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

Gene ID: 85378, updated on 7-Jul-2019

Summary

Official Symbol
TUBGCP6provided by HGNC
Official Full Name
tubulin gamma complex associated protein 6provided by HGNC
Primary source
HGNC:HGNC:18127
See related
Ensembl:ENSG00000128159 MIM:610053
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

Genomic context

See TUBGCP6 in Genome Data Viewer
Location:
22q13.33
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (50217694..50245028, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50656118..50683453, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TraB domain containing Neighboring gene uncharacterized LOC105373095 Neighboring gene selenoprotein O Neighboring gene histone deacetylase 10 Neighboring gene mitogen-activated protein kinase 12

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

Associated conditions

Description Tests
Microcephaly with chorioretinopathy, autosomal recessive
MedGen: C3278481 OMIM: 251270 GeneReviews: Not available
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NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Recruitment of NuMA to mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Recruitment of NuMA to mitotic centrosomes, organism-specific biosystemThe NuMA protein, which functions as a nuclear matrix protein in interphase (Merdes and Cleveland 1998), redistributes to the cytoplasm following nuclear envelope breakdown where it plays an essen...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gamma-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Process Evidence Code Pubs
cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule nucleation IDA
Inferred from Direct Assay
more info
PubMed 
microtubule nucleation by interphase microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
equatorial microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-tubulin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-tubulin ring complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-tubulin ring complex IDA
Inferred from Direct Assay
more info
PubMed 
gamma-tubulin small complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
spindle pole IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gamma-tubulin complex component 6

NCBI Reference Sequences (RefSeq)

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_032160.1 RefSeqGene

    Range
    5001..32283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL022328
    Consensus CDS
    CCDS14087.1
    Related
    ENSP00000248846.5, ENST00000248846.10
    Conserved Domains (3) summary
    pfam04130
    Location:355606
    Spc97_Spc98; Spc97 / Spc98 family
    cl25742
    Location:631808
    ERM; Ezrin/radixin/moesin family
    cl26464
    Location:8451049
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    50217694..50245028 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_938347.2 RNA Sequence

  2. XR_001755343.2 RNA Sequence

    Related
    ENST00000439308.6
  3. XR_002958720.1 RNA Sequence

    Related
    ENST00000498611.5
  4. XR_001755344.2 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.
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