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Aliases for TUBGCP6 Gene

Aliases for TUBGCP6 Gene

  • Tubulin, Gamma Complex Associated Protein 6 2 3
  • GCP6 3 4 6
  • Gamma-Tubulin Complex Component 6 2 3
  • KIAA1669 4 6
  • MCPHCR 3 6
  • GCP-6 3 4
  • MCCRP1 3
  • MCCRP 3

External Ids for TUBGCP6 Gene

Summaries for TUBGCP6 Gene

Entrez Gene Summary for TUBGCP6 Gene

  • 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]

GeneCards Summary for TUBGCP6 Gene

TUBGCP6 (Tubulin, Gamma Complex Associated Protein 6) is a Protein Coding gene. Diseases associated with TUBGCP6 include microcephaly and chorioretinopathy, autosomal recessive, 1 and aicardi-goutieres syndrome. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Cell Cycle, Mitotic. GO annotations related to this gene include microtubule binding.

UniProtKB/Swiss-Prot for TUBGCP6 Gene

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

Gene Wiki entry for TUBGCP6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBGCP6 Gene

Genomics for TUBGCP6 Gene

Genomic Location for TUBGCP6 Gene

Start:
50,217,689 bp from pter
End:
50,245,024 bp from pter
Size:
27,336 bases
Orientation:
Minus strand

Genomic View for TUBGCP6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TUBGCP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBGCP6 Gene

Regulatory Elements for TUBGCP6 Gene

Proteins for TUBGCP6 Gene

  • Protein details for TUBGCP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RT7-GCP6_HUMAN
    Recommended name:
    Gamma-tubulin complex component 6
    Protein Accession:
    Q96RT7
    Secondary Accessions:
    • Q5JZ80
    • Q6PJ40
    • Q86YE9
    • Q9BY91
    • Q9UGX3
    • Q9UGX4

    Protein attributes for TUBGCP6 Gene

    Size:
    1819 amino acids
    Molecular mass:
    200498 Da
    Quaternary structure:
    • Gamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6.
    SequenceCaution:
    • Sequence=AAH42165.1; Type=Frameshift; Positions=1651, 1723; Evidence={ECO:0000305}; Sequence=BAB33339.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for TUBGCP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBGCP6 Gene

Proteomics data for TUBGCP6 Gene at MOPED

Post-translational modifications for TUBGCP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUBGCP6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBGCP6 Gene

Domains for TUBGCP6 Gene

Protein Domains for TUBGCP6 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

GCP6_HUMAN
Family:
  • Belongs to the TUBGCP family.:
    • Q96RT7
genes like me logo Genes that share domains with TUBGCP6: view

No data available for Gene Families for TUBGCP6 Gene

Function for TUBGCP6 Gene

Molecular function for TUBGCP6 Gene

UniProtKB/Swiss-Prot Function: Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.

Gene Ontology (GO) - Molecular Function for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IDA 11694571
genes like me logo Genes that share ontologies with TUBGCP6: view

Phenotypes for TUBGCP6 Gene

GenomeRNAi human phenotypes for TUBGCP6:
genes like me logo Genes that share phenotypes with TUBGCP6: view

miRNA for TUBGCP6 Gene

miRTarBase miRNAs that target TUBGCP6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TUBGCP6 Gene

Localization for TUBGCP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBGCP6 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBGCP6 Gene COMPARTMENTS Subcellular localization image for TUBGCP6 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 2

Gene Ontology (GO) - Cellular Components for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center --
GO:0005829 cytosol TAS --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with TUBGCP6: view

Pathways for TUBGCP6 Gene

genes like me logo Genes that share pathways with TUBGCP6: view

Interacting Proteins for TUBGCP6 Gene

Gene Ontology (GO) - Biological Process for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000226 microtubule cytoskeleton organization --
GO:0000278 mitotic cell cycle TAS --
GO:0007020 microtubule nucleation IDA 11694571
genes like me logo Genes that share ontologies with TUBGCP6: view

Transcripts for TUBGCP6 Gene

Unigene Clusters for TUBGCP6 Gene

Tubulin, gamma complex associated protein 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBGCP6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6: -
SP7:

