GLMN

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

PDBOrtholog search: PDBe RCSB

AliasesGLMN, FAP, FAP48, FAP68, FKBPAP, GLML, GVM, VMGLOM, glomulin, FKBP associated protein

External IDsOMIM: 601749; MGI: 2141180; HomoloGene: 14239; GeneCards: GLMN; OMA:GLMN - orthologs

Chr.Chromosome 1 (human)^[1]

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GLMN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4F52
Identifiers
Aliases	GLMN, FAP, FAP48, FAP68, FKBPAP, GLML, GVM, VMGLOM, glomulin, FKBP associated protein
External IDs	OMIM: 601749; MGI: 2141180; HomoloGene: 14239; GeneCards: GLMN; OMA:GLMN - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p22.1 Start 92,246,402 bp[1] End 92,298,987 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 F Start 107,696,833 bp[2] End 107,745,754 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad testicle cerebellar hemisphere right hemisphere of cerebellum gastric mucosa Brodmann area 9 right frontal lobe granulocyte left ovary right ovary Top expressed in neural layer of retina spermatocyte spermatid zygote secondary oocyte tail of embryo primary oocyte epiblast embryo otic placode More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ubiquitin-protein transferase inhibitor activity protein binding ubiquitin protein ligase binding hepatocyte growth factor receptor binding Cellular component Cul4A-RING E3 ubiquitin ligase complex Cul2-RING ubiquitin ligase complex cullin-RING ubiquitin ligase complex Cul3-RING ubiquitin ligase complex intracellular anatomical structure cytoplasm Biological process vasculogenesis muscle cell differentiation negative regulation of T cell proliferation neural tube closure positive regulation of phosphorylation circulatory system development regulation of gene expression, epigenetic regulation of proteasomal ubiquitin-dependent protein catabolic process negative regulation of protein ubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11146 170823 Ensembl ENSG00000174842 ENSMUSG00000029276 UniProt Q92990 Q8BZM1 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 Mb Chr 5: 107.7 – 107.75 Mb PubMed search [3] [4]
Wikidata
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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]