LOCUS       NM_001370259            2712 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens menin 1 (MEN1), transcript variant 4, mRNA.
ACCESSION   NM_001370259 XM_017017769
VERSION     NM_001370259.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2712)
  AUTHORS   Xu,J., Lou,X., Wang,F., Zhang,W., Xu,X., Ye,Z., Zhuo,Q., Wang,Y.,
            Jing,D., Fan,G., Chen,X., Zhang,Y., Zhou,C., Chen,J., Qin,Y., Yu,X.
            and Ji,S.
  TITLE     MEN1 Deficiency-Driven Activation of the beta-Catenin-MGMT Axis
            Promotes Pancreatic Neuroendocrine Tumor Growth and Confers
            Temozolomide Resistance
  JOURNAL   Adv Sci (Weinh) 11 (35), e2308417 (2024)
   PUBMED   39041891
  REMARK    GeneRIF: MEN1 Deficiency-Driven Activation of the beta-Catenin-MGMT
            Axis Promotes Pancreatic Neuroendocrine Tumor Growth and Confers
            Temozolomide Resistance.
REFERENCE   2  (bases 1 to 2712)
  AUTHORS   Liu,P., Shi,C., Qiu,L., Shang,D., Lu,Z., Tu,Z. and Liu,H.
  TITLE     Menin signaling and therapeutic targeting in breast cancer
  JOURNAL   Curr Probl Cancer 51, 101118 (2024)
   PUBMED   38968834
  REMARK    GeneRIF: Menin signaling and therapeutic targeting in breast
            cancer.
            Review article
REFERENCE   3  (bases 1 to 2712)
  AUTHORS   Fuentes,M.E., Lu,X., Flores,N.M., Hausmann,S. and Mazur,P.K.
  TITLE     Combined deletion of MEN1, ATRX and PTEN triggers development of
            high-grade pancreatic neuroendocrine tumors in mice
  JOURNAL   Sci Rep 14 (1), 8510 (2024)
   PUBMED   38609433
  REMARK    GeneRIF: Combined deletion of MEN1, ATRX and PTEN triggers
            development of high-grade pancreatic neuroendocrine tumors in mice.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2712)
  AUTHORS   Wolffhardt,T.M., Ketzer,F., Telese,S., Wirth,T. and Ushmorov,A.
  TITLE     Dependency of B-Cell Acute Lymphoblastic Leukemia and Multiple
            Myeloma Cell Lines on MEN1 Extends beyond MEN1-KMT2A Interaction
  JOURNAL   Int J Mol Sci 24 (22), 16472 (2023)
   PUBMED   38003662
  REMARK    GeneRIF: Dependency of B-Cell Acute Lymphoblastic Leukemia and
            Multiple Myeloma Cell Lines on MEN1 Extends beyond MEN1-KMT2A
            Interaction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2712)
  AUTHORS   Kimura,N., Hirata,Y., Iwashiro,N., Kijima,H., Takayasu,S.,
            Yamagata,S., Sakihara,S., Uchino,S. and Ohara,M.
  TITLE     Multiple endocrine neoplasia type 1 with Zollinger-Ellison
            syndrome: clinicopathological analysis of a Japanese family with
            focus on menin immunohistochemistry
  JOURNAL   Front Endocrinol (Lausanne) 14, 1221514 (2023)
   PUBMED   37867522
  REMARK    GeneRIF: Multiple endocrine neoplasia type 1 with Zollinger-Ellison
            syndrome: clinicopathological analysis of a Japanese family with
            focus on menin immunohistochemistry.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2712)
  AUTHORS   Heppner,C., Kester,M.B., Agarwal,S.K., Debelenko,L.V.,
            Emmert-Buck,M.R., Guru,S.C., Manickam,P., Olufemi,S.E.,
            Skarulis,M.C., Doppman,J.L., Alexander,R.H., Kim,Y.S., Saggar,S.K.,
            Lubensky,I.A., Zhuang,Z., Liotta,L.A., Chandrasekharappa,S.C.,
            Collins,F.S., Spiegel,A.M., Burns,A.L. and Marx,S.J.
  TITLE     Somatic mutation of the MEN1 gene in parathyroid tumours
  JOURNAL   Nat Genet 16 (4), 375-378 (1997)
   PUBMED   9241276
REFERENCE   7  (bases 1 to 2712)
  AUTHORS   Agarwal,S.K., Kester,M.B., Debelenko,L.V., Heppner,C.,
            Emmert-Buck,M.R., Skarulis,M.C., Doppman,J.L., Kim,Y.S.,
            Lubensky,I.A., Zhuang,Z., Green,J.S., Guru,S.C., Manickam,P.,
            Olufemi,S.E., Liotta,L.A., Chandrasekharappa,S.C., Collins,F.S.,
            Spiegel,A.M., Burns,A.L. and Marx,S.J.
