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    Ofcc1 orofacial cleft 1 candidate 1 [ Mus musculus (house mouse) ]

    Gene ID: 218165, updated on 12-May-2024

    Summary

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    Official Symbol
    Ofcc1provided by MGI
    Official Full Name
    orofacial cleft 1 candidate 1provided by MGI
    Primary source
    MGI:MGI:2658851
    See related
    Ensembl:ENSMUSG00000047094 AllianceGenome:MGI:2658851
    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
    opo
    Summary
    Located in several cellular components, including endoplasmic reticulum; microtubule cytoskeleton; and perinuclear region of cytoplasm. Is expressed in several structures, including branchial arch; embryo mesenchyme; musculoskeletal system; nervous system; and sensory organ. Orthologous to human OFCC1 (orofacial cleft 1 candidate 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Ofcc1 in Genome Data Viewer
    Location:
    13 A3.3; 13 19.45 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (40155358..40529793, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (40001882..40288011, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm1403 Neighboring gene predicted gene, 23972 Neighboring gene STARR-seq mESC enhancer starr_34267 Neighboring gene STARR-seq mESC enhancer starr_34268 Neighboring gene STARR-seq mESC enhancer starr_34269 Neighboring gene predicted gene, 40924 Neighboring gene STARR-seq mESC enhancer starr_34271 Neighboring gene predicted gene, 57604 Neighboring gene STARR-seq mESC enhancer starr_34272 Neighboring gene REX4, RNA exonuclease 4 homolog pseudogene Neighboring gene 40S ribosomal protein S10 pseudogene

    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. Ablation of Mrds1/Ofcc1 induces hyper-γ-glutamyl transpeptidasemia without abnormal head development and schizophrenia-relevant behaviors in mice. Ohnishi T, et al. PLoS One, 2011. PMID 22242126, Free PMC Article
    2. Cloning and transcriptional regulation of a novel adipocyte-specific gene, FSP27. CAAT-enhancer-binding protein (C/EBP) and C/EBP-like proteins interact with sequences required for differentiation-dependent expression. Danesch U, et al. J Biol Chem, 1992 Apr 5. PMID 1339452
    3. Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. Davies SJ, et al. Cytogenet Genome Res, 2004. PMID 15218257
    4. Cloning of mouse ojoplano, a reticular cytoplasmic protein expressed during embryonic development. Mertes F, et al. Gene Expr Patterns, 2009 Dec. PMID 19766735
    5. Fabp7 maps to a quantitative trait locus for a schizophrenia endophenotype. Watanabe A, et al. PLoS Biol, 2007 Nov. PMID 18001149, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disruption of the Mrds1/Ofcc1 gene elicits asymptomatic hyper-gamma-glutamyl-transpeptidasemia in mice.
      Title: Ablation of Mrds1/Ofcc1 induces hyper-γ-glutamyl transpeptidasemia without abnormal head development and schizophrenia-relevant behaviors in mice.
    2. Opo shows homology to human transcripts linked to a hereditary craniofacial malformation, orofacial cleft 1 (OFC1). The expression of mouse Opo in neural crest derivatives and skull elements further supports this link.
      Title: Cloning of mouse ojoplano, a reticular cytoplasmic protein expressed during embryonic development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    orofacial cleft 1 candidate gene 1 protein homolog
    Names
    ojoplano
    orofacial clefting chromosomal breakpoint region candidate 1 protein 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_172143.2 → NP_742155.2  orofacial cleft 1 candidate gene 1 protein homolog

      See identical proteins and their annotated locations for NP_742155.2

      Status: VALIDATED

      Source sequence(s)
      EU683438
      Consensus CDS
      CCDS49241.1
      UniProtKB/TrEMBL
      C3S7Q5
      Related
      ENSMUSP00000062217.8, ENSMUST00000054635.8
      Conserved Domains (1) summary
      pfam15680
      Location:5 → 113
      OFCC1; Orofacial cleft 1 candidate gene 1 protein

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      40155358..40529793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157987.1 → XP_036013880.1  orofacial cleft 1 candidate gene 1 protein homolog isoform X1

      UniProtKB/TrEMBL
      C3S7Q5
      Conserved Domains (1) summary
      pfam15680
      Location:5 → 113
      OFCC1; Orofacial cleft 1 candidate gene 1 protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGX4.1 GenPept UniProtKB/Swiss-Prot:Q8BGX4

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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