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MDFI MyoD family inhibitor [ Homo sapiens (human) ]

Gene ID: 4188, updated on 15-Jun-2019

Summary

Official Symbol
MDFIprovided by HGNC
Official Full Name
MyoD family inhibitorprovided by HGNC
Primary source
HGNC:HGNC:6967
See related
Ensembl:ENSG00000112559 MIM:604971
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

Genomic context

See MDFI in Genome Data Viewer
Location:
6p21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (41637020..41654246)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41606194..41621984)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene forkhead box P4 Neighboring gene VISTA enhancer hs1100 Neighboring gene microRNA 4641 Neighboring gene nucleophosmin 1 pseudogene 51 Neighboring gene transcription factor EB

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001300804.2NP_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
    A0A024RCY2
    Related
    ENSP00000393881.1, ENST00000419164.6
    Conserved Domains (2) summary
    pfam15316
    Location:91246
    MDFI; MyoD family inhibitor
    cl27975
    Location:7125
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
  2. NM_001300805.2NP_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/Swiss-Prot
    Q99750
    UniProtKB/TrEMBL
    B1AKB6
    Related
    ENSP00000362141.4, ENST00000373050.8
    Conserved Domains (1) summary
    pfam15316
    Location:27185
    MDFI; MyoD family inhibitor
  3. NM_001300806.2NP_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
    A0A024RCY2
    Related
    ENSP00000413226.1, ENST00000432027.5
    Conserved Domains (2) summary
    pfam15316
    Location:91246
    MDFI; MyoD family inhibitor
    cl27975
    Location:7125
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
  4. NM_005586.4NP_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
    A0A024RCY2
    Related
    ENSP00000230321.6, ENST00000230321.10
    Conserved Domains (2) summary
    pfam15316
    Location:91246
    MDFI; MyoD family inhibitor
    cl27975
    Location:7125
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    41637018..41654246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514626.2XP_011512928.1  myoD family inhibitor isoform X3

    See identical proteins and their annotated locations for XP_011512928.1

    UniProtKB/TrEMBL
    B1AKB6
    Conserved Domains (1) summary
    pfam15316
    Location:27185
    MDFI; MyoD family inhibitor
  2. XM_011514625.2XP_011512927.1  myoD family inhibitor isoform X1

    See identical proteins and their annotated locations for XP_011512927.1

    Conserved Domains (1) summary
    pfam15316
    Location:71229
    MDFI; MyoD family inhibitor
  3. XM_005249117.3XP_005249174.1  myoD family inhibitor isoform X1

    See identical proteins and their annotated locations for XP_005249174.1

    Conserved Domains (1) summary
    pfam15316
    Location:71229
    MDFI; MyoD family inhibitor
  4. XM_017010867.1XP_016866356.1  myoD family inhibitor isoform X2

    Conserved Domains (1) summary
    pfam15316
    Location:28186
    MDFI; MyoD family inhibitor
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