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    TBCCD1 TBCC domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55171, updated on 9-Dec-2024

    Summary

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    Official Symbol
    TBCCD1provided by HGNC
    Official Full Name
    TBCC domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25546
    See related
    Ensembl:ENSG00000113838 MIM:619848; AllianceGenome:HGNC:25546
    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
    Summary
    Involved in several processes, including maintenance of Golgi location; maintenance of centrosome location; and regulation of cell shape. Located in spindle pole centrosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 10.9), thyroid (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBCCD1 in Genome Data Viewer
    Location:
    3q27.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186546067..186570543, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189361789..189386265, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186263856..186288332, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186194185-186194957 Neighboring gene long intergenic non-protein coding RNA 2051 Neighboring gene Sharpr-MPRA regulatory region 13089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20942 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:186270000-186271199 Neighboring gene crystallin gamma S Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14987 Neighboring gene DnaJ heat shock protein family (Hsp40) member B11 Neighboring gene Sharpr-MPRA regulatory region 9080 Neighboring gene PET100 pseudogene 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. TBCCD1, a new centrosomal protein, is required for centrosome and Golgi apparatus positioning. Gonçalves J, et al. EMBO Rep, 2010 Mar. PMID 20168327, Free PMC Article
    2. Systematic Analysis of Human Protein Phosphatase Interactions and Dynamics. Yadav L, et al. Cell Syst, 2017 Apr 26. PMID 28330616
    3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    4. A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling. Kumar P, et al. J Proteome Res, 2017 Aug 4. PMID 28675297, Free PMC Article
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10560

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maintenance of Golgi location IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maintenance of Golgi location IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maintenance of centrosome location IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maintenance of centrosome location IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in spindle pole centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle pole centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TBCC domain-containing protein 1

    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_001134415.1 → NP_001127887.1  TBCC domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001127887.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC068631, BC025748, CA428099, DB033833
      Consensus CDS
      CCDS3276.1
      UniProtKB/Swiss-Prot
      B3KW69, D3DNU6, G5E9J4, Q9NVR7
      Related
      ENSP00000411253.1, ENST00000424280.5
      Conserved Domains (1) summary
      pfam07986
      Location:329 → 444
      TBCC; Tubulin binding cofactor C

    2. NM_001286749.2 → NP_001273678.1  TBCC domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_001273678.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks part of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC068631, AK124362, BC025748, CA428099
      Consensus CDS
      CCDS75061.1
      UniProtKB/Swiss-Prot
      Q9NVR7
      Related
      ENSP00000397091.1, ENST00000446782.5
      Conserved Domains (1) summary
      pfam07986
      Location:233 → 348
      TBCC; Tubulin binding cofactor C

    3. NM_018138.5 → NP_060608.1  TBCC domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_060608.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC068631, AK124362, BC025748, CA428099
      Consensus CDS
      CCDS3276.1
      UniProtKB/Swiss-Prot
      B3KW69, D3DNU6, G5E9J4, Q9NVR7
      Related
      ENSP00000341652.5, ENST00000338733.10
      Conserved Domains (1) summary
      pfam07986
      Location:329 → 444
      TBCC; Tubulin binding cofactor C

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      186546067..186570543 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      189361789..189386265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVR7.1 GenPept UniProtKB/Swiss-Prot:Q9NVR7

    Gene LinkOut

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

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