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    MEN1 menin 1 [ Homo sapiens (human) ]

    Gene ID: 4221, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MEN1provided by HGNC
    Official Full Name
    menin 1provided by HGNC
    Primary source
    HGNC:HGNC:7010
    See related
    Ensembl:ENSG00000133895 MIM:613733; AllianceGenome:HGNC:7010
    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
    mouse all
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    Genomic context

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    See MEN1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64803516..64811294, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64796826..64804601, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64570988..64578766, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64532334-64533208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64533209-64534081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64534082-64534955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64545791-64546392 Neighboring gene splicing factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64557481-64557982 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 2 Neighboring gene Sharpr-MPRA regulatory region 11124 Neighboring gene MPRA-validated peak1298 silencer Neighboring gene Sharpr-MPRA regulatory region 2965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64594480-64594980 Neighboring gene CDC42 binding protein kinase gamma Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64609163-64609975 Neighboring gene Sharpr-MPRA regulatory region 8286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64610788-64611600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64620804-64621802 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64622049-64623248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4925 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64630869-64631680 Neighboring gene EH domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4928 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64641208-64641398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64644230-64645006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3499 Neighboring gene microRNA 10392

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. An oncogenic role for the multiple endocrine neoplasia type 1 gene in prostate cancer. Paris PL, et al. Prostate Cancer Prostatic Dis, 2009. PMID 18779856, Free PMC Article
    2. Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene. Griniatsos JE, et al. World J Surg Oncol, 2011 Jan 25. PMID 21266030, Free PMC Article
    3. The menin tumor suppressor protein is phosphorylated in response to DNA damage. Francis J, et al. PLoS One, 2011 Jan 14. PMID 21264250, Free PMC Article
    4. A new frameshift MEN1 gene mutation associated with familial malignant insulinomas. Hasani-Ranjbar S, et al. Fam Cancer, 2011 Jun. PMID 21184284
    5. A novel mutation of the MEN1 gene in a Chinese kindred with multiple endocrine neoplasia type 1. Xu L, et al. Endocr J, 2010. PMID 20710116

    See all (382) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MEN1 Deficiency-Driven Activation of the beta-Catenin-MGMT Axis Promotes Pancreatic Neuroendocrine Tumor Growth and Confers Temozolomide Resistance.
      Title: MEN1 Deficiency-Driven Activation of the β-Catenin-MGMT Axis Promotes Pancreatic Neuroendocrine Tumor Growth and Confers Temozolomide Resistance.
    2. Menin signaling and therapeutic targeting in breast cancer.
      Title: Menin signaling and therapeutic targeting in breast cancer.
    3. Investigating the Effects of Amino Acid Variations in Human Menin.
      Title: Investigating the Effects of Amino Acid Variations in Human Menin.
    4. Combined deletion of MEN1, ATRX and PTEN triggers development of high-grade pancreatic neuroendocrine tumors in mice.
      Title: Combined deletion of MEN1, ATRX and PTEN triggers development of high-grade pancreatic neuroendocrine tumors in mice.
    5. Multiple endocrine neoplasia type 1 with Zollinger-Ellison syndrome: clinicopathological analysis of a Japanese family with focus on menin immunohistochemistry.
      Title: Multiple endocrine neoplasia type 1 with Zollinger-Ellison syndrome: clinicopathological analysis of a Japanese family with focus on menin immunohistochemistry.
    6. Dependency of B-Cell Acute Lymphoblastic Leukemia and Multiple Myeloma Cell Lines on MEN1 Extends beyond MEN1-KMT2A Interaction.
      Title: Dependency of B-Cell Acute Lymphoblastic Leukemia and Multiple Myeloma Cell Lines on MEN1 Extends beyond MEN1-KMT2A Interaction.
    7. Blood-based Proteomic Signatures Associated With MEN1-related Duodenopancreatic Neuroendocrine Tumor Progression.
      Title: Blood-based Proteomic Signatures Associated With MEN1-related Duodenopancreatic Neuroendocrine Tumor Progression.
    8. MEN1 is a regulator of alternative splicing and prevents R-loop-induced genome instability through suppression of RNA polymerase II elongation.
      Title: MEN1 is a regulator of alternative splicing and prevents R-loop-induced genome instability through suppression of RNA polymerase II elongation.
    9. Clinically Defined Mutations in MEN1 Alter Its Tumor-suppressive Function Through Increased Menin Turnover.
      Title: Clinically Defined Mutations in MEN1 Alter Its Tumor-suppressive Function Through Increased Menin Turnover.
    10. Evaluating the role of MEN1 gene expression and its clinical significance in breast cancer patients.
      Title: Evaluating the role of MEN1 gene expression and its clinical significance in breast cancer patients.
    Submit: New GeneRIF Correction See all GeneRIFs (259)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    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
    MedGen: C0025267 OMIM: 131100 GeneReviews: Multiple Endocrine Neoplasia Type 1
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-01-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-01-12)

    ClinGen Genome Curation PagePubMed

    EBI 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.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables Y-form DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Y-form DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphoprotein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in T-helper 2 cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of osteoblast differentiation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within osteoblast development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to UV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription initiation-coupled chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MLL1 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of MLL1/2 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome, telomeric region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cleavage furrow IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    part_of histone methyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription repressor complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    menin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_000244.4 → NP_000235.3  menin isoform 1

      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, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
      UniProtKB/TrEMBL
      A0A8C8KI72
      Related
      ENSP00000518530.1, ENST00000710881.1

