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Protein

Gamma-tubulin complex component 6

Gene

TUBGCP6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.1 Publication

GO - Molecular functioni

  • gamma-tubulin binding Source: GO_Central
  • microtubule binding Source: UniProtKB
  • structural constituent of cytoskeleton Source: GO_Central

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128159-MONOMER.
ReactomeiR-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-380320. Recruitment of NuMA to mitotic centrosomes.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-tubulin complex component 6
Short name:
GCP-6
Gene namesi
Name:TUBGCP6
Synonyms:GCP6, KIAA1669
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:18127. TUBGCP6.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cytosol Source: Reactome
  • equatorial microtubule organizing center Source: GO_Central
  • extracellular exosome Source: UniProtKB
  • gamma-tubulin ring complex Source: UniProtKB
  • membrane Source: UniProtKB
  • microtubule Source: UniProtKB-KW
  • spindle pole Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life.
See also OMIM:251270

Organism-specific databases

DisGeNETi85378.
MalaCardsiTUBGCP6.
MIMi251270. phenotype.
OpenTargetsiENSG00000128159.
Orphaneti2518. Autosomal recessive chorioretinopathy-microcephaly.
PharmGKBiPA38507.

Polymorphism and mutation databases

BioMutaiTUBGCP6.
DMDMi143811395.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000781311 – 1819Gamma-tubulin complex component 6Add BLAST1819

Proteomic databases

EPDiQ96RT7.
MaxQBiQ96RT7.
PaxDbiQ96RT7.
PeptideAtlasiQ96RT7.
PRIDEiQ96RT7.

PTM databases

iPTMnetiQ96RT7.
PhosphoSitePlusiQ96RT7.

Expressioni

Gene expression databases

BgeeiENSG00000128159.
CleanExiHS_TUBGCP6.
ExpressionAtlasiQ96RT7. baseline and differential.
GenevisibleiQ96RT7. HS.

Organism-specific databases

HPAiHPA043928.

Interactioni

Subunit structurei

Gamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6.1 Publication

GO - Molecular functioni

  • gamma-tubulin binding Source: GO_Central
  • microtubule binding Source: UniProtKB

Protein-protein interaction databases

BioGridi124505. 33 interactors.
IntActiQ96RT7. 25 interactors.
MINTiMINT-4989271.
STRINGi9606.ENSP00000248846.

Structurei

3D structure databases

ProteinModelPortaliQ96RT7.
SMRiQ96RT7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1027 – 10531Add BLAST27
Repeati1054 – 10802Add BLAST27
Repeati1081 – 11073Add BLAST27
Repeati1108 – 11344Add BLAST27
Repeati1135 – 11615Add BLAST27
Repeati1162 – 11886Add BLAST27
Repeati1189 – 12157Add BLAST27
Repeati1216 – 12428Add BLAST27
Repeati1243 – 12699Add BLAST27

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1027 – 12699 X 27 AA tandem repeatsAdd BLAST243

Sequence similaritiesi

Belongs to the TUBGCP family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2000. Eukaryota.
ENOG410XQ5B. LUCA.
GeneTreeiENSGT00850000132278.
HOVERGENiHBG031569.
InParanoidiQ96RT7.
KOiK16573.
OMAiHASDAHI.
OrthoDBiEOG091G0ABS.
PhylomeDBiQ96RT7.
TreeFamiTF106321.

