LOCUS       NM_005108               3667 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens xylulokinase (XYLB), transcript variant 2, mRNA.
ACCESSION   NM_005108
VERSION     NM_005108.4
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 3667)
  AUTHORS   Zhang,Z., Su,G., Guo,J., Li,J., Wu,H., Wang,M. and Xie,X.
  TITLE     Pooled genetic analysis reveals an association of SNPs of only a
            few genes with risk predisposition to ischemic stroke in a Chinese
            population
  JOURNAL   IUBMB Life 67 (3), 170-174 (2015)
   PUBMED   25855559
  REMARK    GeneRIF: Single nucleotide polymorphisms in nNOS, renalase, MTHFR,
            CELSR1 and XYLB genes were found significantly associated with
            ischemic stroke in Chinese patients.
REFERENCE   2  (bases 1 to 3667)
  AUTHORS   Verweij,N., Mateo Leach,I., van den Boogaard,M., van
            Veldhuisen,D.J., Christoffels,V.M., Hillege,H.L., van Gilst,W.H.,
            Barnett,P., de Boer,R.A. and van der Harst,P.
  CONSRTM   LifeLines Cohort Study
  TITLE     Genetic determinants of P wave duration and PR segment
  JOURNAL   Circ Cardiovasc Genet 7 (4), 475-481 (2014)
   PUBMED   24850809
REFERENCE   3  (bases 1 to 3667)
  AUTHORS   Bunker,R.D., Bulloch,E.M., Dickson,J.M., Loomes,K.M. and Baker,E.N.
  TITLE     Structure and function of human xylulokinase, an enzyme with
            important roles in carbohydrate metabolism
  JOURNAL   J Biol Chem 288 (3), 1643-1652 (2013)
   PUBMED   23179721
  REMARK    GeneRIF: Xylulose binds to domain-I and ADP to domain-II, but in an
            open form of D-xylulokinase they are 10 A apart, implying that a
            large scale conformational change is required for catalysis.
REFERENCE   4  (bases 1 to 3667)
  AUTHORS   Bunker,R.D., Dickson,J.M., Caradoc-Davies,T.T., Loomes,K.M. and
            Baker,E.N.
  TITLE     Use of a repetitive seeding protocol to obtain diffraction-quality
            crystals of a putative human D-xylulokinase
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 68 (Pt 10),
            1259-1262 (2012)
   PUBMED   23027762
  REMARK    GeneRIF: crystals of D-xylulokinase proved to be trigonal, with
            point-group symmetry 3 and unit-cell parameters a = b = 101.87, c =
            158.85 A degrees
REFERENCE   5  (bases 1 to 3667)
  AUTHORS   Smith,J.G., Lowe,J.K., Kovvali,S., Maller,J.B., Salit,J.,
            Daly,M.J., Stoffel,M., Altshuler,D.M., Friedman,J.M., Breslow,J.L.
            and Newton-Cheh,C.
  TITLE     Genome-wide association study of electrocardiographic conduction
            measures in an isolated founder population: Kosrae
  JOURNAL   Heart Rhythm 6 (5), 634-641 (2009)
   PUBMED   19389651
REFERENCE   6  (bases 1 to 3667)
  AUTHORS   Daigo,Y., Isomura,M., Nishiwaki,T., Tamari,M., Ishikawa,S., Kai,M.,
            Murata,Y., Takeuchi,K., Yamane,Y., Hayashi,R., Minami,M.,
            Fujino,M.A., Hojo,Y., Uchiyama,I., Takagi,T. and Nakamura,Y.
  TITLE     Characterization of a 1200-kb genomic segment of chromosome
            3p22-p21.3
  JOURNAL   DNA Res 6 (1), 37-44 (1999)
   PUBMED   10231028
REFERENCE   7  (bases 1 to 3667)
  AUTHORS   Tamari,M., Daigo,Y., Ishikawa,S. and Nakamura,Y.