  TITLE     Germline mutations of the MEN1 gene in familial multiple endocrine
            neoplasia type 1 and related states
  JOURNAL   Hum Mol Genet 6 (7), 1169-1175 (1997)
   PUBMED   9215689
REFERENCE   8  (bases 1 to 2712)
  AUTHORS   Chandrasekharappa,S.C., Guru,S.C., Manickam,P., Olufemi,S.E.,
            Collins,F.S., Emmert-Buck,M.R., Debelenko,L.V., Zhuang,Z.,
            Lubensky,I.A., Liotta,L.A., Crabtree,J.S., Wang,Y., Roe,B.A.,
            Weisemann,J., Boguski,M.S., Agarwal,S.K., Kester,M.B., Kim,Y.S.,
            Heppner,C., Dong,Q., Spiegel,A.M., Burns,A.L. and Marx,S.J.
  TITLE     Positional cloning of the gene for multiple endocrine
            neoplasia-type 1
  JOURNAL   Science 276 (5311), 404-407 (1997)
   PUBMED   9103196
REFERENCE   9  (bases 1 to 2712)
  AUTHORS   Giusti,F., Marini,F. and Brandi,M.L.
  TITLE     Multiple Endocrine Neoplasia Type 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301710
REFERENCE   10 (bases 1 to 2712)
  AUTHORS   Bystrom,C., Larsson,C., Blomberg,C., Sandelin,K., Falkmer,U.,
            Skogseid,B., Oberg,K., Werner,S. and Nordenskjold,M.
  TITLE     Localization of the MEN1 gene to a small region within chromosome
            11q13 by deletion mapping in tumors
  JOURNAL   Proc Natl Acad Sci U S A 87 (5), 1968-1972 (1990)
   PUBMED   1968641
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001462.3.
            
            On Dec 3, 2019 this sequence version replaced NM_001370259.1.
            
            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].
            
            Transcript Variant: This variant (4), as well as variants 2, 5, 6,
            13, and 14, encodes isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2259456.1,
                                           SRR3476690.1055591.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000450708.7/ ENSP00000394933.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                AP001462.3         94789-94826         c
            39-506              AP001462.3         93940-94407         c
            507-715             AP001462.3         92166-92374         c
            716-844             AP001462.3         91827-91955         c
            845-885             AP001462.3         91454-91494         c
            886-973             AP001462.3         91286-91373         c
            974-1110            AP001462.3         90507-90643         c
            1111-1246           AP001462.3         89910-90045         c
            1247-1411           AP001462.3         89309-89473         c
            1412-2712           AP001462.3         87791-89091         c
FEATURES             Location/Qualifiers
     source          1..2712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2712
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /note="menin 1"
                     /db_xref="GeneID:4221"
                     /db_xref="HGNC:HGNC:7010"
                     /db_xref="MIM:613733"
     exon            1..38
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     exon            39..506
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..1894
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /note="isoform 2 is encoded by transcript variant 4"
                     /codon_start=1
                     /product="menin isoform 2"
                     /protein_id="NP_001357188.2"
                     /db_xref="CCDS:CCDS31600.1"
                     /db_xref="GeneID:4221"
                     /db_xref="HGNC:HGNC:7010"
                     /db_xref="MIM:613733"
                     /translation="MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFV
                     EHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVD
                     LSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFA
                     VVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAER
                     SWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERY
                     PMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNV
                     REALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGE
                     QSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQ
                     VRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQ
