• Gene id: 7283

Gene Summary

• Gene Symbol: TUBG1   Gene   UCSC   Ensembl
• Aliases: CDCBM4, GCP-1, TUBG, TUBGCP1
• Gene name: tubulin gamma 1
• Alternate names: tubulin gamma-1 chain, gamma-tubulin complex component 1, tubulin, gamma polypeptide,
• Gene location: 17q21.2 (42609389: 42615237)     Exons: 10     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is re
• OMIM: 191135

SNPs

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

Protein Summary

• Protein general information: P23258  
  • Name: Tubulin gamma 1 chain (Gamma 1 tubulin) (Gamma tubulin complex component 1) (GCP 1)
  • Length: 451  
  • Mass: 51170
• Sequence:

  MPREIITLQLGQCGNQIGFEFWKQLCAEHGISPEGIVEEFATEGTDRKDVFFYQADDEHYIPRAVLLDLEPRVIH
  SILNSPYAKLYNPENIYLSEHGGGAGNNWASGFSQGEKIHEDIFDIIDREADGSDSLEGFVLCHSIAGGTGSGLG
  SYLLERLNDRYPKKLVQTYSVFPNQDEMSDVVVQPYNSLLTLKRLTQNADCVVVLDNTALNRIATDRLHIQNPSF
  SQINQLVSTIMSASTTTLRYPGYMNNDLIGLIASLIPTPRLHFLMTGYTPLTTDQSVASVRKTTVLDVMRRLLQP
  KNVMVSTGRDRQTNHCYIAILNIIQGEVDPTQVHKSLQRIRERKLANFIPWGPASIQVALSRKSPYLPSAHRVSG
  LMMANHTSISSLFERTCRQYDKLRKREAFLEQFRKEDMFKDNFDEMDTSREIVQQLIDEYHAATRPDYISWGTQE
  Q

• Structural information:
  • Interpro: IPR002454  IPR008280  IPR000217  IPR018316  IPR037103   IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227
  • CDD: cd02188
  • PDB: 1Z5V 1Z5W 3CB2 6V5V 6V6S
  • PDBsum: 1Z5V 1Z5W 3CB2 6V5V 6V6S
  • DIP: 29890
  • STRING: ENSP00000251413
• Other Databases: GeneCards:  TUBG1  Malacards:  TUBG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007052	mitotic spindle organization	IBA	biological process
GO:0007020	microtubule nucleation	IBA	biological process
GO:0007017	microtubule-based process	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0005525	GTP binding	IBA	molecular function
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0005874	microtubule	IBA	cellular component
GO:0005819	spindle	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005200	structural constituent of cytoskeleton	IBA	molecular function
GO:0000930	gamma-tubulin complex	IBA	cellular component
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0000212	meiotic spindle organization	IBA	biological process
GO:0000070	mitotic sister chromatid segregation	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007017	microtubule-based process	IEA	biological process
GO:0007020	microtubule nucleation	IEA	biological process
GO:0031122	cytoplasmic microtubule organization	IEA	biological process
GO:0000930	gamma-tubulin complex	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0000226	microtubule cytoskeleton organization	TAS	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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:0000242	pericentriolar material	IEA	cellular component
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0005813	centrosome	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0097730	non-motile cilium	IEA	cellular component
GO:0000212	meiotic spindle organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005876	spindle microtubule	IEA	cellular component
GO:0005881	cytoplasmic microtubule	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0031252	cell leading edge	IEA	cellular component
GO:0000930	gamma-tubulin complex	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0005827	polar microtubule	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000794	condensed nuclear chromosome	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0000930	gamma-tubulin complex	TAS	cellular component
GO:0000212	meiotic spindle organization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Complex cortical dysplasia with other brain malformations	KEGG:H01881
Complex cortical dysplasia with other brain malformations	KEGG:H01881
Muscular disease	PMID:15912881
Inclusion body myositis	PMID:15912881
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq