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Glomulin is a protein that in humans is encoded by the GLMN gene.[5][6]

GLMN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGLMN, FAP, FAP48, FAP68, FKBPAP, GLML, GVM, VMGLOM, glomulin, FKBP associated protein
External IDsOMIM: 601749 MGI: 2141180 HomoloGene: 14239 GeneCards: GLMN
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for GLMN
Genomic location for GLMN
Band1p22.1Start92,246,402 bp[1]
End92,298,987 bp[1]
RNA expression pattern
PBB GE GLMN 207153 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007070
NM_053274
NM_001319683

NM_001161738
NM_001161739
NM_133248

RefSeq (protein)

NP_001306612
NP_444504

NP_001155210
NP_001155211
NP_573511

Location (UCSC)Chr 1: 92.25 – 92.3 MbChr 5: 107.55 – 107.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

InteractionsEdit

GLMN has been shown to interact with FKBP52,[5][7] C-Met[8] and FKBP1A.[5][7]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000174842 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029276 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c Chambraud B, Radanyi C, Camonis JH, Shazand K, Rajkowski K, Baulieu EE (Jan 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. doi:10.1074/jbc.271.51.32923. PMID 8955134.
  6. ^ a b "Entrez Gene: GLMN glomulin, FKBP associated protein".
  7. ^ a b Neye, H (Mar 2001). "Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52". Regul. Pept. Netherlands. 97 (2–3): 147–52. doi:10.1016/S0167-0115(00)00206-8. ISSN 0167-0115. PMID 11164950.
  8. ^ Grisendi, S; Chambraud B; Gout I; Comoglio P M; Crepaldi T (Dec 2001). "Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor". J. Biol. Chem. United States. 276 (49): 46632–8. doi:10.1074/jbc.M104323200. ISSN 0021-9258. PMID 11571281.

Further readingEdit