                     GAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLV
                     ATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL"
     exon            507..715
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     exon            716..844
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     exon            845..885
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     exon            886..973
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1110
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1246
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1411
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..2712
                     /gene="MEN1"
                     /gene_synonym="MEAI; SCG2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gtgcgccgcg gtgcctagtg tgggatgtaa gcgcggaggc cgccgcccac cgcccgccgc
       61 catggggctg aaggccgccc agaagacgct gttcccgctg cgctccatcg acgacgtggt
      121 gcgcctgttt gctgccgagc tgggccgaga ggagccggac ctggtgctcc tttccttggt
      181 gctgggcttc gtggagcatt ttctggctgt caaccgcgtc atccctacca acgttcccga
      241 gctcaccttc cagcccagcc ccgcccccga cccgcctggc ggcctcacct actttcccgt
      301 ggccgacctg tctatcatcg ccgccctcta tgcccgcttc accgcccaga tccgaggcgc
      361 cgtcgacctg tccctctatc ctcgagaagg gggtgtctcc agccgtgagc tggtgaagaa
      421 ggtctccgat gtcatatgga acagcctcag ccgctcctac ttcaaggatc gggcccacat
      481 ccagtccctc ttcagcttca tcacaggcac caaattggac agctccggtg tggcctttgc
      541 tgtggttggg gcctgccagg ccctgggtct ccgggatgtc cacctcgccc tgtctgagga
      601 tcatgcctgg gtagtgtttg ggcccaatgg ggagcagaca gctgaggtca cctggcacgg
      661 caagggcaac gaggaccgca ggggccagac agtcaatgcc ggtgtggctg agcggagctg
      721 gctgtacctg aaaggatcat acatgcgctg tgaccgcaag atggaggtgg cgttcatggt
      781 gtgtgccatc aacccttcca ttgacctgca caccgactcg ctggagcttc tgcagctgca
      841 gcagaagctg ctctggctgc tctatgacct gggacatctg gaaaggtacc ccatggcctt
      901 agggaacctg gcagatctag aggagctgga gcccacccct ggccggccag acccactcac
      961 cctctaccac aagggcattg cctcagccaa gacctactat cgggatgaac acatctaccc
     1021 ctacatgtac ctggctggct accactgtcg caaccgcaat gtgcgggaag ccctgcaggc
     1081 ctgggcggac acggccactg tcatccagga ctacaactac tgccgggaag acgaggagat
     1141 ctacaaggag ttctttgaag tagccaatga tgtcatcccc aacctgctga aggaggcagc
     1201 cagcttgctg gaggcgggcg aggagcggcc gggggagcaa agccagggca cccagagcca
     1261 aggttccgcc ctccaggacc ctgagtgctt cgcccacctg ctgcgattct acgacggcat
     1321 ctgcaaatgg gaggagggca gtcccacgcc tgtgctgcat gtgggctggg ccacctttct
     1381 tgtgcagtcc ctaggccgtt ttgagggaca ggtgcggcag aaggtgcgca tagtgagccg
     1441 agaggccgag gcggccgagg ccgaggagcc gtggggcgag gaagcccggg aaggccggcg
     1501 gcggggccca cggcgggagt ccaagccaga ggagcccccg ccgcccaaga agccagcact
     1561 ggacaagggc ctgggcaccg gccagggtgc agtgtcagga cccccccgga agcctcctgg
     1621 gactgtcgct ggcacagccc gaggccctga aggtggcagc acggctcagg tgccagcacc
     1681 cacagcatca ccaccgccgg agggtccagt gctcactttc cagagtgaga agatgaaggg
     1741 catgaaggag ctgctggtgg ccaccaagat caactcgagc gccatcaagc tgcaactcac
     1801 ggcacagtcg caagtgcaga tgaagaagca gaaagtgtcc acccctagtg actacactct
     1861 gtctttcctc aagcggcagc gcaaaggcct ctgaactact ggggacttcg gaccgcttgt
     1921 ggggacccag gctccgccct tagtccccca actctgagcc catgttctgc ccccagccca
     1981 aaggggacag gcctcacctc tacccaaacc ctaggttccc ggtcccgagt acagtctgta
     2041 tcaaacccac gattttctcc agctcagaac ccagggctct gccccagtcg ttagaatata
     2101 ggtctcttct cccagaatcc cagccggcca atggaaacct cacgctgggt cctaattacc
     2161 agtctttaaa ggcccagccc ctagaaaccc aagctcctcc tcggaaccgc tcacctagag
     2221 ccagaccaac gttactcagg gctcctccca gcttgtagga gctgaggttt cacccttaac
     2281 ccaaggagca caggtcccac ctccagcccg ggagcctagg accactcagc ccctaggagt
     2341 atatttccgc acttcagaat tccatatctt gcgaatccaa gctccctgcc ccaaataact
     2401 tcagtcctgc tccagaattt ggaaatccta gtttcctctc cttcgtatcc cgagtctggg
     2461 acacaaaact ccgcccccag cctatgagca tcctgagccc cgccctcttc ctgacgaaac
     2521 tggccccgga tcagagcagg acctcccttc cgaccctctg ggaacctccc agaggtccag
     2581 cccatctcgg agcatcccgg aggaaatctg cagagggtta ggagtgggtg acaagagcct
     2641 gatctcttcc tgttttgtac atagatttat ttttcagttc caagaaagat gaatacattt
     2701 tgttaaaaaa aa
//
