• Gene id: 10381

Gene Summary

• Gene Symbol: TUBB3   Gene   UCSC   Ensembl
• Aliases: CDCBM, CDCBM1, CFEOM3, CFEOM3A, FEOM3, TUBB4, beta-4
• Gene name: tubulin beta 3 class III
• Alternate names: tubulin beta-3 chain, class III beta-tubulin, tubulin beta-4 chain, tubulin beta-III, tubulin, beta 3,
• Gene location: 16q24.3 (89922008: 89936096)     Exons: 5     NC_000016.10
• Gene summary(Entrez): This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and
• OMIM: 602661

Protein Summary

• Protein general information: Q13509  
  • Name: Tubulin beta 3 chain (Tubulin beta 4 chain) (Tubulin beta III)
  • Length: 450  
  • Mass: 50,433
• Sequence:

  MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLERISVYYNEASSHKYVPRAILVDLEPGTMDS
  VRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTL
  LISKVREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDL
  NHLVSATMSGVTTSLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMM
  AACDPRHGRYLTVATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQ
  ELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK

• Structural information:
  • Interpro: IPR013838  IPR002453  IPR008280  IPR000217  IPR018316   IPR037103  IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227 PS00228
  • PDB: 5IJ0 5IJ9 5JCO
  • PDBsum: 5IJ0 5IJ9 5JCO
  • DIP: 31505
  • STRING: ENSP00000320295
• Other Databases: GeneCards:  TUBB3  Malacards:  TUBB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IEA	molecular function
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0007017	microtubule-based process	IEA	biological process
GO:0007067	mitotic nuclear division	IEA	biological process
GO:0007411	axon guidance	IMP	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0042277	peptide binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071944	cell periphery	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0007017	microtubule-based process	IEA	biological process
GO:0007067	mitotic nuclear division	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007411	axon guidance	IMP	biological process
GO:0015630	microtubule cytoskeleton	IEA	cellular component
GO:0030182	neuron differentiation	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0042277	peptide binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071944	cell periphery	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0007411	axon guidance	IMP	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04145	Phagosome
hsa04540	Gap junction
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Congenital fibrosis of the extraocular muscles	KEGG: H00838
Asthenozoospermia	MIK: 23174138
Cryptorchidism	MIK: 28606200
Asthenozoospermia	MIK: 23174138
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23174138	Idiopathic asthenozoospermia, male infertility			46 (25 infertile patients affected by idiopathic asthenozoospermia, 21 age-matched normospermic fertile donors)	Male infertility	Ezrin  Cdc42 CD9 F-actin and ?-tubulin
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R