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MEN1 multiple endocrine neoplasia I [ Homo sapiens (human) ]

Gene ID: 4221, updated on 29-Jul-2014
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]
See MEN1 in Epigenomics, MapViewer
Location:
11q13
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (64803514..64811294, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64570986..64578766, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene splicing factor 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 2 Neighboring gene CDC42 binding protein kinase gamma (DMPK-like) Neighboring gene EH-domain containing 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MEN1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Multiple endocrine neoplasia, type 1 Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat SKIP and c-Myc interact with menin and the MLL1 complex. HIV-1 Tat transactivation requires menin, but not MLL1 or Ash2L PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Cell cycle, organism-specific biosystem (from WikiPathways)
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  • Loss of Function of SMAD4 in Cancer, organism-specific biosystem (from REACTOME)
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    Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
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    Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystemSignaling by the TGF-beta receptor complex is tumor suppressive, as it inhibits cell growth and promotes cell differentiation and apoptosis (Shipley et al. 1986, Hannon et al. 1994, Datto et al. 1995...
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
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
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
gene expression TAS
Traceable Author Statement
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 cyclin-dependent protein serine/threonine 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 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, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
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 TAS
Traceable Author Statement
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 UV IDA
Inferred from Direct Assay
more info
PubMed 
response to gamma radiation IDA
Inferred from Direct Assay
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription, DNA-templated TAS
Traceable Author Statement
more info
 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
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
 
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
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 

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

  1. NG_008929.1 

    Range
    5001..12781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_509

mRNA and Protein(s)

  1. NM_000244.3NP_000235.2  menin isoform 1

    See proteins identical to NP_000235.2

    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:2615
    Blast Score: 2628
    Menin; Menin
  2. NM_130799.2NP_570711.1  menin isoform 2

    See proteins identical to NP_570711.1

    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:2610
    Blast Score: 2644
    Menin; Menin
  3. NM_130800.2NP_570712.1  menin isoform 1

    See proteins identical to NP_570712.1

    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
    Conserved Domains (1) summary
    pfam05053
    Location:2615
    Blast Score: 2628
    Menin; Menin
  4. NM_130801.2NP_570713.1  menin isoform 1

    See proteins identical to NP_570713.1

    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
    Conserved Domains (1) summary
    pfam05053
    Location:2615
    Blast Score: 2628
    Menin; Menin
  5. NM_130802.2NP_570714.1  menin isoform 1

    See proteins identical to NP_570714.1

    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:2615
    Blast Score: 2628
    Menin; Menin
  6. NM_130803.2NP_570715.1  menin isoform 1

    See proteins identical to NP_570715.1

    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:2615
    Blast Score: 2628
    Menin; Menin
  7. NM_130804.2NP_570716.1  menin isoform 1

    See proteins identical to NP_570716.1

    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:2615
    Blast Score: 2628
    Menin; Menin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    64803514..64811294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718557.1XP_006718620.1  

    See proteins identical to XP_006718620.1

    UniProtKB/Swiss-Prot
    O00255
    Conserved Domains (1) summary
    pfam05053
    Location:2610
    Blast Score: 2680
    Menin; Menin
  2. XM_005274001.2XP_005274058.1  

    See proteins identical to XP_005274058.1

    UniProtKB/Swiss-Prot
    O00255
    Related
    ENSP00000323747, OTTHUMP00000070176
    Conserved Domains (1) summary
    pfam05053
    Location:2610
    Blast Score: 2680
    Menin; Menin
  3. XM_005274002.2XP_005274059.1  

    See proteins identical to XP_005274059.1

    UniProtKB/Swiss-Prot
    O00255
    Conserved Domains (1) summary
    pfam05053
    Location:2610
    Blast Score: 2680
    Menin; Menin
  4. XM_005274003.2XP_005274060.1  

    See proteins identical to XP_005274060.1

    UniProtKB/Swiss-Prot
    O00255
    Conserved Domains (1) summary
    pfam05053
    Location:2610
    Blast Score: 2680
    Menin; Menin

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    60898267..60932150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    64454762..64462538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)