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

Gene ID: 74286, updated on 18-Sep-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. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to act upstream of or within cell differentiation and spermatogenesis. Located in acrosomal vesicle. Orthologous to human TBC1D21 (TBC1 domain family member 21). [provided by Alliance of Genome Resources, Apr 2022]
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 (17) 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.

Chemical Information
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