LOCUS       NM_001013836            2695 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens mitotic arrest deficient 1 like 1 (MAD1L1), transcript
            variant 2, mRNA.
ACCESSION   NM_001013836
VERSION     NM_001013836.2
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 2695)
  AUTHORS   Glover,L., Lilly,A.G., Justice,A.E., Howard,A.G., Staley,B.S.,
            Wang,Y., Kamens,H.M., Ferrier,K., Bressler,J., Loehr,L.,
            Raffield,L.M., Sims,M., North,K.E. and Fernandez-Rhodes,L.
  TITLE     DNA methylation near MAD1L1, KDM2B, and SOCS3 mediates the effect
            of socioeconomic status on elevated body mass index in African
            American adults
  JOURNAL   Hum Mol Genet 33 (20), 1748-1757 (2024)
   PUBMED   39079086
  REMARK    GeneRIF: DNA methylation near MAD1L1, KDM2B, and SOCS3 mediates the
            effect of socioeconomic status on elevated body mass index in
            African American adults.
REFERENCE   2  (bases 1 to 2695)
  AUTHORS   Luo,H., Huang,K., Cheng,M., Long,X., Zhu,X. and Wu,M.
  TITLE     The HNF4A-CHPF pathway promotes proliferation and invasion through
            interactions with MAD1L1 in glioma
  JOURNAL   Aging (Albany NY) 15 (20), 11052-11066 (2023)
   PUBMED   37851364
  REMARK    GeneRIF: The HNF4A-CHPF pathway promotes proliferation and invasion
            through interactions with MAD1L1 in glioma.
REFERENCE   3  (bases 1 to 2695)
  AUTHORS   Trepte,P., Secker,C., Kostova,S., Maseko,S.B., Choi,S.G.,
            Blavier,J., Minia,I., Ramos,E.S., Cassonnet,P., Golusik,S.,
            Zenkner,M., Beetz,S., Liebich,M.J., Scharek,N., Schutz,A.,
            Sperling,M., Lisurek,M., Wang,Y., Spirohn,K., Hao,T.,
            Calderwood,M.A., Hill,D.E., Landthaler,M., Olivet,J., Twizere,J.C.,
            Vidal,M. and Wanker,E.E.
  TITLE     AI-guided pipeline for protein-protein interaction drug discovery
            identifies a SARS-CoV-2 inhibitor
  JOURNAL   bioRxiv (2023)
   PUBMED   37398436
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2695)
  AUTHORS   Goo,B.S., Mun,D.J., Kim,S., Nhung,T.T.M., Lee,S.B., Woo,Y.,
            Kim,S.J., Suh,B.K., Park,S.J., Lee,H.E., Park,K., Jang,H.,
            Rah,J.C., Yoon,K.J., Baek,S.T., Park,S.Y. and Park,S.K.
  TITLE     Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1)
            regulates the polarity of migrating neurons in the developing
            neocortex
  JOURNAL   Mol Psychiatry 28 (2), 856-870 (2023)
   PUBMED   36357673
  REMARK    GeneRIF: Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1)
            regulates the polarity of migrating neurons in the developing
            neocortex.
REFERENCE   5  (bases 1 to 2695)
  AUTHORS   Sokolov,A.V., Manu,D.M., Nordberg,D.O.T., Bostrom,A.D.E.,
            Jokinen,J. and Schioth,H.B.
  TITLE     Methylation in MAD1L1 is associated with the severity of suicide
            attempt and phenotypes of depression
  JOURNAL   Clin Epigenetics 15 (1), 1 (2023)
   PUBMED   36600305
  REMARK    GeneRIF: Methylation in MAD1L1 is associated with the severity of
            suicide attempt and phenotypes of depression.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2695)
  AUTHORS   Tsukasaki,K., Miller,C.W., Greenspun,E., Eshaghian,S., Kawabata,H.,
            Fujimoto,T., Tomonaga,M., Sawyers,C., Said,J.W. and Koeffler,H.P.
  TITLE     Mutations in the mitotic check point gene, MAD1L1, in human cancers
  JOURNAL   Oncogene 20 (25), 3301-3305 (2001)
   PUBMED   11423979
REFERENCE   7  (bases 1 to 2695)
  AUTHORS   Cahill,D.P., da Costa,L.T., Carson-Walter,E.B., Kinzler,K.W.,
            Vogelstein,B. and Lengauer,C.
  TITLE     Characterization of MAD2B and other mitotic spindle checkpoint
            genes
  JOURNAL   Genomics 58 (2), 181-187 (1999)
   PUBMED   10366450
REFERENCE   8  (bases 1 to 2695)
  AUTHORS   Seeley,T.W., Wang,L. and Zhen,J.Y.
  TITLE     Phosphorylation of human MAD1 by the BUB1 kinase in vitro
  JOURNAL   Biochem Biophys Res Commun 257 (2), 589-595 (1999)
   PUBMED   10198256
REFERENCE   9  (bases 1 to 2695)
  AUTHORS   Jin,D.Y., Kozak,C.A., Pangilinan,F., Spencer,F., Green,E.D. and
            Jeang,K.T.
  TITLE     Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and
            mouse chromosome 5
  JOURNAL   Genomics 55 (3), 363-364 (1999)
   PUBMED   10049595
REFERENCE   10 (bases 1 to 2695)
  AUTHORS   Jin,D.Y., Spencer,F. and Jeang,K.T.
  TITLE     Human T cell leukemia virus type 1 oncoprotein Tax targets the
            human mitotic checkpoint protein MAD1
  JOURNAL   Cell 93 (1), 81-91 (1998)
   PUBMED   9546394
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM818088.1, BC009964.2,
            AF123318.1 and BU617803.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001013836.1.
            
            Summary: MAD1L1 is a component of the mitotic spindle-assembly
            checkpoint that prevents the onset of anaphase until all chromosome
            are properly aligned at the metaphase plate. MAD1L1 functions as a
            homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell
            cycle control and tumor suppression. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-4 encode the same isoform (a).
            
            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 :: SRR11853559.28889.1,
                                           SRR11853564.24158.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265854.12/ ENSP00000265854.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-154               BM818088.1         4-157
            155-2594            BC009964.2         105-2544
            2595-2687           AF123318.1         2332-2424
            2688-2695           BU617803.1         20-27               c
FEATURES             Location/Qualifiers
     source          1..2695
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..2695
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="mitotic arrest deficient 1 like 1"
                     /db_xref="GeneID:8379"
                     /db_xref="HGNC:HGNC:6762"
                     /db_xref="MIM:602686"
     exon            1..74
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            75..253
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            254..413
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     CDS             264..2420
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="isoform a is encoded by transcript variant 2;
                     mitotic-arrest deficient 1, yeast, homolog-like 1; tumor
                     protein p53 inducible protein 9; mitotic spindle assembly
                     checkpoint protein MAD1; MAD1-like protein 1; tax-binding
                     protein 181; mitotic checkpoint MAD1 protein homolog;
                     mitotic arrest deficient 1-like protein 1; MAD1 mitotic
                     arrest deficient like 1"
                     /codon_start=1
                     /product="mitotic spindle assembly checkpoint protein MAD1
                     isoform a"
                     /protein_id="NP_001013858.1"
                     /db_xref="CCDS:CCDS43539.1"
                     /db_xref="GeneID:8379"
                     /db_xref="HGNC:HGNC:6762"
                     /db_xref="MIM:602686"
                     /translation="MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQ
                     YQQSMQLEERAEQIRSKSHLIQVEREKMQMELSHKRARVELERAASTSARNYEREVDR
                     NQELLTRIRQLQEREAGAEEKMQEQLERNRQCQQNLDAASKRLREKEDSLAQAGETIN
                     ALKGRISELQWSVMDQEMRVKRLESEKQELQEQLDLQHKKCQEANQKIQELQASQEAR
                     ADHEQQIKDLEQKLSLQEQDAAIVKNMKSELVRLPRLERELKQLREESAHLREMRETN
                     GLLQEELEGLQRKLGRQEKMQETLVGLELENERLLAKLQSWERLDQTMGLSIRTPEDL
                     SRFVVELQQRELALKDKNSAVTSSARGLEKARQQLQEELRQVSGQLLEERKKRETHEA
                     LARRLQKRVLLLTKERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSA
                     EMEAQLSQALEELGGQKQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEEL
                     EGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQA
                     ECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQT
                     KIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEF
                     SHTVGELIEVHLRRQDSIPAFLSSLTLELFSRQTVA"
     exon            414..554
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            555..734
