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    Llcfc1 LLLL and CFNLAS motif containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 76606, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Llcfc1provided by MGI
    Official Full Name
    LLLL and CFNLAS motif containing 1provided by MGI
    Primary source
    MGI:MGI:1923856
    See related
    Ensembl:ENSMUSG00000029867 AllianceGenome:MGI:1923856
    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
    1700034O15Rik
    Summary
    Involved in fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in extracellular region. Is expressed in ductus deferens; epididymis; and testis. Orthologous to human LLCFC1 (LLLL and CFNLAS motif containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 201.4) See more
    Orthologs
    human all
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    Genomic context

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    See Llcfc1 in Genome Data Viewer
    Location:
    6 B2.1; 6 19.86 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (41661321..41662651)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (41684387..41685717)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38795 Neighboring gene transient receptor potential cation channel, subfamily V, member 6 Neighboring gene predicted gene, 34642 Neighboring gene transient receptor potential cation channel, subfamily V, member 5 Neighboring gene Kell blood group Neighboring gene predicted gene, 38796

    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. ZP2 cleavage blocks polyspermy by modulating the architecture of the egg coat. Nishio S, et al. Cell, 2024 Mar 14. PMID 38490181,
    2. Sperm proteins SOF1, TMEM95, and SPACA6 are required for sperm-oocyte fusion in mice. Noda T, et al. Proc Natl Acad Sci U S A, 2020 May 26. PMID 32393636, Free PMC Article
    3. Sperm IZUMO1 Is Required for Binding Preceding Fusion With Oolemma in Mice and Rats. Matsumura T, et al. Front Cell Dev Biol, 2021. PMID 35096839, Free PMC Article
    4. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    5. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sperm proteins SOF1, TMEM95, and SPACA6 are required for sperm-oocyte fusion in mice.
      Title: Sperm proteins SOF1, TMEM95, and SPACA6 are required for sperm-oocyte fusion in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4)  1 citation
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 fusion of sperm to egg plasma membrane involved in single fertilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm-egg fusion protein LLCFC1
    Names
    LLLL and CFNLAS motif-containing protein 1
    MSSP-binding protein CTM-1
    sperm-oocyte fusion required protein 1
    uncharacterized protein C7orf34 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_001381952.1 → NP_001368881.1  sperm-egg fusion protein LLCFC1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC156400
      Conserved Domains (1) summary
      pfam15838
      Location:42 → 112
      DUF4717; Domain of unknown function (DUF4717)

    2. NM_001381953.1 → NP_001368882.1  sperm-egg fusion protein LLCFC1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC156400
      Conserved Domains (1) summary
      pfam15838
      Location:24 → 68
      DUF4717; Domain of unknown function (DUF4717)

    3. NM_001381954.1 → NP_001368883.1  sperm-egg fusion protein LLCFC1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC156400
      Conserved Domains (1) summary
      pfam15838
      Location:1 → 61
      DUF4717; Domain of unknown function (DUF4717)

    4. NM_029671.2 → NP_083947.1  sperm-egg fusion protein LLCFC1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_083947.1

      Status: VALIDATED

      Source sequence(s)
      AC156400
      Consensus CDS
      CCDS20054.1
      UniProtKB/Swiss-Prot
      Q9D9P8
      Related
      ENSMUSP00000031900.6, ENSMUST00000031900.6
      Conserved Domains (1) summary
      pfam15838
      Location:37 → 107
      DUF4717; Domain of unknown function (DUF4717)

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      41661321..41662651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D9P8.1 GenPept UniProtKB/Swiss-Prot:Q9D9P8

    Gene LinkOut

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