LOCUS       NM_004455               4020 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens exostosin like glycosyltransferase 1 (EXTL1), mRNA.
ACCESSION   NM_004455
VERSION     NM_004455.3
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 4020)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4020)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   3  (bases 1 to 4020)
  AUTHORS   Mathysen,D., Van Roy,N., Van Hul,W., Laureys,G., Ambros,P.,
            Speleman,F. and Wuyts,W.
  TITLE     Molecular analysis of the putative tumour-suppressor gene EXTL1 in
            neuroblastoma patients and cell lines
  JOURNAL   Eur J Cancer 40 (8), 1255-1261 (2004)
   PUBMED   15110891
REFERENCE   4  (bases 1 to 4020)
  AUTHORS   Zak,B.M., Crawford,B.E. and Esko,J.D.
  TITLE     Hereditary multiple exostoses and heparan sulfate polymerization
  JOURNAL   Biochim Biophys Acta 1573 (3), 346-355 (2002)
   PUBMED   12417417
  REMARK    Review article
REFERENCE   5  (bases 1 to 4020)
  AUTHORS   Kim,B.T., Kitagawa,H., Tamura,J., Saito,T., Kusche-Gullberg,M.,
            Lindahl,U. and Sugahara,K.
  TITLE     Human tumor suppressor EXT gene family members EXTL1 and EXTL3
            encode alpha 1,4- N-acetylglucosaminyltransferases that likely are
            involved in heparan sulfate/ heparin biosynthesis
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7176-7181 (2001)
   PUBMED   11390981
REFERENCE   6  (bases 1 to 4020)
  AUTHORS   Xu,L., Xia,J., Jiang,H., Zhou,J., Li,H., Wang,D., Pan,Q., Long,Z.,
            Fan,C. and Deng,H.X.
  TITLE     Mutation analysis of hereditary multiple exostoses in the Chinese
  JOURNAL   Hum Genet 105 (1-2), 45-50 (1999)
   PUBMED   10480354
REFERENCE   7  (bases 1 to 4020)
  AUTHORS   Wuyts,W., Spieker,N., Van Roy,N., De Boulle,K., De Paepe,A.,
            Willems,P.J., Van Hul,W., Versteeg,R. and Speleman,F.
  TITLE     Refined physical mapping and genomic structure of the EXTL1 gene
  JOURNAL   Cytogenet Cell Genet 86 (3-4), 267-270 (1999)
   PUBMED   10575224
REFERENCE   8  (bases 1 to 4020)
  AUTHORS   Wise,C.A., Clines,G.A., Massa,H., Trask,B.J. and Lovett,M.
  TITLE     Identification and localization of the gene for EXTL, a third
            member of the multiple exostoses gene family
  JOURNAL   Genome Res 7 (1), 10-16 (1997)
   PUBMED   9037597
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391650.18, DA182373.1,
            BC065528.1 and R67266.1.
            
            On May 17, 2019 this sequence version replaced NM_004455.2.
            
            Summary: This gene is a member of the multiple exostoses (EXT)
            family of glycosyltransferases, which function in the chain
            polymerization of heparan sulfate and heparin. The encoded protein
            harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is
            involved in chain elongation of heparan sulfate and possibly
            heparin. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC065528.1, SRR1660805.63052.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374280.4/ ENSP00000363398.3
            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
            1-5                 AL391650.18        7276-7280
            6-159               DA182373.1         17-170
            160-4004            BC065528.1         1-3845
            4005-4020           R67266.1           7-22                c
FEATURES             Location/Qualifiers
     source          1..4020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..4020
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /note="exostosin like glycosyltransferase 1"
                     /db_xref="GeneID:2134"
                     /db_xref="HGNC:HGNC:3515"
                     /db_xref="MIM:601738"
     exon            1..1651
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     CDS             873..2903
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /EC_number="2.4.1.224"
