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    TUBGCP3 tubulin gamma complex component 3 [ Homo sapiens (human) ]

    Gene ID: 10426, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TUBGCP3provided by HGNC
    Official Full Name
    tubulin gamma complex component 3provided by HGNC
    Primary source
    HGNC:HGNC:18598
    See related
    Ensembl:ENSG00000126216 MIM:617818; AllianceGenome:HGNC:18598
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    104p; ALP6; GCP3; Spc98; SPBC98; Spc98p; Grip104
    Summary
    Enables gamma-tubulin binding activity. Predicted to be involved in meiotic cell cycle; microtubule cytoskeleton organization; and mitotic cell cycle. Located in cytoplasm and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 8.5), ovary (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TUBGCP3 in Genome Data Viewer
    Location:
    13q34
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (112485011..112605630, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (111732118..111854172, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113139325..113242467, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370373 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113032121-113033320 Neighboring gene uncharacterized LOC105370372 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:113046012-113046542 Neighboring gene sperm acrosome associated 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113161934-113162852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113233725-113234278 Neighboring gene uncharacterized LOC124903251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113242463-113243282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5529 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113271950-113272450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113279517-113280017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113291197-113291866 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:113296973-113297156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113302064-113302958 Neighboring gene ATP11A upstream neighbor lncRNA Neighboring gene Sharpr-MPRA regulatory region 9322 Neighboring gene uncharacterized LOC102725228 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113343189-113343706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5534

    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. The implications of a paternally derived centrosome during human fertilization: consequences for reproduction and the treatment of male factor infertility. Navara CS, et al. Am J Reprod Immunol, 1997 Jan. PMID 9138452
    2. CircTUBGCP3 Contributes to the Malignant Progression of Rectal Cancer. Wang Y, et al. Dig Dis Sci, 2022 Jul. PMID 34515875
    3. The mammalian gamma-tubulin complex contains homologues of the yeast spindle pole body components spc97p and spc98p. Murphy SM, et al. J Cell Biol, 1998 May 4. PMID 9566967, Free PMC Article
    4. Overexpression and Nucleolar Localization of γ-Tubulin Small Complex Proteins GCP2 and GCP3 in Glioblastoma. Dráberová E, et al. J Neuropathol Exp Neurol, 2015 Jul. PMID 26079448
    5. NMR secondary structure and interactions of recombinant human MOZART1 protein, a component of the gamma-tubulin complex. Cukier CD, et al. Protein Sci, 2017 Nov. PMID 28851027, Free PMC Article

    See all (89) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircTUBGCP3 Contributes to the Malignant Progression of Rectal Cancer.
      Title: CircTUBGCP3 Contributes to the Malignant Progression of Rectal Cancer.
    2. NMR secondary structure and interactions of recombinant human MOZART1 protein with its binding partner, GCP3, has been presented.
      Title: NMR secondary structure and interactions of recombinant human MOZART1 protein, a component of the gamma-tubulin complex.
    3. This study demonstrated that Overexpression and Nucleolar Localization gcp3 in glioblastoma.
      Title: Overexpression and Nucleolar Localization of γ-Tubulin Small Complex Proteins GCP2 and GCP3 in Glioblastoma.
    4. Authors show genetically that GCP3/Spc98 function is fully conserved with Alp6 across species but that functional differences exist between GCP2/Spc97 and Alp4.
      Title: Functional replacement of fission yeast γ-tubulin small complex proteins Alp4 and Alp6 by human GCP2 and GCP3.
    5. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Stability of the small gamma-tubulin complex (gamma tubulin/GCP2/GCP3) requires HCA66, a protein of the centrosome and the nucleolus.
      Title: Stability of the small gamma-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus.
    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

    EBI GWAS Catalog

    Description
    Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
    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 gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    enables structural molecule activity 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 single fertilization 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 centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasm 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
    		  
    located_in membrane HDA PubMed 
    located_in polar microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    gamma-tubulin complex component 3
    Names
    gamma-ring complex protein 104 kDa
    spindle pole body protein Spc98 homolog
    tubulin gamma complex associated protein 3

    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.

    mRNA and Protein(s)

    1. NM_001286277.2 → NP_001273206.1  gamma-tubulin complex component 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA720688, AF042378, AK302537, AK314785, AL139384, BC046634
      UniProtKB/TrEMBL
      B4DYP7
      Conserved Domains (1) summary
      pfam04130
      Location:243 → 753
      Spc97_Spc98; Spc97 / Spc98 family

