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    MDFI MyoD family inhibitor [ Homo sapiens (human) ]

    Gene ID: 4188, updated on 3-Apr-2024

    Summary

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    Official Symbol
    MDFIprovided by HGNC
    Official Full Name
    MyoD family inhibitorprovided by HGNC
    Primary source
    HGNC:HGNC:6967
    See related
    Ensembl:ENSG00000112559 MIM:604971; AllianceGenome:HGNC:6967
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    I-MF; I-mfa
    Summary
    This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in fat (RPKM 11.0), placenta (RPKM 3.0) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p21.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41637018..41654244)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41466001..41482783)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41604756..41621982)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancers GRCh37_chr6:41499390-41499960 and GRCh37_chr6:41499961-41500529 Neighboring gene FOXP4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 11601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24511 Neighboring gene Sharpr-MPRA regulatory region 4049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17186 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:41522869-41523869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41527759-41528701 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41529644-41530586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41530587-41531527 Neighboring gene forkhead box P4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41536528-41537428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41537429-41538327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41546115-41546738 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:41546739-41547361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41549275-41549776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41551423-41552002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41552003-41552582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41552583-41553162 Neighboring gene VISTA enhancer hs1100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41565978-41566562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41566563-41567146 Neighboring gene Sharpr-MPRA regulatory region 5412 Neighboring gene microRNA 4641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41601984-41602484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41602485-41602985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41608279-41608859 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:41612529-41613514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41614501-41615485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41625153-41625767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41641529-41642028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41642607-41643108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41644810-41645324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41645325-41645838 Neighboring gene nucleophosmin 1 pseudogene 51 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41649993-41650819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41650820-41651645 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41655149-41656015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41658364-41658864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41673380-41673880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41673881-41674381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24518 Neighboring gene transcription factor EB Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41680541-41681266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41681267-41681990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41690842-41691384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41700542-41701238 Neighboring gene microRNA 10398

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Multifaceted array-based keloidal gene expression profiling reveals specific MDFI upregulation in keloid lesions. Asai M, et al. Clin Exp Dermatol, 2021 Oct. PMID 33899950
    2. I-mfa domain proteins specifically interact with SERTA domain proteins and repress their transactivating functions. Kusano S, et al. Biochimie, 2011 Sep. PMID 21664411
    3. The gene encoding I-mf (Mdfi) maps to human chromosome 6p21 and mouse chromosome 17. Kraut N. Mamm Genome, 1997 Aug. PMID 9250874
    4. Opposite Roles of the JMJD1A Interaction Partners MDFI and MDFIC in Colorectal Cancer. Sui Y, et al. Sci Rep, 2020 May 26. PMID 32457453, Free PMC Article
    5. DNA methylation of CMTM3, SSTR2, and MDFI genes in colorectal cancer. Li J, et al. Gene, 2017 Sep 30. PMID 28782576

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway.
      Title: MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway.
    2. Multifaceted array-based keloidal gene expression profiling reveals specific MDFI upregulation in keloid lesions.
      Title: Multifaceted array-based keloidal gene expression profiling reveals specific MDFI upregulation in keloid lesions.
    3. Opposite Roles of the JMJD1A Interaction Partners MDFI and MDFIC in Colorectal Cancer.
      Title: Opposite Roles of the JMJD1A Interaction Partners MDFI and MDFIC in Colorectal Cancer.
    4. MDFI was significantly hypermethylated in colorectal cancer tissues when compared with adjacent normal colorectal tissues.
      Title: DNA methylation of CMTM3, SSTR2, and MDFI genes in colorectal cancer.
    5. I-mfa domain proteins may be involved in their oncogenic functions by negatively regulating their transcriptional activities.
      Title: I-mfa domain proteins specifically interact with SERTA domain proteins and repress their transactivating functions.
    6. I-mfa functions as a molecular switch to suppress the store dependence of TRPC1
      Title: Inhibitor of myogenic family, a novel suppressor of store-operated currents through an interaction with TRPC1.
    7. These results suggest that the physical and functional interaction between Zic and I-mfa proteins can play a role in the vertebrate development.
      Title: Myogenic repressor I-mfa interferes with the function of Zic family proteins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat 47-59 peptide downregulates gene expression of MyoD family inhibitor (MDFI) in U-937 macrophages PubMed
    tat The cysteine-rich region (residues 21-37) of Tat is essential for direct interaction with HIC or I-MFA PubMed
    tat I-mfa (inhibitor of MyoD family a) and HIC (human I-mfa-domain-containing) proteins serve as substrates for P-TEFb. Their I-mfa domains bind the activation domain of HIV-1 Tat and inhibit Tat- and P-TEFb-dependent HIV-1 transcription PubMed

    Go to the HIV-1, Human Interaction Database

    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 GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription regulator inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoplasmic sequestering of transcription factor TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in dorsal/ventral axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in trophoblast giant cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    myoD family inhibitor
    Names
    inhibitor of MyoD family a
    myogenic repressor I-mf

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001300804.2 → NP_001287733.1  myoD family inhibitor isoform 1

