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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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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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