  TITLE     Genomic structure of a novel human gene (XYLB) on chromosome
            3p22-->p21.3 encoding a xylulokinase-like protein
  JOURNAL   Cytogenet Cell Genet 82 (1-2), 101-104 (1998)
   PUBMED   9763671
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006193.1 and AP006191.1.
            
            On May 17, 2019 this sequence version replaced NM_005108.3.
            
            Summary: The protein encoded by this gene shares 22% sequence
            identity with Hemophilus influenzae xylulokinase, and even higher
            identity to other gene products in C.elegans (45%) and yeast
            (31-35%), which are thought to belong to a family of enzymes that
            include fucokinase, gluconokinase, glycerokinase and xylulokinase.
            These proteins play important roles in energy metabolism. [provided
            by RefSeq, Aug 2009].
            
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.94698.1, BC052984.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000207870.8/ ENSP00000207870.3
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-141               AP006193.1         52543-52683         c
            142-224             AP006193.1         50836-50918         c
            225-294             AP006193.1         39060-39129         c
            295-375             AP006193.1         36451-36531         c
            376-462             AP006193.1         34183-34269         c
            463-591             AP006193.1         33732-33860         c
            592-657             AP006193.1         32595-32660         c
            658-730             AP006193.1         31211-31283         c
            731-849             AP006193.1         29294-29412         c
            850-931             AP006193.1         26732-26813         c
            932-972             AP006193.1         24966-25006         c
            973-1088            AP006193.1         24209-24324         c
            1089-1204           AP006193.1         23236-23351         c
            1205-1278           AP006193.1         22477-22550         c
            1279-1375           AP006193.1         20126-20222         c
            1376-1434           AP006193.1         3905-3963           c
            1435-1522           AP006193.1         2309-2396           c
            1523-1617           AP006191.1         4014-4108
            1618-3667           AP006191.1         16059-18108
FEATURES             Location/Qualifiers
     source          1..3667
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     gene            1..3667
                     /gene="XYLB"
                     /note="xylulokinase"
                     /db_xref="GeneID:9942"
                     /db_xref="HGNC:HGNC:12839"
                     /db_xref="MIM:604049"
     exon            1..141
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1695
                     /gene="XYLB"
                     /EC_number="2.7.1.17"
                     /note="isoform 2 is encoded by transcript variant 2;
                     xylulose kinase; xylulokinase homolog (H. influenzae);
                     D-xylulokinase"
                     /codon_start=1
                     /product="xylulose kinase isoform 2"
                     /protein_id="NP_005099.2"
                     /db_xref="CCDS:CCDS2678.1"
                     /db_xref="GeneID:9942"
                     /db_xref="HGNC:HGNC:12839"
                     /db_xref="MIM:604049"
                     /translation="MAEHAPRRCCLGWDFSTQQVKVVAVDAELNVFYEESVHFDRDLP
                     EFGTQGGVHVHKDGLTVTSPVLMWVQALDIILEKMKASGFDFSQVLALSGAGQQHGSI
