LOCUS       NM_022167               3507 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens xylosyltransferase 2 (XYLT2), transcript variant 1,
            mRNA.
ACCESSION   NM_022167
VERSION     NM_022167.4
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 3507)
  AUTHORS   Fischer,B., Kuhn,J., Ly,T.D., Schmidt,V., Kleine,A., Hendig,D.,
            Knabbe,C. and Faust,I.
  TITLE     Development of a xylosyltransferase-I-selective UPLC MS/MS activity
            assay using a specific acceptor peptide
  JOURNAL   Biochimie 184, 88-94 (2021)
   PUBMED   33609631
  REMARK    GeneRIF: Development of a xylosyltransferase-I-selective UPLC MS/MS
            activity assay using a specific acceptor peptide.
REFERENCE   2  (bases 1 to 3507)
  AUTHORS   Bernstein,A., Reichert,S.N.A., Sudkamp,N.P., Hernandez,S.L.,
            Nerlich,A.G., Kuhle,J. and Mayr,H.O.
  TITLE     Expression of xylosyltransferases I and II and their role in the
            pathogenesis of arthrofibrosis
  JOURNAL   J Orthop Surg Res 15 (1), 27 (2020)
   PUBMED   31973761
  REMARK    GeneRIF: Expression of xylosyltransferases I and II and their role
            in the pathogenesis of arthrofibrosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3507)
  AUTHORS   Fischer,B., Ly,T.D., Schmidt,V., Hendig,D., Kuhn,J., Knabbe,C. and
            Faust,I.
  TITLE     Xylosyltransferase-deficient human HEK293cells show a strongly
            reduced proliferation capacity and viability
  JOURNAL   Biochem Biophys Res Commun 521 (2), 507-513 (2020)
   PUBMED   31677793
  REMARK    GeneRIF: HEK293 cells lacking both XT-isoforms are not viable
REFERENCE   4  (bases 1 to 3507)
  AUTHORS   Guleray,N., Simsek Kiper,P.O., Utine,G.E., Boduroglu,K. and
            Alikasifoglu,M.
  TITLE     Intrafamilial variability of XYLT2-related spondyloocular syndrome
  JOURNAL   Eur J Med Genet 62 (11), 103585 (2019)
   PUBMED   30496831
  REMARK    GeneRIF: We report on two siblings with spondyloocular syndrome who
            presented with varying clinical severity. A novel XYLT2 missense
            mutation was detected in a region evolutionary conserved across the
            species
REFERENCE   5  (bases 1 to 3507)
  AUTHORS   Umair,M., Eckstein,G., Rudolph,G., Strom,T., Graf,E., Hendig,D.,
            Hoover,J., Alanay,J., Meitinger,T., Schmidt,H. and Ahmad,W.
  TITLE     Homozygous XYLT2 variants as a cause of spondyloocular syndrome
  JOURNAL   Clin Genet 93 (4), 913-918 (2018)
   PUBMED   29136277
  REMARK    GeneRIF: Using DNA from affected members of the same 2 families, we
            performed whole exome sequencing, which revealed 2 novel homozygous
            missense variants (c.1159C > T, p.Arg387Trp) and (c.2548G > C,
            p.Asp850His). Our findings extend the body of evidence that SOS is
            caused by homozygous variants in the XYLT2 gene
REFERENCE   6  (bases 1 to 3507)
  AUTHORS   Gotting,C., Kuhn,J., Brinkmann,T. and Kleesiek,K.
  TITLE     Xylosyltransferase activity in seminal plasma of infertile men
  JOURNAL   Clin Chim Acta 317 (1-2), 199-202 (2002)
   PUBMED   11814476
REFERENCE   7  (bases 1 to 3507)
  AUTHORS   Kuhn,J., Gotting,C., Schnolzer,M., Kempf,T., Brinkmann,T. and
            Kleesiek,K.
