LOCUS       NM_173601               7492 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript
            variant 1, mRNA.
ACCESSION   NM_173601 XM_290597 XM_936720
VERSION     NM_173601.2
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 7492)
  AUTHORS   Harris,R.A., Bush,A.H., Eagar,T.N., Qian,J., Greenwood,M.P.,
            Opekun,A.R., Baldassano,R., Guthery,S.L., Noe,J.D., Otley,A.,
            Rosh,J.R., Kugathasan,S. and Kellermayer,R.
  TITLE     Exome Sequencing Implicates DGKZ, ESRRA, and GXYLT1 for Modulating
            Granuloma Formation in Crohn Disease
  JOURNAL   J Pediatr Gastroenterol Nutr 77 (3), 354-357 (2023)
   PUBMED   37347142
  REMARK    GeneRIF: Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for
            Modulating Granuloma Formation in Crohn Disease.
REFERENCE   2  (bases 1 to 7492)
  AUTHORS   Peng,L., Zhao,M., Liu,T., Chen,J., Gao,P., Chen,L., Xing,P.,
            Wang,Z., Di,J., Xu,Q., Qu,H., Jiang,B. and Su,X.
  TITLE     A stop-gain mutation in GXYLT1 promotes metastasis of colorectal
            cancer via the MAPK pathway
  JOURNAL   Cell Death Dis 13 (4), 395 (2022)
   PUBMED   35459861
  REMARK    GeneRIF: A stop-gain mutation in GXYLT1 promotes metastasis of
            colorectal cancer via the MAPK pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7492)
  AUTHORS   Pandey,A., Li-Kroeger,D., Sethi,M.K., Lee,T.V., Buettner,F.F.,
            Bakker,H. and Jafar-Nejad,H.
  TITLE     Sensitized genetic backgrounds reveal differential roles for EGF
            repeat xylosyltransferases in Drosophila Notch signaling
  JOURNAL   Glycobiology 28 (11), 849-859 (2018)
   PUBMED   30169771
REFERENCE   4  (bases 1 to 7492)
  AUTHORS   Sethi,M.K., Buettner,F.F., Krylov,V.B., Takeuchi,H.,
            Nifantiev,N.E., Haltiwanger,R.S., Gerardy-Schahn,R. and Bakker,H.
  TITLE     Identification of glycosyltransferase 8 family members as
            xylosyltransferases acting on O-glucosylated notch epidermal growth
            factor repeats
  JOURNAL   J Biol Chem 285 (3), 1582-1586 (2010)
   PUBMED   19940119
  REMARK    GeneRIF: We have identified two enzymes of the human
            glycosyltransferase 8 family, now named GXYLT1 and GXYLT2
            (glucoside xylosyltransferase), as UDP-d-xylose:beta-d-glucoside
            alpha1,3-d-xylosyltransferases adding the first xylose.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC023513.21, BC030023.1, BC039145.1, BC015597.2 and AL832209.1.
            
            On Nov 23, 2018 this sequence version replaced NM_173601.1.
