MEN1 multiple endocrine neoplasia I [Homo sapiens] - Gene

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Summary

Official Symbol: MEN1provided by HGNC
Official Full Name: multiple endocrine neoplasia Iprovided by HGNC
Primary source: HGNC:7010
See related: Ensembl:ENSG00000133895; HPRD:00564; MIM:613733; Vega:OTTHUMG00000045366
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: MEAI; SCG2
Summary: This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]

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Genomic context

Location :: 11q13

Sequence :: Chromosome: 11; NC_000011.9 (64570986..64578766, complement)

See MEN1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 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?

menin mutant exhibits selective loss of the TGF-beta signaling pathway and loss of cell proliferation control contributing to the development of MEN1.
Title: Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1).
Expression of p15, p18 and p27 was not generally related to the MEN1 gene mutational status of the investigated 18 pancreatic endocrine tumours.
Title: Evaluation of CDKN2C/p18, CDKN1B/p27 and CDKN2B/p15 mRNA expression, and CpG methylation status in sporadic and MEN1-associated pancreatic endocrine tumours.
Targeting specific components of the proteasome chaperone pathway could be beneficial in treating a subset of MEN1 cases.
Title: Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.
Study reports the coexistence of a germline intronic heterozygote variation at the MEN1 gene (IVS4?1G[T) and a germline mutation of exon 11 of RET proto-oncogene (K666M) in a large Italian family and describes clinical manifestations in the carriers.
Title: Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.
crystal structures of human menin in its free form and in complexes with MLL1 or with JUND, or with an MLL1-LEDGF heterodimer
Title: The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.
A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.
Title: A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.
Some missense and in-frame deletion mutants (G28A, R171W, T197I, E255K, E274A, Y353del and E366D) associated with FIHP or ASPT were almost as stable as or only slightly less stable than wild-type menin. Others were as unstable as those in typical MEN1.
Title: Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.
These results suggest that not only HRPT2 but also MEN1 mutations may play a role in sporadic parathyroid cancer formation.
Title: Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas.
High frequencies of MEN1 gene mutations were detected in Brazilian families with MEN1, including seven new genetic mutations that are predicted to cause inactivation of the MEN1 tumour suppressor gene.
Title: Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.
large family (three generations) with several members affected were evaluated for clinical and biochemical characteristic of MEN-1 syndrome
Title: A new frameshift MEN1 gene mutation associated with familial malignant insulinomas.

Submit: New GeneRIF Correction See all (125)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Endocrine adenomatosis, multiple

MIM: 131100

Products	Interactant	Other Gene	Source	Pubs	Description
NP_570711.1	NP_006707.1	DBF4	BIND	PubMed	Menin interacts with ASK.
NP_570711.1	NP_005345.2	JUND	BIND	PubMed	Menin directly represses JunD-activated transcription
NP_570711.1	NP_003371.1	VIM	BIND	PubMed	menin interacts with vimentin
O00255	Q9UBL3	ASH2L	HPRD	PubMed
O00255	Q9UBU7	DBF4	HPRD	PubMed
O00255	Q9BXW9	FANCD2	HPRD	PubMed
O00255	P14136	GFAP	HPRD	PubMed
O00255	P46940	IQGAP1	HPRD	PubMed
O00255	P17535	JUND	HPRD	PubMed
O00255	Q03164	MLL	HPRD	PubMed
O00255	O14686	MLL2	HPRD	PubMed
O00255	P35579	MYH9	HPRD	PubMed
O00255	P19838	NFKB1	HPRD	PubMed
O00255	Q00653	NFKB2	HPRD	PubMed
O00255	P30876	POLR2B	HPRD	PubMed
O00255	Q15291	RBBP5	HPRD	PubMed
O00255	Q04206	RELA	HPRD	PubMed
O00255	P15927	RPA2	HPRD	PubMed
O00255	Q15797	SMAD1	HPRD	PubMed
O00255	P84022	SMAD3	HPRD	PubMed
O00255	Q99717	SMAD5	HPRD	PubMed
O00255	P08670	VIM	HPRD	PubMed
BioGRID:110384	BioGRID:114528	ASH2L	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:107536	CHEK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:107880	CTNNB1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:119045	CXXC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:108403	ESR1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:110384	BioGRID:108474	FANCD2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:107537	FOXN3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:108938	GFAP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:109304	HCFC1	BioGRID	PubMed	Co-purification
BioGRID:110384	BioGRID:118959	HCFC2	BioGRID	PubMed	Co-purification
BioGRID:110384	BioGRID:109315	HDAC1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110384	BioGRID:109316	HDAC2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110384	BioGRID:113946	HIST1H3A	BioGRID	PubMed	Biochemical Activity
BioGRID:110384	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:110384	BioGRID:109544	HSPA8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110384	BioGRID:109930	JUND	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110384	BioGRID:110373	MEF2D	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:110443	MLL	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Co-purification; Reconstituted Complex
BioGRID:110384	BioGRID:110447	MLLT4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:110687	MYB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:110857	NFKB1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:110858	NFKB2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110384	BioGRID:111426	POLR2A	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:110384	BioGRID:116339	PSIP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:111864	RBBP5	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:110384	BioGRID:111902	RELA	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:112038	RPA2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110384	BioGRID:121145	RPRM	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110384	BioGRID:117439	SIN3A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:110261	SMAD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:110263	SMAD3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:110265	SMAD5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:116597	SNW1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:115563	STUB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110384	BioGRID:112791	TCF3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:112787	TCF4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:113010	TP53	BioGRID	PubMed	Reconstituted Complex
BioGRID:110384	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:110384	BioGRID:113272	VIM	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110384	BioGRID:116272	WDR5	BioGRID	PubMed	Co-purification
BioGRID:110384	BioGRID:113327	WT1	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
R-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
Y-form DNA binding	IDA Inferred from Direct Assay more info	PubMed
chromatin binding	IEA Inferred from Electronic Annotation more info
double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
four-way junction DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to histone-lysine N-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
protein N-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding, bridging	IDA Inferred from Direct Assay more info
transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info

