Format

Send to:

Choose Destination

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

Gene ID: 29969, updated on 8-Dec-2018

Summary

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
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
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

Genomic context

See MDFIC in Genome Data Viewer
Location:
7q31.1-q31.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (114922154..115019916)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (114562169..114659971)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene forkhead box P2 Neighboring gene VISTA enhancer hs966 Neighboring gene VISTA enhancer hs1192 Neighboring gene long intergenic non-protein coding RNA 1393 Neighboring gene long intergenic non-protein coding RNA 1392 Neighboring gene Rac family small GTPase 1 pseudogene 6

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.
NHGRI GWA Catalog

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Tat protein binding IDA
Inferred from Direct Assay
more info
PubMed 
cyclin 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 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of JUN kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein import into nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of viral transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of viral transcription IDA
Inferred from Direct Assay
more info
PubMed 
regulation of Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
myoD family inhibitor domain-containing protein
Names
I-mfa domain-containing protein

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.

Genomic

  1. NG_029463.1 RefSeqGene

    Range
    5001..102762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166345.1NP_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)
    AA406528, AC017003, AF054589
    Consensus CDS
    CCDS55155.1
    UniProtKB/Swiss-Prot
    Q9P1T7
    Related
    ENSP00000377126.1, ENST00000393486.5
    Conserved Domains (1) summary
    pfam15316
    Location:74246
    MDFI; MyoD family inhibitor
  2. NM_001166346.1NP_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_199072.4NP_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
    Consensus CDS
    CCDS34737.1
    UniProtKB/Swiss-Prot
    Q9P1T7
    UniProtKB/TrEMBL
    A0A087X231
    Related
    ENSP00000257724.3, ENST00000257724.7
    Conserved Domains (1) summary
    pfam15316
    Location:183355
    MDFI; MyoD family inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    114922154..115019916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center