje: nepoznati jezik (link)
- ^ a b Neye, H (Mar 2001). "Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52". Regul. Pept. Netherlands. 97 (2–3): 147–52. doi:10.1016/S0167-0115(00)00206-8. ISSN 0167-0115. PMID 11164950. S2CID 20617551.
- ^ Grisendi, S; Chambraud B; Gout I; Comoglio P M; Crepaldi T (Dec 2001). "Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor". J. Biol. Chem. United States. 276 (49): 46632–8. doi:10.1074/jbc.M104323200. ISSN 0021-9258. PMID 11571281.
Dopunska literatura
- McIntyre BA, Brouillard P, Aerts V, Gutierrez-Roelens I, Vikkula M (2004). "Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse". Gene Expr. Patterns. 4 (3): 351–58. doi:10.1016/j.modgep.2003.09.007. PMID 15053987.
- Brouillard P, Vikkula M (2003). "Vascular malformations: localized defects in vascular morphogenesis". Clin. Genet. 63 (5): 340–51. doi:10.1034/j.1399-0004.2003.00092.x. PMID 12752563. S2CID 3058248.
- Chambraud B, Radanyi C, Camonis JH, et al. (1999). "Immunophilins, Refsum disease, and lupus nephritis: The peroxisomal enzyme phytanoyl-COA α-hydroxylase is a new FKBP-associated protein". Proc. Natl. Acad. Sci. U.S.A. 96 (5): 2104–9. Bibcode:1999PNAS...96.2104C. doi:10.1073/pnas.96.5.2104. PMC 26744. PMID 10051602.
- Boon LM, Brouillard P, Irrthum A, et al. (1999). "A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22". Am. J. Hum. Genet. 65 (1): 125–33. doi:10.1086/302450. PMC 1378082. PMID 10364524.
- Brouillard P, Olsen BR, Vikkula M (2001). "High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22". Genomics. 67 (1): 96–101. doi:10.1006/geno.2000.6232. PMID 10945476.
- Neye H (2001). "Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52". Regul. Pept. 97 (2–3): 147–52. doi:10.1016/S0167-0115(00)00206-8. PMID 11164950. S2CID 20617551.
- Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
- Grisendi S, Chambraud B, Gout I, et al. (2002). "Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor". J. Biol. Chem. 276 (49): 46632–8. doi:10.1074/jbc.M104323200. PMID 11571281.
- Brouillard P, Boon LM, Mulliken JB, et al. (2002). "Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations ("Glomangiomas")". Am. J. Hum. Genet. 70 (4): 866–74. doi:10.1086/339492. PMC 379115. PMID 11845407.
- 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.
- Krummrei U, Baulieu EE, Chambraud B (2003). "The FKBP-associated protein FAP48 is an antiproliferative molecule and a player in T cell activation that increases IL2 synthesis". Proc. Natl. Acad. Sci. U.S.A. 100 (5): 2444–9. Bibcode:2003PNAS..100.2444K. doi:10.1073/pnas.0438007100. PMC 151360. PMID 12604780.CS1 održavanje: više imena: authors list (link)
- Arai T, Kasper JS, Skaar JR, et al. (2003). "Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis". Proc. Natl. Acad. Sci. U.S.A. 100 (17): 9855–60. Bibcode:2003PNAS..100.9855A. doi:10.1073/pnas.1733908100. PMC 187864. PMID 12904573.
- 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.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
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