            
            Summary: GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the
            first xylose to O-glucose-modified residues in the epidermal growth
            factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM
            190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM,
            Mar 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030023.1, SRR1803611.8879.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398675.8/ ENSP00000381666.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC023513.21        9185-9187
            4-858               BC030023.1         9-863
            859-1406            BC039145.1         603-1150
            1407-2097           BC030023.1         1412-2102
            2098-4725           BC015597.2         1157-3784
            4726-7251           AC023513.21        69448-71973
            7252-7492           AL832209.1         6386-6626
FEATURES             Location/Qualifiers
     source          1..7492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..7492
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /note="glucoside xylosyltransferase 1"
                     /db_xref="GeneID:283464"
                     /db_xref="HGNC:HGNC:27482"
                     /db_xref="MIM:613321"
     exon            1..449
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /inference="alignment:Splign:2.1.0"
     CDS             229..1551
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /EC_number="2.4.2.42"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glycosyltransferase 8 domain containing 3;
                     glycosyltransferase 8 domain-containing protein 3"
                     /codon_start=1
                     /product="glucoside xylosyltransferase 1 isoform 1"
                     /protein_id="NP_775872.1"
                     /db_xref="CCDS:CCDS41772.1"
                     /db_xref="GeneID:283464"
                     /db_xref="HGNC:HGNC:27482"
                     /db_xref="MIM:613321"
                     /translation="MRRYLRVVVLCVACGFCSLLYAFSQLAVSLEEGTGGGGGKPQAA
                     VASWLAGGGRGAVRGAGVAGPAAHPGVSDRCKDFSLCYWNPYWMLPSDVCGMNCFWEA
                     AFRYSLKIQPVEKMHLAVVACGERLEETMTMLKSAIIFSIKPLQFHIFAEDQLHHSFK
                     GRLDNWSFLQTFNYTLYPITFPSENAAEWKKLFKPCASQRLFLPLILKEVDSLLYVDT
                     DILFLRPVDDIWSLLKKFNSTQIAAMAPEHEEPRIGWYNRFARHPYYGKTGVNSGVML
                     MNMTRMRRKYFKNDMTTVRLQWGDILMPLLKKYKLNITWGDQDLLNIVFFHNPESLFV
                     FPCQWNYRPDHCIYGSNCQEAEEGGIFILHGNRGVYHDDKQPAFRAVYEALRNCSFED
                     DNIRSLLKPLELELQKTVHTYCGKIYKIFIKQLAKSVRDRYARSPKEK"
     exon            450..542
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /inference="alignment:Splign:2.1.0"
     exon            543..714
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /inference="alignment:Splign:2.1.0"
     exon            715..840
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /inference="alignment:Splign:2.1.0"
     exon            841..1092
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1216
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1389
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..7492