                     YWKAGAQQALTSLSPDLRLHQQLQDCFSISDCPVWMDSSTTAQCRQLEAAVGGAQALS
                     CLTGSRAYERFTGNQIAKIYQQNPEAYSHTERISLVSSFAASLFLGSYSPIDYSDGSG
                     MNLLQIQDKVWSQACLGACAPHLEEKLSPPVPSCSVVGAISSYYVQRYGFPPGCKVVA
                     FTGDNPASLAGMRLEEGDIAVSLGTSDTLFLWLQEPMPALEGHIFCNPVDSQHYMALL
                     CFKNGSLMREKIRNESVSRSWSDFSKALQSTEMGNGGNLGFYFDVMEITPEIIGRHRF
                     NTENHKVAAFPGDVEVRALIEGQFMAKRIHAEGLGYRVMSKTKILATGGASHNREILQ
                     VLADVFDAPVYVIDTANSACVGSAYRAFHGLAGGTDVPFSEVVKLAPNPRLAATPSPG
                     ASQVYEALLPQYAKLEQRILSQTRGPPE"
     exon            142..224
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            225..294
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            295..375
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            376..462
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            463..591
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            592..657
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            658..730
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            731..849
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            850..931
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            932..972
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1088
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1204
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1278
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1375
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1434
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1522
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1617
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..3667
                     /gene="XYLB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1977..1982
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XYLB"
                     /note="hexamer: AATAAA"
     polyA_site      2004
                     /gene="XYLB"
                     /note="major polyA site"
     regulatory      3234..3239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XYLB"
                     /note="hexamer: AATAAT"
     polyA_site      3255
                     /gene="XYLB"
                     /note="major polyA site"
     regulatory      3291..3296
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XYLB"
                     /note="hexamer: AATGAA"
     polyA_site      3311
                     /gene="XYLB"
     regulatory      3448..3453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XYLB"
                     /note="hexamer: AAGAAA"
     polyA_site      3470
                     /gene="XYLB"
ORIGIN      
        1 gtctctgggc gctggagcgc ggcgactatc acgccgcgtg gcggacggac ggactgacgg
       61 acgcgcagcc ttacccgaaa ggccatggcg gagcacgccc ctcgccgctg ctgcctgggc
      121 tgggacttca gcacgcagca ggtaaaggtt gttgctgttg atgcagagtt gaatgtcttc
      181 tatgaggaaa gtgtgcattt tgacagagat cttccagaat ttgggactca gggtggtgtt
      241 catgtgcaca aggatgggct gacggtcact tctccagtac taatgtgggt ccaggcactg
      301 gatatcatct tggagaagat gaaggcttcg ggcttcgact tctctcaagt cctagccttg
      361 tccggggcgg gccagcaaca cggaagtata tactggaagg ctggagccca gcaggcactg
      421 acaagcttat caccagacct ccggctacac cagcagctgc aggactgttt ctccatcagc
      481 gactgcccgg tgtggatgga ctccagcacc acagcccagt gccgccagct ggaggctgct
      541 gtgggtggtg ctcaggctct cagctgcctc acggggtccc gtgcctatga gcgttttaca
      601 gggaaccaaa ttgcaaaaat ttaccagcag aaccccgagg cctactcaca tacggagaga
      661 atttctttgg tcagtagctt tgctgcttcc ctgttccttg gctcttactc ccctattgac
      721 tacagtgatg gttctggaat gaatttgttg cagatacagg ataaagtctg gtcccaggct