Family and domain databases

InterProiIPR007259. GCP.
[Graphical view]
PANTHERiPTHR19302. PTHR19302. 2 hits.
PfamiPF04130. Spc97_Spc98. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96RT7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASITQLFDD LCEALLPAAK THLGQRSVNR KRAKRSLKKV AYNALFTNLF
60 70 80 90 100
QDETQQLQPD MSKLPARNKI LMLSFDLRVG GLGPKADRLE ELVEELEAAP
110 120 130 140 150
CCPLLEVGSV LDLLVQLAGS GPPQVLPRKR DYFLNNKHVG RNVPYSGYDC
160 170 180 190 200
DDLSVFEMDV QSLISREECL CHSMIQETLQ VMEAAPGTGL PTVGLFSFGD
210 220 230 240 250
PCGDRFERDT RVSLFGALVH SRTYDMDVRL GLPPVPDNAD LSGLAIKVPP
260 270 280 290 300
SVDQWEDEGF QSASNLTPDS QSEPSVTPDV DLWEAALTYE ASKRRCWERV
310 320 330 340 350
GCPPGHREEP YLTEAGRDAF DKFCRLHQGE LQLLAGGVLQ APQPVLVKEC
360 370 380 390 400
ELVKDVLNVL IGVVSATFSL CQPAQAFVVK RGVHVSGASP ESISSLLSEV
410 420 430 440 450
AEYGTCYTRL SHFSLQPVLD SLYSKGLVFQ AFTSGLRRYL QYYRACVLST
460 470 480 490 500
PPTLSLLTIG FLFKKLGRQL RYLAELCGVG AVLPGTCGGG PRAAFPTGVK
510 520 530 540 550
LLSYLYQEAL HNCSNEHYPV LLSLLKTSCE PYTRFIHDWV YSGVFRDAYG
560 570 580 590 600
EFMIQVNHEY LSFRDKLYWT HGYVLISKEV EDCVPVFLKH IAHDIYVCGK
610 620 630 640 650
TINLLKLCCP RHYLCWSDVP VPRISVIFSL EELKEIEKDC AVYVGRMERV
660 670 680 690 700
ARHSSVSKEE KELRMEIAKQ ELIAHAREAA SRVLSALSDR QMSERMALDA
710 720 730 740 750
RKREQFQRLK EQFVKDQERR QAARQEELDD DFSYARELRD RERRLKSLEE
760 770 780 790 800
ELERKARQAL VDHYSKLSAE AARREQKALW RIQRHRLESA RLRFLLEDEK
810 820 830 840 850
HIQEMLKAVS EAHQPQEPPD VLLSVHPQVT SPGPEHPEGG QGCDSGSAEQ
860 870 880 890 900
HSPAWDGWNR PGLLTPQPLK PLAVGAGGRG LQQAEGARPF SDSLSIGDFL
910 920 930 940 950
PVGPGAEPSV QTGMVPLLEV ALQTINLDLP PSAPGEAPAA ASTQPSRPQE
960 970 980 990 1000
YDFSTVLRPA VATSPAPGPL QAAECSLGSS GLQLWEDSCG KMDACGSASR
1010 1020 1030 1040 1050
ETLLPSHPPR RAALEEGSSQ PTERLFGQVS GGGLPTGDYA SEIAPTRPRW
1060 1070 1080 1090 1100
NTHGHVSDAS IRVGENVSDV APTQPRWNTH GHVSNASISL GESVSDVAPT
1110 1120 1130 1140 1150
RPRWNIHGHV SNASIRVGEN VSDVAPTRPR WNTHGHVSNA SIRVGENVSD
1160 1170 1180 1190 1200
VAPTRPRWNT HGHVSDASIS LGESVSDMAP ARPRWNTHGH VSDASISLGE
1210 1220 1230 1240 1250
SVSDMAPTRP RWNTHGHVSD TSIRVGENVS DVAPIRSRCN THGHVSDASI
1260 1270 1280 1290 1300
SLGEPVSDVV STRPRWNTHV PIPPPHMVLG ALSPEAEPNT PRPQQSPPGH
1310 1320 1330 1340 1350
TSQSALSLGA QSTVLDCGPR LPVEVGPSLS SPSSGCGEGS ISVGENVSDV
1360 1370 1380 1390 1400
APTQPWWPNT PGDSVSEELG PGRSGDTEDL SPNWPLNSQE DTAAQSSPGR
1410 1420 1430 1440 1450
GEEAEASAAE AQGGEQAYLA GLAGQYHLER YPDSYESMSE PPIAHLLRPV
1460 1470 1480 1490 1500
LPRAFAFPVD PQVQSAADET AVQLSELLTL PVLMKRSITA PLAAHISLVN
1510 1520 1530 1540 1550
KAAVDYFFVE LHLEAHYEAL RHFLLMEDGE FAQSLSDLLF EKLGAGQTPG
1560 1570 1580 1590 1600
ELLNPLVLNS VLSKALQCSL HGDTPHASNL SLALKYLPEV FAPNAPDVLS
1610 1620 1630 1640 1650
CLELRYKVDW PLNIVITEGC VSKYSGVFSF LLQLKLMMWA LKDVCFHLKR
1660 1670 1680 1690 1700
TALLSHMAGS VQFRQLQLFK HEMQHFVKVI QGYIANQILH VTWCEFRARL
1710 1720 1730 1740 1750
ATVGDLEEIQ RAHAEYLHKA VFRGLLTEKA APVMNVIHSI FSLVLKFRSQ
1760 1770 1780 1790 1800
LISQAWGPPG GPRGAEHPNF ALMQQSYNTF KYYSHFLFKV VTKLVNRGYQ
1810
PHLEDFLLRI NFNNYYQDA
Length:1,819
Mass (Da):200,498
Last modified:April 3, 2007 - v3
Checksum:i265F89F318996157
GO
Isoform 2 (identifier: Q96RT7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1724-1757: Missing.

Note: No experimental confirmation available.
Show »
Length:1,785
Mass (Da):196,761
Checksum:i58972A0B8E54CEBF
GO
Isoform 3 (identifier: Q96RT7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1652-1662: Missing.
     1724-1729: Missing.

