LOCUS       NM_001080510            1128 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens methyltransferase 23, arginine (METTL23), transcript
            variant 1, mRNA.
ACCESSION   NM_001080510 XM_497558
VERSION     NM_001080510.5
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 1128)
  AUTHORS   Khan,A., Miao,Z., Umair,M., Ullah,A., Alshabeeb,M.A., Bilal,M.,
            Ahmad,F., Rappold,G.A., Ansar,M. and Carapito,R.
  TITLE     Two Cases of Recessive Intellectual Disability Caused by NDST1 and
            METTL23 Variants
  JOURNAL   Genes (Basel) 11 (9), 1021 (2020)
   PUBMED   32878022
  REMARK    GeneRIF: Two Cases of Recessive Intellectual Disability Caused by
            NDST1 and METTL23 Variants.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1128)
  AUTHORS   Smaili,W., Elalaoui,S.C., Zrhidri,A., Raymond,L., Egea,G.,
            Taoudi,M., Mouatassim,S.E.L., Sefiani,A. and Lyahyai,J.
  TITLE     Exome sequencing revealed a novel homozygous METTL23 gene mutation
            leading to familial mild intellectual disability with dysmorphic
            features
  JOURNAL   Eur J Med Genet 63 (7), 103951 (2020)
   PUBMED   32439618
  REMARK    GeneRIF: Exome sequencing revealed a novel homozygous METTL23 gene
            mutation leading to familial mild intellectual disability with
            dysmorphic features.
REFERENCE   3  (bases 1 to 1128)
  AUTHORS   Almannai,M., Obaid,O., Faqeih,E., Alasmari,A., Samman,M.M.,
            Pinz,H., Braddock,S.R. and Alkuraya,F.S.
  TITLE     Further delineation of METTL23-associated intellectual disability
  JOURNAL   Am J Med Genet A 182 (4), 785-791 (2020)
   PUBMED   32067349
  REMARK    GeneRIF: Further delineation of METTL23-associated intellectual
            disability.
REFERENCE   4  (bases 1 to 1128)
  AUTHORS   Bernkopf,M., Webersinke,G., Tongsook,C., Koyani,C.N., Rafiq,M.A.,
            Ayaz,M., Muller,D., Enzinger,C., Aslam,M., Naeem,F., Schmidt,K.,
            Gruber,K., Speicher,M.R., Malle,E., Macheroux,P., Ayub,M.,
            Vincent,J.B., Windpassinger,C. and Duba,H.C.
  TITLE     Disruption of the methyltransferase-like 23 gene METTL23 causes
            mild autosomal recessive intellectual disability
  JOURNAL   Hum Mol Genet 23 (15), 4015-4023 (2014)
   PUBMED   24626631
  REMARK    GeneRIF: METTL23 mutations cause mild nonsyndromic autosomal
            recessive intellectual disability in two unrelated families, one
            from Austria, the other from Pakistan.
REFERENCE   5  (bases 1 to 1128)
  AUTHORS   Reiff,R.E., Ali,B.R., Baron,B., Yu,T.W., Ben-Salem,S.,
            Coulter,M.E., Schubert,C.R., Hill,R.S., Akawi,N.A., Al-Younes,B.,
            Kaya,N., Evrony,G.D., Al-Saffar,M., Felie,J.M., Partlow,J.N.,
            Sunu,C.M., Schembri-Wismayer,P., Alkuraya,F.S., Meyer,B.F.,
            Walsh,C.A., Al-Gazali,L. and Mochida,G.H.
  TITLE     METTL23, a transcriptional partner of GABPA, is essential for human
            cognition
  JOURNAL   Hum Mol Genet 23 (13), 3456-3466 (2014)
   PUBMED   24501276
  REMARK    GeneRIF: METTL23, a transcriptional partner of GABPA, is essential
            for human cognition
REFERENCE   6  (bases 1 to 1128)
  AUTHORS   Cloutier,P., Lavallee-Adam,M., Faubert,D., Blanchette,M. and
            Coulombe,B.
  TITLE     A newly uncovered group of distantly related lysine
            methyltransferases preferentially interact with molecular
            chaperones to regulate their activity
  JOURNAL   PLoS Genet 9 (1), e1003210 (2013)
   PUBMED   23349634
REFERENCE   7  (bases 1 to 1128)
  AUTHORS   Tsuritani,K., Irie,T., Yamashita,R., Sakakibara,Y., Wakaguri,H.,
            Kanai,A., Mizushima-Sugano,J., Sugano,S., Nakai,K. and Suzuki,Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY093122.1, AL522160.3,
            BC045819.1, BC106939.2 and HY285382.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 10, 2020 this sequence version replaced NM_001080510.4.
