ENSG00000101162


Homo sapiens

Features
Gene ID: ENSG00000101162
  
Biological name :TUBB1
  
Synonyms : Q9H4B7 / TUBB1 / tubulin beta 1 class VI
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q13.32
Gene start: 59019254
Gene end: 59026654
  
Corresponding Affymetrix probe sets: 208601_s_at (Human Genome U133 Plus 2.0 Array)   230690_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000217133
NCBI entrez gene - 81027     See in Manteia.
OMIM - 612901
RefSeq - NM_030773
RefSeq - XM_017028085
RefSeq Peptide - NP_110400
swissprot - Q9H4B7
Ensembl - ENSG00000101162
  
Related genetic diseases (OMIM): 613112 - Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112
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
 tubb1ENSDARG00000053066Danio rerio
 TUBB1ENSGALG00000007447Gallus gallus
 Tubb1ENSMUSG00000016255Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P04350 / TUBB4A / tubulin beta 4A class IVaENSG0000010483378
Q13885 / TUBB2A / tubulin beta 2A class IIaENSG0000013726778
Q9BVA1 / TUBB2B / tubulin beta 2B class IIbENSG0000013728578
P68371 / TUBB4B / tubulin beta 4B class IVbENSG0000018822978
TUBB3 / Q13509 / tubulin beta 3 class IIIENSG0000025894778
TUBB6 / Q9BUF5 / tubulin beta 6 class VENSG0000017601477
TUBB / P07437 / tubulin beta class IENSG0000019623077
TUBB8 / Q3ZCM7 / tubulin beta 8 class VIIIENSG0000026145676
AC092143.1ENSG0000019821175
A6NNZ2 / TUBB8P12 / tubulin beta 8 pseudogene 12ENSG0000017321374
TUBE1 / Q9UJT0 / tubulin epsilon 1ENSG0000007493532
TUBD1 / Q9UJT1 / tubulin delta 1ENSG0000010842321
MC1R / Q01726 / melanocortin 1 receptorENSG000002588391


Protein motifs (from Interpro)
Interpro ID Name
 IPR000217  Tubulin
 IPR002453  Beta tubulin
 IPR003008  Tubulin/FtsZ, GTPase domain
 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:0007017 microtubule-based process IEA
 biological_processGO:0051225 spindle assembly IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule 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: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
HSP90 chaperone cycle for steroid hormone receptors (SHR)
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
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
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:0040185 Macrothrombocytopenia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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