LOCUS       NM_001006636            4294 bp    mRNA    linear   PRI 12-MAY-2024
DEFINITION  Homo sapiens glycosyltransferase like domain containing 1 (GTDC1),
            transcript variant 1, mRNA.
ACCESSION   NM_001006636
VERSION     NM_001006636.5
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 4294)
  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 4294)
  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 4294)
  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 4294)
  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 4294)
  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 4294)
  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 4294)
  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 4294)
  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, AC010681.16 and AC016910.6.
            
            On Aug 30, 2019 this sequence version replaced NM_001006636.4.
            
            Transcript Variant: This variant (1), as well as variants 3, 12,
            18, and 21-29, encodes isoform a.
            
            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 :: SRR18074969.3075884.1,
                                           SRR1660807.38340.1 [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
            1-129               AC009957.11        179647-179775       c
            130-191             AC009957.11        120958-121019       c
            192-256             AC009957.11        96797-96861         c
            257-458             AC009957.11        93885-94086         c
            459-626             AC009957.11        30854-31021         c
            627-800             AC009957.11        27164-27337         c
            801-1154            AC010681.16        8445-8798           c
            1155-1264           AC016910.6         135286-135395       c
            1265-1409           AC016910.6         121828-121972       c
            1410-1480           AC016910.6         117406-117476       c
            1481-1572           AC016910.6         116615-116706       c
            1573-4294           AC016910.6         109047-111768       c
FEATURES             Location/Qualifiers
     source          1..4294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q22.3"
     gene            1..4294
                     /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..129
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            130..191
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            192..256
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            257..458
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     CDS             280..1656
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /EC_number="2.4.1.110"
                     /note="isoform a is encoded by transcript variant 1;
                     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
                     a"
                     /protein_id="NP_001006637.1"
                     /db_xref="CCDS:CCDS33300.1"
                     /db_xref="GeneID:79712"
                     /db_xref="HGNC:HGNC:20887"
                     /db_xref="MIM:610165"
                     /translation="MSILIIEAFYGGSHKQLVDLLQEELGDCVVYTLPAKKWHWRART
                     SALYFSQTIPISEHYRTLFASSVLNLTELAALRPDLGKLKKILYFHENQLIYPVKKCQ
                     ERDFQYGYNQILSCLVADVVVFNSVFNMESFLTSMGKFMKLIPDHRPKDLESIIRPKC
                     QVIYFPIRFPDVSRFMPKHKTTHLKKMLGLKGNGGAVLSMALPFQPEQRDSEDLLKNF
                     NSECDTHCGLDTARQEYLGNSLRQESDLKKSTSSDNSSSHHGENKQNLTVDPCDILGG
                     VDNQQRLLHIVWPHRWEHDKDPESFFKVLMHLKDLGLNFHVSVLGETFTDVPDIFSEA
                     KKALGSSVLHWGYLPSKDDYFQVLCMADVVISTAKHEFFGVAMLEAVYCGCYPLCPKD
                     LVYPEIFPAEYLYSTPEQLSKRLQNFCKRPDIIRKHLYKGEIAPFSWAALHGKFRSLL
                     TTEPREDL"
     exon            459..626
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            627..800
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            801..1154
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1264
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1409
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1480
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1572
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     exon            1573..4294
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2658..2663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="hexamer: AATAAA"
     regulatory      2669..2674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="hexamer: AATAAA"
     polyA_site      2677
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="major polyA site"
     polyA_site      2694
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="major polyA site"
     regulatory      2776..2781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="hexamer: AATACA"
     polyA_site      2802
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
     regulatory      3636..3641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="hexamer: AATAAT"
     polyA_site      3661
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
     regulatory      4275..4280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
                     /note="hexamer: AATAAA"
     polyA_site      4291
                     /gene="GTDC1"
                     /gene_synonym="Hmat-Xa; mat-Xa; QTMAN"
ORIGIN      
        1 ggacttgctg gagatataga aagggacctg acacagtttc tggccttaag gagctctcat
       61 tccagtgggg aagaaaaaaa ctaaaataat gatgtccgag agcatcagaa aagaacctgc
      121 tctggtcagg tatctctgca ttagccagat tggacatatg taaagggaca tcagtatatc
      181 tggatcatca gattgtgctt caagaagacc atagggaaga acgcattttc atcttgctgc
      241 aaaagttgca atagaagatc tgaaggtttg aatgggccaa tgagtatcct catcattgaa
      301 gcattctatg gaggctccca taaacagctg gtggatcttc ttcaagaaga gttaggagac
      361 tgtgtcgttt atacccttcc tgcaaagaaa tggcattgga gagcccggac atctgcttta
      421 tatttctctc agaccattcc catcagtgag cattacagga ccctctttgc aagttcagtg
      481 cttaacctga ccgaactggc tgcccttcgg cctgaccttg ggaaactgaa aaagattctg
      541 tattttcacg agaaccagtt gatatatcct gtcaagaaat gtcaggagag ggatttccaa
      601 tatggataca accaaattct ttcatgcctg gtggctgatg tggttgtatt caactcagtt
      661 tttaatatgg aatcatttct cacttccatg ggaaaattta tgaagctgat tcctgatcac
      721 agacccaagg atctggaaag catcatcaga cccaagtgcc aagttattta ctttcccatc
      781 aggtttcctg atgtgagcag attcatgccc aagcacaaaa caacccattt aaagaagatg
      841 ctcggcctta aaggaaatgg cggtgcggtt ctgtccatgg cccttccttt tcagccagag
      901 cagagagatt cagaggattt attgaagaat tttaattcag agtgtgatac acactgtggc
      961 cttgatactg cacgacaaga atatttgggt aactcattaa gacaggaatc agacttgaaa
     1021 aaatccacct cgtcagataa ttcaagctct catcatggtg aaaataaaca aaatctgact
     1081 gttgatccct gtgacatttt gggtggagtt gataatcagc aaagactgct acacattgtc
     1141 tggcctcaca ggtgggagca tgataaagat ccagaaagct tttttaaggt attaatgcat
     1201 cttaaagact taggactcaa tttccacgtg tctgtacttg gagaaacctt cacagatgtc
     1261 ccagatattt tttcagaggc caaaaaggca ttgggatctt ctgtcttaca ctggggctac
     1321 ttacccagca aagatgacta tttccaagta ctgtgcatgg ctgatgttgt catctcaaca
     1381 gctaagcatg aattctttgg agtggcaatg ttggaagctg tgtactgtgg gtgttaccca
     1441 ctttgtccta aagatttggt ttatcccgaa atatttccag ctgaatatct gtattctaca
     1501 cctgaacagc tttcaaaaag gctccagaat ttctgcaaga gaccagatat tataagaaaa
     1561 catctctata agggtgaaat cgctccgttt tcttgggcag ccctacatgg taaattcagg
     1621 tctctgctta caacagaacc tagggaagat ttgtgacaga tggggctaag tcacaaactt
     1681 gcagcctaag gcagaatctg aagaactttc cagagtgtgc ccatatttac ctgatcagag
     1741 agaaaagaaa atctgcagag gaagctgagc ctggctgctt gtcatagctg acacagagcc
     1801 atctgccaca aacctgtggc ggcttcagat ctccaatccc tgccaccacc ccaactcaaa
     1861 ttaaatacag attcctagag acgttatgat ggttacacat gtcctcggca tcacatgtag
     1921 gagactgttc aaaaaaaata tgtggcctgt tgtataaccg cactcatgta tcccatatgt
     1981 ggtgccacat tgaatttccg gttgaatccg tttttatcct ttgtactgga tgacatggtg
     2041 cctgaattct ttcttttcgc cgacacgatg gcagccaaac tgcagcttca aacgctcaca
     2101 cttggctggg tttctaccta ggttgccagg ttatcatcgg agccttcttg tgtcctcaaa
     2161 gggccacgag gcctgaaagg aggatcagaa tgctttggga ttaattgggc agccatcgca
     2221 gaattgtttg tgggcaaagg gctgctttag cacttttctt ttagcaaatt aatgactctc
     2281 aggcacaggg ggttttaagt gaaggtatta ataagaggtc tggcaggtat tcccatgatt
     2341 cacagagtta catttgcatt taattaatct taaagttgca agataaacag ctgtaattcg
     2401 gacaaacatg acaaacacag tgaagccaac tatcccataa aatgaacact gacatacttg
     2461 ttttaatttt tttcccagcg taaaaataga aaaatcaaaa tactcctaac aaaaccagtg
     2521 attttgatag aaatatttct ccaatatact tgcatccacc tacaaatata accttttcaa
     2581 gataaatcgc ttatgatttc aatagtcaaa ctgctgtgtt tgttgatgta aagatgtttt
     2641 gaatggctag atggtaaaat aaattcttaa taaagtaccc actgcaattt ttaattagca
     2701 tattcattta catatagatg tatacatcta cctatgtgtt tctcactgaa cgttttcctt
     2761 gtgacagaga caacaaatac aattgtttct tttccggatg aacaaggatc tgttttgcaa
     2821 atgtttgtaa gatattatga catttccaag attttctttg cattctggaa agcaggaggt
     2881 aaacatttgt agtcattaag gtaaagtctg ttgataaacc atcttctgtt tactgacagg
     2941 taaattgtaa ctttccctag cttttgaaat gagtaacttc tatacaccac aaagtgaggc
     3001 acagcctggg aaaggtggct agacaagggg caagccaggc tttctagctt ctggaaggat
     3061 cgagtggcct agcaggcatc taagataaag aaagcaatga ttcggaagtc cagtagggcc
     3121 catttgaccg gtagcaaaat cgaaagcacg aaatagatca aggttaggga gccagacaaa
     3181 gcccttggaa gagaggcagt attgcagatc gaagcaagca gttcagagtc tatgaggcct
     3241 gggaatttaa aagcaggaag agtaagaagc agaaacaaga agctccatct gaacagactc
     3301 ctctctccaa ccttcatgag acccacagtg tgtgatgggc caccacagca ctggcttcta
     3361 gacttttaca gggaagccag tgaacaaatt acctcgtcac ccagaaaaca aagagctcag
     3421 gaactatttt ggaagttcct tccagtctaa gactatggaa ctcagaatct agcaggtgtg
     3481 ttcctttgga tagcaaaact aaagatataa atatgaataa gaaattcttt gccacttctc
     3541 ctgggcaagg ttatacttta tgccatctac tgagataaac cagatgagtc agtttgcttc
     3601 tgtcagttgc tgtgtcacag atgacatctt ctcaaaataa tattatctca cagccaagaa
     3661 atagcgcttc gtttactgtg tttttctatc ctgaaactaa atgggcttac gcttcatagt
     3721 ggctaagata ctccacacac aactagtacc catagatctt ttctcactga taggaaaaaa
     3781 aaaaaaaaag cattaaacac ctttcagaga gtacatctga aacatttacg tattttcctg
     3841 atttaggcaa atataatatt gaaagttacc tgtatgtggg catttttttc tacactcata
     3901 aatgcaaatc aaattttgcc attagctgtg gccaacattc cttccaggac aaaagcttac
     3961 attaggccgg gtgcggtggc gcacgcctgt aatcccagca ctttgggagg ccgagacggg
     4021 tggatcatga ggtcaggaga tcgagaccat cctggctaac acggtgaaac cccatctcta
     4081 ctaaaaatac aaaaaaaatt agccaggcat ggtggcgggt gcctgtagtc ccagctactg
     4141 gggaggctga ggcaggagaa tggcgtgaac ccaggaggcg gagcttgcag tgagccgaga
     4201 tcgtgccact gcactccagc ctgggcgaca gagcgagact ctgtctcaaa aaataaataa
     4261 ataaataaat ttaaaataaa ttttaaaaaa atta
//
