LOCUS       NM_001009894            2829 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens RNA 5'-phosphate and 3'-OH ligase 1 (RLIG1), mRNA.
ACCESSION   NM_001009894 XM_495929
VERSION     NM_001009894.3
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 2829)
  AUTHORS   Yuan,Y., Stumpf,F.M., Schlor,L.A., Schmidt,O.P., Saumer,P.,
            Huber,L.B., Frese,M., Hollmuller,E., Scheffner,M., Stengel,F.,
            Diederichs,K. and Marx,A.
  TITLE     Chemoproteomic discovery of a human RNA ligase
  JOURNAL   Nat Commun 14 (1), 842 (2023)
   PUBMED   36792600
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2829)
  AUTHORS   Goldstein,J.I., Jarskog,L.F., Hilliard,C., Alfirevic,A., Duncan,L.,
            Fourches,D., Huang,H., Lek,M., Neale,B.M., Ripke,S., Shianna,K.,
            Szatkiewicz,J.P., Tropsha,A., van den Oord,E.J., Cascorbi,I.,
            Dettling,M., Gazit,E., Goff,D.C., Holden,A.L., Kelly,D.L.,
            Malhotra,A.K., Nielsen,J., Pirmohamed,M., Rujescu,D., Werge,T.,
            Levy,D.L., Josiassen,R.C., Kennedy,J.L., Lieberman,J.A., Daly,M.J.
            and Sullivan,P.F.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK095477.1, CR936776.1, BC058014.1 and AL049382.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001009894.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX640968.1, AK095477.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356891.4/ ENSP00000349358.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-824               AK095477.1         46-869
            825-922             CR936776.1         859-956
            923-1116            BC058014.1         833-1026
            1117-2820           AK095477.1         1162-2865
            2821-2829           AL049382.1         1592-1600
FEATURES             Location/Qualifiers
     source          1..2829
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.32"
     gene            1..2829
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /note="RNA 5'-phosphate and 3'-OH ligase 1"
                     /db_xref="GeneID:91298"
                     /db_xref="HGNC:HGNC:25322"
     exon            1..203
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1091
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /EC_number="6.5.1.3"
                     /note="uncharacterized protein C12orf29; RNA ligase"
                     /codon_start=1
                     /product="RNA ligase 1"
                     /protein_id="NP_001009894.2"
                     /db_xref="CCDS:CCDS31866.1"
                     /db_xref="GeneID:91298"
                     /db_xref="HGNC:HGNC:25322"
                     /translation="MKRLGSVQRKMPCVFVTEVKEEPSSKREHQPFKVLATETVSHKA
                     LDADIYSAIPTEKVDGTCCYVTTYKDQPYLWARLDRKPNKQAEKRFKNFLHSKENPKE
                     FFWNVEEDFKPAPECWIPAKETEQINGNPVPDENGHIPGWVPVEKNNKQYCWHSSVVN
                     YEFEIALVLKHHPDDSGLLEISAVPLSDLLEQTLELIGTNINGNPYGLGSKKHPLHLL
                     IPHGAFQIRNLPSLKHNDLVSWFEDCKEGKIEGIVWHCSDGCLIKVHRHHLGLCWPIP
                     DTYMNSRPVIINMNLNKCDSAFDIKCLFNHFLKIDNQKFVRLKDIIFDV"
     exon            204..321
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /inference="alignment:Splign:2.1.0"
     exon            322..417
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /inference="alignment:Splign:2.1.0"
     exon            418..534
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /inference="alignment:Splign:2.1.0"
     exon            535..732
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /inference="alignment:Splign:2.1.0"
     exon            733..902
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /inference="alignment:Splign:2.1.0"
     exon            903..2829
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2807..2812