Note: No experimental confirmation available.
Show »
Length:1,802
Mass (Da):198,761
Checksum:i14228549220D0E42
GO

Sequence cautioni

The sequence AAH42165 differs from that shown. Reason: Frameshift at positions 1651 and 1723.Curated
The sequence BAB33339 differs from that shown. Intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055852104L → P.Corresponds to variant rs8137873dbSNPEnsembl.1
Natural variantiVAR_031594567L → S.1 PublicationCorresponds to variant rs4838865dbSNPEnsembl.1
Natural variantiVAR_055853624I → M.Corresponds to variant rs35573482dbSNPEnsembl.1
Natural variantiVAR_055854884A → V.Corresponds to variant rs34455105dbSNPEnsembl.1
Natural variantiVAR_0558551232V → M.Corresponds to variant rs17248287dbSNPEnsembl.1
Natural variantiVAR_0558561364S → C.Corresponds to variant rs5771107dbSNPEnsembl.1
Natural variantiVAR_0558571377T → A.1 PublicationCorresponds to variant rs11703226dbSNPEnsembl.1
Natural variantiVAR_0558581621V → L.1 PublicationCorresponds to variant rs4838864dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0172081652 – 1662Missing in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_0016241724 – 1757Missing in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_0172091724 – 1729Missing in isoform 3. 1 Publication6

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272887 mRNA. Translation: AAK82968.1.
AL022328 Genomic DNA. No translation available.
AB051456 mRNA. Translation: BAB33339.1. Sequence problems.
BC023573 mRNA. Translation: AAH23573.1.
BC042165 mRNA. Translation: AAH42165.1. Frameshift.
CCDSiCCDS14087.1. [Q96RT7-1]
RefSeqiNP_065194.2. NM_020461.3.
UniGeneiHs.336431.

Genome annotation databases

EnsembliENST00000248846; ENSP00000248846; ENSG00000128159. [Q96RT7-1]
GeneIDi85378.
KEGGihsa:85378.
UCSCiuc003bkb.2. human. [Q96RT7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272887 mRNA. Translation: AAK82968.1.
AL022328 Genomic DNA. No translation available.
AB051456 mRNA. Translation: BAB33339.1. Sequence problems.
BC023573 mRNA. Translation: AAH23573.1.
BC042165 mRNA. Translation: AAH42165.1. Frameshift.
CCDSiCCDS14087.1. [Q96RT7-1]
RefSeqiNP_065194.2. NM_020461.3.
UniGeneiHs.336431.

3D structure databases

ProteinModelPortaliQ96RT7.
SMRiQ96RT7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124505. 33 interactors.
IntActiQ96RT7. 25 interactors.
MINTiMINT-4989271.
STRINGi9606.ENSP00000248846.

PTM databases

iPTMnetiQ96RT7.
PhosphoSitePlusiQ96RT7.

Polymorphism and mutation databases

BioMutaiTUBGCP6.
DMDMi143811395.

Proteomic databases

EPDiQ96RT7.
MaxQBiQ96RT7.
PaxDbiQ96RT7.
PeptideAtlasiQ96RT7.
PRIDEiQ96RT7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000248846; ENSP00000248846; ENSG00000128159. [Q96RT7-1]
GeneIDi85378.
KEGGihsa:85378.
UCSCiuc003bkb.2. human. [Q96RT7-1]

Organism-specific databases

CTDi85378.
DisGeNETi85378.
GeneCardsiTUBGCP6.
HGNCiHGNC:18127. TUBGCP6.
HPAiHPA043928.
MalaCardsiTUBGCP6.
MIMi251270. phenotype.
610053. gene.
neXtProtiNX_Q96RT7.
OpenTargetsiENSG00000128159.
Orphaneti2518. Autosomal recessive chorioretinopathy-microcephaly.
PharmGKBiPA38507.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2000. Eukaryota.
ENOG410XQ5B. LUCA.
GeneTreeiENSGT00850000132278.
HOVERGENiHBG031569.
InParanoidiQ96RT7.
KOiK16573.
OMAiHASDAHI.
OrthoDBiEOG091G0ABS.
PhylomeDBiQ96RT7.
TreeFamiTF106321.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128159-MONOMER.
ReactomeiR-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-380320. Recruitment of NuMA to mitotic centrosomes.

Miscellaneous databases

GeneWikiiTUBGCP6.
GenomeRNAii85378.
PROiQ96RT7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128159.
CleanExiHS_TUBGCP6.
ExpressionAtlasiQ96RT7. baseline and differential.
GenevisibleiQ96RT7. HS.

Family and domain databases

InterProiIPR007259. GCP.
[Graphical view]
PANTHERiPTHR19302. PTHR19302. 2 hits.
PfamiPF04130. Spc97_Spc98. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGCP6_HUMAN
AccessioniPrimary (citable) accession number: Q96RT7
Secondary accession number(s): Q5JZ80
, Q6PJ40, Q86YE9, Q9BY91, Q9UGX3, Q9UGX4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: April 3, 2007
Last modified: November 30, 2016
This is version 141 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.