TUBGCP6 (tubulin gamma complex component 6)

Gene

• Entrez ID: 85378
• Gene name: Tubulin gamma complex component 6
• Gene symbol: TUBGCP6
• Synonyms (NCBI Gene): GCP-6, GCP6, MCCRP, MCCRP1, MCPHCR
• Chromosome: 22
• Chromosome location: 22q13.33
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs148626062	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs192919234	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs368449236	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs724159975	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs724159976	C>A,T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained, missense variant
rs724159997	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs727502807	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs760024638	->G	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs762453492	TGGCGGAGGGCAGA>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs770971683	C>A	Likely-pathogenic	Splice donor variant
rs772174079	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs886041788	C>T	Pathogenic	Splice donor variant
rs1260456579	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1427049971	C>-,CC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1444741505	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555907238	->CCCTCCCCGCAGCCC	Likely-pathogenic	Non coding transcript variant, inframe insertion, intron variant, coding sequence variant
rs1555907270	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained
rs1555908577	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1602510452	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016913	hsa-miR-335-5p	Microarray	18185580
MIRT043114	hsa-miR-324-5p	CLASH	23622248
MIRT041292	hsa-miR-193b-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000922	Component	Spindle pole	IEA
GO:0000930	Component	Gamma-tubulin complex	IBA
GO:0000931	Component	Gamma-tubulin ring complex	IDA	11694571
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0007020	Process	Microtubule nucleation	IBA
GO:0007020	Process	Microtubule nucleation	IDA	11694571
GO:0007020	Process	Microtubule nucleation	IEA
GO:0008017	Function	Microtubule binding	IDA	11694571
GO:0016020	Component	Membrane	HDA	19946888
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0043015	Function	Gamma-tubulin binding	IBA
GO:0043015	Function	Gamma-tubulin binding	IEA
GO:0051011	Function	Microtubule minus-end binding	IBA
GO:0051225	Process	Spindle assembly	IBA
GO:0051321	Process	Meiotic cell cycle	IBA

Other IDs

• MIM: 610053
• HGNC: 18127
• e!Ensembl: ENSG00000128159

Protein

• UniProt ID: Q96RT7
• Protein name: Gamma-tubulin complex component 6 (GCP-6)
• Protein function: Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:11694571, PubMed:38305685, PubMed:38609661, PubMed:39321809). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that
• PDB: 6M33, 6V6C, 6V6S, 6X0U, 7AS4, 7QJ0, 7QJ1, 7QJ2, 7QJ3, 7QJ4, 7QJ5, 7QJ6, 7QJ7, 7QJ8, 7QJ9, 7QJA, 7QJB, 7QJC, 7QJD, 7QJE, 8Q62, 8RX1, 8VRD, 8VRJ, 8VRK, 9H9P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17681	GCP_N_terminal	353 → 693	Gamma tubulin complex component N-terminal	Domain
  PF04130	GCP_C_terminal	1513 → 1816	Gamma tubulin complex component C-terminal	Domain

• Sequence:

