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    4930447C04Rik RIKEN cDNA 4930447C04 gene [ Mus musculus (house mouse) ]

    Gene ID: 75801, updated on 9-Dec-2024

    Summary

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    Official Symbol
    4930447C04Rikprovided by MGI
    Official Full Name
    RIKEN cDNA 4930447C04 geneprovided by MGI
    Primary source
    MGI:MGI:1923051
    See related
    Ensembl:ENSMUSG00000021098 AllianceGenome:MGI:1923051
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Six6OS; Six6as; Six6os1; 4921504I02Rik; A930035O15Rik
    Summary
    Involved in meiosis I; oogenesis; and spermatogenesis. Located in central element. Is expressed in several structures, including genitourinary system; intestine; liver; lung; and retina. Human ortholog(s) of this gene implicated in primary ovarian insufficiency 18 and spermatogenic failure 52. Orthologous to human C14orf39 (chromosome 14 open reading frame 39). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in frontal lobe adult (RPKM 2.3), cortex adult (RPKM 1.7) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See 4930447C04Rik in Genome Data Viewer
    Location:
    12 C3; 12 30.3 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (72926967..72964742, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (72880193..72917957, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33785 Neighboring gene STARR-seq mESC enhancer starr_32453 Neighboring gene predicted gene, 40441 Neighboring gene STARR-seq mESC enhancer starr_32455 Neighboring gene sine oculis-related homeobox 6 Neighboring gene STARR-seq mESC enhancer starr_32458 Neighboring gene microRNA 9718 Neighboring gene sine oculis-related homeobox 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Fan S, et al. Am J Hum Genet, 2021 Feb 4. PMID 33508233, Free PMC Article
    2. Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility. Sánchez-Sáez F, et al. Sci Adv, 2020 Sep. PMID 32917591, Free PMC Article
    3. C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility. Gómez-H L, et al. Nat Commun, 2016 Oct 31. PMID 27796301, Free PMC Article
    4. The Zip4 protein directly couples meiotic crossover formation to synaptonemal complex assembly. Pyatnitskaya A, et al. Genes Dev, 2022 Jan 1. PMID 34969823, Free PMC Article
    5. M1AP interacts with the mammalian ZZS complex and promotes male meiotic recombination. Li Y, et al. EMBO Rep, 2023 Feb 6. PMID 36440627, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SIX6OS1 is essential for the appropriate processing of intermediate recombination nodules before crossover formation
      Title: C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in homologous chromosome pairing at meiosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in meiotic DNA double-strand break processing involved in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic DNA double-strand break processing involved in reciprocal meiotic recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in meiotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in oogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptonemal complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in central element IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in central element IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein SIX6OS1
    Names
    Six6 antisense
    six6 opposite strand transcript 1 homolog

    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_029444.2 → NP_083720.1  protein SIX6OS1

      See identical proteins and their annotated locations for NP_083720.1

      Status: PROVISIONAL

      Source sequence(s)
      AK015397
      Consensus CDS
      CCDS25971.1
      UniProtKB/Swiss-Prot
      Q9CTN5, Q9D5F5, Q9D5Y9
      UniProtKB/TrEMBL
      B2RQE0
      Related
      ENSMUSP00000035376.6, ENSMUST00000044000.12
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 574
      S6OS1; Six6 opposite strand transcript 1 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_000078.7 Reference GRCm39 C57BL/6J

      Range
      72926967..72964742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011244201.3 → XP_011242503.1  protein SIX6OS1 isoform X1

      See identical proteins and their annotated locations for XP_011242503.1

      UniProtKB/TrEMBL
      B2RQE0
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 577
      S6OS1; Six6 opposite strand transcript 1 family

    2. XM_017315237.1 → XP_017170726.1  protein SIX6OS1 isoform X2

      UniProtKB/TrEMBL
      B2RQE0
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 576
      S6OS1; Six6 opposite strand transcript 1 family

    3. XM_017315239.1 → XP_017170728.1  protein SIX6OS1 isoform X4

      UniProtKB/TrEMBL
      B2RQE0
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 540
      S6OS1; Six6 opposite strand transcript 1 family

    4. XM_017315238.1 → XP_017170727.1  protein SIX6OS1 isoform X3

      UniProtKB/TrEMBL
      B2RQE0
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 575
      S6OS1; Six6 opposite strand transcript 1 family

    5. XM_011244200.2 → XP_011242502.1  protein SIX6OS1 isoform X1

      See identical proteins and their annotated locations for XP_011242502.1

      UniProtKB/TrEMBL
      B2RQE0
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 577
      S6OS1; Six6 opposite strand transcript 1 family

    6. XM_011244203.3 → XP_011242505.1  protein SIX6OS1 isoform X1

      See identical proteins and their annotated locations for XP_011242505.1

      UniProtKB/TrEMBL
      B2RQE0
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 577
      S6OS1; Six6 opposite strand transcript 1 family

    7. XM_011244202.2 → XP_011242504.1  protein SIX6OS1 isoform X1

      See identical proteins and their annotated locations for XP_011242504.1

      UniProtKB/TrEMBL
      B2RQE0
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 577
      S6OS1; Six6 opposite strand transcript 1 family

    8. XM_011244205.3 → XP_011242507.1  protein SIX6OS1 isoform X5

      UniProtKB/TrEMBL
      B2RQE0
      Conserved Domains (1) summary
      pfam15676
      Location:1 → 468
      S6OS1; Six6 opposite strand transcript 1 family

    9. XM_011244206.2 → XP_011242508.1  protein SIX6OS1 isoform X6

      Conserved Domains (1) summary
      pfam15676
      Location:6 → 411
      S6OS1; Six6 opposite strand transcript 1 family

    RNA

    1. XR_001780504.1 RNA Sequence

    2. XR_001780501.1 RNA Sequence

    3. XR_001780502.1 RNA Sequence

    4. XR_001780500.1 RNA Sequence

    5. XR_004937553.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CTN5.2 GenPept UniProtKB/Swiss-Prot:Q9CTN5

    Gene LinkOut

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

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