ENSG00000131462


Homo sapiens

Features
Gene ID: ENSG00000131462
  
Biological name :TUBG1
  
Synonyms : P23258 / TUBG1 / tubulin gamma 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.2
Gene start: 42609676
Gene end: 42615234
  
Corresponding Affymetrix probe sets: 201714_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464867
Ensembl peptide - ENSP00000465582
Ensembl peptide - ENSP00000251413
NCBI entrez gene - 7283     See in Manteia.
OMIM - 191135
RefSeq - NM_001070
RefSeq Peptide - NP_001061
swissprot - P23258
swissprot - K7EIS0
swissprot - K7EKE5
Ensembl - ENSG00000131462
  
Related genetic diseases (OMIM): 615412 - Cortical dysplasia, complex, with other brain malformations 4, 615412
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
 tubg1ENSDARG00000015610Danio rerio
 ENSGALG00000030003Gallus gallus
 Tubg1ENSMUSG00000035198Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TUBG2 / Q9NRH3 / tubulin gamma 2ENSG0000003704298


Protein motifs (from Interpro)
Interpro ID Name
 IPR000217  Tubulin
 IPR002454  Gamma tubulin
 IPR003008  Tubulin/FtsZ, GTPase domain
 IPR008280  Tubulin/FtsZ, C-terminal
 IPR017975  Tubulin, conserved site
 IPR018316  Tubulin/FtsZ, 2-layer sandwich domain
 IPR036525  Tubulin/FtsZ, GTPase domain superfamily
 IPR037103  Tubulin/FtsZ, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle TAS
 biological_processGO:0000212 meiotic spindle organization IEA
 biological_processGO:0000226 microtubule cytoskeleton organization TAS
 biological_processGO:0007017 microtubule-based process IEA
 biological_processGO:0007020 microtubule nucleation IEA
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0031122 cytoplasmic microtubule organization IEA
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 cellular_componentGO:0000242 pericentriolar material IEA
 cellular_componentGO:0000794 condensed nuclear chromosome IEA
 cellular_componentGO:0000930 gamma-tubulin complex IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005827 polar microtubule IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005876 spindle microtubule IEA
 cellular_componentGO:0005881 cytoplasmic microtubule IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0031252 cell leading edge IEA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0045177 apical part of cell IEA
 cellular_componentGO:0055037 recycling endosome IDA
 cellular_componentGO:0097730 non-motile cilium IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2


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:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0002510 Spastic tetraplegia "Spastic paralysis affecting all four limbs." [HPO:curators]
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 HP:0002539 Cortical dysplasia 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000126216 Q96CW5 / TUBGCP3 / tubulin gamma complex associated protein 3  / complex
 ENSG00000037042 TUBG2 / Q9NRH3 / tubulin gamma 2  / complex
 ENSG00000130640 Q9BSJ2 / TUBGCP2 / tubulin gamma complex associated protein 2  / complex






 

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