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

Gene ID: 75801, updated on 2-Nov-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, Nov 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

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. 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

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