  TITLE     First isolation of human UDP-D-xylose: proteoglycan core protein
            beta-D-xylosyltransferase secreted from cultured JAR
            choriocarcinoma cells
  JOURNAL   J Biol Chem 276 (7), 4940-4947 (2001)
   PUBMED   11087729
REFERENCE   8  (bases 1 to 3507)
  AUTHORS   Gotting,C., Kuhn,J., Zahn,R., Brinkmann,T. and Kleesiek,K.
  TITLE     Molecular cloning and expression of human UDP-d-Xylose:proteoglycan
            core protein beta-d-xylosyltransferase and its first isoform XT-II
  JOURNAL   J Mol Biol 304 (4), 517-528 (2000)
   PUBMED   11099377
REFERENCE   9  (bases 1 to 3507)
  AUTHORS   Gotting,C., Sollberg,S., Kuhn,J., Weilke,C., Huerkamp,C.,
            Brinkmann,T., Krieg,T. and Kleesiek,K.
  TITLE     Serum xylosyltransferase: a new biochemical marker of the sclerotic
            process in systemic sclerosis
  JOURNAL   J Invest Dermatol 112 (6), 919-924 (1999)
   PUBMED   10383739
REFERENCE   10 (bases 1 to 3507)
  AUTHORS   Gotting,C., Kuhn,J., Brinkmann,T. and Kleesiek,K.
  TITLE     Xylosylation of alternatively spliced isoforms of Alzheimer APP by
            xylosyltransferase
  JOURNAL   J Protein Chem 17 (3), 295-302 (1998)
   PUBMED   9588955
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ277442.1, AK299999.1,
            BQ018370.1 and BM726479.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_022167.3.
            
            Summary: The protein encoded by this gene is an isoform of
            xylosyltransferase, which belongs to a family of
            glycosyltransferases. This enzyme transfers xylose from UDP-xylose
            to specific serine residues of the core protein and initiates the
            biosynthesis of glycosaminoglycan chains in proteoglycans including
            chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate.
            The enzyme activity, which is increased in scleroderma patients, is
            a diagnostic marker for the determination of sclerotic activity in
            systemic sclerosis. Alternatively spliced transcript variants have
            been found for this gene. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.234339.1,
                                           SRR1803616.133397.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000017003.7/ ENSP00000017003.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-191               AJ277442.1         95-285
            192-1584            AK299999.1         183-1575
            1585-2896           AJ277442.1         1679-2990
            2897-3181           BQ018370.1         3-287
            3182-3473           AJ277442.1         3277-3568
            3474-3507           BM726479.1         1-34                c
FEATURES             Location/Qualifiers
     source          1..3507
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..3507
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /note="xylosyltransferase 2"
                     /db_xref="GeneID:64132"
                     /db_xref="HGNC:HGNC:15517"
                     /db_xref="MIM:608125"
     exon            1..150
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..2613
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /EC_number="2.4.2.26"
                     /note="UDP-D-xylose:proteoglycan core protein
                     beta-D-xylosyltransferase; protein xylosyltransferase 2;
                     peptide O-xylosyltransferase 1; xylosyltransferase II"