Process	Evidence Code	Pubs
DNA repair	NAS Non-traceable Author Statement more info	PubMed
MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
brain development	IEA Inferred from Electronic Annotation more info
cell cycle arrest	IEA Inferred from Electronic Annotation more info
chromatin remodeling	IEA Inferred from Electronic Annotation more info
embryo development	IEA Inferred from Electronic Annotation more info
embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
hemopoiesis	IEA Inferred from Electronic Annotation more info
histone lysine methylation	IDA Inferred from Direct Assay more info	PubMed
leukocyte homeostasis	IEA Inferred from Electronic Annotation more info
maternal process involved in female pregnancy	IEA Inferred from Electronic Annotation more info
negative regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
negative regulation of cyclin-dependent protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of organ growth	IEA Inferred from Electronic Annotation more info
negative regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of osteoblast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of telomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
negative regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
ossification	IEA Inferred from Electronic Annotation more info
osteoblast development	IEA Inferred from Electronic Annotation more info
osteoblast development	IGI Inferred from Genetic Interaction more info	PubMed
osteoblast fate commitment	IEA Inferred from Electronic Annotation more info
palate development	IEA Inferred from Electronic Annotation more info
positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of cell division	IEA Inferred from Electronic Annotation more info
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of histone methylation	IEA Inferred from Electronic Annotation more info
positive regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of protein binding	IDA Inferred from Direct Assay more info
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
positive regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
response to DNA damage stimulus	IDA Inferred from Direct Assay more info	PubMed
response to UV	IDA Inferred from Direct Assay more info	PubMed
response to gamma radiation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
chromatin	IDA Inferred from Direct Assay more info	PubMed
cleavage furrow	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
cytosol	IDA Inferred from Direct Assay more info	PubMed
histone methyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
histone methyltransferase complex	IPI Inferred from Physical Interaction more info	PubMed
nuclear matrix	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
nucleus	IEA Inferred from Electronic Annotation more info
protein complex	IDA Inferred from Direct Assay more info	PubMed
soluble fraction	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: menin

Names: menin

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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_008929.1 RefSeqGene

Range

5001..12781

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000244.3 → NP_000235.2 menin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1), representing the first transcript identified for this gene, has a unique 5' UTR and encodes the longer isoform (1).

Source sequence(s)

AA877856, AP001462, BC002664, BE267140, U93236

Consensus CDS

CCDS8083.1

UniProtKB/Swiss-Prot

O00255

Related

ENSP00000396940, ENST00000443283

Conserved Domains (1) summary

pfam05053
Location:1 – 615
Blast Score: 2473

Menin; Menin
NM_130799.2 → NP_570711.1 menin isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs from variant 1 by using an alternative splice site in exon 2. Use of this splice site results in the loss of 15 nt at the end of exon 2. Isoform 2 is missing an internal 5 aa as compared to isoform 1.

Source sequence(s)

AA877856, AP001462, BC002664, U93236

Consensus CDS

CCDS31600.1

UniProtKB/Swiss-Prot

O00255

Related

ENSP00000308975, OTTHUMP00000042868, ENST00000312049, OTTHUMT00000105354

Conserved Domains (1) summary

pfam05053
Location:1 – 610
Blast Score: 2490

Menin; Menin
NM_130800.2 → NP_570712.1 menin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (e1B) encodes the same isoform as variant 1. This variant has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1C.

