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TUBGCP4 tubulin gamma complex component 4 [ Homo sapiens (human) ]

Gene ID: 27229, updated on 27-Nov-2024

Summary

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Official Symbol
TUBGCP4provided by HGNC
Official Full Name
tubulin gamma complex component 4provided by HGNC
Primary source
HGNC:HGNC:16691
See related
Ensembl:ENSG00000137822 MIM:609610; AllianceGenome:HGNC:16691
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
76P; GCP4; GCP-4; Grip76; MCCRP3
Summary
This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
Expression
Ubiquitous expression in brain (RPKM 7.5), thyroid (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

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See TUBGCP4 in Genome Data Viewer
Location:
15q15.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43371101..43409771)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41178438..41217106)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43663299..43701969)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:43622679-43623629 Neighboring gene leucine carboxyl methyltransferase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:43647073-43647266 Neighboring gene N6-Methyl-AMP deaminase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9313 Neighboring gene zinc finger and SCAN domain containing 29 Neighboring gene RNA, 7SL, cytoplasmic 487, pseudogene Neighboring gene tumor protein p53 binding protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:43734212-43734815 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:43769402-43769643 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:43784380-43785088 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:43785089-43785795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43787292-43787792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43810281-43810924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43819912-43820544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43821526-43822026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43822027-43822527 Neighboring gene microtubule associated protein 1A Neighboring gene diphosphoinositol pentakisphosphate kinase 1

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
  • 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. Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature. Yahalom C, et al. Ophthalmic Genet, 2023 Dec. PMID 37038737
  2. Exosomal circTUBGCP4 promotes vascular endothelial cell tipping and colorectal cancer metastasis by activating Akt signaling pathway. Chen C, et al. J Exp Clin Cancer Res, 2023 Feb 15. PMID 36793126, Free PMC Article
  3. Clinical Significance of TUBGCP4 Expression in Hepatocellular Carcinoma. Zheng C, et al. Anal Cell Pathol (Amst), 2022. PMID 36530949, Free PMC Article
  4. Gene essentiality of Tubgcp4: dosage effect and autophagy regulation in retinal photoreceptors. Xu X, et al. Autophagy, 2019 Oct. PMID 31345090, Free PMC Article
  5. Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Scheidecker S, et al. Am J Hum Genet, 2015 Apr 2. PMID 25817018, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.
    Title: Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.
  2. Exosomal circTUBGCP4 promotes vascular endothelial cell tipping and colorectal cancer metastasis by activating Akt signaling pathway.
    Title: Exosomal circTUBGCP4 promotes vascular endothelial cell tipping and colorectal cancer metastasis by activating Akt signaling pathway.
  3. Clinical Significance of TUBGCP4 Expression in Hepatocellular Carcinoma.
    Title: Clinical Significance of TUBGCP4 Expression in Hepatocellular Carcinoma.
  4. 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.
  5. Gene essentiality of Tubgcp4: dosage effect and autophagy regulation in retinal photoreceptors.
    Title: Gene essentiality of Tubgcp4: dosage effect and autophagy regulation in retinal photoreceptors.
  6. Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
    Title: Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
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 3
MedGen: C4225362 OMIM: 616335 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Clone Names

  • FLJ14797

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gamma-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to microtubule minus-end binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of cytoskeleton NAS
Non-traceable Author Statement
more info
 PubMed 
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 NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein-containing complex assembly NAS
Non-traceable Author Statement
more info
 PubMed 
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 NAS
Non-traceable Author Statement
more info
 PubMed 
located_in membrane HDA PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in spindle pole IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
gamma-tubulin complex component 4
Names
gamma tubulin ring complex protein (76p gene)
gamma-ring complex protein 76 kDa
gamma-tubulin complex protein 4
tubulin gamma complex associated protein 4

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_042168.2 RefSeqGene

    Range
    5002..43672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286414.3 → NP_001273343.1  gamma-tubulin complex component 4 isoform a

    See identical proteins and their annotated locations for NP_001273343.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC018924, AK027703, CK299820
    Consensus CDS
    CCDS66745.1
    UniProtKB/Swiss-Prot
    B3KNK6, Q969X3, Q9NVF0, Q9UGJ1
    Related
    ENSP00000260383.7, ENST00000260383.11
    Conserved Domains (2) summary
    pfam04130
    Location:350 → 655
    Spc97_Spc98; Spc97 / Spc98 family
    pfam17681
    Location:2 → 347
    GCP_N_terminal; Gamma tubulin complex component N-terminal

  2. NM_014444.5 → NP_055259.2  gamma-tubulin complex component 4 isoform b

    See identical proteins and their annotated locations for NP_055259.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (b) is shorter than isoform 1.
    Source sequence(s)
    AC018924, BC012801, CK299820, DA396753
    Consensus CDS
    CCDS42030.1
    UniProtKB/Swiss-Prot
    Q9UGJ1
    Related
    ENSP00000456648.2, ENST00000564079.6
    Conserved Domains (1) summary
    pfam04130
    Location:4 → 572
    Spc97_Spc98; Spc97 / Spc98 family

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    43371101..43409771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521454.4 → XP_011519756.1  gamma-tubulin complex component 4 isoform X3

    Conserved Domains (1) summary
    pfam04130
    Location:4 → 573
    Spc97_Spc98; Spc97 / Spc98 family

  2. XM_017022078.3 → XP_016877567.1  gamma-tubulin complex component 4 isoform X4

  3. XM_047432390.1 → XP_047288346.1  gamma-tubulin complex component 4 isoform X1

  4. XM_047432391.1 → XP_047288347.1  gamma-tubulin complex component 4 isoform X2

  5. XM_047432392.1 → XP_047288348.1  gamma-tubulin complex component 4 isoform X6

    Related
    ENSP00000455474.1, ENST00000561691.5

  6. XM_047432393.1 → XP_047288349.1  gamma-tubulin complex component 4 isoform X7

  7. XM_011521455.3 → XP_011519757.1  gamma-tubulin complex component 4 isoform X5

    See identical proteins and their annotated locations for XP_011519757.1

    UniProtKB/Swiss-Prot
    Q9UGJ1
    Conserved Domains (2) summary
    pfam04130
    Location:214 → 519
    Spc97_Spc98; Spc97 / Spc98 family
    pfam17681
    Location:2 → 211
    GCP_N_terminal; Gamma tubulin complex component N-terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    41178438..41217106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377733.1 → XP_054233708.1  gamma-tubulin complex component 4 isoform X3

  2. XM_054377734.1 → XP_054233709.1  gamma-tubulin complex component 4 isoform X4

  3. XM_054377731.1 → XP_054233706.1  gamma-tubulin complex component 4 isoform X1

  4. XM_054377732.1 → XP_054233707.1  gamma-tubulin complex component 4 isoform X2

  5. XM_054377736.1 → XP_054233711.1  gamma-tubulin complex component 4 isoform X6

  6. XM_054377737.1 → XP_054233712.1  gamma-tubulin complex component 4 isoform X7

  7. XM_054377735.1 → XP_054233710.1  gamma-tubulin complex component 4 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UGJ1.1 GenPept UniProtKB/Swiss-Prot:Q9UGJ1

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