ExUns: 21b ^ 22a · 22b ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b · 25c ^ 26
SP1: -
SP2: - -
SP3:
SP4: -
SP5: - - -
SP6:
SP7: -

Relevant External Links for TUBGCP6 Gene

GeneLoc Exon Structure for
TUBGCP6
ECgene alternative splicing isoforms for
TUBGCP6

Expression for TUBGCP6 Gene

mRNA expression in normal human tissues for TUBGCP6 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBGCP6 Gene

SOURCE GeneReport for Unigene cluster for TUBGCP6 Gene Hs.336431

genes like me logo Genes that share expressions with TUBGCP6: view

Orthologs for TUBGCP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TUBGCP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUBGCP6 37
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUBGCP6 36
  • 78.72 (n)
  • 75.75 (a)
TUBGCP6 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBGCP6 36
  • 77.67 (n)
  • 75.43 (a)
TUBGCP6 37
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubgcp6 36
  • 78.34 (n)
  • 77.7 (a)
Tubgcp6 16
Tubgcp6 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBGCP6 37
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBGCP6 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubgcp6 36
  • 78.71 (n)
  • 78.58 (a)
chicken
(Gallus gallus)
Aves TUBGCP6 36
  • 67.03 (n)
  • 70.21 (a)
TUBGCP6 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TUBGCP6 37
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia grip210 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18301 36
zebrafish
(Danio rerio)
Actinopterygii Dr.15107 36
TUBGCP6 37
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Grip163 37
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 24 (a)
OneToOne
Species with no ortholog for TUBGCP6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TUBGCP6 Gene

ENSEMBL:
Gene Tree for TUBGCP6 (if available)
TreeFam:
Gene Tree for TUBGCP6 (if available)

Paralogs for TUBGCP6 Gene

No data available for Paralogs for TUBGCP6 Gene

Variants for TUBGCP6 Gene

Sequence variations from dbSNP and Humsavar for TUBGCP6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs730936 -- 50,227,431(+) ACAAC(C/T)CGCAC intron-variant
rs730937 -- 50,227,347(+) CACAC(A/G)AATCA intron-variant
rs2272854 -- 50,219,845(+) CACAA(C/G)CAGCT intron-variant
rs2294403 -- 50,222,342(+) AACGC(A/G)AAAGC intron-variant
rs2341368 -- 50,235,254(+) CACAT(C/G)CCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TUBGCP6 Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
dgv5051n71 CNV Loss 21882294
dgv5054n71 CNV Loss 21882294
dgv781n67 CNV Gain 20364138
dgv5055n71 CNV Loss 21882294
dgv5056n71 CNV Loss 21882294
nsv914515 CNV Gain 21882294
nsv471223 CNV Loss 18288195
esv2724758 CNV Deletion 23290073
esv2724759 CNV Deletion 23290073
esv2230097 CNV Deletion 18987734
esv2724760 CNV Deletion 23290073
esv26829 CNV Loss 19812545
nsv914517 CNV Loss 21882294
nsv914518 CNV Loss 21882294

Relevant External Links for TUBGCP6 Gene

HapMap Linkage Disequilibrium report
TUBGCP6
Human Gene Mutation Database (HGMD)
TUBGCP6

Disorders for TUBGCP6 Gene

(1) OMIM Diseases for TUBGCP6 Gene (610053)

UniProtKB/Swiss-Prot

GCP6_HUMAN
  • Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1) [MIM:251270]: A 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. {ECO:0000269 PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBGCP6

Genetic Association Database (GAD)
TUBGCP6
Human Genome Epidemiology (HuGE) Navigator
TUBGCP6
genes like me logo Genes that share disorders with TUBGCP6: view

Publications for TUBGCP6 Gene

  1. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M. … Ohara O. (DNA Res. 2001) 2 3 4
  2. GCP5 and GCP6: two new members of the human gamma-tubulin complex. (PMID: 11694571) Murphy S.M. … Stearns T. (Mol. Biol. Cell 2001) 2 3 4
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PMID: 22279524) Puffenberger E.G. … Strauss K.A. (PLoS ONE 2012) 3 4

Products for TUBGCP6 Gene

Sources for TUBGCP6 Gene

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