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Protein-coding gene in the species Homo sapiens
Glomulin is a protein that in humans is encoded by the GLMN gene .[5] [6]
This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas . Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[6]
Interactions [ edit ] GLMN has been shown to interact with FKBP4 ,[5] [7] C-Met [8] FKBP1A .[5] [7]
References [ edit ]
^ a b c GRCh38: Ensembl release 89: ENSG00000174842 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029276 – 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 .^ 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" .^ 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 . 97 (2–3). Netherlands: 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 . 276 (49). United States: 46632–8. doi :10.1074/jbc.M104323200 ISSN 0021-9258 . PMID 11571281 .
Further reading [ edit ]
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 . {{cite journal }}: CS1 maint: multiple names: 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 .
