LOCUS       NM_018944               1546 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens MIS18 kinetochore protein A (MIS18A), mRNA.
ACCESSION   NM_018944
VERSION     NM_018944.3
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 1546)
  AUTHORS   Sun,S.Y., Hu,X.T., Yu,X.F., Zhang,Y.Y., Liu,X.H., Liu,Y.H.,
            Wu,S.H., Li,Y.Y., Cui,S.X. and Qu,X.J.
  TITLE     Nuclear translocation of ATG5 induces DNA mismatch repair
            deficiency (MMR-D)/microsatellite instability (MSI) via interacting
            with Mis18alpha in colorectal cancer
  JOURNAL   Br J Pharmacol 178 (11), 2351-2369 (2021)
   PUBMED   33645631
  REMARK    GeneRIF: Nuclear translocation of ATG5 induces DNA mismatch repair
            deficiency (MMR-D)/microsatellite instability (MSI) via interacting
            with Mis18alpha in colorectal cancer.
REFERENCE   2  (bases 1 to 1546)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1546)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1546)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1546)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1546)
  AUTHORS   Camargo,L.M., Collura,V., Rain,J.C., Mizuguchi,K., Hermjakob,H.,
            Kerrien,S., Bonnert,T.P., Whiting,P.J. and Brandon,N.J.
  TITLE     Disrupted in Schizophrenia 1 Interactome: evidence for the close
            connectivity of risk genes and a potential synaptic basis for
            schizophrenia
  JOURNAL   Mol Psychiatry 12 (1), 74-86 (2007)
   PUBMED   17043677
REFERENCE   7  (bases 1 to 1546)
  AUTHORS   Ye,X.X., Lu,H., Yu,Y., Ding,N., Zhang,N.L., Huo,K.K., Wan,D.F.,
            Li,Y.Y. and Gu,J.R.
  TITLE     P5644 interacts with phosphatidylinositol-4-phosphate adaptor
            protein-1 associated protein-1
  JOURNAL   Mol Cell Biochem 271 (1-2), 151-158 (2005)
   PUBMED   15881666
  REMARK    GeneRIF: it is suggested that pp5644 physically bind to FASP1
REFERENCE   8  (bases 1 to 1546)
  AUTHORS   Gardiner,K., Slavov,D., Bechtel,L. and Davisson,M.
  TITLE     Annotation of human chromosome 21 for relevance to Down syndrome:
            gene structure and expression analysis
  JOURNAL   Genomics 79 (6), 833-843 (2002)
   PUBMED   12036298
REFERENCE   9  (bases 1 to 1546)
  AUTHORS   Dowler,S., Currie,R.A., Campbell,D.G., Deak,M., Kular,G.,
            Downes,C.P. and Alessi,D.R.
  TITLE     Identification of pleckstrin-homology-domain-containing proteins
            with novel phosphoinositide-binding specificities
  JOURNAL   Biochem J 351 (Pt 1), 19-31 (2000)
   PUBMED   11001876
REFERENCE   10 (bases 1 to 1546)
  AUTHORS   Slavov,D., Hattori,M., Sakaki,Y., Rosenthal,A., Shimizu,N.,
            Minoshima,S., Kudoh,J., Yaspo,M.L., Ramser,J., Reinhardt,R.,
            Reimer,C., Clancy,K., Rynditch,A. and Gardiner,K.
  TITLE     Criteria for gene identification and features of genome
            organization: analysis of 6.5 Mb of DNA sequence from human
            chromosome 21
  JOURNAL   Gene 247 (1-2), 215-232 (2000)
   PUBMED   10773462
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB959520.1, BU616573.1, AK075281.1, BU567844.1 and AW962893.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018944.2.
            
            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 :: SRR5189658.199892.1,
                                           SRR1163655.36739.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290130.4/ ENSP00000290130.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 CB959520.1         67-67
            2-436               BU616573.1         21-455
            437-844             AK075281.1         425-832
            845-968             BU567844.1         427-550
            969-999             AW962893.1         439-469
            1000-1546           AK075281.1         990-1536
FEATURES             Location/Qualifiers
     source          1..1546
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..1546
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /note="MIS18 kinetochore protein A"
                     /db_xref="GeneID:54069"
                     /db_xref="HGNC:HGNC:1286"
                     /db_xref="MIM:618137"
     exon            1..369
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..737
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /note="FAPP1-associated protein 1; MIS18 kinetochore
                     protein homolog A"
                     /codon_start=1
                     /product="protein Mis18-alpha"
                     /protein_id="NP_061817.1"
                     /db_xref="CCDS:CCDS13611.1"
                     /db_xref="GeneID:54069"
                     /db_xref="HGNC:HGNC:1286"
                     /db_xref="MIM:618137"
                     /translation="MAGVRSLRCSRGCAGGCECGDKGKCSDSSLLGKRLSEDSSRHQL
                     LQKWASMWSSMSEDASVADMERAQLEEEAAAAEERPLVFLCSGCRRPLGDSLSWVASQ
                     EDTNCILLRCVSCNVSVDKEQKLSKREKENGCVLETLCCAGCSLNLGYVYRCTPKNLD
                     YKRDLFCLSVEAIESYVLGSSEKQIVSEDKELFNLESRVEIEKSLTQMEDVLKALQMK
                     LWEAESKLSFATCKS"
     exon            370..436
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /inference="alignment:Splign:2.1.0"
     exon            437..559
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /inference="alignment:Splign:2.1.0"
     exon            560..656
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /inference="alignment:Splign:2.1.0"
     exon            657..1546
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1529..1534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /note="hexamer: AATAAA"
     polyA_site      1546
                     /gene="MIS18A"
                     /gene_synonym="B28; C21orf45; C21orf46; FASP1;
                     hMis18alpha; MIS18alpha"
                     /note="major polyA site"
ORIGIN      
        1 ccatggcgct ctggggcgcg ggcgatttgt aggtaatggc aggcgttcgg tcactgaggt
       61 gtagcagagg atgcgctggc ggctgtgagt gcggcgacaa gggcaaatgc agcgactcct
      121 cgctgttggg caagagactc tccgaagact cgagccgcca ccagctgttg cagaagtggg
      181 cgagcatgtg gagctccatg agcgaagacg cgtcggtggc cgacatggag agggcgcagc
      241 tggaggagga ggcggcggct gcggaggaga ggccgctggt gttcctgtgc tccggctgcc
      301 ggcggccgct gggcgactcg ctgagctggg tggccagcca ggaggacacc aactgcatcc
      361 tgcttcgctg tgtttcctgt aatgtttctg tggataagga acagaagcta tccaaacgtg
      421 aaaaggaaaa tggttgcgtc cttgagactt tgtgctgcgc ggggtgctca ctcaatcttg
      481 gctacgtgta cagatgcacg cccaagaatc ttgattacaa gagagacttg ttttgcctca
      541 gtgttgaagc cattgaaagt tatgttttag ggtcctctga aaagcaaatt gtgtcagaag
      601 ataaagagct ttttaatctt gaaagcagag ttgaaataga aaagtctcta acacagatgg
      661 aagatgtctt gaaagcatta caaatgaagc tgtgggaggc cgaatccaaa ttgtcctttg
      721 ccacttgtaa aagctgaact ctagtctgtg tcctccattc tgcccccgcc cttcctcccc
      781 ttatttgtta aatgaagcaa catagtgaga cgtcgtctct acaaaaaaaa aaagaaaaaa
      841 aaaattagcc aggcatgcga aacgctgagg tgggaggatc agatgagctt gggaggttga
      901 ggctgcagtg agccttggtc atgccactac tgtgttctag tctgggcaac agagtgagac
      961 cttctctcaa aaaaaaaacc caaaattgta gaattacttc tatagctata ttttatgata
     1021 aagaagtgat tgtttctcaa aatcgcattt taaagacgtt ttatggtact tgttggaatt
     1081 gggacttagg agttttgatt ttgataagaa actgggataa ttttctgaac tttttttcct
     1141 ctgtatcaca tttatttact atttttaaaa actttgacat ttaacacttg ggacaacatt
     1201 tattataaat gataagaaaa atcttagagg tttgtctacc cacagtgtca tggaatcttc
     1261 tctgaaaact aatccataaa gttccctgga gaaattggtc agaatgatct gtcagaacca
     1321 tttgaaaact tgctcaagag cagttgctta tatatagtag gattttactt tttcctgctt
     1381 atgtactact atatgcttaa aaaacctgga ggaatactta ccaaagagga gtaaccatct
     1441 ctgagggtgg gattctgggg gaatttttgt ttttttctgt tttctataat gtgaaacttt
     1501 tgtagtatgt atttttctaa ttgaagagaa taaagattaa aacaaa
//
