MN1 Gene (Protein Coding)

MN1 Proto-Oncogene, Transcriptional Regulator

GC22M027748
GIFtS:
43
Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008] See more...

Aliases for MN1 Gene

Aliases for MN1 Gene

  • MN1 Proto-Oncogene, Transcriptional Regulator 2 3 5
  • Probable Tumor Suppressor Protein MN1 2 3 4
  • Meningioma (Disrupted In Balanced Translocation) 1 2 3
  • Transcriptional Activator MN1 3 4
  • MGCR1-PEN 2 3
  • MGCR1 2 3
  • Meningioma (Translocation Balanced) 3
  • Meningioma Chromosome Region 1 3
  • Meningioma Chromosome Region 2
  • DJ353E16.2 3
  • CEBALID 3
  • MGCR 3
  • MN1 5

External Ids for MN1 Gene

Previous HGNC Symbols for MN1 Gene

  • MGCR

Previous GeneCards Identifiers for MN1 Gene

  • GC22M024840
  • GC22M026468
  • GC22M028144
  • GC22M011108

Summaries for MN1 Gene

Entrez Gene Summary for MN1 Gene

  • Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]

CIViC Summary for MN1 Gene

GeneCards Summary for MN1 Gene

MN1 (MN1 Proto-Oncogene, Transcriptional Regulator) is a Protein Coding gene. Diseases associated with MN1 include Cebalid Syndrome and Meningioma, Familial.

UniProtKB/Swiss-Prot Summary for MN1 Gene

  • Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable).

Gene Wiki entry for MN1 Gene

Additional gene information for MN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MN1 Gene

Genomics for MN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MN1

Top Transcription factor binding sites by QIAGEN in the MN1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • Meis-1
  • Pax-5
  • Roaz
  • RP58
  • SEF-1 (1)

Genomic Locations for MN1 Gene

Latest Assembly
chr22:27,748,277-27,801,756
(GRCh38/hg38)
Size:
53,480 bases
Orientation:
Minus strand

Previous Assembly
chr22:28,144,265-28,197,744
(GRCh37/hg19 by Entrez Gene)
Size:
53,480 bases
Orientation:
Minus strand

chr22:28,144,265-28,197,486
(GRCh37/hg19 by Ensembl)
Size:
53,222 bases
Orientation:
Minus strand

Genomic View for MN1 Gene

Genes around MN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MN1 Gene

Proteins for MN1 Gene

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  3. Assay products for research

  • Protein details for MN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10571-MN1_HUMAN
    Recommended name:
    Transcriptional activator MN1
    Protein Accession:
    Q10571
    Secondary Accessions:
    • A9Z1V9

    Protein attributes for MN1 Gene

    Size:
    1320 amino acids
    Molecular mass:
    136001 Da
    Quaternary structure:
    • Interacts with PBX1, PKNOX1, ZBTB24, E2F7, RING1.

neXtProt entry for MN1 Gene

Protein Expression for MN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for MN1
  • Boster Bio Antibodies for MN1

No data available for DME Specific Peptides for MN1 Gene

Domains & Families for MN1 Gene

Gene Families for MN1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MN1 Gene

GenScript: Design optimal peptide antigens:
  • Meningioma (Disrupted in balanced translocation) 1 (A5HML1_HUMAN)
  • Probable tumor suppressor protein MN1 (MN1_HUMAN)
genes like me logo Genes that share domains with MN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MN1 Gene

Function for MN1 Gene

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  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for MN1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable).

Phenotypes From GWAS Catalog for MN1 Gene

Gene Ontology (GO) - Molecular Function for MN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 31839203
genes like me logo Genes that share ontologies with MN1: view
genes like me logo Genes that share phenotypes with MN1: view

Human Phenotype Ontology for MN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MN1 Gene

MGI Knock Outs for MN1:
  • Mn1 Mn1<tm1Ecz>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MN1 Gene

Localization for MN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MN1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MN1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 31839203
genes like me logo Genes that share ontologies with MN1: view

Pathways & Interactions for MN1 Gene

PathCards logo

SuperPathways for MN1 Gene

No Data Available

SIGNOR curated interactions for MN1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001957 intramembranous ossification IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0033689 negative regulation of osteoblast proliferation IDA 15890672
GO:0070564 positive regulation of vitamin D receptor signaling pathway IDA 15890672
genes like me logo Genes that share ontologies with MN1: view

No data available for Pathways by source for MN1 Gene

Drugs & Compounds for MN1 Gene

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  1. Drug products for research

(1) Additional Compounds for MN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MN1: view

Transcripts for MN1 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for MN1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MN1

Alternative Splicing Database (ASD) splice patterns (SP) for MN1 Gene

No ASD Table

Relevant External Links for MN1 Gene

GeneLoc Exon Structure for
MN1

Expression for MN1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MN1 Gene

mRNA expression in normal human tissues for MN1 Gene
mRNA expression by BioGPS for MN1 GenemRNA expression by GTEx for MN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MN1 Gene

This gene is overexpressed in Muscle - Skeletal (x8.8) and Artery - Tibial (x4.4).

