ENSG00000174842


Homo sapiens

Features
Gene ID: ENSG00000174842
  
Biological name :GLMN
  
Synonyms : GLMN / glomulin, FKBP associated protein / Q92990
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p22.1
Gene start: 92246402
Gene end: 92298987
  
Corresponding Affymetrix probe sets: 207153_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359385
Ensembl peptide - ENSP00000436829
Ensembl peptide - ENSP00000468973
Ensembl peptide - ENSP00000469157
NCBI entrez gene - 11146     See in Manteia.
OMIM - 601749
RefSeq - XM_017000144
RefSeq - XM_017000139
RefSeq - XM_017000140
RefSeq - XM_017000141
RefSeq - XM_017000142
RefSeq - XM_017000143
RefSeq - NM_001319683
RefSeq - NM_053274
RefSeq - XM_005270401
RefSeq - XM_006710309
RefSeq - XM_011540546
RefSeq - XM_017000137
RefSeq - XM_017000138
RefSeq Peptide - NP_001306612
RefSeq Peptide - NP_444504
swissprot - M0QXG8
swissprot - Q92990
swissprot - M0QX84
Ensembl - ENSG00000174842
  
Related genetic diseases (OMIM): 138000 - Glomuvenous malformations, 138000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 glmnaENSDARG00000058267Danio rerio
 glmnbENSDARG00000010958Danio rerio
 GLMNENSGALG00000005959Gallus gallus
 GlmnENSMUSG00000029276Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR013877  YAP-binding/ALF4/Glomulin
 IPR019516  Glomulin/ALF4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001570 vasculogenesis IMP
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0031397 negative regulation of protein ubiquitination IEA
 biological_processGO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0040029 regulation of gene expression, epigenetic IMP
 biological_processGO:0042130 negative regulation of T cell proliferation IDA
 biological_processGO:0042327 positive regulation of phosphorylation IDA
 biological_processGO:0042692 muscle cell differentiation IMP
 biological_processGO:0045086 positive regulation of interleukin-2 biosynthetic process IMP
 biological_processGO:0050715 positive regulation of cytokine secretion IMP
 biological_processGO:0072359 circulatory system development IEA
 cellular_componentGO:0005622 intracellular NAS
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0031461 cullin-RING ubiquitin ligase complex IPI
 cellular_componentGO:0031462 Cul2-RING ubiquitin ligase complex IPI
 cellular_componentGO:0031463 Cul3-RING ubiquitin ligase complex IPI
 cellular_componentGO:0031464 Cul4A-RING E3 ubiquitin ligase complex IPI
 molecular_functionGO:0005171 hepatocyte growth factor receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IDA
 molecular_functionGO:0055105 ubiquitin-protein transferase inhibitor activity IGI


Pathways (from Reactome)
Pathway description
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000951 Abnormality of the skin "An abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0001939 Metabolism abnormality 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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