  MASITQLFDDLCEALLPAAKTHLGQRSVNRKRAKRSLKKVAYNALFTNLFQDETQQLQPD
  MSKLPARNKILMLSFDLRVGGLGPKADRLEELVEELEAAPCCPLLEVGSVLDLLVQLAGS
  GPPQVLPRKRDYFLNNKHVGRNVPYSGYDCDDLSVFEMDVQSLISREECLCHSMIQETLQ
  VMEAAPGTGLPTVGLFSFGDPCGDRFERDTRVSLFGALVHSRTYDMDVRLGLPPVPDNAD
  LSGLAIKVPPSVDQWEDEGFQSASNLTPDSQSEPSVTPDVDLWEAALTYEASKRRCWERV
  GCPPGHREEPYLTEAGRDAFDKFCRLHQGELQLLAGGVLQAPQPVLVKECELVKDVLNVL
  IGVVSATFSLCQPAQAFVVKRGVHVSGASPESISSLLSEVAEYGTCYTRLSHFSLQPVLD
  SLYSKGLVFQAFTSGLRRYLQYYRACVLSTPPTLSLLTIGFLFKKLGRQLRYLAELCGVG
  AVLPGTCGGGPRAAFPTGVKLLSYLYQEALHNCSNEHYPVLLSLLKTSCEPYTRFIHDWV
  YSGVFRDAYGEFMIQVNHEYLSFRDKLYWTHGYVLISKEVEDCVPVFLKHIAHDIYVCGK
  TINLLKLCCPRHYLCWSDVPVPRISVIFSLEELKEIEKDCAVYVGRMERVARHSSVSKEE
  KELRMEIAKQELIAHAREAASRVLSALSDRQMSERMALDARKREQFQRLKEQFVKDQERR
  QAARQEELDDDFSYARELRDRERRLKSLEEELERKARQALVDHYSKLSAEAARREQKALW
  RIQRHRLESARLRFLLEDEKHIQEMLKAVSEAHQPQEPPDVLLSVHPQVTSPGPEHPEGG
  QGCDSGSAEQHSPAWDGWNRPGLLTPQPLKPLAVGAGGRGLQQAEGARPFSDSLSIGDFL
  PVGPGAEPSVQTGMVPLLEVALQTINLDLPPSAPGEAPAAASTQPSRPQEYDFSTVLRPA
  VATSPAPGPLQAAECSLGSSGLQLWEDSCGKMDACGSASRETLLPSHPPRRAALEEGSSQ
  PTERLFGQVSGGGLPTGDYASEIAPTRPRWNTHGHVSDASIRVGENVSDVAPTQPRWNTH
  GHVSNASISLGESVSDVAPTRPRWNIHGHVSNASIRVGENVSDVAPTRPRWNTHGHVSNA
  SIRVGENVSDVAPTRPRWNTHGHVSDASISLGESVSDMAPARPRWNTHGHVSDASISLGE
  SVSDMAPTRPRWNTHGHVSDTSIRVGENVSDVAPIRSRCNTHGHVSDASISLGEPVSDVV
  STRPRWNTHVPIPPPHMVLGALSPEAEPNTPRPQQSPPGHTSQSALSLGAQSTVLDCGPR
  LPVEVGPSLSSPSSGCGEGSISVGENVSDVAPTQPWWPNTPGDSVSEELGPGRSGDTEDL
  SPNWPLNSQEDTAAQSSPGRGEEAEASAAEAQGGEQAYLAGLAGQYHLERYPDSYESMSE
  PPIAHLLRPVLPRAFAFPVDPQVQSAADETAVQLSELLTLPVLMKRSITAPLAAHISLVN
  KAAVDYFFVELHLEAHYEALRHFLLMEDGEFAQSLSDLLFEKLGAGQTPGELLNPLVLNS
  VLSKALQCSLHGDTPHASNLSLALKYLPEVFAPNAPDVLSCLELRYKVDWPLNIVITEGC
  VSKYSGVFSFLLQLKLMMWALKDVCFHLKRTALLSHMAGSVQFRQLQLFKHEMQHFVKVI
  QGYIANQILHVTWCEFRARLATVGDLEEIQRAHAEYLHKAVFRGLLTEKAAPVMNVIHSI
  FSLVLKFRSQLISQAWGPPGGPRGAEHPNFALMQQSYNTFKYYSHFLFKVVTKLVNRGYQ
  PHLEDFLLRINFNNYYQDA

• Sequence length: 1819

Pathways

Reactome:

Recruitment of mitotic centrosome proteins and complexes
Recruitment of NuMA to mitotic centrosomes

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Microcephaly with Chorioretinopathy	Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy with or without intellectual disability	rs192919234, rs760024638, rs1602510452, rs1444741505, rs387907019, rs727502807, rs724159975, rs724159976, rs724159997, rs772174079	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Diabetes	Triglyceride levels in non-type 2 diabetes	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Pancreatic Ductal	Associate	37196196
Chromosome Duplication	Associate	31874114
Cone Rod Dystrophies	Associate	31077665
Familial Exudative Vitreoretinopathies	Associate	33137195
Learning Disabilities	Associate	31077665
Microcephaly	Associate	33137195
Microcephaly with Chorioretinopathy Autosomal Dominant	Associate	33137195
Prodromal Symptoms	Associate	37196196
Retinal Diseases	Associate	31077665, 33137195
Sveinsson Chorioretinal Atrophy	Associate	33137195