Protein differential expression in normal tissues from HIPED for MN1 Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MN1 Gene



Protein tissue co-expression partners for MN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MN1

SOURCE GeneReport for Unigene cluster for MN1 Gene:

Hs.268515

mRNA Expression by UniProt/SwissProt for MN1 Gene:

Q10571-MN1_HUMAN
Tissue specificity: Widely expressed in fetal and adult tissues. Highest expression is observed in fetal brain and skeletal muscle, and adult skeletal muscle.

Evidence on tissue expression from TISSUES for MN1 Gene

  • Nervous system(4.8)
  • Muscle(3)
  • Skin(2.4)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MN1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Regions:
Head and neck:
  • head
  • meninges
genes like me logo Genes that share expression patterns with MN1: view

Primer products for research

Orthologs for MN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MN1 30
  • 98.78 (n)
Dog
(Canis familiaris)
 Mammalia MN1 30 31
  • 90.24 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MN1 30 31
  • 89.06 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mn1 30 17 31
  • 85.3 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mn1 30
  • 85.13 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MN1 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MN1 31
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mn1.1 30
  • 63.35 (n)
Zebrafish
(Danio rerio)
 Actinopterygii mn1b 30 31
  • 61.16 (n)
 OneToMany
mn1a 31
  • 44 (a)
 OneToMany
Species where no ortholog for MN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MN1 Gene

ENSEMBL:
Gene Tree for MN1 (if available)
TreeFam:
Gene Tree for MN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MN1: view image

Paralogs for MN1 Gene

No data available for Paralogs for MN1 Gene

Variants for MN1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MN1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
978210 Pathogenic: CEBALID syndrome; not provided 27,799,129(-) G/T
NM_002430.3(MN1):c.1415C>A (p.Ser472Ter) 		NONSENSE
978211 Pathogenic: MN1 C-terminal truncation (MCTT) syndrome; CEBALID syndrome 27,796,766(-) C/A
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter) 		NONSENSE
979061 Likely Pathogenic: MN1 C-terminal truncation (MCTT) syndrome 27,796,813(-) G/GGTCTT
NM_002430.3(MN1):c.3730_3731insAAGAC (p.Thr1244fs) 		FRAMESHIFT
979062 Likely Pathogenic: MN1 C-terminal truncation (MCTT) syndrome 27,751,028(-) GG/T
NM_002430.3(MN1):c.3849_3850delinsA (p.His1284fs) 		FRAMESHIFT
979063 Likely Pathogenic: MN1 C-terminal truncation (MCTT) syndrome 27,750,983(-) G/GCA
NM_002430.3(MN1):c.3893_3894dup (p.Pro1299fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MN1 Gene

Variant ID Type Subtype PubMed ID
dgv1312e212 CNV loss 25503493
esv2056669 CNV deletion 18987734
esv2210205 CNV deletion 18987734
esv2675305 CNV deletion 23128226
esv2724116 CNV deletion 23290073
esv3647497 CNV loss 21293372
nsv1071786 CNV deletion 25765185
nsv518700 CNV gain 19592680
nsv588872 CNV gain 21841781
nsv829144 CNV gain 20364138
nsv829145 CNV gain 20364138
nsv829146 CNV gain 20364138

Variation tolerance for MN1 Gene

Residual Variation Intolerance Score: 3.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.00; 74.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MN1 Gene

Human Gene Mutation Database (HGMD)
MN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MN1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MN1 Gene

Disorders for MN1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for MN1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
cebalid syndrome
  • cebalid
meningioma, familial
  • meningioma, familial, susceptibility to
mn1 c-terminal truncation syndrome
  • cebalid
chordoma
  • chordoma, susceptibility to
rhombencephalosynapsis
- elite association - COSMIC cancer census association via MalaCards
Search MN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MN1_HUMAN
  • CEBALID syndrome (CEBALID) [MIM:618774]: An autosomal dominant developmental disorder characterized by global developmental delay, intellectual disability with severe expressive language delay, craniofacial dysmorphism, and structural brain abnormalities. Most patients have an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Other frequent features include perisylvian polymicrogyria, abnormal posterior clinoid processes, cerebellar hypoplasia or dysplasia, and persistent trigeminal artery. {ECO:0000269 PubMed:31834374, ECO:0000269 PubMed:31839203}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving MN1 may be a cause of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with ETV6. {ECO:0000269 PubMed:7731705}.
  • Note=Defects in MN1 involved in the development of meningiomas, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. {ECO:0000269 PubMed:7731706}.

Additional Disease Information for MN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MN1: view

No data available for Genatlas for MN1 Gene

Publications for MN1 Gene

  1. Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. (PMID: 7731706) Lekanne Deprez RH … Kley NA (Oncogene 1995) 2 3 4 23
  2. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. (PMID: 31834374) Mak CCY … Gordon CT (Brain : a journal of neurology 2020) 3 4 74
  3. Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11. (PMID: 7731705) Buijs A … Hagemeijer A (Oncogene 1995) 3 4 23
  4. Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. (PMID: 31839203) Miyake N … Matsumoto N (American journal of human genetics 2020) 3 4
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41

ExternalLinks

View latest publications for MN1 gene in Mastermind

Products for MN1 Gene

  • Boster Bio Antibodies for MN1
  • Boster Bio ELISA Kits for MN1

Sources for MN1 Gene