ENSG00000101752


Homo sapiens

Features
Gene ID: ENSG00000101752
  
Biological name :MIB1
  
Synonyms : MIB1 / mindbomb E3 ubiquitin protein ligase 1 / Q86YT6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q11.2
Gene start: 21704957
Gene end: 21870957
  
Corresponding Affymetrix probe sets: 224720_at (Human Genome U133 Plus 2.0 Array)   224722_at (Human Genome U133 Plus 2.0 Array)   224725_at (Human Genome U133 Plus 2.0 Array)   224726_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000261537
NCBI entrez gene - 57534     See in Manteia.
OMIM - 608677
RefSeq - NM_020774
RefSeq - XM_017025873
RefSeq Peptide - NP_065825
swissprot - Q86YT6
Ensembl - ENSG00000101752
  
Related genetic diseases (OMIM): 615092 - Left ventricular noncompaction 7, 615092
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
 mib1ENSDARG00000102184Danio rerio
 MIB1ENSGALG00000014974Gallus gallus
 Mib1ENSMUSG00000024294Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MIB2 / Q96AX9 / mindbomb E3 ubiquitin protein ligase 2ENSG0000019753039
Q8WXD9 / CASKIN1 / CASK interacting protein 1ENSG0000016797113
Q8WXE0 / CASKIN2 / CASK interacting protein 2ENSG0000017730312
ANKS1A / Q92625 / ankyrin repeat and sterile alpha motif domain containing 1AENSG0000006499912
ANKS1B / Q7Z6G8 / ankyrin repeat and sterile alpha motif domain containing 1BENSG0000018504612
Q495B1 / ANKDD1A / ankyrin repeat and death domain containing 1AENSG0000016683910
ANKRD6 / Q9Y2G4 / ankyrin repeat domain 6ENSG0000013529910
A6NHY2 / ANKDD1B / ankyrin repeat and death domain containing 1BENSG000001890458


Protein motifs (from Interpro)
Interpro ID Name
 IPR000433  Zinc finger, ZZ-type
 IPR001841  Zinc finger, RING-type
 IPR002110  Ankyrin repeat
 IPR010606  Mib-herc2
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily
 IPR037252  Mib/herc2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001568 blood vessel development IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0001841 neural tube formation IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0006897 endocytosis IBA
 biological_processGO:0007219 Notch signaling pathway IBA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0045665 negative regulation of neuron differentiation IEA
 biological_processGO:0045807 positive regulation of endocytosis IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH2 Activation and Transmission of Signal to the Nucleus
NOTCH3 Activation and Transmission of Signal to the Nucleus


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:0011664 Non-compaction cardiomyopathy "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [pmid:17916581]
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 HP:0030682 Left ventricular noncompaction "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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