                     /codon_start=1
                     /product="xylosyltransferase 2"
                     /protein_id="NP_071450.2"
                     /db_xref="CCDS:CCDS11563.1"
                     /db_xref="GeneID:64132"
                     /db_xref="HGNC:HGNC:15517"
                     /db_xref="MIM:608125"
                     /translation="MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAG
                     EKGRQRKPRPLDPGEGSKDTDSSAGRRGSTGRRHGRWRGRAESPGVPVAKVVRAVTSR
                     QRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPPHGDTGSVEGAPQPTDNGFTP
                     KCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQW
                     DESQAQQPMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHRE
                     VVELAQGYDNVRVTPWRMVTIWGGASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYP
                     TRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAG
                     IVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSLACET
                     LVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFES
                     TVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSL
                     HHAATAAPPMGTPLCRFEPRGLPSSVHLYFYDDHFQGYLVTQAVQPSAQGPAETLEMW
                     LMPQGSLKLLGRSDQASRLQSLEVGTDWDPKERLFRNFGGLLGPLDEPVAVQRWARGP
                     NLTATVVWIDPTYVVATSYDITVDTETEVTQYKPPLSRPLRPGPWTVRLLQFWEPLGE
                     TRFLVLPLTFNRKLPLRKDDASWLHAGPPHNEYMEQSFQGLSSILNLPQPELAEEAAQ
                     RHTQLTGPALEAWTDRELSSFWSVAGLCAIGPSPCPSLEPCRLTSWSSLSPDPKSELG
                     PVKADGRLR"
     exon            151..643
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            644..819
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            820..1022
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1103
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1320
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1497
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1498..1760
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1761..1956
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1957..2290
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     exon            2291..3507
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3454..3459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /note="hexamer: AATATA"
     polyA_site      3473
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /note="major polyA site"
ORIGIN      
        1 gtcccgggca ggaagatggt ggcgagcgcg cgagtgcaga agctggtgcg gcgctacaag
       61 ctggcgattg ccacggcgct ggccatcctg ctgctgcagg gcctggtagt gtggagcttc
      121 agcggcctgg aggaggacga ggcgggcgag aaaggaaggc agaggaagcc acggccactg
      181 gaccctggcg agggttccaa ggacacagac agttcagcag ggcgacgggg cagcacaggc
      241 agaaggcatg ggcgctggcg gggccgtgct gagagcccag gagtgcccgt ggccaaggtg
      301 gtacgggcag taaccagccg gcagagagcc agccggcggg tcccacctgc cccacccccg
      361 gaagccccag gccgccagaa cctgagtggg gcagcagctg gggaggcgct ggtaggggca
      421 gctggcttcc caccacacgg agatacaggg agcgtggagg gcgcccccca gcccacggac
      481 aatggcttca cccccaagtg cgagatcgtg ggcaaggacg cactgtctgc actggcccgg
      541 gccagcacca agcagtgcca gcaggagatc gccaatgtgg tgtgcctgca ccaggctggg
      601 agcctcatgc ccaaggctgt gccccggcac tgtcagctga ctgggaagat gagccccggc
      661 atccagtggg atgagagcca agcccagcag cccatggatg gccccccggt gcgaatcgcc
      721 tacatgctgg tggttcacgg ccgcgccatc cgccagctga agcgtctcct caaggccgtt