            
            Summary: The protein encoded by this gene functions as a
            transcription factor regulator in the transcriptional pathway for
            human cognition. It is a partner of the alpha subunit of the
            GA-binding protein transcription factor. Mutations in this gene
            cause mild autosomal recessive intellectual disability. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Nov 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC045819.1, SRR18074968.4249568.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341249.11/ ENSP00000341543.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                HY093122.1         11-37
            28-350              AL522160.3         22-344
            351-773             BC045819.1         322-744
            774-934             BC106939.2         306-466
            935-1128            HY285382.1         33-226              c
FEATURES             Location/Qualifiers
     source          1..1128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1128
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /note="methyltransferase 23, arginine"
                     /db_xref="GeneID:124512"
                     /db_xref="HGNC:HGNC:26988"
                     /db_xref="MIM:615262"
     exon            1..340
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /inference="alignment:Splign:2.1.0"
     exon            341..445
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /inference="alignment:Splign:2.1.0"
     CDS             362..934
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /EC_number="2.1.1.319"
                     /note="isoform 1 is encoded by transcript variant 1;
                     methyltransferase-like protein 23; spike binding protein
                     1; probable methyltransferase-like protein 23;
                     histone-arginine methyltransferase METTL23;
                     methyltransferase like 23"
                     /codon_start=1
                     /product="histone-arginine methyltransferase METTL23
                     isoform 1"
                     /protein_id="NP_001073979.3"
                     /db_xref="CCDS:CCDS45787.1"
                     /db_xref="GeneID:124512"
                     /db_xref="HGNC:HGNC:26988"
                     /db_xref="MIM:615262"
                     /translation="MYVWPCAVVLAQYLWFHRRSLPGKAILEIGAGVSLPGILAAKCG
                     AEVILSDSSELPHCLEVCRQSCQMNNLPHLQVVGLTWGHISWDLLALPPQDIILASDV
                     FFEPEDFEDILATIYFLMHKNPKVQLWSTYQVRSADWSLEALLYKWDMKCVHIPLESF
                     DADKEDIAESTLPGRHTVEMLVISFAKDSL"
     exon            446..683
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /inference="alignment:Splign:2.1.0"
     exon            684..768
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /inference="alignment:Splign:2.1.0"
     exon            769..1128
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1100..1105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /note="hexamer: AACAAA"
     regulatory      1107..1112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /note="hexamer: ATTAAA"
     polyA_site      1107
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
     polyA_site      1128
                     /gene="METTL23"
                     /gene_synonym="C17orf95; MRT44"
                     /note="major polyA site"
ORIGIN      
        1 acttccggtc gcgccagccg cccgttgcca gttctgcgcg tgtgagtctc tttcgccttg
       61 ctccgggctt tcttcgctcg cagcgcggca gggttatcac cagatctggg ctttcccctt
      121 cttgccgtca ggtgctacgg ccacgtggcc cgcggcttcc cgctcgcgca gtctggcagc
      181 ccggagcctt ccgcggtccc ccgcccgccc ggggcccaac gacgccctac tgggcgagca
      241 cgatttccga ggacaggggg tccgggccca gcgctttcga ttctcggagg agccgggtcc
      301 gggggccgac ggggctgtcc tggaggtcca cgtcccgcag gtcctgcatc tccagtatgg
      361 aatgtatgtt tggccctgtg ctgtggtcct ggcccagtac ctttggtttc acagaagatc
      421 tctgccaggc aaggccatct tagagattgg agctggagtg agccttccag gaattttggc
      481 tgccaaatgt ggtgcagaag taatactgtc agacagctca gaactgcctc actgtctgga
      541 agtctgtcgg caaagctgcc aaatgaataa cctgccacat ctgcaggtgg taggactaac
      601 atggggtcat atatcttggg atcttctggc tctaccacca caagatatta tccttgcatc
      661 tgatgtgttc tttgaaccag aagattttga agacattttg gctacaatat attttttgat
      721 gcacaagaat cccaaggtcc aattgtggtc tacttatcaa gttaggagtg ctgactggtc
      781 acttgaagct ttactctaca aatgggatat gaaatgtgtc cacattcctc ttgagtcttt
      841 tgatgcagac aaagaagata tagcagaatc tacccttcca ggaagacata cagttgaaat
      901 gctggtcatt tcctttgcaa aggacagtct ctgaattata cctacaacct gttctgggac
      961 agtatcaata ctgatgagca acctggcaca caaactatga gcagaccact tcagcttgag
     1021 aatgcagtgg gtctgaagat ggtcaagtct gtttgcctta gattttgatg tcacctagac
     1081 aacacttaaa ctcatatgaa acaaaaatta aaatacgtat tacaagta
//
