• Gene id: 85378

Gene Summary

• Gene Symbol: TUBGCP6   Gene   UCSC   Ensembl
• Aliases: GCP-6, GCP6, MCCRP, MCCRP1, MCPHCR
• Gene name: tubulin gamma complex associated protein 6
• Alternate names: gamma-tubulin complex component 6,
• Gene location: 22q13.33 (50245027: 50217693)     Exons: 25     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]
• OMIM: 188230

Protein Summary

• Protein general information: Q96RT7  
  • Name: Gamma tubulin complex component 6 (GCP 6)
  • Length: 1819  
  • Mass: 200498
• Sequence:

  MASITQLFDDLCEALLPAAKTHLGQRSVNRKRAKRSLKKVAYNALFTNLFQDETQQLQPDMSKLPARNKILMLSF
  DLRVGGLGPKADRLEELVEELEAAPCCPLLEVGSVLDLLVQLAGSGPPQVLPRKRDYFLNNKHVGRNVPYSGYDC
  DDLSVFEMDVQSLISREECLCHSMIQETLQVMEAAPGTGLPTVGLFSFGDPCGDRFERDTRVSLFGALVHSRTYD
  MDVRLGLPPVPDNADLSGLAIKVPPSVDQWEDEGFQSASNLTPDSQSEPSVTPDVDLWEAALTYEASKRRCWERV
  GCPPGHREEPYLTEAGRDAFDKFCRLHQGELQLLAGGVLQAPQPVLVKECELVKDVLNVLIGVVSATFSLCQPAQ
  AFVVKRGVHVSGASPESISSLLSEVAEYGTCYTRLSHFSLQPVLDSLYSKGLVFQAFTSGLRRYLQYYRACVLST
  PPTLSLLTIGFLFKKLGRQLRYLAELCGVGAVLPGTCGGGPRAAFPTGVKLLSYLYQEALHNCSNEHYPVLLSLL
  KTSCEPYTRFIHDWVYSGVFRDAYGEFMIQVNHEYLSFRDKLYWTHGYVLISKEVEDCVPVFLKHIAHDIYVCGK
  TINLLKLCCPRHYLCWSDVPVPRISVIFSLEELKEIEKDCAVYVGRMERVARHSSVSKEEKELRMEIAKQELIAH
  AREAASRVLSALSDRQMSERMALDARKREQFQRLKEQFVKDQERRQAARQEELDDDFSYARELRDRERRLKSLEE
  ELERKARQALVDHYSKLSAEAARREQKALWRIQRHRLESARLRFLLEDEKHIQEMLKAVSEAHQPQEPPDVLLSV
  HPQVTSPGPEHPEGGQGCDSGSAEQHSPAWDGWNRPGLLTPQPLKPLAVGAGGRGLQQAEGARPFSDSLSIGDFL
  PVGPGAEPSVQTGMVPLLEVALQTINLDLPPSAPGEAPAAASTQPSRPQEYDFSTVLRPAVATSPAPGPLQAAEC
  SLGSSGLQLWEDSCGKMDACGSASRETLLPSHPPRRAALEEGSSQPTERLFGQVSGGGLPTGDYASEIAPTRPRW
  NTHGHVSDASIRVGENVSDVAPTQPRWNTHGHVSNASISLGESVSDVAPTRPRWNIHGHVSNASIRVGENVSDVA
  PTRPRWNTHGHVSNASIRVGENVSDVAPTRPRWNTHGHVSDASISLGESVSDMAPARPRWNTHGHVSDASISLGE
  SVSDMAPTRPRWNTHGHVSDTSIRVGENVSDVAPIRSRCNTHGHVSDASISLGEPVSDVVSTRPRWNTHVPIPPP
  HMVLGALSPEAEPNTPRPQQSPPGHTSQSALSLGAQSTVLDCGPRLPVEVGPSLSSPSSGCGEGSISVGENVSDV
  APTQPWWPNTPGDSVSEELGPGRSGDTEDLSPNWPLNSQEDTAAQSSPGRGEEAEASAAEAQGGEQAYLAGLAGQ
  YHLERYPDSYESMSEPPIAHLLRPVLPRAFAFPVDPQVQSAADETAVQLSELLTLPVLMKRSITAPLAAHISLVN
  KAAVDYFFVELHLEAHYEALRHFLLMEDGEFAQSLSDLLFEKLGAGQTPGELLNPLVLNSVLSKALQCSLHGDTP
  HASNLSLALKYLPEVFAPNAPDVLSCLELRYKVDWPLNIVITEGCVSKYSGVFSFLLQLKLMMWALKDVCFHLKR
  TALLSHMAGSVQFRQLQLFKHEMQHFVKVIQGYIANQILHVTWCEFRARLATVGDLEEIQRAHAEYLHKAVFRGL
  LTEKAAPVMNVIHSIFSLVLKFRSQLISQAWGPPGGPRGAEHPNFALMQQSYNTFKYYSHFLFKVVTKLVNRGYQ
  PHLEDFLLRINFNNYYQDA

• Structural information:
  • Interpro: IPR007259  IPR040457  IPR042241  IPR041470  
  • PDB: 6V6C 6V6S
  • PDBsum: 6V6C 6V6S
  • STRING: ENSP00000248846
• Other Databases: GeneCards:  TUBGCP6  Malacards:  TUBGCP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051225	spindle assembly	IBA	biological process
GO:0051011	microtubule minus-end binding	IBA	contributes to
GO:0043015	gamma-tubulin binding	IBA	molecular function
GO:0000930	gamma-tubulin complex	IBA	cellular component
GO:0051415	microtubule nucleation by interphase microtubule organizing center	IBA	biological process
GO:0051321	meiotic cell cycle	IBA	biological process
GO:0031122	cytoplasmic microtubule organization	IBA	biological process
GO:0008274	gamma-tubulin ring complex	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0000923	equatorial microtubule organizing center	IBA	cellular component
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0007020	microtubule nucleation	IEA	biological process
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0000922	spindle pole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0043015	gamma-tubulin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0008274	gamma-tubulin ring complex	IDA	cellular component
GO:0007020	microtubule nucleation	IDA	biological process
GO:0008017	microtubule binding	IDA	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Autosomal recessive microcephaly and chorioretinopathy	KEGG:H01880
Autosomal recessive microcephaly and chorioretinopathy	KEGG:H01880
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq