ENSG00000146926


Homo sapiens

Features
Gene ID: ENSG00000146926
  
Biological name :ASB10
  
Synonyms : ankyrin repeat and SOCS box containing 10 / ASB10 / Q8WXI3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q36.1
Gene start: 151175698
Gene end: 151187832
  
Corresponding Affymetrix probe sets: 1553039_a_at (Human Genome U133 Plus 2.0 Array)   1564536_at (Human Genome U133 Plus 2.0 Array)   1564537_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000410871
Ensembl peptide - ENSP00000275838
Ensembl peptide - ENSP00000367098
Ensembl peptide - ENSP00000391137
NCBI entrez gene - 136371     See in Manteia.
OMIM - 615054
RefSeq - NM_001142459
RefSeq - NM_080871
RefSeq - NM_001142460
RefSeq Peptide - NP_001135931
RefSeq Peptide - NP_543147
RefSeq Peptide - NP_001135932
swissprot - Q8WXI3
swissprot - A0A090N8I2
swissprot - F8WB38
Ensembl - ENSG00000146926
  
Related genetic diseases (OMIM): 603383 - Glaucoma 1, open angle, F, 603383
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
 asb10ENSDARG00000099461Danio rerio
 ASB10ENSGALG00000032845Gallus gallus
 Asb10ENSMUSG00000038204Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ASB18 / Q6ZVZ8 / ankyrin repeat and SOCS box containing 18ENSG0000018217740
ASB16 / Q96NS5 / ankyrin repeat and SOCS box containing 16ENSG0000016166435
ASB4 / Q9Y574 / ankyrin repeat and SOCS box containing 4ENSG0000000598129


Protein motifs (from Interpro)
Interpro ID Name
 IPR001496  SOCS box domain
 IPR002110  Ankyrin repeat
 IPR020683  Ankyrin repeat-containing domain
 IPR036036  SOCS box-like domain superfamily
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0043687 post-translational protein modification TAS
 cellular_componentGO:0000151 ubiquitin ligase complex IBA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IBA


Pathways (from Reactome)
Pathway description
Neddylation
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:0007854 Glaucomatous visual field defects 
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 HP:0007906 Increased intraocular pressure 
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 HP:0012108 Primary open angle glaucoma "A type of glaucoma with optic nerve damage in an eye with evidence of significant obstruction of the functional trabecular meshwork by the peripheral iris would be classified as having primary angle closure." [HPO:probinson, pmid:11815354]
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 HP:0012796 Increased cup-to-disc ratio "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefoy may indicate a decrease in the quantity of healthy neuroretinal cells." [HPO:probinson, pmid:23557744]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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