      See identical proteins and their annotated locations for NP_001287733.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 3, and 4 encode the same isoform (1).
      Source sequence(s)
      AL035588, BC007836, BX397111, CA487393
      Consensus CDS
      CCDS4857.1
      UniProtKB/Swiss-Prot
      Q99750
      UniProtKB/TrEMBL
      A8K3X0
      Related
      ENSP00000393881.1, ENST00000419164.6
      Conserved Domains (2) summary
      pfam15316
      Location:91 → 246
      MDFI; MyoD family inhibitor
      cl27975
      Location:7 → 125
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    2. NM_001300805.2 → NP_001287734.1  myoD family inhibitor isoform 2

      See identical proteins and their annotated locations for NP_001287734.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. It encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      BC007836, BI824391, HY007825
      Consensus CDS
      CCDS75451.1
      UniProtKB/TrEMBL
      B1AKB6
      Related
      ENSP00000362141.4, ENST00000373050.8
      Conserved Domains (1) summary
      pfam15316
      Location:27 → 185
      MDFI; MyoD family inhibitor

    3. NM_001300806.2 → NP_001287735.1  myoD family inhibitor isoform 1

      See identical proteins and their annotated locations for NP_001287735.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. It encodes the longer isoform (1). Variants 1, 3, and 4 encode the same isoform (1).
      Source sequence(s)
      BC007836, BJ989485
      Consensus CDS
      CCDS4857.1
      UniProtKB/Swiss-Prot
      Q99750
      UniProtKB/TrEMBL
      A8K3X0
      Related
      ENSP00000413226.1, ENST00000432027.5
      Conserved Domains (2) summary
      pfam15316
      Location:91 → 246
      MDFI; MyoD family inhibitor
      cl27975
      Location:7 → 125
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    4. NM_005586.4 → NP_005577.1  myoD family inhibitor isoform 1

      See identical proteins and their annotated locations for NP_005577.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. It encodes the longer isoform (1). Variants 1, 3, and 4 encode the same isoform (1).
      Source sequence(s)
      BC007836, CA393148
      Consensus CDS
      CCDS4857.1
      UniProtKB/Swiss-Prot
      Q99750
      UniProtKB/TrEMBL
      A8K3X0
      Related
      ENSP00000230321.6, ENST00000230321.11
      Conserved Domains (2) summary
      pfam15316
      Location:91 → 246
      MDFI; MyoD family inhibitor
      cl27975
      Location:7 → 125
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      41637018..41654244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418777.1 → XP_047274733.1  myoD family inhibitor isoform X1

      UniProtKB/Swiss-Prot
      Q99750

    2. XM_047418779.1 → XP_047274735.1  myoD family inhibitor isoform X2

    3. XM_011514625.3 → XP_011512927.1  myoD family inhibitor isoform X2

      See identical proteins and their annotated locations for XP_011512927.1

      UniProtKB/TrEMBL
      A8K3X0
      Conserved Domains (1) summary
      pfam15316
      Location:71 → 229
      MDFI; MyoD family inhibitor

    4. XM_011514626.3 → XP_011512928.1  myoD family inhibitor isoform X4

      See identical proteins and their annotated locations for XP_011512928.1

      UniProtKB/TrEMBL
      B1AKB6
      Conserved Domains (1) summary
      pfam15316
      Location:27 → 185
      MDFI; MyoD family inhibitor

    5. XM_047418780.1 → XP_047274736.1  myoD family inhibitor isoform X2

    6. XM_047418778.1 → XP_047274734.1  myoD family inhibitor isoform X1

      UniProtKB/Swiss-Prot
      Q99750

    7. XM_005249117.4 → XP_005249174.1  myoD family inhibitor isoform X2

      See identical proteins and their annotated locations for XP_005249174.1

      UniProtKB/TrEMBL
      A8K3X0
      Conserved Domains (1) summary
      pfam15316
      Location:71 → 229
      MDFI; MyoD family inhibitor

    8. XM_047418781.1 → XP_047274737.1  myoD family inhibitor isoform X3

    9. XM_017010867.2 → XP_016866356.1  myoD family inhibitor isoform X3

      Conserved Domains (1) summary
      pfam15316
      Location:28 → 186
      MDFI; MyoD family inhibitor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      41466001..41482783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355445.1 → XP_054211420.1  myoD family inhibitor isoform X2

    2. XM_054355450.1 → XP_054211425.1  myoD family inhibitor isoform X4

      UniProtKB/TrEMBL
      B1AKB6

    3. XM_054355447.1 → XP_054211422.1  myoD family inhibitor isoform X2

    4. XM_054355444.1 → XP_054211419.1  myoD family inhibitor isoform X1

      UniProtKB/Swiss-Prot
      Q99750

    5. XM_054355446.1 → XP_054211421.1  myoD family inhibitor isoform X2

    6. XM_054355449.1 → XP_054211424.1  myoD family inhibitor isoform X3

    7. XM_054355448.1 → XP_054211423.1  myoD family inhibitor isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99750.1 GenPept UniProtKB/Swiss-Prot:Q99750

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