ENSG00000104833


Homo sapiens

Features
Gene ID: ENSG00000104833
  
Biological name :TUBB4A
  
Synonyms : P04350 / TUBB4A / tubulin beta 4A class IVa
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.3
Gene start: 6494319
Gene end: 6502848
  
Corresponding Affymetrix probe sets: 212664_at (Human Genome U133 Plus 2.0 Array)   213476_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472375
Ensembl peptide - ENSP00000472481
Ensembl peptide - ENSP00000472795
Ensembl peptide - ENSP00000264071
Ensembl peptide - ENSP00000468843
Ensembl peptide - ENSP00000469560
Ensembl peptide - ENSP00000469660
Ensembl peptide - ENSP00000469936
Ensembl peptide - ENSP00000470627
Ensembl peptide - ENSP00000470983
Ensembl peptide - ENSP00000471320
Ensembl peptide - ENSP00000471503
Ensembl peptide - ENSP00000471880
NCBI entrez gene - 10382     See in Manteia.
OMIM - 602662
RefSeq - NM_001289127
RefSeq - NM_001289129
RefSeq - NM_001289130
RefSeq - NM_001289131
RefSeq - NM_006087
RefSeq - NM_001289123
RefSeq Peptide - NP_001276056
RefSeq Peptide - NP_001276058
RefSeq Peptide - NP_001276059
RefSeq Peptide - NP_001276060
RefSeq Peptide - NP_006078
RefSeq Peptide - NP_001276052
swissprot - P04350
swissprot - M0QX14
swissprot - M0QY37
swissprot - M0QY85
swissprot - M0QYM7
swissprot - M0QZL7
swissprot - M0R042
swissprot - M0R0M1
swissprot - M0R0X0
swissprot - M0R1I1
swissprot - M0R278
swissprot - M0R2D3
swissprot - M0R2T4
Ensembl - ENSG00000104833
  
Related genetic diseases (OMIM): 128101 - Dystonia 4, torsion, autosomal dominant, 128101
  612438 - Leukodystrophy, hypomyelinating, 6, 612438
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
 tubb2bENSDARG00000098591Danio rerio
 zgc:55461ENSDARG00000041723Danio rerio
 Q9D6F9ENSMUSG00000062591Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P68371 / TUBB4B / tubulin beta 4B class IVbENSG0000018822999
Q9BVA1 / TUBB2B / tubulin beta 2B class IIbENSG0000013728596
TUBB / P07437 / tubulin beta class IENSG0000019623096
Q13885 / TUBB2A / tubulin beta 2A class IIaENSG0000013726795
TUBB3 / Q13509 / tubulin beta 3 class IIIENSG0000025894792
TUBB6 / Q9BUF5 / tubulin beta 6 class VENSG0000017601492
TUBB8 / Q3ZCM7 / tubulin beta 8 class VIIIENSG0000026145690
AC092143.1ENSG0000019821189
A6NNZ2 / TUBB8P12 / tubulin beta 8 pseudogene 12ENSG0000017321388
TUBB1 / Q9H4B7 / tubulin beta 1 class VIENSG0000010116279
TUBE1 / Q9UJT0 / tubulin epsilon 1ENSG0000007493534
TUBD1 / Q9UJT1 / tubulin delta 1ENSG0000010842322
MC1R / Q01726 / melanocortin 1 receptorENSG000002588392


Protein motifs (from Interpro)
Interpro ID Name
 IPR000217  Tubulin
 IPR002453  Beta tubulin
 IPR003008  Tubulin/FtsZ, GTPase domain
 IPR004057  Epsilon tubulin
 IPR008280  Tubulin/FtsZ, C-terminal
 IPR013838  Beta tubulin, autoregulation binding site
 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:0031115 negative regulation of microtubule polymerization IMP
 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:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0033269 internode region of axon IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton IEA
 molecular_functionGO:0005509 calcium ion binding IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP 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:0000182 Movement abnormalities of the tongue 
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 HP:0000194 Open mouth 
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 HP:0000473 Torticollis 
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 HP:0000643 Blepharospasm "An involuntary recurrent spasm of both eyelids." [HPO:curators]
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 HP:0000726 Dementia 
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002075 Dysdiadochokinesis "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators]
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 HP:0002098 Respiratory distress 
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 HP:0002751 Kyphoscoliosis 
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 HP:0003782 Eunuchoid habitus 
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 HP:0007325 Generalized dystonia 
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 HP:0007351 Upper limb postural tremor 
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 HP:0009938 Sunken cheeks 
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 HP:0012049 Laryngeal dystonia "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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