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    Mdfic MyoD family inhibitor domain containing [ Mus musculus (house mouse) ]

    Gene ID: 16543, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Mdficprovided by MGI
    Official Full Name
    MyoD family inhibitor domain containingprovided by MGI
    Primary source
    MGI:MGI:104611
    See related
    Ensembl:ENSMUSG00000041390 AllianceGenome:MGI:104611
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Kdt1; Mdfid
    Summary
    This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, which in human have been shown to have different subcellular localization. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in ovary adult (RPKM 10.4), bladder adult (RPKM 8.0) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 A1; 6 6.85 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (15720660..15802168)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (15720566..15802169)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_15222 Neighboring gene forkhead box P2 Neighboring gene ribosomal protein L13 pseudogene Neighboring gene STARR-seq mESC enhancer starr_15223 Neighboring gene STARR-seq mESC enhancer starr_15224 Neighboring gene STARR-seq mESC enhancer starr_15225 Neighboring gene STARR-positive B cell enhancer ABC_E6416 Neighboring gene predicted gene, 36352 Neighboring gene STARR-seq mESC enhancer starr_15233 Neighboring gene STARR-positive B cell enhancer mm9_chr6:15740163-15740464 Neighboring gene STARR-positive B cell enhancer ABC_E9661 Neighboring gene STARR-seq mESC enhancer starr_15234 Neighboring gene STARR-positive B cell enhancer ABC_E1700 Neighboring gene STARR-seq mESC enhancer starr_15236 Neighboring gene STARR-seq mESC enhancer starr_15237 Neighboring gene STARR-seq mESC enhancer starr_15238 Neighboring gene STARR-seq mESC enhancer starr_15239 Neighboring gene STARR-seq mESC enhancer starr_15240 Neighboring gene high mobility group box 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_15241 Neighboring gene STARR-seq mESC enhancer starr_15242 Neighboring gene predicted gene, 36406

    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. Tissue-specific expression of novel messenger ribonucleic acids cloned from a renin-expressing kidney tumor cell line (As4.1). Thompson HA, et al. Endocrinology, 1995 Jul. PMID 7789330
    2. Molecular cloning of a novel human I-mfa domain-containing protein that differently regulates human T-cell leukemia virus type I and HIV-1 expression. Thébault S, et al. J Biol Chem, 2000 Feb 18. PMID 10671520
    3. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Byrne AB, et al. Sci Transl Med, 2022 Mar 2. PMID 35235341
    4. Nucleolar release of Hand1 acts as a molecular switch to determine cell fate. Martindill DM, et al. Nat Cell Biol, 2007 Oct. PMID 17891141
    5. Myogenic repressor I-mfa interferes with the function of Zic family proteins. Mizugishi K, et al. Biochem Biophys Res Commun, 2004 Jul 16. PMID 15207726

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels.
      Title: MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels.
    2. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
      Title: Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables Tat protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cyclin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of viral transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of viral transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of JNK cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myoD family inhibitor domain-containing protein
    Names
    I-mfa domain-containing protein
    kidney cell line-derived transcript 1

    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_175088.5 → NP_780297.3  myoD family inhibitor domain-containing protein

      See identical proteins and their annotated locations for NP_780297.3

      Status: REVIEWED

      Source sequence(s)
      AK087298, AK165016, BB603899, BG083307, BY509244, CO043232
      Consensus CDS
      CCDS19919.1
      UniProtKB/Swiss-Prot
      Q3T9H3, Q6NXM1, Q8BJS3, Q8BX65
      Related
      ENSMUSP00000140208.2, ENSMUST00000189359.7
      Conserved Domains (1) summary
      pfam15316
      Location:74 → 247
      MDFI; MyoD family inhibitor

    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
      15720660..15802168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036165885.1 → XP_036021778.1  myoD family inhibitor domain-containing protein isoform X1

      Conserved Domains (1) summary
      pfam15316
      Location:19 → 192
      MDFI; MyoD family inhibitor
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BX65.1 GenPept UniProtKB/Swiss-Prot:Q8BX65

    Gene LinkOut

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

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