ENSG00000132963


Homo sapiens

Features
Gene ID: ENSG00000132963
  
Biological name :POMP
  
Synonyms : POMP / proteasome maturation protein / Q9Y244
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q12.3
Gene start: 28659104
Gene end: 28678925
  
Corresponding Affymetrix probe sets: 217769_s_at (Human Genome U133 Plus 2.0 Array)   222402_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000370222
Ensembl peptide - ENSP00000492579
NCBI entrez gene - 51371     See in Manteia.
OMIM - 613386
RefSeq - NM_015932
RefSeq Peptide - NP_057016
swissprot - A0A1W2PS02
swissprot - Q9Y244
Ensembl - ENSG00000132963
  
Related genetic diseases (OMIM): 601952 - Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952
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
 pompENSDARG00000032296Danio rerio
 POMPENSGALG00000017090Gallus gallus
 PompENSMUSG00000029649Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR008012  Proteasome maturation factor Ump1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0043248 proteasome assembly IEA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001036 Parakeratosis 
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 HP:0001795 Hyperconvex nails "Fingernails or toenails that show an exaggeratedly convex form." [HPO:curators]
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 HP:0007465 Honeycomb palmoplantar keratoderma 
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 HP:0007479 Congenital nonbullous ichthyosiform erythroderma 
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 HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas 
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0008404 Nail dystrophy, variable 
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 HP:0009775 Amniotic bands "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strangs." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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