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    Tbcd tubulin-specific chaperone d [ Mus musculus (house mouse) ]

    Gene ID: 108903, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tbcdprovided by MGI
    Official Full Name
    tubulin-specific chaperone dprovided by MGI
    Primary source
    MGI:MGI:1919686
    See related
    Ensembl:ENSMUSG00000039230 AllianceGenome:MGI:1919686
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0988; 2310057L06Rik; A030005L14Rik
    Summary
    Predicted to enable GTPase activator activity and beta-tubulin binding activity. Predicted to be involved in several processes, including cell-cell junction assembly; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to be located in bicellular tight junction and centrosome. Predicted to be active in lateral plasma membrane. Human ortholog(s) of this gene implicated in early onset progressive encephalopathy with brain atrophy and thin corpus callosum. Orthologous to human TBCD (tubulin folding cofactor D). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 8.3), whole brain E14.5 (RPKM 7.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbcd in Genome Data Viewer
    Location:
    11 E2; 11 85.41 cM
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (121342817..121507996)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (121451991..121617170)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr11:121282511-121282812 Neighboring gene fructosamine 3 kinase related protein Neighboring gene STARR-positive B cell enhancer mm9_chr11:121312999-121313300 Neighboring gene fructosamine 3 kinase Neighboring gene STARR-seq mESC enhancer starr_31381 Neighboring gene zinc finger protein 750 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:121420970-121421165 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 Neighboring gene STARR-seq mESC enhancer starr_31382 Neighboring gene predicted gene, 53659 Neighboring gene ribosomal protein, large, P0 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Wen HL, et al. Hum Mol Genet, 2010 May 1. PMID 20176735
    2. Prediction of the coding sequences of mouse homologues of KIAA gene: I. The complete nucleotide sequences of 100 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2002 Oct 31. PMID 12465718
    3. Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain. Lee Y, et al. Biochem Biophys Res Commun, 2020 Aug 13. PMID 32560809
    4. Complementary proteomics strategies capture an ataxin-1 interactome in Neuro-2a cells. Zhang S, et al. Sci Data, 2018 Nov 20. PMID 30457570, Free PMC Article
    5. The central role of EED in the orchestration of polycomb group complexes. Cao Q, et al. Nat Commun, 2014. PMID 24457600, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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 MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables beta-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables beta-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in adherens junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adherens junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in bicellular tight junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in bicellular tight junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell morphogenesis involved in neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell morphogenesis involved in neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cell-substrate adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of microtubule polymerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of microtubule polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in post-chaperonin tubulin folding pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in post-chaperonin tubulin folding pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein folding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein folding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in tubulin complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tubulin complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    tubulin-specific chaperone D
    Names
    beta-tubulin cofactor D
    tubulin-folding cofactor D

    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_029878.4 → NP_084154.1  tubulin-specific chaperone D

      See identical proteins and their annotated locations for NP_084154.1

      Status: VALIDATED

      Source sequence(s)
      AK041464, AK050199, BY513705, CK622820
      Consensus CDS
      CCDS25778.1
      UniProtKB/Swiss-Prot
      Q8BYA0
      Related
      ENSMUSP00000099302.4, ENSMUST00000103013.10
      Conserved Domains (2) summary
      pfam12612
      Location:900 → 1090
      TFCD_C; Tubulin folding cofactor D C terminal
      cl19887
      Location:63 → 887
      TFCD_C; Tubulin folding cofactor D C terminal

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      121342817..121507996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030245468.2 → XP_030101328.1  tubulin-specific chaperone D isoform X3

      Conserved Domains (2) summary
      pfam12612
      Location:340 → 525
      TFCD_C; Tubulin folding cofactor D C terminal
      cl19887
      Location:282 → 323
      TFCD_C; Tubulin folding cofactor D C terminal

    2. XM_006531973.5 → XP_006532036.1  tubulin-specific chaperone D isoform X1

      Conserved Domains (2) summary
      pfam12612
      Location:516 → 701
      TFCD_C; Tubulin folding cofactor D C terminal
      cl19887
      Location:29 → 499
      TFCD_C; Tubulin folding cofactor D C terminal

    3. XM_006531974.5 → XP_006532037.1  tubulin-specific chaperone D isoform X2

      Conserved Domains (2) summary
      pfam12612
      Location:487 → 672
      TFCD_C; Tubulin folding cofactor D C terminal
      cl19887
      Location:28 → 470
      TFCD_C; Tubulin folding cofactor D C terminal

    4. XM_006531975.1 → XP_006532038.1  tubulin-specific chaperone D isoform X3

      Conserved Domains (2) summary
      pfam12612
      Location:340 → 525
      TFCD_C; Tubulin folding cofactor D C terminal
      cl19887
      Location:282 → 323
      TFCD_C; Tubulin folding cofactor D C terminal
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BYA0.1 GenPept UniProtKB/Swiss-Prot:Q8BYA0

    Gene LinkOut

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

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