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

    Gene ID: 27229, updated on 10-Dec-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
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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
    		Compare labs

    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

      UniProtKB/TrEMBL
      H3BPU4
      Related
      ENSP00000455474.1, ENST00000561691.5

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

      UniProtKB/TrEMBL
      H3BPU4

    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

      UniProtKB/TrEMBL
      H3BPU4

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

      UniProtKB/TrEMBL
      H3BPU4

    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

    Gene LinkOut

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

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