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      7470..7475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /note="hexamer: AATAAA"
     polyA_site      7492
                     /gene="GXYLT1"
                     /gene_synonym="GLT8D3"
                     /note="major polyA site"
ORIGIN      
        1 agaggcggtg tccaggcttc cgggcgggta gtccttcggc tccggagccg cgactgcgct
       61 cgcctaggtg gtgggcgggg agggaaggaa gggagcgggc gcaaggcggc ggcggcggct
      121 gcgggtgagg aacttgttgc gcccgcggct gcgcggtgcc cctccctccg ctccagttcg
      181 tcggggcggg cgcggcggcg gcggcgaagg aggagcgcgg ccggggcgat gcggcgctac
      241 ctgcgcgtcg tggtgctgtg tgtggcctgc ggcttctgct cgctccttta cgctttcagc
      301 cagctcgccg tgtccctgga agaaggaacg ggcggcggtg gcgggaagcc gcaggccgcg
      361 gtggcttcct ggctcgcggg cggcggacgc ggcgccgtga gaggcgccgg cgtcgcgggc
      421 cccgcagcgc atcccggcgt gtcggacagg tgtaaagatt tctctctgtg ttactggaat
      481 ccctattgga tgctgccctc tgatgtttgt ggaatgaact gcttttggga agcggctttt
      541 aggtacagtc tgaaaataca gcctgttgag aaaatgcatc tagctgtagt tgcctgtggt
      601 gaaagactgg aagaaactat gaccatgttg aagtcagcta tcattttcag catcaaacct
      661 cttcaattcc atatttttgc tgaagatcag ctacatcata gctttaaagg cagacttgac
      721 aactggtcat ttctacaaac atttaattat acgttatacc ccataacctt tccaagtgag
      781 aatgcagcag agtggaaaaa actctttaaa ccatgtgctt cgcagagatt gttcttgccg
      841 ttaatcctga aagaagttga ctcactattg tatgtcgaca ctgatatcct ttttttacga
      901 ccagttgatg atatttggtc tttactaaag aaatttaatt ccacacaaat tgctgcaatg
      961 gcaccagaac atgaggaacc tcgaatagga tggtataatc gctttgctag gcatccatat
     1021 tatggaaaaa ctggagtaaa ctctggagtt atgttgatga acatgactcg aatgagaagg
     1081 aagtatttca agaatgatat gacaactgta cgactacaat ggggagatat acttatgcca
     1141 ttgcttaaaa aatacaaact aaacatcaca tggggtgatc aagatctatt gaatatcgtg
     1201 ttttttcata atccagaaag cctttttgtt tttccgtgtc aatggaatta tcgaccagat
     1261 cattgtatat atggaagcaa ttgccaagaa gcagaagaag gaggaatctt tattcttcat
     1321 gggaacagag gtgtttacca tgacgataag caaccagcat ttagagctgt ttatgaagca
     1381 ctgagaaatt gttcttttga agatgacaac atccgttcct tattaaaacc tttagaactg
     1441 gaactacaaa aaacagtgca tacatactgt ggaaaaattt acaaaatatt tatcaaacaa
     1501 ctagcaaaaa gtgtaagaga tcgttatgcc agatcaccaa aggaaaagtg attcttggtg
     1561 actgcttaat caaatggatg aaaacaaaga atcagaagat aagtgtgaag gaatcgtctt
     1621 ggatgaagta ttcaggaagg aattactcat ctccagaata attttttttt tcctaaagaa
     1681 gttaagtaag cagtattttc aggtaatgaa gaataagtta aaatcttggg cctcaacatt
     1741 gaacattttt tatctctgat gttttgtaat gttacttgct atcattccag tattgatgaa
     1801 aatactattg aatgggttta acctgcagac ttctgttgac tcatactctc aagagtggta
     1861 ggggtgtgta gatggagaaa atgtacctca aacagtgcca acactcaaga ctgtgagtag
     1921 agcaataatt ttatgtcagc actaacctca ctttaaaagt gtgagaaaaa agtttgttta
     1981 caggagcaga aacaggtctg ttgtttctga agaaatgtga tgtaactgat gtaaccattg
     2041 acaatctatg tgtgccttta tacatttcat ctctgtttta aaatattttt atgacaatca
     2101 tgtttaaaat tatttttaga ttacaagtaa gctgcatgtt aaaaattgag ctgtgtaagg
     2161 tagaggaaaa atagtgaaaa ctttgggatt ttaatctgtg tgtgcgtgtt tgtgtgtgag
     2221 agagagtgag aaatgtagtg tttcattttg tatgcattaa actgtcttgc caaaactcag
     2281 atctaagatt gttaaataga tatttgggga attttttttt aatcacttta aatgaaaaac
