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Aliases for TUBGCP6 Gene

Aliases for TUBGCP6 Gene

  • Tubulin Gamma Complex Associated Protein 6 2 3 5
  • Gamma-Tubulin Complex Component 6 2 3
  • GCP-6 3 4
  • GCP6 3 4
  • Tubulin, Gamma Complex Associated Protein 6 2
  • KIAA1669 4
  • MCCRP1 3
  • MCPHCR 3
  • MCCRP 3

External Ids for TUBGCP6 Gene

Previous GeneCards Identifiers for TUBGCP6 Gene

  • GC22M047207
  • GC22M048838
  • GC22M048958
  • GC22M048998
  • GC22M050656
  • GC22M033553

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 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Chks in Checkpoint Regulation. GO annotations related to this gene include microtubule binding. An important paralog of this gene is TUBGCP5.

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

Regulatory Elements for TUBGCP6 Gene

Enhancers for TUBGCP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F050188 1.5 FANTOM5 ENCODE 55.3 +53.9 53945 5.6 HDGF PKNOX1 ARID4B SIN3A YBX1 ZNF2 ZNF143 ZNF263 MCM3 SP3 TUBGCP6 MAPK12 ALG12 ZBED4 ENSG00000272836 HDAC10 LOC105373095 LOC101928719 MAPK11 PLXNB2
GH22F049942 1.8 FANTOM5 Ensembl ENCODE 38.6 +295.8 295769 13.5 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 TUBGCP6 ALG12 ENSG00000272836 ENSG00000273192 PIM3 PANX2 DENND6B TRABD CRELD2 ZBED4
GH22F050339 1 ENCODE 32.8 -95.2 -95200 2.1 HDGF ZNF493 ZNF2 KLF7 ZNF488 ZNF264 ZNF585B GLIS1 MYNN NBN ALG12 TUBGCP6 ENSG00000272836 ZBED4 ENSG00000273192 LOC105373095 DENND6B PPP6R2 TRABD
GH22F050626 1 ENCODE 23.3 -383.0 -382999 2.4 HDGF ZNF493 ARID4B SIN3A YBX1 GLI4 ZNF2 GLIS2 KLF7 MCM3 TUBGCP6 ENSG00000272836 ZBED4 ARSA ALG12 LOC105373095 DENND6B CPT1B MAPK8IP2 CHKB
GH22F050619 1.3 FANTOM5 ENCODE 12.9 -376.8 -376833 3.7 PKNOX1 ATF1 MLX WRNIP1 ZFP64 SIN3A ARID4B DMAP1 ZNF48 YY1 ARSA CPT1B CHKB TUBGCP6 SYCE3 MAPK8IP2 HDAC10 NCAPH2 PPP6R2 SBF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUBGCP6 on UCSC Golden Path with GeneCards custom track

Promoters for TUBGCP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000086221 924 3801 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for TUBGCP6 Gene

Chromosome:
22
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

Genes around TUBGCP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBGCP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBGCP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TUBGCP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUBGCP6 Gene

No data available for DME Specific Peptides for TUBGCP6 Gene

Domains & Families for TUBGCP6 Gene

Protein Domains for TUBGCP6 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96RT7

UniProtKB/Swiss-Prot:

GCP6_HUMAN :
  • Belongs to the TUBGCP family.
Family:
  • Belongs to the TUBGCP family.
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:0005200 structural constituent of cytoskeleton IBA --
GO:0008017 microtubule binding IDA 11694571
GO:0043015 gamma-tubulin binding IEA,IBA --
GO:0051011 contributes_to microtubule minus-end binding IBA --
genes like me logo Genes that share ontologies with TUBGCP6: view
genes like me logo Genes that share phenotypes with TUBGCP6: view

Human Phenotype Ontology for TUBGCP6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TUBGCP6 Gene

miRTarBase miRNAs that target TUBGCP6

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUBGCP6 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0000923 equatorial microtubule organizing center IBA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with TUBGCP6: view

Pathways & Interactions for TUBGCP6 Gene

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

Gene Ontology (GO) - Biological Process for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007020 microtubule nucleation IEA,IDA 11694571
GO:0007126 meiotic nuclear division IBA --
GO:0031122 cytoplasmic microtubule organization IBA --
GO:0051298 centrosome duplication IBA --
GO:0051415 interphase microtubule nucleation by interphase microtubule organizing center IBA --
genes like me logo Genes that share ontologies with TUBGCP6: view

