LOCUS       NM_001354358            2559 bp    mRNA    linear   PRI 12-MAY-2024
DEFINITION  Homo sapiens glycosyltransferase like domain containing 1 (GTDC1),
            transcript variant 16, mRNA.
ACCESSION   NM_001354358
VERSION     NM_001354358.1
KEYWORDS    RefSeq.
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 2559)
  AUTHORS   Zhao,X., Ma,D., Ishiguro,K., Saito,H., Akichika,S., Matsuzawa,I.,
            Mito,M., Irie,T., Ishibashi,K., Wakabayashi,K., Sakaguchi,Y.,
            Yokoyama,T., Mishima,Y., Shirouzu,M., Iwasaki,S., Suzuki,T. and
            Suzuki,T.
  TITLE     Glycosylated queuosines in tRNAs optimize translational rate and
            post-embryonic growth
  JOURNAL   Cell 186 (25), 5517-5535 (2023)
   PUBMED   37992713
REFERENCE   2  (bases 1 to 2559)
  AUTHORS   Igo,R.P. Jr., Hall,N.B., Malone,L.L., Hall,J.B., Truitt,B., Qiu,F.,
            Tao,L., Mupere,E., Schnell,A., Hawn,T.R., Bush,W.S., Joloba,M.,
            Boom,W.H. and Stein,C.M.
  TITLE     Fine-mapping analysis of a chromosome 2 region linked to resistance
            to Mycobacterium tuberculosis infection in Uganda reveals potential
            regulatory variants
  JOURNAL   Genes Immun 20 (6), 473-483 (2019)
   PUBMED   30100616
  REMARK    GeneRIF: Genomewide linkage scan by a targeted, high-density
            association scan for genetic variants enhancing persistently
            negative tuberculin skin test (PTST) in two independent Ugandan
            tuberculosis household cohorts. Association found with SNPs in
            neighboring genes ZEB2 and GTDC1 supported by both samples.
            Bioinformatic analysis suggests these variants may affect PTST- by
            regulating the histone deacetylase pathway.
REFERENCE   3  (bases 1 to 2559)
  AUTHORS   Aksoy,I., Utami,K.H., Winata,C.L., Hillmer,A.M., Rouam,S.L.,
            Briault,S., Davila,S., Stanton,L.W. and Cacheux,V.
  TITLE     Personalized genome sequencing coupled with iPSC technology
            identifies GTDC1 as a gene involved in neurodevelopmental disorders
  JOURNAL   Hum Mol Genet 26 (2), 367-382 (2017)
   PUBMED   28365779
  REMARK    GeneRIF: By deriving iPSCs from this patient and differentiating
            them into neural progenitor cells (NPCs) and neurons we dissected
            the disease process at the cellular level and observed defects in
            both NPCs and neuronal cells. We also showed that disruption of
            GTDC1 expression in wild type human NPCs and neurons showed a
            similar phenotype as patient's iPSCs
REFERENCE   4  (bases 1 to 2559)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 2559)
  AUTHORS   Shimono,N., Nishimura,Y., Kamiguchi,H. and Nishikawa,Y.
  TITLE     Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a
            human mannosyltransferase-like gene, that is homologous to
            drosophila gene GC15914
  JOURNAL   Biosci Biotechnol Biochem 75 (8), 1451-1455 (2011)
   PUBMED   21821951
  REMARK    GeneRIF: The elevated expression of the Hmat-Xa gene (GTDC1) might
            serve as a candidate marker for colon adenocarcinoma.
REFERENCE   6  (bases 1 to 2559)
  AUTHORS   Akbari,M.R., Malekzadeh,R., Shakeri,R., Nasrollahzadeh,D.,
            Foumani,M., Sun,Y., Pourshams,A., Sadjadi,A., Jafari,E.,
            Sotoudeh,M., Kamangar,F., Boffetta,P., Dawsey,S.M., Ghadirian,P.
            and Narod,S.A.
  TITLE     Candidate gene association study of esophageal squamous cell
            carcinoma in a high-risk region in Iran
  JOURNAL   Cancer Res 69 (20), 7994-8000 (2009)
   PUBMED   19826048
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2559)
  AUTHORS   Leparc,G.G. and Mitra,R.D.
  TITLE     Non-EST-based prediction of novel alternatively spliced cassette
            exons with cell signaling function in Caenorhabditis elegans and
            human
  JOURNAL   Nucleic Acids Res 35 (10), 3192-3202 (2007)
   PUBMED   17452356
REFERENCE   8  (bases 1 to 2559)
  AUTHORS   Zhao,E., Li,Y., Fu,X., Zhang,J.Y., Zeng,H., Zeng,L., Lin,Y.,
            Chen,J., Yin,G., Qian,J., Ying,K., Xie,Y., Zhao,R.C. and Mao,Y.M.
  TITLE     Cloning and expression of human GTDC1 gene
            (glycosyltransferase-like domain containing 1) from human fetal
            library
  JOURNAL   DNA Cell Biol 23 (3), 183-187 (2004)
   PUBMED   15068588
  REMARK    GeneRIF: relatively high expression level in the adult lung,
            spleen, testis, and peripheral blood leukocyte.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009957.11 and AC010681.16.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.134917.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-105               AC009957.11        130067-130171       c
            106-167             AC009957.11        120958-121019       c
            168-232             AC009957.11        96797-96861         c
            233-434             AC009957.11        93885-94086         c
            435-602             AC009957.11        30854-31021         c
            603-776             AC009957.11        27164-27337         c
            777-2559            AC010681.16        7016-8798           c
FEATURES             Location/Qualifiers
     source          1..2559
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q22.3"
     gene            1..2559
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="glycosyltransferase like domain containing 1"
                     /db_xref="GeneID:79712"
                     /db_xref="HGNC:HGNC:20887"
                     /db_xref="MIM:610165"
     exon            1..105
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            106..167
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            168..232
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            233..434
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..1134
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /EC_number="2.4.1.110"
                     /note="isoform e is encoded by transcript variant 16;
                     glycosyltransferase-like domain-containing protein 1;
                     glycosyltransferase-like 1; mannosyltransferase candidate;
                     mannosyltransferase-like protein Xa; tRNA-queuosine
                     alpha-mannosyltransferase"
                     /codon_start=1
                     /product="tRNA-queuosine alpha-mannosyltransferase isoform
                     e"
                     /protein_id="NP_001341287.1"
                     /db_xref="GeneID:79712"
                     /db_xref="HGNC:HGNC:20887"
                     /db_xref="MIM:610165"
                     /translation="MSILIIEAFYGGSHKQLVDLLQEELGDCVVYTLPAKKWHWRART
                     SALYFSQTIPISEHYRTLFASSVLNLTELAALRPDLGKLKKILYFHENQLIYPVKKCQ
                     ERDFQYGYNQILSCLVADVVVFNSVFNMESFLTSMGKFMKLIPDHRPKDLESIIRPKC
                     QVIYFPIRFPDVSRFMPKHKTTHLKKMLGLKGNGGAVLSMALPFQPEQRDSEDLLKNF
                     NSECDTHCGLDTARQEYLGNSLRQESDLKKSTSSDNSSSHHGENKQNLTVDPCDILGG
                     VDNQQRLLHIVWPHRW"
     exon            435..602
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            603..776
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            777..2559
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2534..2539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="hexamer: AATAAA"
     polyA_site      2559
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="major polyA site"
ORIGIN      
        1 aggaaagatc ttaaggaata ttaatcctgt agtggcatca catatgaacg gtatttctca
       61 cctgtcctat catcagatga ccatctaatt tactaatttc ttatagtatc tctgcattag
      121 ccagattgga catatgtaaa gggacatcag tatatctgga tcatcagatt gtgcttcaag
      181 aagaccatag ggaagaacgc attttcatct tgctgcaaaa gttgcaatag aagatctgaa
      241 ggtttgaatg ggccaatgag tatcctcatc attgaagcat tctatggagg ctcccataaa
      301 cagctggtgg atcttcttca agaagagtta ggagactgtg tcgtttatac ccttcctgca
      361 aagaaatggc attggagagc ccggacatct gctttatatt tctctcagac cattcccatc
      421 agtgagcatt acaggaccct ctttgcaagt tcagtgctta acctgaccga actggctgcc
      481 cttcggcctg accttgggaa actgaaaaag attctgtatt ttcacgagaa ccagttgata
      541 tatcctgtca agaaatgtca ggagagggat ttccaatatg gatacaacca aattctttca
      601 tgcctggtgg ctgatgtggt tgtattcaac tcagttttta atatggaatc atttctcact
      661 tccatgggaa aatttatgaa gctgattcct gatcacagac ccaaggatct ggaaagcatc
      721 atcagaccca agtgccaagt tatttacttt cccatcaggt ttcctgatgt gagcagattc
      781 atgcccaagc acaaaacaac ccatttaaag aagatgctcg gccttaaagg aaatggcggt
      841 gcggttctgt ccatggccct tccttttcag ccagagcaga gagattcaga ggatttattg
      901 aagaatttta attcagagtg tgatacacac tgtggccttg atactgcacg acaagaatat
      961 ttgggtaact cattaagaca ggaatcagac ttgaaaaaat ccacctcgtc agataattca
     1021 agctctcatc atggtgaaaa taaacaaaat ctgactgttg atccctgtga cattttgggt
     1081 ggagttgata atcagcaaag actgctacac attgtctggc ctcacaggtg gtaagtcaag
     1141 gcatgccaat ttagtaagag ttgtagaact ggtaaaagaa aatatattct gttgattgac
     1201 ataataattt gttcttctta ttgctttaga aaaagattat tttaatgtgg tggtattact
     1261 aatgatctgc caaggtggta ctactaaata tcttcacatg aatggtcatg tgcttagatt
     1321 aaatttgaat tacaggtaat tatttgctgc aatttgctca actaacagta gtgggtaggc
     1381 acttctagca tatcaagtct tgttcagaaa gtttcaaaat ataagaatca gattccattt
     1441 tatgcacaca cacacacagt tatcacaaaa ctatttcata tatacacact gatacagcaa
     1501 tattaccatt aaagcaagaa taatttccat tatttactac cttgaccagt ttcaacaggg
     1561 tggcttcatt ttacttgtca taagatgtat atcagtacat ttgaaaccat tcccttcact
     1621 cagatgcctc tgtattgtgc taagcaaaat actttctagc caagtctttt ctaaacagag
     1681 gaaaatcaac tgcagtatgt gatctcacca aataaaaact caaacttaac cctggctcct
     1741 ataaattagg atttaaagaa gtaaaatgtc ctgataatct tctggtatta ggcatgaaca
     1801 ttttaatcta gtttttattc ctcccagtta gtttaatctg catgtggcct gattagagta
     1861 cacttccccc acagattatg gtctctttat tgcagagatg ctaggctgat cattaggtcc
     1921 gattttctga gagcaaccgt ttgcaggtga agtaataaga gcaccacacc ggccgggcaa
     1981 agcgcctttg ccgaggattt gccttccagc acattaaaac tctagaagct ctcccagttg
     2041 atctgcagca tctggtacct aaagggattt tcatctttaa ttctaaatgt atgaacgtaa
     2101 aatgtaggga ttgaaagttg atgtggaatg tgtttttgaa tttgtttgtg caacttcata
     2161 cttccagcat agcctttcta aggtagtgac aggtatattt aaatcatatt ttacttcgaa
     2221 tgtgacagag ttcaatatta tttaatgtga ttttaaaatg cagtgggtct agatgagatt
     2281 aacctgtttc aaggtaaaat agatgtcatc atttactccc ttctgaaaag ctttttcttt
     2341 tattccatta acctttggtt gtctctgaag tactatttat tgcaggaaaa tcagttctaa
     2401 aagttggttc cagggtatca tgaaaatgtt aaattaaata atttctagtc tgcttttaca
     2461 aaacagcaat atggaggaaa gagtgaaaac catgttattc aatactttgc acaaaataag
     2521 acagagctat gttaataaaa ttaacaatac taaattgaa
//
