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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
    mouse all
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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
    		not available

    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 Variation Viewer (GRCh37.p13)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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