Source sequence(s)

AA877856, AJ297485, BC002664, BE267140, U93236

Consensus CDS

CCDS8083.1

UniProtKB/Swiss-Prot

O00255

UniProtKB/TrEMBL

Q9GZQ5

Related

ENSP00000366538, OTTHUMP00000070175, ENST00000377321, OTTHUMT00000143880

Conserved Domains (1) summary

pfam05053
Location:1 – 615
Blast Score: 2473

Menin; Menin
NM_130801.2 → NP_570713.1 menin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (e1C) encodes the same isoform as variant 1. This variant has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1B.

Source sequence(s)

AA877856, AJ297486, BC002664, BE267140, U93236

Consensus CDS

CCDS8083.1

UniProtKB/Swiss-Prot

O00255

UniProtKB/TrEMBL

Q9GZQ5

Related

ENSP00000366530, OTTHUMP00000070184, ENST00000377313, OTTHUMT00000143889

Conserved Domains (1) summary

pfam05053
Location:1 – 615
Blast Score: 2473

Menin; Menin
NM_130802.2 → NP_570714.1 menin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (e1D) encodes the same isoform as variant 1. This variant has a unique 5' UTR different from that of variant 1.

Source sequence(s)

AA877856, AJ297487, AP001462, BC002664, BE267140, U93236

Consensus CDS

CCDS8083.1

UniProtKB/Swiss-Prot

O00255

UniProtKB/TrEMBL

Q9GZQ5

Related

ENSP00000377899, ENST00000394374

Conserved Domains (1) summary

pfam05053
Location:1 – 615
Blast Score: 2473

Menin; Menin
NM_130803.2 → NP_570715.1 menin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (e1E) encodes the same isoform as variant 1. This variant has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1F1.

Source sequence(s)

AA877856, AJ297488, BC002664, BE267140, U93236

Consensus CDS

CCDS8083.1

UniProtKB/Swiss-Prot

O00255

UniProtKB/TrEMBL

Q9GZQ5

Related

ENSP00000337088, ENST00000337652

Conserved Domains (1) summary

pfam05053
Location:1 – 615
Blast Score: 2473

Menin; Menin
NM_130804.2 → NP_570716.1 menin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (e1F1) encodes the same isoform as variant 1. This variant has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1E.

Source sequence(s)

AA877856, AJ297489, BC002664, BE267140, U93236

Consensus CDS

CCDS8083.1

UniProtKB/Swiss-Prot

O00255

UniProtKB/TrEMBL

Q9GZQ5

Related

ENSP00000377901, ENST00000394376

Conserved Domains (1) summary

pfam05053
Location:1 – 615
Blast Score: 2473

Menin; Menin

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_000011.9 Reference GRCh37.p5 Primary Assembly

Range

64570986..64578766, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

60898267..60932150, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ132593.1	None
genomic	AJ132594.1	None
genomic	AJ132596.1	None
genomic	AP001462.3 (87789..95567)	None
genomic	AY306001.1	AAP74572.1
genomic	CH471076.1	EAW74303.1
		EAW74304.1
		EAW74305.1
		EAW74306.1
		EAW74307.1
		EAW74308.1
		EAW74309.1
		EAW74310.1
		EAW74311.1
		EAW74312.1
		EAW74313.1
		EAW74314.1
		EAW74315.1
genomic	EF443091.1	ABQ12621.1
genomic	EF443092.1	ABQ12622.1
genomic	EF443093.1	ABQ12623.1
genomic	EF443094.1	ABQ12624.1
genomic	EF443095.1	ABQ12625.1
genomic	EF443096.1	ABQ12626.1
genomic	EF443097.1	ABQ12627.1
genomic	U93237.1	AAC51229.1
		AAC51230.1
mRNA	AA877856.1	None
mRNA	AJ297485.1	CAC14129.1
mRNA	AJ297486.1	CAC14130.1
mRNA	AJ297487.1	CAC14131.1
mRNA	AJ297488.1	CAC14132.1
mRNA	AJ297489.1	CAC14133.1
mRNA	BC002544.2	AAH02544.1
mRNA	BC002664.2	AAH02664.2
mRNA	BE267140.1	None
mRNA	U93236.1	AAC51228.1
mRNA	Y12338.1	CAA73007.1
other-genetic	DQ890757.2	ABM81683.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O00255.4	GenPept	UniProtKB/Swiss-Prot:O00255
Q7Z5Y5	GenPept	UniProtKB/TrEMBL:Q7Z5Y5
Q9GZQ5	GenPept	UniProtKB/TrEMBL:Q9GZQ5
Q9UE24	GenPept	UniProtKB/TrEMBL:Q9UE24