    2. NM_001286278.2 → NP_001273207.1  gamma-tubulin complex component 3 isoform 3

      See identical proteins and their annotated locations for NP_001273207.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK314785, BC013781
      Consensus CDS
      CCDS66584.1
      UniProtKB/TrEMBL
      B4DYP7
      Related
      ENSP00000364821.3, ENST00000375669.7
      Conserved Domains (1) summary
      pfam04130
      Location:253 → 763
      Spc97_Spc98; Spc97 / Spc98 family

    3. NM_001286279.2 → NP_001273208.1  gamma-tubulin complex component 3 isoform 4

      See identical proteins and their annotated locations for NP_001273208.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks multiple 3' exons and its 3' terminal exon extends past a splice site that is used in variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK314785, BC007763, BP381545
      Consensus CDS
      CCDS73599.1
      UniProtKB/TrEMBL
      A0A087WU06
      Related
      ENSP00000478276.1, ENST00000464139.5
      Conserved Domains (1) summary
      pfam04130
      Location:253 → 389
      Spc97_Spc98; Spc97 / Spc98 family

    4. NM_006322.6 → NP_006313.1  gamma-tubulin complex component 3 isoform 1

      See identical proteins and their annotated locations for NP_006313.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA720688, AF042378, BC046634
      Consensus CDS
      CCDS9525.1
      UniProtKB/Swiss-Prot
      O43631, O60852, O60853, Q5T8L2, Q7Z4K1, Q96CW5, Q96I79
      UniProtKB/TrEMBL
      B4DYP7
      Related
      ENSP00000261965.3, ENST00000261965.8
      Conserved Domains (2) summary
      pfam04130
      Location:555 → 886
      Spc97_Spc98; Spc97 / Spc98 family
      pfam17681
      Location:251 → 552
      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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      112485011..112605630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020323.3 → XP_016875812.1  gamma-tubulin complex component 3 isoform X5

      Conserved Domains (1) summary
      pfam04130
      Location:24 → 534
      Spc97_Spc98; Spc97 / Spc98 family

    2. XM_011537462.3 → XP_011535764.1  gamma-tubulin complex component 3 isoform X2

      UniProtKB/TrEMBL
      B4DYP7
      Conserved Domains (1) summary
      pfam04130
      Location:253 → 663
      Spc97_Spc98; Spc97 / Spc98 family

    3. XM_047430039.1 → XP_047285995.1  gamma-tubulin complex component 3 isoform X5

    4. XM_047430038.1 → XP_047285994.1  gamma-tubulin complex component 3 isoform X5

    5. XM_047430036.1 → XP_047285992.1  gamma-tubulin complex component 3 isoform X3

    6. XM_047430037.1 → XP_047285993.1  gamma-tubulin complex component 3 isoform X4

    7. XM_005268293.3 → XP_005268350.1  gamma-tubulin complex component 3 isoform X1

      UniProtKB/TrEMBL
      B4DYP7
      Conserved Domains (1) summary
      pfam04130
      Location:253 → 763
      Spc97_Spc98; Spc97 / Spc98 family

    RNA

    1. XR_007063655.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187592.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      285981..305687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      111732118..111854172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374010.1 → XP_054229985.1  gamma-tubulin complex component 3 isoform X5

    2. XM_054374009.1 → XP_054229984.1  gamma-tubulin complex component 3 isoform X5

    3. XM_054374006.1 → XP_054229981.1  gamma-tubulin complex component 3 isoform X2

    4. XM_054374004.1 → XP_054229979.1  gamma-tubulin complex component 3 isoform X6

    5. XM_054374003.1 → XP_054229978.1  gamma-tubulin complex component 3 isoform X6

    6. XM_054374007.1 → XP_054229982.1  gamma-tubulin complex component 3 isoform X3

    7. XM_054374008.1 → XP_054229983.1  gamma-tubulin complex component 3 isoform X4

    8. XM_054374005.1 → XP_054229980.1  gamma-tubulin complex component 3 isoform X1

    RNA

    1. XR_008488725.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CW5.2 GenPept UniProtKB/Swiss-Prot:Q96CW5

    Gene LinkOut

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