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FLASH GENE

Symbol

MN1

contributors: mct/npt - updated : 14-01-2020

HGNC name	meningioma (disrupted in balanced translocation) 1
HGNC id	7180

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DDDFD developmental delay, dolichocephaly, facial dysmorphism MN1 meningioma 1, familial
Location	22q12.1      Physical location : 28.144.265 - 28.197.486
Synonym name	meningioma chromosome region
	probable tumor suppressor protein MN1
	bK437G10B.1 (meningioma (disrupted in balanced translocation) 1)
Synonym symbol(s)	MGCR1, MGCR, MGCR1-PEN, dJ353E16.2

DNA

TYPE	functioning gene
STRUCTURE	53.48 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	a CACCC-containing sequence, located 140 bp upstream of the transcription start site of the promoter, is required for MN1 action (Meester-Smoor 2007)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002430 2 - 7814 NP_002421 136 1320 - 2017 27983532

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       highly Homo sapiens Fetal Respiratory lung       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Homo sapiens Adult Muscular striatum skeletal     Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal nuclear localization signal,
	proline-rich sequences,
	two polyglutamine stretches
	multiple transcription activating domains
	C-terminal region of MN1 is required for degradation through the ubiquitin-proteasome pathway

HOMOLOGY

interspecies

homolog to C.elegans F13D12.4

Homologene

FAMILY

CATEGORY

tumor suppressor

SUBCELLULAR LOCALIZATION

basic FUNCTION	may be playing a role in tumor suppression
	activates the transcription activity of the moloney sarcoma virus long terminal repeat, indicating that this protein itself may act as a transcription factor (Van Wely 2003)
	may stimulate RAR/RXR-mediated transcription through interaction with EP300 (Van Wely 2003)
	transcriptional co-activator and oncoprotein which activates transcription of the IGFBP5 promoter through a CACCC-rich consensus sequence (Meester-Smoor 2007)
	MN1 plays a critical role in human craniofacial and brain development
	MN1 plays a role in transcriptional regulation through interaction with the DNA-binding transcription factors PBX1 and PKNOX1

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

MN1 participates in transcriptional regulation of target genes through interaction with the transcription factors PBX1, PKNOX1, and ZBTB24

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MN1 , DDDFD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       MN1TEL, a leukemia-related fusion protein containing parts of the MN1 and TEL (ETV6) genes (Meester-Smoor 2007) tumoral     --over   in certain types of human acute myeloid leukemia (Grosveld 2007) tumoral     --other   aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia (Kuang 2008) tumoral     --over   contribute to poor colorectal cancer (CRC) prognosis constitutional     --over   induces proliferation and represses myeloid differentiation of primitive hematopoietic cells

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	can serve as a novel potential biomarker in predicting the prognosis of colorectal cancer (CRC) patients
Therapy target

ANIMAL & CELL MODELS