GLMN
entrez
11146
canonical
uniprot
Q92990
canonical
ensembl
ENSG00000174842
resolver
ensp
ENSP00000359385
resolver
ensp
ENSP00000469157
resolver
ensp
ENSP00000566670
resolver
ensp
ENSP00000601479
resolver
genesymbol
GLMN
resolver
genesymbol_syn
FAP48
resolver
genesymbol_syn
FAP68
resolver
genesymbol_syn
VMGLOM
resolver
hgnc
HGNC:14373
resolver
uniprot
B4DJ85
resolver
uniprot
Q5VVC3
resolver
uniprot
Q9BVE8
resolver
uniprot_entry
B4DJ85_HUMAN
resolver
uniprot_entry
GLMN_HUMAN
resolver
uniprot_sec
Q5VVC3
resolver
uniprot_sec
Q9BVE8
resolver
amino_acid_sequence
MAVEELQSIIKRCQILEEQDFKEEDFGLFQLAGQRCIEEGHTDQLLEIIQNEKNKVIIKNMGWNLVGPVVRCLLCKDKEDSKRKVYFLIFDLLVKLCNPKELLLGLLELIEEPSGKQISQSILLLLQPLQTVIQKLHNKAYSIGLALSTLWNQLSLLPVPYSKEQIQMDDYGLCQCCKALIEFTKPFVEEVIDNKENSLENEKLKDELLKFCFKSLKCPLLTAQFFEQSEEGGNDPFRYFASEIIGFLSAIGHPFPKMIFNHGRKKRTWNYLEFEEEENKQLADSMASLAYLVFVQGIHIDQLPMVLSPLYLLQFNMGHIEVFLQRTEESVISKGLELLENSLLRIEDNSLLYQYLEIKSFLTVPQGLVKVMTLCPIETLRKKSLAMLQLYINKLDSQGKYTLFRCLLNTSNHSGVEAFIIQNIKNQIDMSLKRTRNNKWFTGPQLISLLDLVLFLPEGAETDLLQNSDRIMASLNLLRYLVIKDNENDNQTGLWTELGNIENNFLKPLHIGLNMSKAHYEAEIKNSQEAQKSKDLCSITVSGEEIPNMPPEMQLKVLHSALFTFDLIESVLARVEELIEIKTKSTSEENIGIK
uniprot
proteins
disease_involvement
DISEASE: Glomuvenous malformations (GVMs) [MIM:138000]: Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. {ECO:0000269|PubMed:11845407, ECO:0000269|PubMed:22405651}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Isoform 1]: Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924). Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924). Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651). Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity). Essential for normal development of the vasculature (PubMed:11845407). Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281). {ECO:0000250|UniProtKB:Q8BZM1, ECO:0000269|PubMed:11571281, ECO:0000269|PubMed:11845407, ECO:0000269|PubMed:22405651, ECO:0000269|PubMed:22748924}.
uniprot
proteins
mass_dalton
68208
uniprot
proteins
mutagenesis
MUTAGEN 219; /note="P->A: Loss of interaction with FKBP4 and FKBP1A."; /evidence="ECO:0000269|PubMed:11164950"; MUTAGEN 425; /note="K->A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity."; /evidence="ECO:0000269|PubMed:22748924"; MUTAGEN 476; /note="N->A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity."; /evidence="ECO:0000269|PubMed:22748924"; MUTAGEN 567; /note="L->A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity."; /evidence="ECO:0000269|PubMed:22748924"; MUTAGEN 574; /note="R->A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity."; /evidence="ECO:0000269|PubMed:22748924
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosine residues. {ECO:0000269|PubMed:11571281}.
uniprot
proteins
pubmed
11164950
uniprot
proteins
pubmed
11571281
uniprot
proteins
pubmed
11845407
uniprot
proteins
pubmed
12604780
uniprot
proteins
pubmed
12904573
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22405651
uniprot
proteins
pubmed
22748924
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
8955134
uniprot
proteins
sequence_length
594
uniprot
proteins