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MDFIC - MyoD family inhibitor domain containing Gene

Also Known as HIC; MDFIC1; LMPHM12

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29969

About MDFIC

Cytogenetic location: 7q31.1-q31.2 Genomic coordinates (GRCh38): 7:114,922,094-115,019,917 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 25.2), spleen (RPKM 14.3) and 23 other tissues.

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]

MDFIC Products (3)

mRNA	Protein	Name
NM_001166345.3	NP_001159817.1	myoD family inhibitor domain-containing protein isoform p32
NM_001166346.1	NP_001159818.3	myoD family inhibitor domain-containing protein isoform c
NM_199072.5	NP_951038.1	myoD family inhibitor domain-containing protein isoform p40

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	12192039	GOA
enables Tat protein binding	IDA IDA: Inferred from direct assay	12944466	GOA
enables cyclin binding	IPI IPI: Inferred from physical interaction	12944466	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12192039	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12944466	GOA
involved in positive regulation of viral transcription	IDA IDA: Inferred from direct assay	10671520	GOA
involved in regulation of JNK cascade	IDA IDA: Inferred from direct assay	12192039	GOA
involved in regulation of Wnt signaling pathway	IDA IDA: Inferred from direct assay	12192039	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10671520	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	10671520	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10671520	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MDFIC Protein Structure

MDFI

0
100
200
246 a.a.

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

Related Diseases

Diseases	Alias
Lymphatic Malformation 12	Central Conducting Lymphatic Anomaly LMPHM12 Ccla Lymphatic Malformation-7 Doid:0081030
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	HH16 Hypogonadism, Hypogonadotropic, Type 16 With/Without Anosmia
Epiglottitis	Acute Epiglottitis Acute Epiglottitis And Supraglottitis Acute Epiglottiditis Epiglottiditis Epiglottitis Nos
Cleft Palate, Cardiac Defects, And Mental Retardation	Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies CPCMR Cleft Palate, Cardiac Defects, And Intellectual Disabillity Cleft Palate, Cardiac Defects, And Intellectual Disability Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
T-Cell Acute Lymphoblastic Leukemia	T-Cell Leukemia Acute T Cell Leukemia Precursor T Lymphoblastic Leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia T Acute Lymphoblastic Leukemia T-Cell Acute Lymphocytic Leukaemia T-Cell Lymphoblastic Leukemia/Lymphoma Leukemia T-Cell Leukemia, T-Cell Leukemia, Acute, Lymphoblastic, T-Cell Leukemia, T-Cell Acute Lymphoblastic Leukemia, Acute T-Cell Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Precursor T-Cell Lymphoblastic Lymphoma Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma
Immune Deficiency Disease	Immunodeficiency Primary Immunodeficiency Primary Immunodeficiency Disease Immunologic Deficiency Syndromes Hypoimmunity Immune Deficiency Disorder Immunodeficiency Syndrome Immune Disorder Primary Immune Deficiency Disorder Immune System Diseases Human Immunodeficiency Virus Infection Hiv - [Human Immunodeficiency Virus Infection] Hiv Positive Nos Hiv Disease Acquired Immune Deficiency Syndrome-Related Complex Aids-Like Syndrome Aids-Related Complex Nos Arc - [Aids-Related Complex] Immunodeficiency Due To Human Immunodeficiency Virus Infection Unspecified Human Immunodeficiency Virus Disease Hiv Disease Nos Human Immunodeficiency Virus Positive Nos Hiv Nos Deficiency Of Complement Initial Pathway Deficiency Of Complement Terminal Pathway Cfdd - [Complement Factor D Deficiency] Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency Nonfamilial Hypogammaglobulinaemia Common Variable Immune Deficiency Nonfamilial Agammaglobulinaemia Common Variable Agammaglobulinaemia Agammaglobulinaemia Nos Agammaglobulinaemia Antibody Deficiency Syndrome Hypogammaglobulinaemia Antibody Deficiency Syndrome Acquired Agammaglobulinaemia Nos Hypogammaglobulinaemia Nos Hyper Igm
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08257	MDFIC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MDFIC	VGNC	VGNC:31330
Canis familiaris	MDFIC	VGNC	VGNC:43100
Mus musculus	MDFIC	MGD	MGI:104611
Felis catus	MDFIC	VGNC	VGNC:102635
Macaca mulatta	MDFIC	VGNC	VGNC:74608
Rattus norvegicus	MDFIC	RGD	RGD:1309532
Others	MDFIC	NCBI