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Aliases for TUBGCP6 Gene

Aliases for TUBGCP6 Gene

  • Tubulin Gamma Complex Associated Protein 6 2 3 5
  • Tubulin, Gamma Complex Associated Protein 6 2 3
  • GCP-6 3 4
  • GCP6 3 4
  • Gamma-Tubulin Complex Component 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 Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. 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

Promoters for TUBGCP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TUBGCP6 on UCSC Golden Path with GeneCards custom track

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

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

Antibody Products

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.
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

CRISPR Products

miRNA for TUBGCP6 Gene

miRTarBase miRNAs that target TUBGCP6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TUBGCP6 Gene COMPARTMENTS Subcellular localization image for TUBGCP6 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 2

Gene Ontology (GO) - Cellular Components for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000923 equatorial microtubule organizing center IBA --
GO:0005815 microtubule organizing center IEA --
GO:0008274 gamma-tubulin ring complex IDA 11694571
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

Interacting Proteins for TUBGCP6 Gene

Gene Ontology (GO) - Biological Process for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0007020 microtubule nucleation IDA 11694571
GO:0007126 meiotic nuclear division IBA --
genes like me logo Genes that share ontologies with TUBGCP6: view

No data available for SIGNOR curated interactions for TUBGCP6 Gene

Drugs & Compounds for TUBGCP6 Gene

No Compound Related Data Available

Transcripts for TUBGCP6 Gene

Unigene Clusters for TUBGCP6 Gene

Tubulin, gamma complex associated protein 6:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA 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 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, MOPED, and MaxQB for TUBGCP6 Gene



SOURCE GeneReport for Unigene cluster for TUBGCP6 Gene Hs.336431

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

Protein tissue co-expression partners for TUBGCP6 Gene

Primer Products

In Situ Assay 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 35
  • 78.72 (n)
  • 75.75 (a)
TUBGCP6 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBGCP6 35
  • 77.67 (n)
  • 75.43 (a)
TUBGCP6 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubgcp6 35
  • 78.34 (n)
  • 77.7 (a)
Tubgcp6 16
Tubgcp6 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubgcp6 35
  • 78.71 (n)
  • 78.58 (a)
oppossum
(Monodelphis domestica)
Mammalia TUBGCP6 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBGCP6 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBGCP6 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUBGCP6 35
  • 67.03 (n)
  • 70.21 (a)
TUBGCP6 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TUBGCP6 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18301 35
African clawed frog
(Xenopus laevis)
Amphibia grip210 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15107 35
TUBGCP6 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Grip163 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

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
rs4838865 - 50,226,183(+) AGTAC(A/G)ACTTA nc-transcript-variant, reference, missense
rs8137873 - 50,244,149(+) CCAAA(A/G)GCGGA nc-transcript-variant, reference, missense
rs35573482 - 50,225,905(+) ACCGA(C/G)ATCCG nc-transcript-variant, reference, missense
rs34455105 - 50,221,708(+) CCTCC(A/G)CCTGC intron-variant, nc-transcript-variant, reference, missense
rs17248287 - 50,220,665(+) AGCCA(C/T)GTCCG intron-variant, nc-transcript-variant, reference, missense

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

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

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

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

Disorders for TUBGCP6 Gene

MalaCards: The human disease database

(3) 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
seckel syndrome
  • bird-headed dwarfism
- 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. 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 67
  2. 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
  3. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for TUBGCP6 Gene

Sources for TUBGCP6 Gene

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