No data available for SIGNOR curated interactions for TUBGCP6 Gene

Transcripts for TUBGCP6 Gene

Unigene Clusters for TUBGCP6 Gene

Tubulin, gamma complex associated protein 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for TUBGCP6 Gene

Protein differential expression in normal tissues from HIPED for TUBGCP6 Gene

This gene is overexpressed in Spinal cord (51.1) and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBGCP6 Gene



Protein tissue co-expression partners for TUBGCP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBGCP6 Gene:

TUBGCP6

SOURCE GeneReport for Unigene cluster for TUBGCP6 Gene:

Hs.336431
genes like me logo Genes that share expression patterns with TUBGCP6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TUBGCP6 Gene

Orthologs for TUBGCP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TUBGCP6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUBGCP6 34 35
  • 78.72 (n)
rat
(Rattus norvegicus)
Mammalia Tubgcp6 34
  • 78.71 (n)
mouse
(Mus musculus)
Mammalia Tubgcp6 34 16 35
  • 78.34 (n)
dog
(Canis familiaris)
Mammalia TUBGCP6 34 35
  • 77.67 (n)
chimpanzee
(Pan troglodytes)
Mammalia TUBGCP6 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBGCP6 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBGCP6 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUBGCP6 34 35
  • 67.03 (n)
lizard
(Anolis carolinensis)
Reptilia TUBGCP6 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18301 34
African clawed frog
(Xenopus laevis)
Amphibia grip210 34
zebrafish
(Danio rerio)
Actinopterygii TUBGCP6 35
  • 50 (a)
OneToOne
Dr.15107 34
fruit fly
(Drosophila melanogaster)
Insecta Grip163 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
OneToOne
Species where no ortholog for TUBGCP6 was found in the sources mined by GeneCards:
  • 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

Paralogs for TUBGCP6 Gene

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

Variants for TUBGCP6 Gene

Sequence variations from dbSNP and Humsavar for TUBGCP6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs192919234 Pathogenic 50,240,214(+) AACTC(A/G)CTCCC nc-transcript-variant, reference, stop-gained
rs368449236 Pathogenic 50,221,813(+) GTTGC(C/T)CTGCA intron-variant, nc-transcript-variant, reference, missense
rs387907019 Pathogenic 50,217,738(-) ACGCC(C/G/T)GAGGC nc-transcript-variant, downstream-variant-500B, reference, stop-lost
rs724159975 Pathogenic 50,224,196(-) AACTC(C/T)GAGAC nc-transcript-variant, reference, stop-gained
rs724159976 Pathogenic 50,220,794(-) CCCAT(A/G/T)GACAC intron-variant, nc-transcript-variant, reference, missense, stop-gained

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

Variant ID Type Subtype PubMed ID
dgv781n67 CNV gain 20364138
esv2230097 CNV deletion 18987734
esv26829 CNV loss 19812545
esv2724758 CNV deletion 23290073
esv2724759 CNV deletion 23290073
esv2724760 CNV deletion 23290073
esv3648086 CNV loss 21293372
nsv1066496 CNV loss 25217958
nsv1117322 CNV tandem duplication 24896259
nsv1130793 CNV deletion 24896259
nsv471223 CNV loss 18288195
nsv475774 CNV novel sequence insertion 20440878
nsv955199 CNV deletion 24416366

Variation tolerance for TUBGCP6 Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.08; 87.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBGCP6 Gene

Human Gene Mutation Database (HGMD)
TUBGCP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBGCP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBGCP6 Gene

Disorders for TUBGCP6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TUBGCP6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly and chorioretinopathy, autosomal recessive, 1
  • chorioretinal dysplasia-microcephaly-mental retardation syndrome
autosomal recessive chorioretinopathy-microcephaly syndrome
  • pseudotoxoplasmosis syndrome
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
seckel syndrome 1
  • seckel syndrome
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBGCP6
genes like me logo Genes that share disorders with TUBGCP6: view

No data available for Genatlas for TUBGCP6 Gene

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 64
  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 64
  3. 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 64
  4. Host determinants of HIV-1 control in African Americans. (PMID: 20205591) Pelak K. … . (J. Infect. Dis. 2010) 3 46 64
  5. 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 64

Products for TUBGCP6 Gene

Sources for TUBGCP6 Gene

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