LOCUS       NM_001084393            1582 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens D-dopachrome tautomerase like (DDTL), mRNA.
ACCESSION   NM_001084393
VERSION     NM_001084393.2
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 1582)
  AUTHORS   Florez-Sampedro,L., Brandsma,C.A., de Vries,M., Timens,W.,
            Bults,R., Vermeulen,C.J., van den Berge,M., Obeidat,M., Joubert,P.,
            Nickle,D.C., Poelarends,G.J., Faiz,A. and Melgert,B.N.
  TITLE     Genetic regulation of gene expression of MIF family members in lung
            tissue
  JOURNAL   Sci Rep 10 (1), 16980 (2020)
   PUBMED   33046825
  REMARK    GeneRIF: Genetic regulation of gene expression of MIF family
            members in lung tissue.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1582)
  AUTHORS   Nakamura,T., Ohnuma,T., Hanzawa,R., Takebayashi,Y., Takeda,M.,
            Nishimon,S., Sannohe,T., Katsuta,N., Higashiyama,R., Shibata,N. and
            Arai,H.
  TITLE     Associations of common copy number variants in glutathione
            S-transferase mu 1 and D-dopachrome tautomerase-like protein genes
            with risk of schizophrenia in a Japanese population
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 168 (7), 630-636 (2015)
   PUBMED   26175060
  REMARK    GeneRIF: Authors performed genetic case-control CNV analyses to
            test for possible associations between schizophrenia and CNVs for
            the three genes GSTT1, DDTL, and GSTM1 in Japanese patients.
REFERENCE   3  (bases 1 to 1582)
  AUTHORS   Chambers,J.C., Zhang,W., Sehmi,J., Li,X., Wass,M.N., Van der
            Harst,P., Holm,H., Sanna,S., Kavousi,M., Baumeister,S.E.,
            Coin,L.J., Deng,G., Gieger,C., Heard-Costa,N.L., Hottenga,J.J.,
            Kuhnel,B., Kumar,V., Lagou,V., Liang,L., Luan,J., Vidal,P.M., Mateo
            Leach,I., O'Reilly,P.F., Peden,J.F., Rahmioglu,N., Soininen,P.,
            Speliotes,E.K., Yuan,X., Thorleifsson,G., Alizadeh,B.Z.,
            Atwood,L.D., Borecki,I.B., Brown,M.J., Charoen,P., Cucca,F.,
            Das,D., de Geus,E.J., Dixon,A.L., Doring,A., Ehret,G.,
            Eyjolfsson,G.I., Farrall,M., Forouhi,N.G., Friedrich,N.,
            Goessling,W., Gudbjartsson,D.F., Harris,T.B., Hartikainen,A.L.,
            Heath,S., Hirschfield,G.M., Hofman,A., Homuth,G., Hypponen,E.,
            Janssen,H.L., Johnson,T., Kangas,A.J., Kema,I.P., Kuhn,J.P.,
            Lai,S., Lathrop,M., Lerch,M.M., Li,Y., Liang,T.J., Lin,J.P.,
            Loos,R.J., Martin,N.G., Moffatt,M.F., Montgomery,G.W., Munroe,P.B.,
            Musunuru,K., Nakamura,Y., O'Donnell,C.J., Olafsson,I.,
            Penninx,B.W., Pouta,A., Prins,B.P., Prokopenko,I., Puls,R.,
            Ruokonen,A., Savolainen,M.J., Schlessinger,D., Schouten,J.N.,
            Seedorf,U., Sen-Chowdhry,S., Siminovitch,K.A., Smit,J.H.,
            Spector,T.D., Tan,W., Teslovich,T.M., Tukiainen,T.,
            Uitterlinden,A.G., Van der Klauw,M.M., Vasan,R.S., Wallace,C.,
            Wallaschofski,H., Wichmann,H.E., Willemsen,G., Wurtz,P., Xu,C.,
            Yerges-Armstrong,L.M., Abecasis,G.R., Ahmadi,K.R., Boomsma,D.I.,
            Caulfield,M., Cookson,W.O., van Duijn,C.M., Froguel,P., Matsuda,K.,
            McCarthy,M.I., Meisinger,C., Mooser,V., Pietilainen,K.H.,
            Schumann,G., Snieder,H., Sternberg,M.J., Stolk,R.P., Thomas,H.C.,
            Thorsteinsdottir,U., Uda,M., Waeber,G., Wareham,N.J.,
            Waterworth,D.M., Watkins,H., Whitfield,J.B., Witteman,J.C.,
            Wolffenbuttel,B.H., Fox,C.S., Ala-Korpela,M., Stefansson,K.,
            Vollenweider,P., Volzke,H., Schadt,E.E., Scott,J., Jarvelin,M.R.,
            Elliott,P. and Kooner,J.S.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure
            (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits
            Consortium (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1582)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 1582)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1582)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   7  (bases 1 to 1582)
  AUTHORS   Coggan,M., Whitbread,L., Whittington,A. and Board,P.
