| 释义 |
- Interactions
- References
- Further reading
{{Infobox_gene}}Glomulin is a protein that in humans is encoded by the GLMN gene.[1][2]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.[2] InteractionsGLMN has been shown to interact with FKBP52,[1][3] C-Met[4] and FKBP1A.[1][3] References1. ^1 2 {{cite journal |vauthors=Chambraud B, Radanyi C, Camonis JH, Shazand K, Rajkowski K, Baulieu EE | title = FAP48, a new protein that forms specific complexes with both immunophilins FKBP59 and FKBP12. Prevention by the immunosuppressant drugs FK506 and rapamycin | journal = J Biol Chem | volume = 271 | issue = 51 | pages = 32923–9 |date=Jan 1997 | pmid = 8955134 | pmc = | doi =10.1074/jbc.271.51.32923 }}
2. ^1 {{cite web | title = Entrez Gene: GLMN glomulin, FKBP associated protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11146| accessdate = }}
3. ^1 {{cite journal |doi=10.1016/S0167-0115(00)00206-8 |last=Neye |first=H |date=Mar 2001 |title=Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52 |journal=Regul. Pept. |volume=97 |issue=2–3 |pages=147–52 |publisher= |location = Netherlands| issn = 0167-0115| pmid = 11164950 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}
4. ^{{cite journal |last=Grisendi |first=S |authorlink= |author2=Chambraud B |author3=Gout I |author4=Comoglio P M |author5=Crepaldi T |date=Dec 2001 |title=Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor |journal=J. Biol. Chem. |volume=276 |issue=49 |pages=46632–8 |publisher= |location = United States| issn = 0021-9258| pmid = 11571281 |doi = 10.1074/jbc.M104323200 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=McIntyre BA, Brouillard P, Aerts V, Gutierrez-Roelens I, Vikkula M |title=Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse |journal=Gene Expr. Patterns |volume=4 |issue= 3 |pages= 351–58 |year= 2004 |pmid= 15053987 |doi=10.1016/j.modgep.2003.09.007 }}
- {{cite journal |vauthors=Brouillard P, Vikkula M |title=Vascular malformations: localized defects in vascular morphogenesis |journal=Clin. Genet. |volume=63 |issue= 5 |pages= 340–51 |year= 2003 |pmid= 12752563 |doi=10.1034/j.1399-0004.2003.00092.x }}
- {{cite journal |vauthors=Chambraud B, Radanyi C, Camonis JH |title=Immunophilins, Refsum disease, and lupus nephritis: The peroxisomal enzyme phytanoyl-COA α-hydroxylase is a new FKBP-associated protein |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 5 |pages= 2104–9 |year= 1999 |pmid= 10051602 |doi=10.1073/pnas.96.5.2104 | pmc=26744 |display-authors=etal|bibcode=1999PNAS...96.2104C}}
- {{cite journal |vauthors=Boon LM, Brouillard P, Irrthum A |title=A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22 |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 125–33 |year= 1999 |pmid= 10364524 |doi=10.1086/302450 | pmc=1378082 |display-authors=etal}}
- {{cite journal |vauthors=Brouillard P, Olsen BR, Vikkula M |title=High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22 |journal=Genomics |volume=67 |issue= 1 |pages= 96–101 |year= 2001 |pmid= 10945476 |doi= 10.1006/geno.2000.6232 }}
- {{cite journal | author=Neye H |title=Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52 |journal=Regul. Pept. |volume=97 |issue= 2–3 |pages= 147–52 |year= 2001 |pmid= 11164950 |doi=10.1016/S0167-0115(00)00206-8 }}
- {{cite journal |vauthors=Harrington JJ, Sherf B, Rundlett S |title=Creation of genome-wide protein expression libraries using random activation of gene expression |journal=Nat. Biotechnol. |volume=19 |issue= 5 |pages= 440–5 |year= 2001 |pmid= 11329013 |doi= 10.1038/88107 |display-authors=etal}}
- {{cite journal |vauthors=Grisendi S, Chambraud B, Gout I |title=Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor |journal=J. Biol. Chem. |volume=276 |issue= 49 |pages= 46632–8 |year= 2002 |pmid= 11571281 |doi= 10.1074/jbc.M104323200 |display-authors=etal}}
- {{cite journal |vauthors=Brouillard P, Boon LM, Mulliken JB |title=Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations ("Glomangiomas") |journal=Am. J. Hum. Genet. |volume=70 |issue= 4 |pages= 866–74 |year= 2002 |pmid= 11845407 |doi=10.1086/339492 | pmc=379115 |display-authors=etal}}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal|bibcode=2002PNAS...9916899M }}
- {{cite journal | author=Krummrei U, Baulieu EE, Chambraud B |title=The FKBP-associated protein FAP48 is an antiproliferative molecule and a player in T cell activation that increases IL2 synthesis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 5 |pages= 2444–9 |year= 2003 |pmid= 12604780 |doi= 10.1073/pnas.0438007100 | pmc=151360 |bibcode=2003PNAS..100.2444K }}
- {{cite journal |vauthors=Arai T, Kasper JS, Skaar JR |title=Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 17 |pages= 9855–60 |year= 2003 |pmid= 12904573 |doi= 10.1073/pnas.1733908100 | pmc=187864 |display-authors=etal|bibcode=2003PNAS..100.9855A }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
- {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |display-authors=etal}}
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