     2341 gtcagcttta ctgggcattc tggaagcaaa atatattatg ctgatggtaa agtgagaacc
     2401 ttaagagtat actcatgatg gtggaaagtg tgatggacca aaatgcataa gctatatact
     2461 tcctgtgagt agtaatttta gttacaatgg agtagaaaaa tatggtccat ttaaacttgt
     2521 cttctacctc ataacggcct tgcaagatac ttttgaagaa gcaaatgtct agagccttac
     2581 tttaagtaag ttaaacaact taagtggatg atttggaata agattgttac atccagctgt
     2641 agaaaatgtg gttttaattg ggttgatgtg catttttgaa tatcacctaa gacagttaat
     2701 ttttttaaat cttgagaaat tacttctttg gcattcttga cctgttagct aatataacta
     2761 tagattctga atacttagca tatactatgc tggggcacat atcttatttt accaacaata
     2821 tgattatcta tatggttatc ttctttttct ccctgatatt ttaatgctca agtagaaaat
     2881 ggaaaatcat gaaggaaaaa tacaacctgt gaaaattgtg gcagttagct ttgtgaagac
     2941 acagtgacct ctgtggagac atggaatatg cagaaagaga tggttagtac agttgttctg
     3001 tcgtctgcag ttcagtcagg gacaaattga gagaggaaag tttaagcagg gtgcattaga
     3061 agttgataac cagtccagca ttcttagaac agatgggttt agagaacacg agttgtagtt
     3121 ccttggcaga atgccatggt gaatataaga aactgtgaaa ttgagcttac tgagtagaaa
     3181 atgagaatac taaaaatgtg aagtttggag ggtatgtatt agatcatttc taatggtcct
     3241 caaataatga tcattgcctg cctgactatg taagattctt gttgggagct taagaataga
     3301 ttcctgagct aggcctttgg agactctggc atgctgtgtc taggagggag tctgtaaaac
     3361 aatttttaat gaagaaattt aaaaattaca caaaactaga atagtgcatt ggtactcaac
     3421 atccagatct gacacttatc actatcttac catgtttgct tcatttgtca tttttttgtt
     3481 tgcttaagta tcttaaaatc ccatacattg tgttatttca ctgctgtgaa cactttgggt
     3541 agataccacg atatcacacc taacagaggc agcagcagtc cttcggcttc atctcatagc
     3601 cagtccttaa gcaaatttcc ctgattatct caaaaatcat cttctagttg gtttgttaga
     3661 atcaacagaa tataagtcac atgatgattt cgtttttaac aatcacctca gatgactttg
     3721 atgttagcta ctttgagaac cactggaaat tattttgcca acttgaaagt tcaagttagg
     3781 ataccacaat tcttggcacg tttggtggat tataaatgtg attttgaaat attagaggaa
     3841 gcatttgggg ttaatgacag gatatgaatt tatattagta agtttgataa gataaaattt
     3901 cctcagtgaa cggagaatct cagccccatg ggctctaatt gattgggact tgtgtagagc
     3961 gtggtcacag tttaatccaa ctggactgta tgctgtggtc tcactcatgt tgtggcttat
     4021 ttacactgtc acacacacta cattgtggat cagttggaag gttcttcatc tggtttattt
     4081 agacctgacc taattgatca ttttaccata aattgaatta tagtgaaaac tgtcttttgg
     4141 gtactgtttc tacctaaaat taaaggtatc acaaaatatg tataataatt tttaaatgaa
     4201 ttttctgaat ttatctttag acaaggtaat tcttttgaat tctaaagaaa tgcagttctt
     4261 ggagttgatg agaggttaaa ttatagatgg acaacttaga gaacgtattc catcttcata
     4321 taaatggtct ttcataaaac atagtgtatc tatgcagttt atataaacta catgatttat
     4381 tatttgagtc tatgtattct gacctcagaa ctatctctgg gctacagtat taccaaagtg
     4441 ggatgccttt aaaatgcagt caaacttcat ttgtatgaag tagaaaagaa cttgggaaac
     4501 ctttaaaaat atatattgtg atttatgctt taagaaaatg catacttttt tctaatgaag
     4561 agtagttcat aatatataag ggttttaagg ccctgaaata acattagtgc ttactcattg
     4621 ctctctcatc ttgcctccag tcagatgtta ttggtatagt gaaaagaaga ccagattttg
     4681 aactagatct ggattctctt tttagtaact caggcatgtt atttaccctt ctctgtgcct
     4741 taggttttta agtacaatca gtgtaccctt caaacctcac aagatgaaac tcagaagaga
     4801 taatggattt ggaagcattt tgcgtggctt atattatgcc acgccagtgt tactgttgaa
     4861 gttctgtttt gttcgttgtt ttctgtacag agcgttcagt ttactcaggc tgaatgtttt