    2. NM_001370251.2 → NP_001357180.2  menin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 9, 10, and 11, encodes isoform 3.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91503.1
      UniProtKB/TrEMBL
      A0A5F9ZHS3, A0A8C8KI72
      Related
      ENSP00000500585.1, ENST00000672304.1

    3. NM_001370259.2 → NP_001357188.2  menin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2, 5, 6, 13, and 14, encodes isoform 2.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      UniProtKB/TrEMBL
      A0A8C8KI72
      Related
      ENSP00000394933.3, ENST00000450708.7
      Conserved Domains (1) summary
      pfam05053
      Location:2 → 608
      Menin

    4. NM_001370260.2 → NP_001357189.2  menin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 2, 4, 6, 13, and 14, all encode isoform 2.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      UniProtKB/TrEMBL
      A0A8C8KI72
      Related
      ENSP00000413944.2, ENST00000440873.6

    5. NM_001370261.2 → NP_001357190.2  menin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 2, 4, 5, 13, and 14, all encode isoform 2.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      UniProtKB/TrEMBL
      A0A8C8KI72
      Related
      ENSP00000323747.4, ENST00000315422.9

    6. NM_001370262.2 → NP_001357191.2  menin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 8, 15, and 16, encodes isoform 4.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91504.1
      UniProtKB/TrEMBL
      A0A8C8KI72, A0AA75I0P0

    7. NM_001370263.2 → NP_001357192.2  menin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 7, 15, and 16, encodes isoform 4.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91504.1
      UniProtKB/TrEMBL
      A0A8C8KI72, A0AA75I0P0
      Related
      ENSP00000366538.1, ENST00000377321.5

    8. NM_001407142.1 → NP_001394071.1  menin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91503.1
      UniProtKB/TrEMBL
      A0A5F9ZHS3, A0A8C8KI72

    9. NM_001407143.1 → NP_001394072.1  menin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91503.1
      UniProtKB/TrEMBL
      A0A5F9ZHS3, A0A8C8KI72

    10. NM_001407144.1 → NP_001394073.1  menin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0A5F9ZHS3, A0A8C8KI72

    11. NM_001407145.1 → NP_001394074.1  menin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0A8C8KI72

    12. NM_001407146.1 → NP_001394075.1  menin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      UniProtKB/TrEMBL
      A0A8C8KI72
      Related
      ENSP00000411218.2, ENST00000413626.2

    13. NM_001407147.1 → NP_001394076.1  menin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      UniProtKB/TrEMBL
      A0A8C8KI72

    14. NM_001407148.1 → NP_001394077.1  menin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0A8C8KI72, A0AA75I0P0

    15. NM_001407149.1 → NP_001394078.1  menin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0A8C8KI72, A0AA75I0P0

    16. NM_001407150.1 → NP_001394079.1  menin isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17) encodes the longest isoform (5).
      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0A8C8KI72

    17. NM_001407151.1 → NP_001394080.1  menin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0A8C8KI72

    18. NM_001407152.1 → NP_001394081.1  menin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0A8C8KI72, E7EN32
      Related
      ENSP00000366533.1, ENST00000377316.6

    19. NM_130799.3 → NP_570711.2  menin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs from variant 1 by using an alternative splice site in the 5' CDS. It encodes isoform 2, which is missing an internal 5 aa compared to isoform 1. Variants 2, 4, 5, 6, 13, and 14 all encode the same isoform (2).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      UniProtKB/TrEMBL
      A0A8C8KI72
      Related
      ENSP00000308975.6, ENST00000312049.11

    20. NM_130800.3 → NP_570712.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1B) differs in the 5' UTR compared to variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
      UniProtKB/TrEMBL
      A0A8C8KI72

    21. NM_130801.3 → NP_570713.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1C) differs in the 5' UTR from variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
      UniProtKB/TrEMBL
      A0A8C8KI72

    22. NM_130802.3 → NP_570714.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1D) differs in the 5' UTR compared to variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
      UniProtKB/TrEMBL
      A0A8C8KI72
      Related
      ENSP00000366530.1, ENST00000377313.7

    23. NM_130803.3 → NP_570715.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1E) differs in the 5' UTR compared to variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
      UniProtKB/TrEMBL
      A0A8C8KI72

    24. NM_130804.3 → NP_570716.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1F) differs in the 5' UTR compared to variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
      UniProtKB/TrEMBL
      A0A8C8KI72

    RNA

    1. NR_176284.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001462

    2. NR_176285.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001462
      Related
      ENST00000394374.8

    3. NR_176286.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001462

    4. NR_176287.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001462
      Related
      ENST00000672079.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64803516..64811294 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017768.2 → XP_016873257.1  menin isoform X1

      UniProtKB/TrEMBL
      A0A8C8KI72

    2. XM_017017767.3 → XP_016873256.1  menin isoform X1

      UniProtKB/TrEMBL
      A0A8C8KI72

    3. XM_017017766.2 → XP_016873255.1  menin isoform X1

      UniProtKB/TrEMBL
      A0A8C8KI72

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64796826..64804601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368826.1 → XP_054224801.1  menin isoform X1

      UniProtKB/TrEMBL
      A0A8C8KI72

    2. XM_054368827.1 → XP_054224802.1  menin isoform X1

      UniProtKB/TrEMBL
      A0A8C8KI72
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00255.5 GenPept UniProtKB/Swiss-Prot:O00255

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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