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    Tbc1d21 TBC1 domain family, member 21 [ Mus musculus (house mouse) ]

    Gene ID: 74286, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Tbc1d21provided by MGI
    Official Full Name
    TBC1 domain family, member 21provided by MGI
    Primary source
    MGI:MGI:1921536
    See related
    Ensembl:ENSMUSG00000036244 AllianceGenome:MGI:1921536
    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
    MgcRabGAP; 1700095K08Rik
    Summary
    Enables actin binding activity. Involved in sperm axoneme assembly and sperm mitochondrial sheath assembly. Located in acrosomal vesicle and sperm midpiece. Orthologous to human TBC1D21 (TBC1 domain family member 21). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 63.2) See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d21 in Genome Data Viewer
    Location:
    9 B; 9 31.7 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (58266999..58277762, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (58359716..58370497, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene lysyl oxidase-like 1 Neighboring gene predicted gene, 53526 Neighboring gene RIKEN cDNA 1700072B07 gene Neighboring gene predicted gene, 53527 Neighboring gene STARR-seq mESC enhancer starr_24277 Neighboring gene STARR-seq mESC enhancer starr_24278 Neighboring gene RIKEN cDNA 4930461G14 gene Neighboring gene STARR-seq mESC enhancer starr_24279 Neighboring gene predicted gene, 32820

    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 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. TBC1D21 is an essential factor for sperm mitochondrial sheath assembly and male fertility‡. Chen Y, et al. Biol Reprod, 2022 Aug 9. PMID 35403672
    2. TBC1D21 Potentially Interacts with and Regulates Rap1 during Murine Spermatogenesis. Ke CC, et al. Int J Mol Sci, 2018 Oct 23. PMID 30360518, Free PMC Article
    3. Evaluation of the efficacy of creatine chemical exchange saturation transfer imaging in assessing testicular maturity. Kuribayashi S, et al. Reprod Med Biol, 2023 Jan-Dec. PMID 36845001, Free PMC Article
    4. Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice. Wang YY, et al. PLoS Genet, 2020 Sep. PMID 32976492, Free PMC Article
    5. Identification and characterization of a novel Rab GTPase-activating protein in spermatids. Lin YH, et al. Int J Androl, 2011 Oct. PMID 21128978

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TBC1D21 is an essential factor for sperm mitochondrial sheath assembly and male fertilitydouble dagger.
      Title: TBC1D21 is an essential factor for sperm mitochondrial sheath assembly and male fertility‡.
    2. ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.
      Title: ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.
    3. Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice.
      Title: Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice.
    4. TBC1D21 may interact with and potentially regulate Rap1 during murine spermatogenesis.
      Title: TBC1D21 Potentially Interacts with and Regulates Rap1 during Murine Spermatogenesis.
    5. MgcRabGAP is involved in acrosome/acroplaxome formation and cytoskeletal reorganization via Rab activity during mammalian spermiogenesis
      Title: Identification and characterization of a novel Rab GTPase-activating protein in spermatids.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118289

    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 actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm mitochondrial sheath assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm midpiece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TBC1 domain family member 21
    Names
    male germ cell Rab GTPase-activating 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_001357455.1 → NP_001344384.1  TBC1 domain family member 21 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AK007086, BC145239
      Conserved Domains (1) summary
      cl02495
      Location:62 → 286
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. NM_028854.4 → NP_083130.1  TBC1 domain family member 21 isoform 1

      See identical proteins and their annotated locations for NP_083130.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK007086
      Consensus CDS
      CCDS40655.1
      UniProtKB/Swiss-Prot
      B7ZNH3, Q9D9D3
      Related
      ENSMUSP00000037525.5, ENSMUST00000040217.6
      Conserved Domains (1) summary
      smart00164
      Location:62 → 287
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    RNA

    1. NR_151687.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK007086, BC145240
      Related
      ENSMUST00000213847.2

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      58266999..58277762 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313666.3 → XP_017169155.1  TBC1 domain family member 21 isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D9D3.1 GenPept UniProtKB/Swiss-Prot:Q9D9D3

    Gene LinkOut

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

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