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    Tbc1d23 TBC1 domain family, member 23 [ Mus musculus (house mouse) ]

    Gene ID: 67581, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Tbc1d23provided by MGI
    Official Full Name
    TBC1 domain family, member 23provided by MGI
    Primary source
    MGI:MGI:1914831
    See related
    Ensembl:ENSMUSG00000022749 AllianceGenome:MGI:1914831
    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
    4930451A13Rik; D030022P07Rik
    Summary
    Involved in embryonic brain development; neuron projection development; and vesicle-mediated transport. Acts upstream of or within positive regulation of interleukin-6 production; regulation of inflammatory response; and regulation of tumor necrosis factor production. Part of WASH complex. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia. Orthologous to human TBC1D23 (TBC1 domain family member 23). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 9.9), limb E14.5 (RPKM 9.6) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    16 C1.1; 16 34.22 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (56989225..57051891, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (57168862..57231528, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene translocase of outer mitochondrial membrane 70A Neighboring gene STARR-seq mESC enhancer starr_41078 Neighboring gene STARR-positive B cell enhancer ABC_E8637 Neighboring gene predicted gene, 16892 Neighboring gene nitrilase family, member 2 Neighboring gene STARR-positive B cell enhancer ABC_E11617 Neighboring gene STARR-positive B cell enhancer mm9_chr16:57231379-57231680 Neighboring gene STARR-seq mESC enhancer starr_41080 Neighboring gene STARR-seq mESC enhancer starr_41081 Neighboring gene STARR-seq mESC enhancer starr_41082 Neighboring gene STARR-seq mESC enhancer starr_41083 Neighboring gene transmembrane protein 30C Neighboring gene predicted gene, 26800 Neighboring gene RIKEN cDNA 4921517D16 gene Neighboring gene cms small ribosomal subunit 1

    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. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Ivanova EL, et al. Am J Hum Genet, 2017 Sep 7. PMID 28823707, Free PMC Article
    2. Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP. De Arras L, et al. J Immunol, 2012 Mar 15. PMID 22312129, Free PMC Article
    3. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. Shin JJH, et al. Nat Cell Biol, 2017 Dec. PMID 29084197, Free PMC Article
    4. Identification of FMRP target mRNAs in the developmental brain: FMRP might coordinate Ras/MAPK, Wnt/β-catenin, and mTOR signaling during corticogenesis. Casingal CR, et al. Mol Brain, 2020 Dec 16. PMID 33323119, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homozygous Truncating Variants in TBC1D23 gene are associated with Pontocerebellar Hypoplasia and Alter Cortical Development.
      Title: Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
    2. we now show that Tbc1d23 is a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin-signaling pathways
      Title: Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (1) 
    • Endonuclease-mediated (1) 

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in embryonic brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in embryonic brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle tethering to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle tethering to Golgi ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of WASH complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of WASH complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 23

    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_001358433.1 → NP_001345362.1  TBC1 domain family member 23 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC154625
      Consensus CDS
      CCDS88947.1
      UniProtKB/TrEMBL
      A0A2I3BRD1
      Related
      ENSMUSP00000154535.2, ENSMUST00000226586.2
      Conserved Domains (2) summary
      pfam00566
      Location:48 → 246
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam00581
      Location:334 → 384
      Rhodanese; Rhodanese-like domain

    2. NM_001358434.1 → NP_001345363.1  TBC1 domain family member 23 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC154625
      Conserved Domains (2) summary
      pfam00581
      Location:101 → 151
      Rhodanese; Rhodanese-like domain
      cd20788
      Location:346 → 460
      TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins

    3. NM_026254.2 → NP_080530.2  TBC1 domain family member 23 isoform 2

      See identical proteins and their annotated locations for NP_080530.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      BC031706
      Consensus CDS
      CCDS28228.1
      UniProtKB/Swiss-Prot
      Q3TAW9, Q8K0F1, Q8VE48
      Related
      ENSMUSP00000023431.7, ENSMUST00000023431.8
      Conserved Domains (2) summary
      pfam00566
      Location:79 → 246
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl00125
      Location:328 → 439
      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 ...

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      56989225..57051891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160099.1 → XP_036015992.1  TBC1 domain family member 23 isoform X5

      Conserved Domains (2) summary
      pfam00581
      Location:101 → 151
      Rhodanese; Rhodanese-like domain
      cd20788
      Location:331 → 445
      TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins

    2. XM_030249251.1 → XP_030105111.1  TBC1 domain family member 23 isoform X2

      Conserved Domains (2) summary
      pfam00581
      Location:182 → 229
      Rhodanese; Rhodanese-like domain
      cl02495
      Location:4 → 94
      RabGAP-TBC; Rab-GTPase-TBC domain

    3. XM_036160100.1 → XP_036015993.1  TBC1 domain family member 23 isoform X5

      Conserved Domains (2) summary
      pfam00581
      Location:101 → 151
      Rhodanese; Rhodanese-like domain
      cd20788
      Location:331 → 445
      TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins

    4. XM_030249252.2 → XP_030105112.1  TBC1 domain family member 23 isoform X4

      Conserved Domains (2) summary
      pfam00581
      Location:97 → 147
      Rhodanese; Rhodanese-like domain
      cd20788
      Location:342 → 456
      TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins

    5. XM_030249253.2 → XP_030105113.1  TBC1 domain family member 23 isoform X4

      Conserved Domains (2) summary
      pfam00581
      Location:97 → 147
      Rhodanese; Rhodanese-like domain
      cd20788
      Location:342 → 456
      TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins

    6. XM_006522485.3 → XP_006522548.1  TBC1 domain family member 23 isoform X1

      Conserved Domains (2) summary
      pfam00581
      Location:182 → 229
      Rhodanese; Rhodanese-like domain
      cl02495
      Location:4 → 94
      RabGAP-TBC; Rab-GTPase-TBC domain

    7. XM_036160098.1 → XP_036015991.1  TBC1 domain family member 23 isoform X4

      Conserved Domains (2) summary
      pfam00581
      Location:97 → 147
      Rhodanese; Rhodanese-like domain
      cd20788
      Location:342 → 456
      TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins

    8. XM_030249250.2 → XP_030105110.1  TBC1 domain family member 23 isoform X1

      Conserved Domains (2) summary
      pfam00581
      Location:182 → 229
      Rhodanese; Rhodanese-like domain
      cl02495
      Location:4 → 94
      RabGAP-TBC; Rab-GTPase-TBC domain

    9. XM_036160097.1 → XP_036015990.1  TBC1 domain family member 23 isoform X3

      Conserved Domains (2) summary
      pfam00581
      Location:101 → 151
      Rhodanese; Rhodanese-like domain
      cd20788
      Location:346 → 460
      TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K0F1.1 GenPept UniProtKB/Swiss-Prot:Q8K0F1

    Gene LinkOut

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

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