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    Septin12 septin 12 [ Mus musculus (house mouse) ]

    Gene ID: 71089, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Septin12provided by MGI
    Official Full Name
    septin 12provided by MGI
    Primary source
    MGI:MGI:1918339
    See related
    Ensembl:ENSMUSG00000022542 AllianceGenome:MGI:1918339
    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
    Sept12; 1700028G04Rik; 4933413B09Rik
    Summary
    Predicted to enable several functions, including GTP binding activity; GTPase activity; and protein homodimerization activity. Predicted to be involved in cytoskeleton-dependent cytokinesis and protein localization. Predicted to be located in several cellular components, including midbody; perinuclear region of cytoplasm; and sperm annulus. Predicted to be part of septin complex. Predicted to be active in cell division site; microtubule cytoskeleton; and septin ring. Is expressed in testis. Human ortholog(s) of this gene implicated in spermatogenic failure 10. Orthologous to human SEPTIN12 (septin 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 124.0) See more
    Orthologs
    human all
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    Genomic context

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    See Septin12 in Genome Data Viewer
    Location:
    16 A1; 16 2.49 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (4804722..4815716, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (4986858..4997852, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 3 Neighboring gene predicted gene, 36681 Neighboring gene dynein axonemal assembly factor 8 Neighboring gene STARR-positive B cell enhancer ABC_E7426 Neighboring gene small integral membrane protein 22 Neighboring gene rogdi homolog

    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 Loss of Septin12, but not its Haploinsufficiency, Leads to Male Infertility and Fertilization Failure. Chen H, et al. Front Cell Dev Biol, 2022. PMID 35547809, Free PMC Article
    2. The SEPT12 complex is required for the establishment of a functional sperm head-tail junction. Shen YR, et al. Mol Hum Reprod, 2020 Jun 1. PMID 32392324
    3. SEPT12 phosphorylation results in loss of the septin ring/sperm annulus, defective sperm motility and poor male fertility. Shen YR, et al. PLoS Genet, 2017 Mar. PMID 28346465, Free PMC Article
    4. SEPT12 deficiency causes sperm nucleus damage and developmental arrest of preimplantation embryos. Lin YH, et al. Fertil Steril, 2011 Jan. PMID 20801438
    5. CDC42 Negatively Regulates Testis-Specific SEPT12 Polymerization. Huang CY, et al. Int J Mol Sci, 2018 Sep 5. PMID 30189608, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proper phosphorylation of septin 12 regulates septin 4 and soluble adenylyl cyclase expression to induce sperm capacitation.
      Title: Proper phosphorylation of septin 12 regulates septin 4 and soluble adenylyl cyclase expression to induce sperm capacitation.
    2. We concluded that CDC42 negatively regulates SEPT12 polymerization and is involved in terminal structure formation of sperm heads.
      Title: CDC42 Negatively Regulates Testis-Specific SEPT12 Polymerization.
    3. Data suggest that SEPT12 phosphorylation inhibits septin ring assembly during annulus biogenesis.
      Title: SEPT12 phosphorylation results in loss of the septin ring/sperm annulus, defective sperm motility and poor male fertility.
    4. In mice sperm with mutated SEPT12, NDC1 dispersed around the manchette region of the sperm head and annulus, compared with concentrating at the sperm neck of wild-type sperm.
      Title: SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis.
    5. results demonstrate the molecular architecture of SEPT12 filaments at the sperm annulus, their mechanical support of sperm motility, and their correlation with male infertility.
      Title: SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins.
    6. Oocytes fertilized with spermatozoa obtained from Septin 12+/- chimeric mice failed to develop beyond the morula stage after IVF and intracytoplasmic sperm injection because of significant DNA defects in the spermatozoa
      Title: SEPT12 deficiency causes sperm nucleus damage and developmental arrest of preimplantation embryos.
    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

    • MGC144518

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytoskeleton-dependent cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell division site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in midbody ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of septin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of septin complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm annulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    septin-12

    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_001373945.1 → NP_001360874.1  septin-12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC163723
      Consensus CDS
      CCDS88872.1
      UniProtKB/TrEMBL
      A0A2R8VJU7
      Related
      ENSMUSP00000154901.2, ENSMUST00000230362.2
      Conserved Domains (1) summary
      cd01850
      Location:45 → 315
      CDC_Septin; CDC/Septin GTPase family

    2. NM_027669.3 → NP_081945.1  septin-12 isoform 1

      See identical proteins and their annotated locations for NP_081945.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK077091
      Consensus CDS
      CCDS27929.1
      UniProtKB/TrEMBL
      Q9D451
      Related
      ENSMUSP00000131062.3, ENSMUST00000170323.3
      Conserved Domains (1) summary
      cd01850
      Location:45 → 272
      CDC_Septin; CDC/Septin GTPase family

    3. NM_029374.1 → NP_083650.1  septin-12 isoform 2

      See identical proteins and their annotated locations for NP_083650.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK006458, AK077091
      Consensus CDS
      CCDS88871.1
      UniProtKB/TrEMBL
      Q9D9U8
      Related
      ENSMUSP00000155459.2, ENSMUST00000229321.2
      Conserved Domains (1) summary
      cd01850
      Location:45 → 272
      CDC_Septin; CDC/Septin GTPase family

    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
      4804722..4815716 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522580.1 → XP_006522643.1  septin-12 isoform X3

      Conserved Domains (1) summary
      cd01850
      Location:45 → 272
      CDC_Septin; CDC/Septin GTPase family

    2. XM_006522577.2 → XP_006522640.1  septin-12 isoform X1

      Conserved Domains (1) summary
      cd01850
      Location:45 → 320
      CDC_Septin; CDC/Septin GTPase family

    3. XM_006522579.3 → XP_006522642.1  septin-12 isoform X2

      Conserved Domains (1) summary
      cd01850
      Location:2 → 258
      CDC_Septin; CDC/Septin GTPase family
    Nucleotide Protein Strain
    Heading Accession and Version

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