      781 tgccttggtg cctgtgcacc tcatttagag gagaagctta gcccaccagt accatcatgc
      841 tcagttgtgg gagccatttc ttcctactac gtccagcgct acggatttcc tccaggatgc
      901 aaagtggtgg ccttcactgg ggacaaccca gcgtcgctgg caggcatgag actggaggaa
      961 ggtgacattg cggtcagcct gggcaccagt gacaccctgt ttctctggct ccaagagccc
     1021 atgcctgccc tggaaggcca catcttctgc aacccggttg actcccagca ctacatggca
     1081 ctcctgtgct ttaaaaatgg ctccctcatg agagagaaga tccgcaacga gtctgtatcc
     1141 cgttcctgga gcgatttctc taaggcactg cagtccacag agatgggcaa cggtggaaac
     1201 ctgggttttt attttgatgt aatggagatc acccctgaaa ttattggacg tcataggttt
     1261 aacacagaaa accacaaggt tgcagcattc cctggggatg tggaggttcg agcactaatt
     1321 gaaggacaat tcatggccaa gaggattcac gcagaaggcc tgggctatcg agtcatgtcc
     1381 aagacaaaga ttttggccac aggaggagca tctcacaata gagaaatctt acaggtgctt
     1441 gcagatgtgt ttgatgcccc ggtgtatgtt atagacactg ccaactcggc ctgtgtgggt
     1501 tctgcatacc gagcttttca tggtcttgca ggtggaacag atgtgccctt ttcagaggtt
     1561 gtgaagttag ctccaaatcc cagactagct gctaccccaa gcccgggagc ttctcaggtc
     1621 tacgaggccc ttctccccca gtatgccaaa ctcgagcaga gaatcttgtc tcagacccgg
     1681 gggcctccgg agtgaacagg catccctgtt gcccctgcct gcccagattt actgacccca
     1741 tttgtcgaca tggccccaga caggagggat ccacttctct gttctgaaca gctcttcctg
     1801 cccctactga ctccttggag tgtccaggac catcttaaag ccgccctcag cacatctgca
     1861 tgaagataga taggcactcc tgtccctgtg cccgtgtgcc ccagggcagg aaagcatctc
     1921 tcttttcctg tcttttatcc caggaggcag gacaacactg agactgggat atgtccaata
     1981 aaaactatga cttttcccct tgcagaggca gaattaaagc taatctaggg actcaaatca
     2041 gcagaatggg ggagacaaag cccggtctca ccccctaacc tcatcctatc tctttctcca
     2101 accctgactg cccactcctc cacaaaccgt gacccatagc cgcccccacc ccataccttg
     2161 atctaccatc catcctcttc cccaatccaa accccacagt ctcttctctc ccacaccctg
     2221 ccctccttgt ttcagctgtc tgaggtgcct cgcagggcct ctcttacttg ccccatgctc
     2281 accctttcca tgctgtcccc attctctcct ttcaccatct ctcctctccc cctccttcat
     2341 ctctcctccc tccccaaact cacttggcat aattcacaac ctcccaccca aacaatgggc
     2401 ctggtggacg tgcttcctgt gccctccctt tagctatgcc cacagatcac tgagagggac
     2461 catctcccaa gtggtgcagt ttagaacttc tctccctttt tctccctcat tccctctctc
     2521 ttcttgcagt ccacttgctg aagaagttgt gtcatttctc tggaagaatt tccaaaattc
     2581 tggatttctt ttttattttg gagtatttca tcagctgaaa agtgattctc actttgagtt
     2641 ttcttcctat atttgtatag tgagttcctt tttccttcct ctttatccct cctgttttac
     2701 tttatacctc tctattcctt gctcaaatta ttgcaaaagc ctctatagaa agtcctctgt
     2761 gatctgactc ctgcagactc ttccagattt ttctgcccaa ggcctttact gagctcagga
     2821 ctccagctaa atcaaaatac gcatgttctc acccagagtg acaaaatcct gcagataggt
     2881 ttaagaccta gtggctcaga gcagtagcta ctgggaagtt aaaaggaagg ggcttagaaa
     2941 atgaatggga ccaaaggcat cacttctgat ggagatgaag ccatcttgaa agtgagtggt
     3001 gtcctttgga ggcatggtgg atgaaaggcg caaaggaagc aagaggttaa agataatggc
     3061 ccattagata caacagcaag cccaagattc cgaagaagac agacaactcc ccctagtacc
     3121 acctagacat tactttttaa agacatttta cattattgtc cagcagaaaa aggctgtctt
     3181 ggaccatgaa acagtaaact gtaactaaac acttcaacat gaatttgaaa ataaataatt
     3241 gtggatataa aagaacacca gagatcagaa attcaaaaac tcagaataaa aatgaaaaag
     3301 ctacaagcat atatgagaag agaactgact gaacttggga aataatttga acaaaaagat
     3361 aaatcttcac agatatgaat actaaattat atcttaatga aaatagatat ggtcacaagt
     3421 acattaaggc acgtagaagg taggagtaag aaaagctaag agaagcaaaa caaacaaagc
     3481 aatattaaag gaagagccaa aaagacccag aaataaaatg acagataaag aagattgtca
     3541 aagaaaagat gatacaggta agattggaac tcatgaagac aaaagataag acagtggcat
     3601 agagttaata tttaaaattc aaatattaaa actcaaataa accccaaaga acttttggaa
     3661 aacaaaa
//
