• Gene id: 203068

Gene Summary

• Gene Symbol: TUBB   Gene   UCSC   Ensembl
• Aliases: CDCBM6, CSCSC1, M40, OK/SW-cl.56, TUBB1, TUBB5
• Gene name: tubulin beta class I
• Alternate names: tubulin beta chain, beta Ib tubulin, epididymis secretory sperm binding protein, tubulin beta-1 chain, tubulin beta-5 chain, tubulin, beta polypeptide,
• Gene location: 6p21.33 (30720351: 30725421)     Exons: 3     NC_000006.12
• Gene summary(Entrez): This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing re
• OMIM: 191130

Protein Summary

• Protein general information: P07437  
  • Name: Tubulin beta chain (Tubulin beta 5 chain)
  • Length: 444  
  • Mass: 49671
  • Tissue specificity: Ubiquitously expressed with highest levels in spleen, thymus and immature brain. {ECO
• Sequence:

  MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLDRISVYYNEATGGKYVPRAILVDLEPGTMDS
  VRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTL
  LISKIREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDL
  NHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQVFDAKNMM
  AACDPRHGRYLTVAAVFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMAVTFIGNSTAIQ
  ELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDFGEEAEEEA

• Structural information:
  • Interpro: IPR013838  IPR002453  IPR008280  IPR000217  IPR018316   IPR037103  IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227 PS00228
  • PDB: 3QNZ 3QO0 5N5N 6I2I 6QUS 6QUY 6QVE 6QVJ
  • PDBsum: 3QNZ 3QO0 5N5N 6I2I 6QUS 6QUY 6QVE 6QVJ
  • DIP: 32772
  • STRING: ENSP00000339001
• Other Databases: GeneCards:  TUBB  Malacards:  TUBB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0007017	microtubule-based process	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0005874	microtubule	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005200	structural constituent of cytoskeleton	IBA	molecular function
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0044297	cell body	IDA	cellular component
GO:0009987	cellular process	IDA	biological process
GO:0005641	nuclear envelope lumen	IDA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007017	microtubule-based process	IEA	biological process
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007017	microtubule-based process	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0050807	regulation of synapse organization	IEA	biological process
GO:0051225	spindle assembly	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005198	structural molecule activity	TAS	molecular function
GO:0007017	microtubule-based process	TAS	biological process
GO:0030705	cytoskeleton-dependent intracellular transport	TAS	biological process
GO:0051301	cell division	TAS	biological process
GO:0005874	microtubule	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0042288	MHC class I protein binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042267	natural killer cell mediated cytotoxicity	NAS	biological process
GO:0005856	cytoskeleton	TAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05130	Pathogenic Escherichia coli infection
hsa04145	Phagosome
hsa04540	Gap junction

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 3285991
Complex cortical dysplasia with other brain malformations	KEGG:H01881
Congenital symmetric circumferential skin creases	KEGG:H01579
Complex cortical dysplasia with other brain malformations	KEGG:H01881
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray