LOCUS       NM_182974               1534 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1),
            mRNA.
ACCESSION   NM_182974
VERSION     NM_182974.3
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 1534)
  AUTHORS   Rodrigues,R.S., Rego,R., Caminaga,R.M.S., Goveia,J.M. and
            Silveira,V.R.S.
  TITLE     Analysis of GLT6D1 and CDKN2BAS gene polymorphisms in Brazilian
            patients with advanced periodontitis
  JOURNAL   Braz Oral Res 36, e077 (2022)
   PUBMED   35703703
  REMARK    GeneRIF: Analysis of GLT6D1 and CDKN2BAS gene polymorphisms in
            Brazilian patients with advanced periodontitis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1534)
  AUTHORS   Hashim,N.T., Linden,G.J., Ibrahim,M.E., Gismalla,B.G., Lundy,F.T.,
            Hughes,F.J. and El Karim,I.A.
  TITLE     Replication of the association of GLT6D1 with aggressive
            periodontitis in a Sudanese population
  JOURNAL   J Clin Periodontol 42 (4), 319-324 (2015)
   PUBMED   25682733
  REMARK    GeneRIF: study independently replicated finding that rs1537415,
            variant in glycosyl transferase gene GLT6D1, is associated with AgP
            and provided 1st report of genetic associations with AgP Sudanese
            population.
REFERENCE   3  (bases 1 to 1534)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 1534)
  AUTHORS   Schaefer,A.S., Richter,G.M., Nothnagel,M., Manke,T., Dommisch,H.,
            Jacobs,G., Arlt,A., Rosenstiel,P., Noack,B.,
            Groessner-Schreiber,B., Jepsen,S., Loos,B.G. and Schreiber,S.
  TITLE     A genome-wide association study identifies GLT6D1 as a
            susceptibility locus for periodontitis
  JOURNAL   Hum Mol Genet 19 (3), 553-562 (2010)
   PUBMED   19897590
  REMARK    GeneRIF: GLT6D1 is a susceptibility locus for periodontitis.
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   5  (bases 1 to 1534)
  AUTHORS   Casals,F., Ferrer-Admetlla,A., Sikora,M., Ramirez-Soriano,A.,
            Marques-Bonet,T., Despiau,S., Roubinet,F., Calafell,F.,
            Bertranpetit,J. and Blancher,A.
  TITLE     Human pseudogenes of the ABO family show a complex evolutionary
            dynamics and loss of function
  JOURNAL   Glycobiology 19 (6), 583-591 (2009)
   PUBMED   19218399
REFERENCE   6  (bases 1 to 1534)
  AUTHORS   Turcot-Dubois,A.L., Le Moullac-Vaidye,B., Despiau,S., Roubinet,F.,
            Bovin,N., Le Pendu,J. and Blancher,A.
  TITLE     Long-term evolution of the CAZY glycosyltransferase 6 (ABO) gene
            family from fishes to mammals--a birth-and-death evolution model
  JOURNAL   Glycobiology 17 (5), 516-528 (2007)
   PUBMED   17298992
  REMARK    Erratum:[Glycobiology. 2007 Aug;17(8):14G]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY336054.1 and AL354761.17.
            
            On May 17, 2019 this sequence version replaced NM_182974.2.
            
            Summary: The GT6 glycosyltransferases gene family, which includes
            the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex
            evolution pattern, with multiple events of gain and loss in
            different mammal species. In humans, the ABO gene is considered the
            sole functional member, although the O allele is null and is fixed
            in certain populations (summary by Casals et al. (2009) [PubMed
            19218399]).[supplied by OMIM, Jan 2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY336054.1, SRR5189667.186835.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371763.6/ ENSP00000360829.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1081              AY336054.1         1-1081
            1082-1526           AL354761.17        64860-65304         c
            1527-1534           AL354761.17        64852-64859         c
FEATURES             Location/Qualifiers
     source          1..1534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1534
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /note="glycosyltransferase 6 domain containing 1"
                     /db_xref="GeneID:360203"
                     /db_xref="HGNC:HGNC:23671"
                     /db_xref="MIM:613699"
     exon            1..248
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /inference="alignment:Splign:2.1.0"
     exon            249..325
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /inference="alignment:Splign:2.1.0"
     CDS             255..1085
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /EC_number="2.4.1.-"
                     /note="glycosyltransferase 6 domain-containing protein 1;
                     galactosyltransferase family 6 domain containing 1"
                     /codon_start=1
                     /product="putative glycosyltransferase 6 domain-containing
                     protein 1"
                     /protein_id="NP_892019.2"
                     /db_xref="CCDS:CCDS43900.1"
                     /db_xref="GeneID:360203"
                     /db_xref="HGNC:HGNC:23671"
                     /db_xref="MIM:613699"
                     /translation="MNSKRMLLLVLFAFSLMLVERYFRNHQVEELRLSDWFHPRKRPD
                     VITKTDWLAPVLWEGTFDRRVLEKHYRRRNITVGLAVFATGRFAEEYLRPFLHSANKH
                     FMTGYRVIFYIMVDAFFKLPDIEPSPLRTFKAFKVGTERWWLDGPLVHVKSLGEHIAS
                     HIQDEVDFLFSMAANQVFQNEFGVETLGPLVAQLHAWWYFRNTKNFPYERRPTSAACI
                     PFGQGDFYYGNLMVGGTPHNILDFIKEYLNGVIHDIKNGLNSTYEKHLNKYFYLNKPT
                     "
     exon            326..373
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /inference="alignment:Splign:2.1.0"
     exon            374..511
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /inference="alignment:Splign:2.1.0"
     exon            512..1534
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1293..1298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /note="hexamer: AATAAA"
     polyA_site      1313
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /note="major polyA site"
     regulatory      1350..1355
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /note="hexamer: AATAAA"
     polyA_site      1376
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /note="major polyA site"
     regulatory      1515..1520
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /note="hexamer: AATAAA"
     polyA_site      1534
                     /gene="GLT6D1"
                     /gene_synonym="GLTDC1; GT6M7"
                     /note="major polyA site"
ORIGIN      
        1 attctcctag atcaagaaga cttcctcatc aagacctcat tctatttgca cagccctgca
       61 gtggagagat ttattgcgtt tctttcatgc aatcaacgca gactttgatg tgaacacggg
      121 gagagacagt gcacgtgcag ctgacccacg gggaacagtc agccccgggc acttgaagga
      181 gaacagaggc ttccctaact caagtcgctg tctcctgcca gctgaacatt ctagaagcaa
      241 cctctaagga gagaatgaat tctaaaagaa tgctgttatt ggttttattt gctttttcac
      301 tgatgttggt tgagcgttat ttcaggaatc accaagtaga agaacttcgg ctctcagact
      361 ggtttcatcc tagaaaacgc cctgatgtta taacgaaaac agactggctc gctcctgtcc
      421 tatgggaagg gactttcgac aggcgggtcc tggaaaaaca ttacagaagg cggaatatca
      481 ctgtgggcct ggccgtcttt gctactggca ggtttgcaga ggagtacctg aggccgttcc
      541 tacactccgc aaataagcac ttcatgacag gctaccgagt gatcttctac atcatggtgg
      601 acgccttctt caagctgcct gacatagagc ccagtcctct tcgaacgttc aaagcattta
      661 aagtgggcac cgagaggtgg tggctcgatg gccccctggt gcatgtgaag agcctgggtg
      721 aacacatcgc cagtcacatc caggacgagg tggacttcct cttcagcatg gctgccaacc
      781 aggtcttcca gaatgagttc ggggtggaga ccctgggccc gttggtggcc cagctccacg
      841 cctggtggta tttcagaaac accaagaact tcccttatga gaggaggccg acctcagcag
      901 cttgcatccc gtttggacag ggagatttct attatggcaa cttgatggtt ggtggcacac
      961 cccataatat tttagacttc atcaaagaat atctgaacgg agttattcat gacatcaaaa
     1021 atggactcaa tagcacttat gaaaagcacc ttaacaaata tttttacctc aataaaccca
     1081 cctagctgtt atcaccagca tacagctggg atcttgcatt ttctcctcct ccacagatcc
     1141 aatacgtcaa ggtcgcacat gattcccaga ggaaattatg aattacgcca tgaggtttat
     1201 gacgaataaa tgaatcacgg caatttctta taaatgaggg aagtcttaag accttccatt
     1261 ttttagagac atacaaattt acatccttcc caaataaatg tttcttcttg ccattttgag
     1321 ccatcttatt tggctaatgt aggataaaga ataaaaggat aattacttaa tgttaataca
     1381 cagtaatgtt attatctatg tattgtagac aatgtgaaaa tacatttgac atagaatgaa
     1441 tatttttaat ggagaaagac tctagttgag aaaaaacatt cataaaatgg aaaagtagtt
     1501 cacgcaaagg aaaaaataaa tgccaggcca ctca
//