      781 tatcacgagc agcacttctt ttacatccat gtggacaagc gttccgacta cctgcaccgg
      841 gaggtggtgg agctggccca gggctatgat aacgtgcggg tgacgccctg gcgcatggtt
      901 accatctggg gcggggccag cctcctgagg atgtacctgc ggagcatgcg ggacctgcta
      961 gaggtgcctg gctgggcctg ggacttcttc atcaacctca gtgccactga ctatccaacc
     1021 aggaccaatg aggagctggt ggcattccta tccaagaacc gggacaagaa tttcctcaag
     1081 tcacatggcc gggacaactc caggttcatc aagaaacagg gcctggaccg gctcttccat
     1141 gagtgcgact cacacatgtg gcgcctgggc gagcggcaga tcccagcagg cattgtggtg
     1201 gatggcggtt ctgactggtt cgtgctgaca cgcagctttg tggagtatgt ggtgtacaca
     1261 gatgacccgc ttgtggccca gctgcgccag ttctacacat acacactgct cccagccgag
     1321 tccttcttcc acacggtgct ggagaacagc ctggcctgtg agaccctcgt ggacaacaac
     1381 ctgcgggtca ccaactggaa ccgcaagctg ggctgcaagt gccagtacaa gcacattgtg
     1441 gactggtgtg gctgctcccc caacgacttc aagccacagg acttcctccg gctgcagcaa
     1501 gtctccagac ccaccttctt cgcccggaag ttcgagtcga ctgtgaacca ggaggtgctg
     1561 gaaatcctgg acttccacct gtatggcagc tacccccccg gcacgccagc cctcaaggcc
     1621 tactgggaga acacctacga cgcggctgat ggccccagtg ggctcagtga tgtcatgctc
     1681 actgcttaca cagccttcgc ccgcctcagc ctgcaccatg ccgccactgc tgcaccccca
     1741 atgggcaccc cactctgcag gtttgagccc aggggcttgc cgtccagcgt gcacctgtat
     1801 ttctatgacg accatttcca gggctacctg gtgacgcagg cggtgcagcc ctcagcccag
     1861 gggccggcag agacgcttga gatgtggctg atgccccaag ggtcgctgaa gctgttgggg
     1921 cgcagtgacc aggccagccg gctccagagt ctggaggttg gcactgattg ggaccccaaa
     1981 gagcgtcttt tccggaactt tggggggtta ctggggccgc tggacgagcc tgtggccgtg
     2041 cagcgctggg cccggggccc caacctcaca gccacagtgg tctggatcga cccaacctat
     2101 gtggtggcca catcttatga catcacagta gatacggaga ctgaggtcac gcaatacaag
     2161 cccccactga gccggcccct gcggccaggg ccctggactg ttcgactcct tcagttctgg
     2221 gaaccgctgg gtgagacccg cttccttgtg ctgcccttga ccttcaaccg caaactacct
     2281 ctcaggaaag atgatgccag ctggctgcac gcagggccac cccacaacga gtacatggag
     2341 cagagtttcc agggcctgag tagcatcctg aacctgcctc agccggagct cgcggaggag
     2401 gctgcccagc ggcacacaca gctcacaggc cctgcgctcg aggcctggac agacagggaa
     2461 ctgagcagct tctggtccgt ggctggactg tgtgccatag gcccctctcc ctgcccctcc
     2521 ctggagccct gcagactgac cagctggagc tctctgtccc ccgaccccaa atcagagctg
     2581 gggcctgtca aagcagacgg gcgactcagg tagcagggcc ccagccagta cccgtggagg
     2641 acccgggaaa ttgcacctta cagacagtgg aggggtgtcc cctcccacag gcaagaacca
     2701 gaggcccagg ctgcacaccc atttcagcca tcaagaaccc acacagacgg cagggaaggt
     2761 ggacacagta tgaactactg ctgatgtctc tgttggggat cagagggctg gcgggaacgc
     2821 gagaagggca ccagcagcat tccacaccca gctcttcctc accttcctgt ctagtttgaa
     2881 tttctttttt ttcttttttt tttttttttt ttaatttaaa aaggaaaatg ggtggttggg
     2941 agagaaacta gaacagaaga tgtgcaatag ggctcagagc agccccagga agtgggccat
     3001 gtctgtgggg agcaggggct tgctgagccc acctgctatt gttctgcacg aggctgggcc
     3061 tgcctcactc tccagggcct catgccccat tctgggcctg tggtgctcgt ggctgaggct
     3121 ccacagggct gcaagtgccc tgccaggctc taaggcccga agaacaggtg atatcggggg
     3181 cgctgcagag ctgggctcta gcaggacagt tcttttgtag ccaggggacc ctagaagtgg
     3241 ggtggggcgg ctccagggct ttccagcata ccctgcccct ggatgggaaa ggcagggtca
     3301 gggcccactg agacccatgc agagtttcca ggtgtgcact ggaagtgagg tcacatgagc
     3361 agcgtgggaa gaagactctg tcaagactct cagaagaacc tggagtaatt gtgcctgaag
     3421 ctcagcgtga agtctgaaat atgcaacaga agaaatatat ctctatctct ctactctggg
     3481 ctctgtgttt ttcctcctgg gtgtcag
//