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            735..859
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            860..941
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1072
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1187
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1249
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1336
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1481
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1622
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1623..1679
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1680..1768
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1769..1859
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            1860..2070
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            2071..2261
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     exon            2262..2695
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2675..2680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="hexamer: AATAAA"
     polyA_site      2695
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="major polyA site"
ORIGIN      
        1 gtcgcgataa atgggcgccg gcggagcgga gggagatccg agcggcggcg gcaagctggc
       61 tgcgagcggc tgagcagcac tccaagctcg ccggcctttg gtctccagga cttgtcccag
      121 cagcccctcg aactgagaat tacaccatcg gacccctggc tctgaggcct tcagacttgg
      181 actgtgtcac actgccaggc ttccagggct ccaacttgca gacggcctgt tgtgggacag
      241 tctctgtaat cgcgaaagca accatggaag acctggggga aaacaccatg gttttatcca
      301 ccctgagatc tttgaacaac ttcatctctc agcgtgtgga gggaggctct ggactggata
      361 tttctacctc ggccccaggt tctctgcaga tgcagtacca gcagagcatg cagctggagg
      421 aaagagcaga gcagatccgt tcgaagtccc acctcatcca ggtggagcgg gagaaaatgc
      481 agatggagct gagtcacaag agggctcgag tggagctgga gagagcagcc agcaccagtg
      541 ccaggaacta cgagcgtgag gtcgaccgca accaggagct cctgacgcgc atccggcagc
      601 ttcaggagcg ggaggccggg gcggaggaga agatgcagga gcagctggag cgcaacaggc
      661 agtgtcagca gaacttggat gctgccagca agaggctgcg tgagaaagag gacagtctgg
      721 cccaggctgg cgagaccatc aacgcactga aggggaggat ctcggaactg cagtggagcg
      781 tgatggacca ggagatgcgg gtgaagcgcc tggagtcgga gaagcaggag ctgcaggagc
      841 agctggacct gcaacacaaa aaatgccagg aagccaatca gaaaatccag gaactccagg
      901 ccagccaaga agcaagagca gaccacgagc agcagattaa ggatctggag cagaagctgt
      961 ccctgcaaga gcaggatgca gcgattgtga agaacatgaa gtctgagctg gtacggctcc
     1021 ctaggctgga acgggagctg aagcagctgc gggaggagag cgcgcacctg cgggagatga
     1081 gagagaccaa cgggctgctc caggaagagc tggaagggct gcagaggaag ctggggcgcc
     1141 aggagaagat gcaggagacg ctggttggct tggagctgga gaacgagagg ctgctggcca
     1201 agctgcaaag ctgggagaga ctggaccaga ccatgggcct gagcatcagg actccagaag
     1261 acctttccag attcgtggtt gagctgcagc agagggagct tgccttgaag gacaagaaca
     1321 gcgccgtcac cagcagcgcc cgggggctgg agaaggccag gcagcagctg caggaggagc
     1381 tccggcaggt cagcggccag ctgttggagg agaggaagaa gcgcgagacc cacgaggcgc
     1441 tggcccggag gctccagaaa cgggtcctgc tgctcaccaa ggagcgggac ggtatgcggg
     1501 ccatcctggg gtcctacgac agcgagctga ccccggccga gtactcaccc cagctgacgc
     1561 ggcgcatgcg ggaggctgag gatatggtgc agaaggtgca cagccacagc gccgagatgg
     1621 aggctcagct gtcgcaggcc ctggaggagc tgggaggcca gaaacaaaga gcagacatgc
     1681 tggagatgga gctgaagatg ctgaagtctc agtccagctc tgccgaacag agcttcctgt
     1741 tctccaggga ggaggcggac acgctcaggt tgaaggtcga ggagctggaa ggcgagcgga
     1801 gtcggctgga ggaggaaaag aggatgctgg aggcacagct ggagcggcga gctctgcagg
     1861 gtgactatga ccagagcagg accaaagtgc tgcacatgag cctgaacccc accagtgtgg
     1921 ccaggcagcg cctgcgcgag gaccacagcc agctgcaggc ggagtgcgag cgactgcgcg
     1981 ggctcctgcg cgccatggag agaggaggca ccgtcccagc cgaccttgag gctgccgccg
     2041 cgagtctgcc atcgtccaag gaggtggcag agctgaagaa gcaggtggag agtgccgagc
     2101 tgaagaacca gcggctcaag gaggttttcc agaccaagat ccaggagttc cgcaaggcct
     2161 gctacacgct caccggctac cagatcgaca tcaccacgga gaaccagtac cggctgacct
     2221 cgctgtacgc cgagcaccca ggcgactgcc tcatcttcaa ggccaccagc ccctcgggtt
     2281 ccaagatgca gctactggag acagagttct cacacaccgt gggcgagctc atcgaggtgc
     2341 acctgcggcg ccaggacagc atccctgcct tcctcagctc gctcaccctc gagctcttca
     2401 gccgccagac cgtggcgtag cctgcaggct cgggggcata gccggagcca ctctgcttgg
     2461 cctgacctgc aggtcccctg ccccgccagc cacaggctgg gtgcacgtcc tgcctctcca
     2521 gccccacagg gcagcagcat gactgacaga cacgctggga cctacgtcgg gcttcctgct
     2581 ggggcggcca gcaccctctc cacgtgcaga ccccatgcgt cccggagcct ggtgtgtggg
     2641 cgtcggccac cagcctgggt tcctcacctt gtgaaataaa atcttctccc ctaga
//
