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MEN1 menin 1 [ Homo sapiens (human) ]

Gene ID: 4221, updated on 22-Nov-2020

Summary

Official Symbol
MEN1provided by HGNC
Official Full Name
menin 1provided by HGNC
Primary source
HGNC:HGNC:7010
See related
Ensembl:ENSG00000133895 MIM:613733
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 tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]
Expression
Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 7.0) and 25 other tissues See more
Orthologs

Genomic context

See MEN1 in Genome Data Viewer
Location:
11q13.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 Neighboring gene Sharpr-MPRA regulatory region 8286 Neighboring gene EH domain containing 1 Neighboring gene microRNA 10392

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
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.
GeneReviews: Not available
Multiple endocrine neoplasia, type 1 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-11-16)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-16)

ClinGen Genome Curation Page

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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-macromolecule adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription regulatory region sequence-specific 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 
beta-catenin-TCF complex assembly TAS
Traceable Author Statement
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to peptide hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
decidualization IEA
Inferred from Electronic Annotation
more info
 
histone lysine methylation IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell cycle G1/S phase transition IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell proliferation 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 telomerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II 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 
positive regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
positive regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of activin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of type B pancreatic cell proliferation 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 
response to transforming growth factor beta IEA
Inferred from Electronic Annotation
more info
 
type B pancreatic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
 
cleavage furrow IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
histone methyltransferase complex IBA
Inferred from Biological aspect of Ancestor
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 
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-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

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

  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) represents the first transcript identified for this gene and has a unique 5' UTR. Variants 1, e1B, e1C, e1D, e1E, and e1F1 all encode the same isoform (1).
    Source sequence(s)
    AA877856, AP001462, BC002664, BE267140, U93236
    Consensus CDS
    CCDS8083.1
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    A0A024R5D2
    Conserved Domains (1) summary
    pfam05053
    Location:2613
    Menin; Menin
  2. NM_001370251.1NP_001357180.1  menin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AP001462, BC002544
    Related
    ENSP00000500585.1, ENST00000672304.1
    Conserved Domains (1) summary
    pfam05053
    Location:2650
    Menin
  3. NM_001370259.2NP_001357188.2  menin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 2, 5, and 6, encodes isoform 2.
    Source sequence(s)
    AP001462
    Related
    ENSP00000394933.2, ENST00000450708.6
  4. NM_001370260.1NP_001357189.1  menin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 2, 4, and 6, encodes isoform 2.
    Source sequence(s)
    AP001462, BC002544
    Related
    ENSP00000413944.2, ENST00000440873.6
    Conserved Domains (1) summary
    pfam05053
    Location:2608
    Menin
  5. NM_001370261.1NP_001357190.1  menin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 2, 4, and 5, encodes isoform 2.
    Source sequence(s)
    AP001462, BC002544
    Related
    ENSP00000323747.4, ENST00000315422.9
    Conserved Domains (1) summary
    pfam05053
    Location:2608
    Menin
  6. NM_001370262.1NP_001357191.1  menin isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform 4.
    Source sequence(s)
    AP001462, BC002544
    Conserved Domains (1) summary
    pfam05053
    Location:2573
    Menin
  7. NM_001370263.1NP_001357192.1  menin isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform 4.
    Source sequence(s)
    AP001462, BC002544
    Related
    ENSP00000366538.1, ENST00000377321.5
    Conserved Domains (1) summary
    pfam05053
    Location:2573
    Menin
  8. 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. Variants 2, 4, 5, and 6 all encode the same isoform (2).
    Source sequence(s)
    AA877856, AP001462, BC002664, U93236
    Consensus CDS
    CCDS31600.1
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    A0A024R5E3
    Related
    ENSP00000308975.6, ENST00000312049.10
    Conserved Domains (1) summary
    pfam05053
    Location:2608
    Menin
  9. 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) has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1C. Variants 1, e1B, e1C, e1D, e1E, and e1F1 all encode the same isoform (1).
    Source sequence(s)
    AA877856, AJ297485, BC002664, BE267140, U93236
    Consensus CDS
    CCDS8083.1
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    A0A024R5D2, Q9GZQ5
    Conserved Domains (1) summary
    pfam05053
    Location:2613
    Menin; Menin
  10. 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) has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1B. Variants 1, e1B, e1C, e1D, e1E, and e1F1 all encode the same isoform (1).
    Source sequence(s)
    AA877856, AJ297486, BC002664, BE267140, U93236
    Consensus CDS
    CCDS8083.1
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    A0A024R5D2, Q9GZQ5
    Related
    ENSP00000366530.1, ENST00000377313.6
    Conserved Domains (1) summary
    pfam05053
    Location:2613
    Menin; Menin
  11. 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) has a unique 5' UTR different from that of variant 1. Variants 1, e1B, e1C, e1D, e1E, and e1F1 all encode the same isoform (1).
    Source sequence(s)
    AA877856, AJ297487, AP001462, BC002664, BE267140, U93236
    Consensus CDS
    CCDS8083.1
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    A0A024R5D2, Q9GZQ5
    Related
    ENSP00000377899.2, ENST00000394374.6
    Conserved Domains (1) summary
    pfam05053
    Location:2613
    Menin; Menin
  12. 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) has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1F1. Variants 1, e1B, e1C, e1D, e1E, and e1F1 all encode the same isoform (1).
    Source sequence(s)
    AA877856, AJ297488, BC002664, BE267140, U93236
    Consensus CDS
    CCDS8083.1
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    A0A024R5D2, Q9GZQ5
    Related
    ENSP00000337088.1, ENST00000337652.5
    Conserved Domains (1) summary
    pfam05053
    Location:2613
    Menin; Menin
  13. 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) has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1E. Variants 1, e1B, e1C, e1D, e1E, and e1F1 all encode the same isoform (1).
    Source sequence(s)
    AA877856, AJ297489, BC002664, BE267140, U93236
    Consensus CDS
    CCDS8083.1
    UniProtKB/Swiss-Prot
    O00255
    UniProtKB/TrEMBL
    A0A024R5D2, Q9GZQ5
    Related
    ENSP00000377901.1, ENST00000394376.5
    Conserved Domains (1) summary
    pfam05053
    Location:2613
    Menin; Menin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011545040.1XP_011543342.1  menin isoform X2

    See identical proteins and their annotated locations for XP_011543342.1

    Conserved Domains (2) summary
    cd14456
    Location:3500
    Menin; Scaffolding protein menin encoded by the MEN1 gene
    pfam05053
    Location:2650
    Menin; Menin
  2. XM_017017765.1XP_016873254.1  menin isoform X1

  3. XM_017017768.1XP_016873257.1  menin isoform X1

  4. XM_011545041.2XP_011543343.1  menin isoform X2

    See identical proteins and their annotated locations for XP_011543343.1

    Conserved Domains (2) summary
    cd14456
    Location:3500
    Menin; Scaffolding protein menin encoded by the MEN1 gene
    pfam05053
    Location:2650
    Menin; Menin
  5. XM_017017766.1XP_016873255.1  menin isoform X1

  6. XM_017017767.2XP_016873256.1  menin isoform X1

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