LOCUS       NP_071450                865 aa            linear   PRI 28-APR-2025
DEFINITION  xylosyltransferase 2 [Homo sapiens].
ACCESSION   NP_071450
VERSION     NP_071450.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 865)
  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  (residues 1 to 865)
  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  (residues 1 to 865)
  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  (residues 1 to 865)
  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  (residues 1 to 865)
  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  (residues 1 to 865)
  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  (residues 1 to 865)
  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  (residues 1 to 865)
  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  (residues 1 to 865)
  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 (residues 1 to 865)
  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 Jul 20, 2006 this sequence version replaced NP_071450.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..865
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     Protein         1..865
                     /product="xylosyltransferase 2"
                     /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"
                     /calculated_mol_wt=96636
     Site            16..36
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1B5.2)"
     Region          41..157
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1B5.2)"
     Site            122
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H1B5.2)"
     Region          234..487
                     /region_name="Branch"
                     /note="Core-2/I-Branching enzyme; pfam02485"
                     /db_xref="CDD:426795"
     Site            327
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H1B5.2)"
     Region          519..698
                     /region_name="Xylo_C"
                     /note="Xylosyltransferase C terminal; pfam12529"
                     /db_xref="CDD:463618"
     Site            683
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H1B5.2)"
     Region          846..865
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1B5.2)"
     CDS             1..865
                     /gene="XYLT2"
                     /gene_synonym="PXYLT2; SOS; XT-II; XT2; xylT-II"
                     /coded_by="NM_022167.4:16..2613"
                     /db_xref="CCDS:CCDS11563.1"
                     /db_xref="GeneID:64132"
                     /db_xref="HGNC:HGNC:15517"
                     /db_xref="MIM:608125"
ORIGIN      
        1 mvasarvqkl vrryklaiat alailllqgl vvwsfsglee deagekgrqr kprpldpgeg
       61 skdtdssagr rgstgrrhgr wrgraespgv pvakvvravt srqrasrrvp papppeapgr
      121 qnlsgaaage alvgaagfpp hgdtgsvega pqptdngftp kceivgkdal salarastkq
      181 cqqeianvvc lhqagslmpk avprhcqltg kmspgiqwde sqaqqpmdgp pvriaymlvv
      241 hgrairqlkr llkavyheqh ffyihvdkrs dylhrevvel aqgydnvrvt pwrmvtiwgg
      301 asllrmylrs mrdllevpgw awdffinlsa tdyptrtnee lvaflsknrd knflkshgrd
      361 nsrfikkqgl drlfhecdsh mwrlgerqip agivvdggsd wfvltrsfve yvvytddplv
      421 aqlrqfytyt llpaesffht vlenslacet lvdnnlrvtn wnrklgckcq ykhivdwcgc
      481 spndfkpqdf lrlqqvsrpt ffarkfestv nqevleildf hlygsyppgt palkaywent
      541 ydaadgpsgl sdvmltayta farlslhhaa taappmgtpl crfeprglps svhlyfyddh
      601 fqgylvtqav qpsaqgpaet lemwlmpqgs lkllgrsdqa srlqslevgt dwdpkerlfr
      661 nfggllgpld epvavqrwar gpnltatvvw idptyvvats yditvdtete vtqykpplsr
      721 plrpgpwtvr llqfweplge trflvlpltf nrklplrkdd aswlhagpph neymeqsfqg
      781 lssilnlpqp elaeeaaqrh tqltgpalea wtdrelssfw svaglcaigp spcpslepcr
      841 ltswsslspd pkselgpvka dgrlr
//