     4921 ctgacatata tctccagtat gaatttgttt atgtaaggaa gagtttttca ggaagagaaa
     4981 gtagagaaga aaagaatgat gtaactaaat caaaaaagaa ggaaaagaga ggaagtgaga
     5041 aaaggggtga ggaaagagaa aggagtaaga atggggatgg caaagggcag agtaagagaa
     5101 aagatggaat gagtgtatgg aaaattgaga agtagagatg gagagaaatg gtgtggaaac
     5161 atttactttt tgagttgtag ccctcacact acatcagttt gcttgcctgg gctctctggg
     5221 gtcaggaaag gtgctgactt ccatggaatg gggcagcagg gcctgctgta tttggtttgt
     5281 tagtactaga gttgtttccc aatcacccta ctcactgatc atttagtgcc aattcaacat
     5341 tttatgtctt ttttttttag tggatcccag tttgtgagct aggacctgtg gaaatacaag
     5401 tatcttcctt tttaacttta ttgttttagc catcccaagt gttagactgc aagactaact
     5461 acatattccc cagtggaggt tggaagtgga ggggactgct tcattaggtc tgaagggggc
     5521 caaggaatgt gttgcagcag ttttcgcaga tgatactgac gagaggccag gtttgggaat
     5581 cactgccctg ccttggatgg caaattaagc aataaattac acctatttat tcctcagttg
     5641 ggatactttc agttgaacca ttctgagtag atttaagaga acaaaagaca gcagaaatac
     5701 cttaaaagat attattggct gtcttatttt tcagatattt gtatttaata aataccttag
     5761 tagtagtcag aacctctttg agatgttttt agaaagacca ctgatttgtt ttttaaaata
     5821 atttttttgg ttccttagag tagagaagaa aagtaggggt gcaatatgtc aggtgtgggg
     5881 ccagttatcc atttattaaa tgcaatttca agtgtcttaa aaacaataat tgccttattg
     5941 cattttaata tttaataaag tagattaaat aaagatttgt attataacag ttattctttt
     6001 atccattgcc aaagcaaccc ttttttgcct attaaaatct ggctaaactg ttctgatgtt
     6061 gtttcttaat tcattaaaca tgaaactagg ttttacaaac taaattatat aaagacagaa
     6121 gtctaaaaat ggtaccagaa aatttttttt taaaaaatta atgtgttatt caaatatcca
     6181 gcaattaaag actcatgaga aaaacagaat agcatattag atgtaacagt ttaaaatgga
     6241 ttgcaaatca atgtcagact taaatagaaa atatttatta tcacctcatt tctaccaata
     6301 atttcagatg tttaatggga ctttgaaaag ataggaaaaa atagaaatga aaatttatct
     6361 cacctttaat actgtgaata ctatttggag ggtccctggt cagacattta aatatcaaac
     6421 ttaagaactg acatggagcc tttgattagt ttatatacag gatctgaata tttacacaca
     6481 tagcacacta tagcaacctc ttgtaaaaaa tcatgaagat agaattcaac agtgtatatt
     6541 ctattaaaaa gtaaattggc tgggtgtggt ggctcatgca tgtaatccca gcactttggg
     6601 aggccgaggc aggaggatcg cttgagccca agagtttgag accagcctag gtgacaaagt
     6661 gagaccccat ctctacaaaa aaattaaaaa attatccaga tgtggtggtg tttgcctgcg
     6721 gtcctagcta cacaggaagt tgaggcagga ggattgcttg agtgcaagag tttgaggctg
     6781 cagagagcca agattgcacc attgcactcc agcctgggtg acagagcgag accctgtctc
     6841 aaaaaataaa ggaaattggc tttgactatg aaaaacagcc attttcaacc tttttataaa
     6901 acctcttcag ggaatattgg aatattattt ttgtcaggca aaaataatcc agggcttgag
     6961 cattgctgta gaatatgtta tctgttcaaa acttagcaga gcacgcatgc atcacatgca
     7021 ttgtcatcag tatttgagag ctgaaccaat ggtttttgat ggttgccgta acagaagatc
     7081 tgtgaagagg atggtggttt gcacctgttc ctgaagtcaa actggaaaag gttgcaggta
     7141 tttcaatttt ctcaatcatt ttgcataaat gtattaatat tttgagtagt aatagttcta
     7201 aacctgcagg aaggcatcat tgtatactgt ggtatgtaga gaatactact cttacactgc
     7261 tctttatctt aaaatgtttt ggtatactgt gaatattttc ctctaagtat ttggtgtatt
     7321 ttgacagtta ttaaaggaga atataaaatt aaagattctg gtctaaacta agaataatgg
     7381 aaagttgctt cgtcctgcct tagaggagtt ttcagttcat cctcttcttg agaaactatg
     7441 tgttgctgtt actaaataaa catttactca ataaacgttt tatttcctca aa
//