                     /note="glucuronosyl-N-acetylglucosaminyl-proteoglycan
                     4-alpha-N- acetylglucosaminyltransferase;
                     alpha-N-acetylglucosaminyltransferase II;
                     glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N-
                     acetylglucosaminyltransferase; exostosin-L; multiple
                     exostosis-like protein; exostoses (multiple)-like 1"
                     /codon_start=1
                     /product="exostosin-like 1"
                     /protein_id="NP_004446.2"
                     /db_xref="CCDS:CCDS271.1"
                     /db_xref="GeneID:2134"
                     /db_xref="HGNC:HGNC:3515"
                     /db_xref="MIM:601738"
                     /translation="MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQ
                     GWPRWLDAELLQSFSQPGELPEDAVSPPQAPHGGSCNWESCFDTSKCRGDGLKVFVYP
                     AVGTISETHRRILASIEGSRFYTFSPAGACLLLLLSLDAQTGECSSMPLQWNRGRNHL
                     VLRLHPAPCPRTFQLGQAMVAEASPTVDSFRPGFDVALPFLPEAHPLRGGAPGQLRQH
                     SPQPGVALLALEEERGGWRTADTGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLIS
                     GHRPEAASRFLQALQAGCIPVLLSPRWELPFSEVIDWTKAAIVADERLPLQVLAALQE
                     MSPARVLALRQQTQFLWDAYFSSVEKVIHTTLEVIQDRIFGTSAHPSLLWNSPPGALL
                     ALSTFSTSPQDFPFYYLQQGSRPEGRFSALIWVGPPGQPPLKLIQAVAGSQHCAQILV
                     LWSNERPLPSRWPETAVPLTVIDGHRKVSDRFYPYSTIRTDAILSLDARSSLSTSEVD
                     FAFLVWQSFPERMVGFLTSSHFWDEAHGGWGYTAERTNEFSMVLTTAAFYHRYYHTLF
                     THSLPKALRTLADEAPTCVDVLMNFIVAAVTKLPPIKVPYGKQRQEAAPLAPGGPGPR
                     PKPPAPAPDCINQIAAAFGHMPLLSSRLRLDPVLFKDPVSVQRKKYRSLEKP"
     exon            1652..1745
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            1746..1853
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            1854..1973
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            1974..2106
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            2107..2213
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            2214..2303
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            2304..2390
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            2391..2551
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            2552..2720
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     exon            2721..4020
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3978..3983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /note="hexamer: AATAAA"
     polyA_site      4004
                     /gene="EXTL1"
                     /gene_synonym="EXTL"
                     /note="major polyA site"
ORIGIN      
        1 agttgccgac tggagaggga tgggaggaga taccataggg tttggggggc ttggcacagc
       61 ggccctggcc tctgcactgt gatagctcca agccagatgg tgcaaggcag ctgctgggct
      121 gcggggaaga ggggctgcac ttcctgagct ggtgcagcgg cagagtggat aaggatcagg
      181 accccgagcc ctcctggccc tccaaggcag ggggacaccg gctgcaccca ggctgtgacc
      241 tcagctgacg ccgatgatcc acatgggatg cagggtctaa ttttagctcc agccacaggg
      301 gccacagccc agaagcgtct gccagcgggc acaggggcag ccagggctgc tcaggcaagg
      361 ggaggagtgg gaagaccagc ccagctccct ccagcctgtc cctggccaag ccgcctcctg
      421 tgggagctct gactggtccc catggcctgg cagacagccc tcctctcagt tgagggcaag
      481 gtcaaggggt gcagccagga gggcaggggg acacggccct gcattctgga caggggttgc
      541 gtcagccaga gcagtgccca ggggcagggg tccctgctgg gagggaaaag gctggcttgg
      601 ttgtccaaag gccgagaagg cagagtcctg agagcagggg ggccaggcca gcaagctggg
      661 tcccacctgg cctcctcctg cctggctggt gactcactat ctgaccttag acaggcggcc
      721 tggtctcgat gggcctcagt cttcccatct gtacaatgac agcacaggac tagcaggtcg
      781 gtcccagctc tggtctcccg ccccaggccc tgctcttcct gcttgctggc agaggcctcc
      841 cagcttccct agccctgact gtgggtggcc acatgcagtc gtggaggaga agaaagtccc
