GLMN

From Wikipedia, the free encyclopedia

Glomulin, FKBP associated protein

Identifiers

GLMN; FAP; FAP48; FAP68; FKBPAP; GLML; GVM; VMGLOM

External IDs

OMIM: 601749 MGI: 2141180 HomoloGene: 14239

Gene ontology
Molecular Function:	• hepatocyte growth factor receptor binding • protein binding
Cellular Component:	• intracellular
Biological Process:	• vasculogenesis • regulation of gene expression, epigenetic • negative regulation of T cell proliferation • positive regulation of phosphorylation • muscle cell differentiation • positive regulation of interleukin-2 biosynthetic process • positive regulation of cytokine secretion

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_053274 (mRNA)
NP_444504 (protein)

NM_133248 (mRNA)
NP_573511 (protein)

Location

Chr 1: 92.48 - 92.54 Mb

Chr 5: 107.79 - 107.84 Mb

Pubmed search

[1]

[2]

Glomulin, FKBP associated protein, also known as GLMN, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: GLMN glomulin, FKBP associated protein.

[edit] Further reading

Brouillard P, Vikkula M (2003). "Vascular malformations: localized defects in vascular morphogenesis.". Clin. Genet. 63 (5): 340–51. PMID 12752563.
Chambraud B, Radanyi C, Camonis JH, et al. (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. PMID 8955134.
Chambraud B, Radanyi C, Camonis JH, et al. (1999). "Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein.". Proc. Natl. Acad. Sci. U.S.A. 96 (5): 2104–9. 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. 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. PMID 11164950.
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.
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. 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. doi:10.1073/pnas.242603899. 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. doi:10.1073/pnas.0438007100. PMID 12604780.
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. doi:10.1073/pnas.1733908100. 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. 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. PMID 16344560.