Glomulin (GLMN)

FAP; FAP48; FAP68; FKBPAP; GLML; GVM; VMGLOM; FK506-binding protein-associated protein; FKBP Associated Protein; Venous Malformation With Glomus Cells

SPN	S119
HGNC	14373
MGI	2141180
PubMed	22405651
RGD	1588600
UniProt	Q92990
Wiki	GLMN

Glomulin 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.

The cDNA sequence encodes a protein of 417 amino acids. This novel protein, named FAP48 for FKBP-associated protein, can interact with FKBP59 and FKBP12 both in vitro and in vivo; however, binding is inhibited by FK506 and rapamycin in a dose-dependent manner. FAP48 may therefore represent a naturally occurring ligand of these immunosuppressant drug receptors.

Reference

"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. 271:32923-32929(1996) [PubMed] [Europe PMC] [Abstract]

"Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor."
J. Biol. Chem. 276:46632-46638(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ('glomangiomas')."
Am. J. Hum. Genet. 70:866-874(2002) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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. 100:2444-2449(2003) [PubMed] [Europe PMC] [Abstract]

"Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52."
Regul. Pept. 97:147-152(2001) [PubMed] [Europe PMC] [Abstract]

"Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis."
Proc. Natl. Acad. Sci. U.S.A. 100:9855-9860(2003) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]