      901 tgtggctggc actgtcagcc tcctggctcc tgcttgtcct gctgggaggc ttctcccttc
      961 tccgcctggc attgcctccc agacctcggc ccggggcttc ccaaggctgg ccccgctggc
     1021 tggatgcaga gctcctgcag agcttctccc agcctggaga gctcccagaa gatgccgttt
     1081 cacctcctca agcccctcat ggtggcagct gcaactggga atcttgcttt gatacctcaa
     1141 agtgcagggg cgatggcctt aaggtattcg tgtacccagc ggttggaacc atctctgaga
     1201 ctcatcgcag gatcctggct tccattgagg gctctcgctt ctacacattc agccctgctg
     1261 gggcctgcct cctcctcctc ctcagcctgg acgcccagac tggagagtgc agctcaatgc
     1321 ctctgcaatg gaacaggggc aggaaccatc tggtcctccg tctccacccg gctccctgcc
     1381 ccaggacctt ccagctggga caggctatgg tggctgaggc cagccccacg gtggactcct
     1441 tccggcccgg ctttgatgtg gccctccctt ttctccctga agcccacccg ttgcgaggtg
     1501 gggctcctgg ccagctgcgg caacacagcc cccagcccgg ggtagccctg ctagccctgg
     1561 aagaggagag gggtgggtgg cgcacagcag acactggctc ctctgcctgc ccctgggatg
     1621 ggcgctgtga gcaagaccct ggacctgggc agacccagcg ccaggagacg ctgcccaatg
     1681 ccaccttctg cctcatctct ggccaccgtc ccgaggctgc ctcgcgcttc ctccaagccc
     1741 tgcaggccgg ctgcatccca gtgcttctca gcccccgctg ggagctgccc ttctccgagg
     1801 tcatcgactg gaccaaggca gccatcgtag ctgatgagag gctcccactt caggtcctgg
     1861 ctgccctcca ggagatgtcc cctgcacggg tcctcgccct gcgtcagcag acccagtttc
     1921 tatgggatgc ctacttctcc tcagtggaga aggtcatcca taccactctg gaggttattc
     1981 aggaccggat ttttggaaca tcagctcacc cctcactgct gtggaacagc cccccagggg
     2041 cactcctggc cctgtctact ttttccacaa gcccccagga cttccccttc tactacctgc
     2101 aacagggctc ccgccctgag ggcagattca gcgccctgat ctgggtgggg cccccaggcc
     2161 agccccctct gaagctcatc caggcggtgg caggctccca gcactgtgcc cagatcttgg
     2221 ttctctggag caatgagagg ccactcccat ccaggtggcc ggagacagct gtgcccttga
     2281 cagtcattga tgggcacagg aaggttagtg atcgcttcta cccatatagc accatcagaa
     2341 cagatgccat cctcagcctc gatgcccgca gcagtctttc cacaagtgag gtggactttg
     2401 cctttctggt gtggcagagc ttcccagagc ggatggtggg cttcctgacg tcgagccatt
     2461 tctgggacga ggcccatggt ggctggggct acactgctga gaggaccaac gaattctcca
     2521 tggttctcac cacagccgcc ttctaccata ggtattacca cactctcttc acccactccc
     2581 tgcccaaggc tctgaggacc ctggcagatg aggcacccac ctgtgtggac gtcctgatga
     2641 atttcatagt agcagcagtc accaagctgc cccctatcaa ggtgccctat ggcaagcagc
     2701 gccaggaggc tgctccactg gcgcctgggg gcccggggcc caggccaaag ccgcctgccc
     2761 cagcccccga ctgcatcaac cagatagcgg cagcgttcgg ccacatgccc ttgctgtcct
     2821 ctcgtctgcg tctggacccg gtgctgttta aggacccggt gtccgtgcag cgcaagaagt
     2881 accgcagcct ggagaagccc taggggggcg acccgcggag accccagcag aggtcgcagc
     2941 ccagctccca gggggcccgg cgcctgccgg cgggctccgc tcttgggaca ccggagaacc
     3001 tatcatgtca gccagcgggc ccacacgtcg gaccccggtt ggccaatcac aacagggggg
     3061 cgtggcctta ccttctcctg ctcgccctca gccgcggagc ctctgcggag gctgagcccc
     3121 gcgaccggag cgccgctctc cgcttctcca cccagctaac ttctgctcgt ctttcagagc
     3181 attgtctcct ccagggactt gcctggccct cctccccctc cgcccccaat gggttcggtc
     3241 tcctttgcgc tttcgcagtc cagtgtttgc cgcggttccc gcacggtcag gccccaggac
     3301 tggcttgcga gccccggggg gcgggtcgtg tcgtgtcctt ttctctctgg ctaggcaggt
     3361 gtgccgcaaa tatttgacga atagatggat ggcagacatt aactgcgtgc ctggccctat
     3421 gagggcggcg gcgggacagg gtgagcggag agacagaact gtccccgccc caccccgcca
     3481 cccattccta gggttcctag tcccgggaag gcaactaccc aaagacgcct gggttgtcag
     3541 gctcaatcct tgagcctcaa ccaaggagca gaggggtgcg ggtaaacgag gagtggggcg
     3601 aggaaagcgg gatgggaaca agtggcctgt ccccgcacgg cccgcggctc agcctcggcc
     3661 gtctgccctg cactaccaag gccgaccact agaggtcagc gtcgcgccgc actcttcacc
     3721 cgcatgtcca gagggcggcc gggatgtgga gggtgagcgc tgtgggcagc tcgggggctg
     3781 aaagctggga agagaaatct gaagaacagc cccatctctt tcgcctgcac acttggaact
     3841 cagcaagaag ggactgtttc taggtgggct gggcgcgagc agggactgtc ccgagcggta
     3901 taggtgagaa tggagttggg gggggacact aggtcctccg gggttcaccc acctggagct
     3961 ggaattatca cttccgaaat aaagcgcgtg tccttgcccc ctcacgctcc aggctataaa
//
