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    tbck TBC1 domain containing kinase [ Danio rerio (zebrafish) ]

    Gene ID: 791155, updated on 2-Nov-2024

    Summary

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    Official Symbol
    tbckprovided by ZNC
    Official Full Name
    TBC1 domain containing kinaseprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-070112-1062
    See related
    Ensembl:ENSDARG00000013667 AllianceGenome:ZFIN:ZDB-GENE-070112-1062
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    im:7138354; wu:fc74a10; zgc:158710
    Summary
    Predicted to enable GTPase activator activity. Acts upstream of or within heart development. Is expressed in heart and heart tube. Human ortholog(s) of this gene implicated in infantile hypotonia with psychomotor retardation and characteristic facies-3. Orthologous to human TBCK (TBC1 domain containing kinase). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See tbck in Genome Data Viewer
    Location:
    chromosome: 1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 1 NC_007112.7 (50198607..50293944, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 1 NC_007112.6 (49554780..49650130, complement)

    Chromosome 1 - NC_007112.7Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase, C-terminal domain containing Neighboring gene sphingomyelin synthase 2a Neighboring gene nephronectin a Neighboring gene aminoacyl tRNA synthetase complex interacting multifunctional protein 1a Neighboring gene dickkopf WNT signaling pathway inhibitor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish. Ma J, et al. Cell Mol Life Sci, 2022 Dec 27. PMID 36574072, Free PMC Article
    2. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TBC domain-containing protein kinase-like protein

    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_001080637.2 → NP_001074106.2  TBC domain-containing protein kinase-like protein

      See identical proteins and their annotated locations for NP_001074106.2

      Status: PROVISIONAL

      Source sequence(s)
      BX537118, CR387924, CR854985
      UniProtKB/TrEMBL
      A0A8M1NCW1, E7F1V3
      Related
      ENSDARP00000143948.1, ENSDART00000175142.2
      Conserved Domains (4) summary
      smart00164
      Location:467 → 671
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      smart00220
      Location:43 → 268
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl00125
      Location:788 → 882
      RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
      cl21453
      Location:41 → 263
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007112.7 Reference GRCz11 Primary Assembly

      Range
      50198607..50293944 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005160101.5 → XP_005160158.1  TBC domain-containing protein kinase-like protein isoform X1

      See identical proteins and their annotated locations for XP_005160158.1

      UniProtKB/TrEMBL
      A0A8M1NCW1, E7F1V3
      Related
      ENSDARP00000109057.3, ENSDART00000125099.5
      Conserved Domains (4) summary
      smart00164
      Location:467 → 671
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      smart00220
      Location:43 → 268
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl00125
      Location:788 → 882
      RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
      cl21453
      Location:41 → 263
      PKc_like; Protein Kinases, catalytic domain
    Nucleotide Protein Strain
    Heading Accession and Version

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