MDFIC MyoD family inhibitor domain containing [Homo sapiens] - Gene

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Summary

Official Symbol: MDFICprovided by HGNC
Official Full Name: MyoD family inhibitor domain containingprovided by HGNC
Primary source: HGNC:28870
See related: Ensembl:ENSG00000135272; HPRD:17103; MIM:614511; Vega:OTTHUMG00000023647
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
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]

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Genomic context

Location :: 7q31.1-q31.2

Sequence :: Chromosome: 7; NC_000007.13 (114562209..114659970)

See MDFIC in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
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.
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.
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.
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.
Two isoforms, resulting from the use of a non-AUG (GUG) and a downstream in-frame AUG translation initiation codon, have different subcellular localization.
Title: Molecular cloning of a novel human I-mfa domain-containing protein that differently regulates human T-cell leukemia virus type I and HIV-1 expression.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:119002	BioGRID:107343	CCNT1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:119002	BioGRID:107459	CDK9	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:119002	BioGRID:119002	MDFIC	BioGRID	PubMed	Two-hybrid
BioGRID:119002	BioGRID:112761	TAT	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

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	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
interspecies interaction between organisms	IEA Inferred from Electronic Annotation more info
negative regulation of protein import into nucleus	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription, DNA-dependent	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
positive regulation of viral transcription	IDA Inferred from Direct Assay more info	PubMed
regulation of Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: myoD family inhibitor domain-containing protein

Names: myoD family inhibitor domain-containing protein; I-mfa domain-containing protein

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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

NG_029463.1 RefSeqGene

Range

5001..102762

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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, OTTHUMP00000025265, ENST00000393486, OTTHUMT00000059968
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
NM_199072.4 → NP_951038.1 myoD family inhibitor domain-containing protein isoform p40

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

Related

ENSP00000257724, OTTHUMP00000220850, ENST00000257724, OTTHUMT00000366397

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

114562209..114659970

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

108926620..109024416

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

113957476..114055279

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC017003.4 (12843..110464)	None
genomic	CH236947.1 (13431893..13528982)	None
genomic	CH471070.1	EAW83487.1
mRNA	AA406528.1	None
mRNA	AF054589.1	AAF36998.1
		AAF36999.1
mRNA	AI668639.1	None
mRNA	AY196485.1	AAP33842.1
mRNA	BC040713.1	None
mRNA	CB048531.1	None
other-genetic	BC156446.1	AAI56447.1