  TITLE     Structure and organization of the human theta-class glutathione
            S-transferase and D-dopachrome tautomerase gene complex
  JOURNAL   Biochem J 334 (Pt 3) (Pt 3), 617-623 (1998)
   PUBMED   9729470
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB157727.1, AC253536.1 and AI686044.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001084393.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296110.1, SRR3476690.165579.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215770.6/ ENSP00000215770.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DB157727.1         51-64
            15-135              AC253536.1         10870-10990
            136-311             AC253536.1         11354-11529
            312-1558            AC253536.1         15254-16500
            1559-1582           AI686044.1         10-33               c
FEATURES             Location/Qualifiers
     source          1..1582
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..1582
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /note="D-dopachrome tautomerase like"
                     /db_xref="GeneID:100037417"
                     /db_xref="HGNC:HGNC:33446"
     exon            1..135
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..432
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /EC_number="4.1.1.-"
                     /note="D-dopachrome tautomerase-like protein; D-dopachrome
                     decarboxylase; Phenylpyruvate tautomerase II"
                     /codon_start=1
                     /product="D-dopachrome decarboxylase-like protein"
                     /protein_id="NP_001077862.1"
                     /db_xref="CCDS:CCDS42988.1"
                     /db_xref="GeneID:100037417"
                     /db_xref="HGNC:HGNC:33446"
                     /translation="MPFLELDTNLPANRVPAGLEKRLCAAAASILGKPADRVNVTVRP
                     GLAMALSGSTEPCAQLSISSIGVVGTAEDNRSHSAHFFEFLTKELALGQDRFPTVLST
                     SPAAHGGPRCPGEIIEGKKSCLNEEALFIYFI"
     exon            136..311
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /inference="alignment:Splign:2.1.0"
     exon            312..1582
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      578..583
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /note="hexamer: CATAAA"
     polyA_site      598
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /note="major polyA site"
     regulatory      1560..1565
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /note="hexamer: AATAAA"
     polyA_site      1582
                     /gene="DDTL"
                     /gene_synonym="DDT; KB-226F1.2"
                     /note="major polyA site"
ORIGIN      
        1 agagctgttt ccgttcctct gcccgccatg ccgttcctgg agctggacac gaatttgccc
       61 gccaaccgag tgcccgcggg gctggagaaa cgactctgcg ccgccgctgc ctccatcctg
      121 ggcaaacctg cggaccgcgt gaacgtgacg gtacggccgg gcctggccat ggcgctgagc
      181 gggtccaccg agccctgcgc gcagctgtcc atctcctcca tcggcgtagt gggcaccgcc
      241 gaggacaacc gcagccacag cgcccacttc tttgagtttc tcaccaagga gctagccctg
      301 ggccaggacc ggttccctac ggtcttatcc accagccctg ctgcccatgg tggccccaga
      361 tgcccaggag agataataga aggtaagaag tcatgtttga atgaggaagc tctcttcatt
      421 tatttcatat gaggatgaag aagaggatta tgtgatcaca ggaatgttgc atgcgggata
      481 atccaaagct ggttatctcc aggccctcac tctgccaaga gatctctctg gaagaagcag
      541 ccagttcaca gatgccctgg atccctccgt gcccaatcat aaaaaagtca tgaccgtccc
      601 tatcttgcca atctgccagg actccaaggg gaaaaagcgg ataagtatcc ttcaggagac
      661 agagaaaaag atatcatcag ctccttggct aataccacat cttgcaagac ccctgccagg
      721 tactcccact gtgggtactc aggacagcct gcctcagtcc accaggcatt ttgcaaacct
      781 gctcatccca ataatgattt tccccaaccc ccagcagggc agtgggacac tcaggtgtgg
      841 gaggtagccg cacatcatga cccagctagg acagacacac aatacagtag cctcggtgtg
      901 tgtgccgtac actctatcat ctccatcagt ttgtgtactg aggggtaccc tgcctcctaa
      961 ttgcaggctc cctaagggca cagtacctca gccacctgtt ttctcaaagg ctgagcacag
     1021 ggtgaccccc caccccacca accccgccac taatgtctgg gccataagtg aacatgcccc
     1081 tctcagaggt aacagcaagt ttccagtgag gaaaaccaga acttgggaca gcctggttgg
     1141 ggcgggcggg agtatgaaca gcctgtcttc tcatcataaa attggcataa tggagattat
     1201 ctacctcatg gggatagcat gtcttgtctg agcaaaggga gagtggatag ggattgtaag
     1261 gatcaaatgg gatcatgagt gtaaagtacc tgtagaggac ctagcacatg gtaagtgtat
     1321 aacacttgtt gttagagtaa cagttttccc tgagtatccg tgggagattt gttctagaat
     1381 ccccagagga aaccagaatc tacatttgct caagtccctt acataaaatg gtgtaatatt
     1441 tgcatgtaac ctacacacat cctctcatat actttaaata atctctgggt tacttataat
     1501 acctaatata atgtacgtac tatgtaaata gttgtattgt ttagggaata atgacaagga
     1561 ataaagtcta tacgtatttt ca
//
