ENSG00000167552


Homo sapiens

Features
Gene ID: ENSG00000167552
  
Biological name :TUBA1A
  
Synonyms : Q71U36 / TUBA1A / tubulin alpha 1a
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.12
Gene start: 49184796
Gene end: 49189324
  
Corresponding Affymetrix probe sets: 201090_x_at (Human Genome U133 Plus 2.0 Array)   209118_s_at (Human Genome U133 Plus 2.0 Array)   211058_x_at (Human Genome U133 Plus 2.0 Array)   212639_x_at (Human Genome U133 Plus 2.0 Array)   213646_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449016
Ensembl peptide - ENSP00000446613
Ensembl peptide - ENSP00000439020
Ensembl peptide - ENSP00000301071
Ensembl peptide - ENSP00000450268
Ensembl peptide - ENSP00000446637
Ensembl peptide - ENSP00000448725
NCBI entrez gene - 7846     See in Manteia.
OMIM - 602529
RefSeq - NM_001270400
RefSeq - NM_001270399
RefSeq - NM_006009
RefSeq Peptide - NP_001257328
RefSeq Peptide - NP_006000
RefSeq Peptide - NP_001257329
swissprot - Q71U36
swissprot - F8VQQ4
swissprot - F8VRZ4
swissprot - F8VXZ7
swissprot - F8W0F6
Ensembl - ENSG00000167552
  
Related genetic diseases (OMIM): 611603 - Lissencephaly 3, 611603
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
 TUBA1AENSGALG00000037953Gallus gallus
 P68369ENSMUSG00000072235Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P68363 / TUBA1B / tubulin alpha 1bENSG00000123416100
Q13748 / TUBA3C / tubulin alpha 3cENSG0000019803398
Q13748 / TUBA3D / tubulin alpha 3dENSG0000007588698
Q9BQE3 / TUBA1C / tubulin alpha 1cENSG0000016755398
P68366 / TUBA4A / tubulin alpha 4aENSG0000012782496
Q6PEY2 / TUBA3E / tubulin alpha 3eENSG0000015208696
Q9H853 / TUBA4B / tubulin alpha 4bENSG0000024391039


Protein motifs (from Interpro)
Interpro ID Name
 IPR000217  Tubulin
 IPR002452  Alpha 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:0007010 cytoskeleton organization IEA
 biological_processGO:0007017 microtubule-based process IEA
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0030705 cytoskeleton-dependent intracellular transport TAS
 biological_processGO:0051301 cell division TAS
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005881 cytoplasmic microtubule IEA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IDA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0055037 recycling endosome IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005198 structural molecule activity TAS
 molecular_functionGO:0005200 structural constituent of cytoskeleton IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA


Pathways (from Reactome)
Pathway description
Translocation of SLC2A4 (GLUT4) to the plasma membrane
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
Gap junction assembly
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
HSP90 chaperone cycle for steroid hormone receptors (SHR)
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
Prefoldin mediated transfer of substrate to CCT/TriC
Formation of tubulin folding intermediates by CCT/TriC
Post-chaperonin tubulin folding pathway
Recycling pathway of L1
Hedgehog off state
Cilium Assembly
Anchoring of the basal body to the plasma membrane
Intraflagellar transport
RHO GTPases activate IQGAPs
RHO GTPases Activate Formins
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
The role of GTSE1 in G2/M progression after G2 checkpoint
AURKA Activation by TPX2
Carboxyterminal post-translational modifications of tubulin
Kinesins


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: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:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001270 Motor retardation 
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 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001302 Pachygyria "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators]
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0002282 Heterotopia 
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 HP:0002365 Hypoplasia of the brainstem 
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 HP:0002510 Spastic tetraplegia "Spastic paralysis affecting all four limbs." [HPO:curators]
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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