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

Gene ID: 4221, updated on 12-Apr-2015
Official Symbol
MEN1provided by HGNC
Official Full Name
multiple endocrine neoplasia Iprovided by HGNC
Primary source
HGNC: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]
Orthologs
See MEN1 in MapViewer
Location:
11q13
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 Interaction Database

  • Cell cycle, organism-specific biosystem (from WikiPathways)
    Cell cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases activate IQGAPs, organism-specific biosystem (from REACTOME)
    RHO GTPases activate IQGAPs, organism-specific biosystemIQGAPs constitute a family of scaffolding proteins characterized by a calponin homology (CH) domain, a polyproline binding region (WW domain), a tandem of four IQ (isoleucine and glutamine-rich) repe...
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystem (from REACTOME)
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystemAfter phosphorylated SMAD2 and/or SMAD3 form a heterotrimer with SMAD4, SMAD2/3:SMAD4 complex translocates to the nucleus (Xu et al. 2000, Kurisaki et al. 2001, Xiao et al. 2003). In the nucleus, lin...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
    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 ...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...
  • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
    Transcriptional misregulation in cancer, organism-specific biosystem
    Transcriptional misregulation in cancer
  • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
    Transcriptional misregulation in cancer, conserved biosystem
    Transcriptional misregulation in cancer
  • deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
  • formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
    formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
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 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
PubMed 
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 
small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
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 
cytosol TAS
Traceable Author Statement
more info
 
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 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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 RefSeqGene

    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 identical proteins and their annotated locations for 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/TrEMBL
    A0A024R5D2
    UniProtKB/Swiss-Prot
    O00255
    Conserved Domains (1) summary
    pfam05053
    Location:2615
    Menin; Menin
  2. NM_130799.2NP_570711.1  menin isoform 2

    See identical proteins and their annotated locations for 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/TrEMBL
    A0A024R5E3
    UniProtKB/Swiss-Prot
    O00255
    Related
    ENSP00000308975, OTTHUMP00000042868, ENST00000312049, OTTHUMT00000105354
    Conserved Domains (2) summary
    pfam05053
    Location:2610
    Menin; Menin
    cd14456
    Location:3458
    Menin; Scaffolding protein menin encoded by the MEN1 gene
  3. NM_130800.2NP_570712.1  menin isoform 1

    See identical proteins and their annotated locations for 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/TrEMBL
    A0A024R5D2
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    Q9GZQ5
    Related
    ENSP00000366538, OTTHUMP00000070175, ENST00000377321, OTTHUMT00000143880
    Conserved Domains (1) summary
    pfam05053
    Location:2615
    Menin; Menin
  4. NM_130801.2NP_570713.1  menin isoform 1

    See identical proteins and their annotated locations for 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/TrEMBL
    A0A024R5D2
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    Q9GZQ5
    Conserved Domains (1) summary
    pfam05053
    Location:2615
    Menin; Menin
  5. NM_130802.2NP_570714.1  menin isoform 1

    See identical proteins and their annotated locations for 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/TrEMBL
    A0A024R5D2
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    Q9GZQ5
    Related
    ENSP00000377899, ENST00000394374
    Conserved Domains (1) summary
    pfam05053
    Location:2615
    Menin; Menin
  6. NM_130803.2NP_570715.1  menin isoform 1

    See identical proteins and their annotated locations for 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/TrEMBL
    A0A024R5D2
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    Q9GZQ5
    Related
    ENSP00000337088, ENST00000337652
    Conserved Domains (1) summary
    pfam05053
    Location:2615
    Menin; Menin
  7. NM_130804.2NP_570716.1  menin isoform 1

    See identical proteins and their annotated locations for 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/TrEMBL
    A0A024R5D2
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    Q9GZQ5
    Related
    ENSP00000377901, ENST00000394376
    Conserved Domains (1) summary
    pfam05053
    Location:2615
    Menin; Menin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005274001.3XP_005274058.1  

    UniProtKB/Swiss-Prot
    O00255
    Related
    ENSP00000323747, OTTHUMP00000070176, ENST00000315422, OTTHUMT00000143881
    Conserved Domains (3) summary
    pfam05053
    Location:2610
    Menin; Menin
    cd14456
    Location:3458
    Menin; Scaffolding protein menin encoded by the MEN1 gene
    cl00454
    Location:499549
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  2. XM_011545040.1XP_011543342.1  

    See identical proteins and their annotated locations for XP_011543342.1

    Conserved Domains (3) summary
    pfam05053
    Location:2652
    Menin; Menin
    cd14456
    Location:3500
    Menin; Scaffolding protein menin encoded by the MEN1 gene
    cl00454
    Location:541591
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  3. XM_011545041.1XP_011543343.1  

    See identical proteins and their annotated locations for XP_011543343.1

    Conserved Domains (3) summary
    pfam05053
    Location:2652
    Menin; Menin
    cd14456
    Location:3500
    Menin; Scaffolding protein menin encoded by the MEN1 gene
    cl00454
    Location:541591
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...
  4. XM_011545042.1XP_011543344.1  

    See identical proteins and their annotated locations for XP_011543344.1

    Conserved Domains (3) summary
    pfam05053
    Location:2652
    Menin; Menin
    cd14456
    Location:3500
    Menin; Scaffolding protein menin encoded by the MEN1 gene
    cl00454
    Location:541591
    TM_PBP1_branched-chain-AA_like; Transmembrane subunit (TM) of Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which are involved in the uptake of branched-chain amino acids (AAs), as well as TMs of transporters involved in the uptake of ...

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

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