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TUBGCP6 tubulin gamma complex component 6 [ Homo sapiens (human) ]

Gene ID: 85378, updated on 2-Nov-2024

Summary

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Official Symbol
TUBGCP6provided by HGNC
Official Full Name
tubulin gamma complex component 6provided by HGNC
Primary source
HGNC:HGNC:18127
See related
Ensembl:ENSG00000128159 MIM:610053; AllianceGenome:HGNC:18127
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GCP6; GCP-6; MCCRP; MCCRP1; MCPHCR
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]
Expression
Ubiquitous expression in spleen (RPKM 17.1), lymph node (RPKM 14.4) and 25 other tissues See more
Orthologs
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Genomic context

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See TUBGCP6 in Genome Data Viewer
Location:
22q13.33
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50217694..50245023, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50724656..50752025, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50656123..50683452, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TraB domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19306 Neighboring gene TRABD antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50644205-50644771 Neighboring gene selenoprotein O Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50644772-50645337 Neighboring gene SELENOO antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50645905-50646469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50658024-50658666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50676935-50677436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50677437-50677936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50682041-50682971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50685959-50686881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50688039-50688885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13959 Neighboring gene histone deacetylase 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50697131-50697703 Neighboring gene mitogen-activated protein kinase 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50698428-50698928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13962

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. GCP6 binds to intermediate filaments: a novel function of keratins in the organization of microtubules in epithelial cells. Oriolo AS, et al. Mol Biol Cell, 2007 Mar. PMID 17182859, Free PMC Article
  2. Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. Thomas-Wilson A, et al. Am J Med Genet A, 2023 Jul. PMID 37031378
  3. GCP6 is a substrate of Plk4 and required for centriole duplication. Bahtz R, et al. J Cell Sci, 2012 Jan 15. PMID 22302995
  4. SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA. Kato K, et al. Biochem Biophys Res Commun, 2022 Jan 15. PMID 34954520
  5. Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy. Shurygina MF, et al. Invest Ophthalmol Vis Sci, 2020 Nov 2. PMID 33137195, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
    Title: Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
  2. SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA.
    Title: SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA.
  3. Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
    Title: Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
  4. a family of 2 children with learning difficulties, abnormal peripheral retinal vasculogenesis, and rod-cone dystrophy were investigated. They were found to have bi-allelic splicing variants in TUBGCP6.
    Title: Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
  5. The data suggest that GCP6 is a target of Plk4 in centriole biogenesis.
    Title: GCP6 is a substrate of Plk4 and required for centriole duplication.
  6. Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS.
    Title: Genetic mapping and exome sequencing identify variants associated with five novel diseases.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Host determinants of HIV-1 control in African Americans.
  8. GCP6 participates in the attachment of microtubule-organizing centers to intermediate filaments in epithelial cells and is among the factors that determine the peculiar architecture of microtubules in polarized epithelia.
    Title: GCP6 binds to intermediate filaments: a novel function of keratins in the organization of microtubules in epithelial cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Microcephaly and chorioretinopathy 1
MedGen: C3278481 OMIM: 251270 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
EBI GWAS Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gamma-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to microtubule minus-end binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in meiotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule nucleation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule nucleation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spindle assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of gamma-tubulin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of gamma-tubulin ring complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in spindle pole IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
gamma-tubulin complex component 6
Names
tubulin gamma complex associated protein 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032160.2 RefSeqGene

    Range
    5000..32329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020461.4 → NP_065194.3  gamma-tubulin complex component 6

    Status: REVIEWED

    Source sequence(s)
    AL022328
    Consensus CDS
    CCDS14087.1
    UniProtKB/Swiss-Prot
    Q5JZ80, Q6PJ40, Q86YE9, Q96RT7, Q9BY91, Q9UGX3, Q9UGX4
    UniProtKB/TrEMBL
    B2RWN4
    Related
    ENSP00000248846.5, ENST00000248846.10
    Conserved Domains (3) summary
    pfam17380
    Location:630 → 834
    DUF5401; Family of unknown function (DUF5401)
    pfam04130
    Location:1513 → 1816
    Spc97_Spc98; Spc97 / Spc98 family
    pfam17681
    Location:353 → 610
    GCP_N_terminal; Gamma tubulin complex component N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    50217694..50245023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_938347.3 RNA Sequence

  2. XR_007067982.1 RNA Sequence

  3. XR_001755343.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    50724656..50752025 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008485416.1 RNA Sequence

  2. XR_008485418.1 RNA Sequence

  3. XR_008485417.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001008658.1: Suppressed sequence

    Description
    NM_001008658.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96RT7.3 GenPept UniProtKB/Swiss-Prot:Q96RT7

Gene LinkOut

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