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MDFIC MyoD family inhibitor domain containing [ Homo sapiens (human) ]

Gene ID: 29969, updated on 2-Nov-2024

Summary

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Official Symbol
MDFICprovided by HGNC
Official Full Name
MyoD family inhibitor domain containingprovided by HGNC
Primary source
HGNC:HGNC:28870
See related
Ensembl:ENSG00000135272 MIM:614511; AllianceGenome:HGNC:28870
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
HIC; MDFIC1; LMPHM12
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, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in fat (RPKM 25.2), spleen (RPKM 14.3) and 23 other tissues See more
Orthologs
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Genomic context

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See MDFIC in Genome Data Viewer
Location:
7q31.1-q31.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (114922094..115019917)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (116236858..116334721)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (114562149..114659971)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene forkhead box P2 Neighboring gene VISTA enhancer hs1080 Neighboring gene VISTA enhancer hs222 Neighboring gene RNA, 5S ribosomal pseudogene 238 Neighboring gene VISTA enhancer hs956 Neighboring gene VISTA enhancer hs966 Neighboring gene microRNA 3666 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:114373209-114373709 Neighboring gene VISTA enhancer hs1192 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:114465341-114466180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18549 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:114570117-114570666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:114670265-114670880 Neighboring gene long intergenic non-protein coding RNA 1393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26525 Neighboring gene long intergenic non-protein coding RNA 1392 Neighboring gene Rac family small GTPase 1 pseudogene 6

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 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. HIC gene, a candidate suppressor gene within a minimal region of loss at 7q31.1 in myeloid neoplasms. Cigognini D, et al. Leuk Res, 2007 Apr. PMID 17064770
  2. The 3'UTR of HIC mRNA improves the production of recombinant proteins in Chinese hamster ovary cells. Liu J, et al. J Biotechnol, 2009 Jan 15. PMID 19041912
  3. Expression profile and differential regulation of the Human I-mfa domain-Containing protein (HIC) gene in immune cells. Gu L, et al. Immunol Lett, 2009 Apr 27. PMID 19428567
  4. The complex regulation of HIC (Human I-mfa domain containing protein) expression. Reiss-Sklan E, et al. PLoS One, 2009 Jul 7. PMID 19582149, Free PMC Article
  5. Human I-mfa domain proteins specifically interact with KSHV LANA and affect its regulation of Wnt signaling-dependent transcription. Kusano S, et al. Biochem Biophys Res Commun, 2010 Jun 4. PMID 20417616

See all (27) 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.
  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. GR directly represses the MDFIC gene, revealing a negative feedback loop by which glucocorticoids limit MDFIC activity. These findings identify a new binding partner for cytoplasmic GR that modulates the receptor transcriptome and contributes to the tissue-specific actions of glucocorticoids.
    Title: Cross-talk between the glucocorticoid receptor and MyoD family inhibitor domain-containing protein provides a new mechanism for generating tissue-specific responses to glucocorticoids.
  5. HIC specifically interacts with HTLV-1 Tax and negatively regulates Tax transactivational activity by altering its subcellular distribution and stability.
    Title: I-mfa domain proteins specifically interact with HTLV-1 Tax and repress its transactivating functions.
  6. We demonstrate that HIC selectively interferes with Rev NLS interaction with importin beta and impedes its nuclear import and function, but does not affect Rev nuclear import mediated by transportin.
    Title: Intermolecular masking of the HIV-1 Rev NLS by the cellular protein HIC: novel insights into the regulation of Rev nuclear import.
  7. These data reveal for the first time that I-mfa domain proteins interact with LANA and negatively regulate LANA-mediated activation of Wnt signaling-dependent transcription by inhibiting the formation of the LANA.GSK-3beta complex.
    Title: Human I-mfa domain proteins specifically interact with KSHV LANA and affect its regulation of Wnt signaling-dependent transcription.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. strict regulation of HIC expression at the levels of mRNA stability, translation efficiency and protein stability suggests that expression of the HIC protein and its involvement in the various pathways is required only under specific cellular conditions
    Title: The complex regulation of HIC (Human I-mfa domain containing protein) expression.
  10. This study describes that the immune expression of HIC is cell-specific, dynamic, and identifies the HIC gene as an IL-2 responsive gene.
    Title: Expression profile and differential regulation of the Human I-mfa domain-Containing protein (HIC) gene in immune cells.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

Description Tests
Lymphatic malformation 12
MedGen: C5774203 OMIM: 620014 GeneReviews: Not available
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EBI GWAS Catalog

Description
Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.
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
Rev rev Downregulation of HIV-1 Rev activity by HIC is dependent on the I-mfa domain in a cell-specific manner PubMed
rev HIV-1 Rev nuclear import mediated by importin beta is selectively inhibited by competitive excess of HIC in a cell-specific fashion PubMed
rev HIV-1 Rev and HIC interact directly and form a complex through the I-mfa domain (residues 144-246) of HIC PubMed
Tat 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
tat HIC binds both HIV-1 Tat and cyclin T1 through its I-mfa domain (amino acids 165-246) and modulates Tat transactivation of the HIV-1 LTR promoter PubMed
tat HIC binds the NLS domain of HIV-1 Tat located between amino acid residues 48 and 60 of Tat PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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 DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables Tat protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables cyclin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of protein import into nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of viral transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of JNK cascade IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of JNK cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of Wnt signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
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 extracellular region IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IEA
Inferred from Electronic Annotation
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 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

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.

Genomic

  1. NG_029463.2 RefSeqGene

    Range
    5002..102825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166345.3 → NP_001159817.1  myoD family inhibitor domain-containing protein isoform p32

    See identical proteins and their annotated locations for NP_001159817.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. It encodes isoform p32 via the use of a downstream AUG translation initiation codon.
    Source sequence(s)
    AC017003
    Consensus CDS
    CCDS55155.1
    UniProtKB/Swiss-Prot
    Q9P1T6, Q9P1T7
    Related
    ENSP00000377126.1, ENST00000393486.6
    Conserved Domains (1) summary
    pfam15316
    Location:74 → 246
    MDFI; MyoD family inhibitor

  2. NM_001166346.1 → NP_001159818.3  myoD family inhibitor domain-containing protein isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform p40.
    Source sequence(s)
    AF054589, CB048531

  3. NM_199072.5 → NP_951038.1  myoD family inhibitor domain-containing protein isoform p40

    See identical proteins and their annotated locations for NP_951038.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. It encodes the longest isoform (p40) via the use of an upstream non-AUG (GUG) translation initiation codon.
    Source sequence(s)
    AA406528, AC017003, AF054589
    UniProtKB/Swiss-Prot
    Q9P1T7
    UniProtKB/TrEMBL
    A0A087X231
    Conserved Domains (1) summary
    pfam15316
    Location:183 → 355
    MDFI; MyoD family inhibitor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    114922094..115019917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    116236858..116334721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P1T7.2 GenPept UniProtKB/Swiss-Prot:Q9P1T7

Gene LinkOut

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

Chemical Information
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