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /note="hexamer: AATAAA"
     polyA_site      2829
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /note="major polyA site"
ORIGIN      
        1 gcggagtgtg cgtggcctga gccgtgcggg tgactgcttc agggcttctc cgcgactgga
       61 ccgggcgccg ctcgaaagca cgccctccat tcgcactgct tgttgggctc atcatgaagc
      121 gcttgggctc cgtgcagcgg aaaatgccgt gtgtgtttgt gacggaggtg aaagaggagc
      181 cttcctccaa aagggagcat cagccattta aagttttggc aactgaaact gtaagtcaca
      241 aggcattaga tgcagatata tacagtgcaa ttccaacaga aaaagtggat ggaacatgtt
      301 gttatgttac tacctataaa gatcagccat acctttgggc tcgactagat agaaaaccca
      361 acaaacaagc tgaaaaaaga tttaaaaatt ttctacattc aaaagaaaac ccaaaagaat
      421 ttttttggaa cgttgaggag gacttcaaac cagctccgga gtgctggata ccagcaaagg
      481 agacagaaca aataaatggg aacccagtgc ctgatgaaaa tggacacatt cctggttggg
      541 taccagtaga gaaaaacaac aaacagtatt gctggcattc ctctgtagtt aattatgaat
      601 ttgaaattgc cctggtacta aaacatcatc ctgatgattc tggacttttg gaaattagtg
      661 cagtgccact ttcagatctc ttagaacaaa cactggaact cataggaaca aatatcaatg
      721 gaaacccata tgggttaggg agcaagaaac atccattaca tcttcttata ccacatggag
      781 catttcaaat aagaaatcta ccttcattga agcacaatga tctcgtgtcc tggtttgaag
      841 attgcaaaga gggtaaaatt gaaggaatag tgtggcattg cagtgatggc tgtttaataa
      901 aggtccatcg ccatcatctt ggcttatgct ggccaattcc agatacttac atgaattcaa
      961 gaccagttat tatcaacatg aacctgaaca aatgtgactc tgcctttgat attaagtgtt
     1021 tgtttaatca ttttttaaaa atagataatc agaaatttgt tagactcaaa gatataatat
     1081 ttgatgtata aaatgcaaat aaaattagtt tatcattata ttctaatctt gaatattcta
     1141 ccatatttaa aaatatctca aggtttctgt tcattatgaa acatcaatat gttttctacc
     1201 atttgtgaag aaatgaattt tccagtttca agtacctatt caaaatttta ttaaaaacca
     1261 gcaaattaat tttaatctct agccataaaa acataagtaa tagtaagctc ctaagcttgg
     1321 acaaaggctg gattctcttc actataactg agtggtaatt taaagacaac aatttaatgt
     1381 cactaatttt caaaattaaa tagtttaagc tcaatttaat tttgctagat atttaacaaa
     1441 acatacggct caacctcata acctatatgt gtgtatgtct acatctgtgt atatatcata
     1501 ggatttgaga atcttaacac atgtataaat aagtatatat aaactccaat tttaaatctt
     1561 aaaattgctg aatttaccct catattcttt aaaaaactta aagcattatg aatgtagaga
     1621 aattcaccag agctcactgc ctatttgatg gctgtaacaa gtcttcaagt atatactttt
     1681 ataataagtt gaaaatttca tataatttta tttattaaga attccaatct aagtataaag
     1741 gtacaaggta gtgagaagga aatactacag ttcggagaac tgcttatttc caagtatatt
     1801 taacttataa agttaataaa tagttaaatg aaacaaagtt tataggtgac ctttagtaaa
     1861 tggggaaatt aacaggactt tcttcttcat cttcaaactc ttcagaagca gcaacagggc
     1921 tagttaattc aactcccaat tgttctgaaa gtttttttac cttctcttct aagagaatat
     1981 tcttcttcac ttcttccttg taattatact taagatcttc aatttcttca aaaaatgaag
     2041 gatcaaaatt ttccagttct tttttcagct tctttatttc ctcctaatgg aaacattatc
     2101 tttaaaagtt gcatatagga aatatacata ttttacgttt gaacaaggag atttaattgt
     2161 aaatatgaaa gccaaagtat tcctgaatgg tcaaatacag caataaaggc agaagaatta
     2221 agatttttct ttgttccatt gtacagtgta aataactaag ttgttaactg tcaagtccag
     2281 ttatgtattc tgtaagttgt gttctagtct ttgactaaaa tttatcatct cttataatgg
     2341 gacttaatct ttctctaaaa gcatataaga gcttgtcaat agagcaatca atcaaaaaga
     2401 ttttgtgatt cataacattg aagttagtct ggttaagagt tttggtttag acttcattta
     2461 tattttcctt actaatatct aatatttaat gaataatgat caatttttta taaagttatt
     2521 aatatgatca gggaaacctt tgggacttct gacaggcatc tggtgaagag acaattcaag
     2581 ccttagtgac tatttagaat agccagtgat cactagctaa ttctcatatc catgcctttt
     2641 tgtcctgttt acagtcttaa aagaggtaaa acagcaaata tttttttaag ggaactataa
     2701 ccttaggatt cctgaaaaga atttcaaaaa aaaaataaag acactgttgc caatgtgacc
     2761 caaaacttaa gaacatacta atggcatata tttgttacaa ttaaaaaata aatttactac
     2821 ttaatccta
//
