Property Summary

NCBI Gene PubMed Count 20
PubMed Score 72.99
PubTator Score 21.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Expression

  Differential Expression (4)

Disease log2 FC p
oligodendroglioma -1.100 0.024
astrocytoma -1.100 0.004
glioblastoma -1.100 0.001
lung cancer 1.800 0.003

Synonym

Accession Q92990 Q5VVC3 Q9BVE8
Symbols FAP
GVM
GLML
FAP48
FAP68
FKBPAP
VMGLOM

Gene

PDB

4F52  

  Ortholog (11)

Pathway (1)

Gene RIF (8)

PMID Text
24961656 Our report contributes to document the possible association between the c.395-1G>C mutation of GLMN gene and glomuvenous malformations.
22748924 Structural and biochemical analyses reveal that GLMN adopts a HEAT-like repeat fold that tightly binds the E2-interacting surface of RBX1, inhibiting CRL-mediated chain formation by the E2 CDC34.
22678819 FAP48 adipocyte expression plays a key role in HIV-associated lipodystrophy.
22405651 The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin-1 RING ligase-mediated turnover of Fbw7.
22280104 These data identify glomulin as a permissivity factor for VACV infection and as a potential therapeutic target for inhibition of vaccinia virus (VACV) infection.
22092580 A novel GLMN mutation is described in an Italian family with glomuvenous malformations in which some members present with the less commonly observed phenotype of solitary lesions.
12604780 FAP48-FKBP complexes increase IL2 production
11845407 Describes the characterizations of 14 different mutations in the glomulin gene in patients with glomuvenous malformations.

AA Sequence

MAVEELQSIIKRCQILEEQDFKEEDFGLFQLAGQRCIEEGHTDQLLEIIQNEKNKVIIKNMGWNLVGPVV      1 - 70
RCLLCKDKEDSKRKVYFLIFDLLVKLCNPKELLLGLLELIEEPSGKQISQSILLLLQPLQTVIQKLHNKA     71 - 140
YSIGLALSTLWNQLSLLPVPYSKEQIQMDDYGLCQCCKALIEFTKPFVEEVIDNKENSLENEKLKDELLK    141 - 210
FCFKSLKCPLLTAQFFEQSEEGGNDPFRYFASEIIGFLSAIGHPFPKMIFNHGRKKRTWNYLEFEEEENK    211 - 280
QLADSMASLAYLVFVQGIHIDQLPMVLSPLYLLQFNMGHIEVFLQRTEESVISKGLELLENSLLRIEDNS    281 - 350
LLYQYLEIKSFLTVPQGLVKVMTLCPIETLRKKSLAMLQLYINKLDSQGKYTLFRCLLNTSNHSGVEAFI    351 - 420
IQNIKNQIDMSLKRTRNNKWFTGPQLISLLDLVLFLPEGAETDLLQNSDRIMASLNLLRYLVIKDNENDN    421 - 490
QTGLWTELGNIENNFLKPLHIGLNMSKAHYEAEIKNSQEAQKSKDLCSITVSGEEIPNMPPEMQLKVLHS    491 - 560
ALFTFDLIESVLARVEELIEIKTKSTSEENIGIK                                        561 - 594
//

Text Mined References (25)

PMID Year Title
24961656 2014 Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22748924 2012 Structure of a glomulin-RBX1-CUL1 complex: inhibition of a RING E3 ligase through masking of its E2-binding surface.
22678819 2012 Role of FAP48 in HIV-associated lipodystrophy.
22405651 2012 The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7.
22280104 2012 Glomulin: a permissivity factor for vaccinia virus infection.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22092580 2011 A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.
21269460 2011 Initial characterization of the human central proteome.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
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