LOCUS       NM_004807               4223 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.
ACCESSION   NM_004807
VERSION     NM_004807.3
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 4223)
  AUTHORS   Hu,S., Xia,C., Zou,H., Ren,W., Liu,L., Wang,L., Kang,Q., He,K.,
            Wang,T. and Zhang,X.
  TITLE     HS6ST1 overexpressed in cancer-associated fibroblast and inhibited
            cholangiocarcinoma progression
  JOURNAL   Dig Liver Dis 55 (8), 1114-1125 (2023)
   PUBMED   36586771
  REMARK    GeneRIF: HS6ST1 overexpressed in cancer-associated fibroblast and
            inhibited cholangiocarcinoma progression.
REFERENCE   2  (bases 1 to 4223)
  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   3  (bases 1 to 4223)
  AUTHORS   Howard,S.R., Oleari,R., Poliandri,A., Chantzara,V., Fantin,A.,
            Ruiz-Babot,G., Metherell,L.A., Cabrera,C.P., Barnes,M.R.,
            Wehkalampi,K., Guasti,L., Ruhrberg,C., Cariboni,A. and Dunkel,L.
  TITLE     HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in
            Contrast With Other GnRH Deficiency Genes
  JOURNAL   J Clin Endocrinol Metab 103 (9), 3420-3429 (2018)
   PUBMED   29931354
  REMARK    GeneRIF: We have linked a deleterious mutation in HS6ST1 to
            familial self-limited delayed puberty and show that heterozygous
            Hs6st1 loss causes delayed puberty in mice. In this study, the
            observed overlap in potentially pathogenic mutations contributing
            to the phenotypes of self-limited delayed puberty and
            hypogonadotropic hypogonadism was limited to this one gene.
REFERENCE   4  (bases 1 to 4223)
  AUTHORS   Ushakov,V.S., Tsidulko,A.Y., de La Bourdonnaye,G., Kazanskaya,G.M.,
            Volkov,A.M., Kiselev,R.S., Kobozev,V.V., Kostromskaya,D.V.,
            Gaytan,A.S., Krivoshapkin,A.L., Aidagulova,S.V. and Grigorieva,E.V.
  TITLE     Heparan Sulfate Biosynthetic System Is Inhibited in Human Glioma
            Due to EXT1/2 and HS6ST1/2 Down-Regulation
  JOURNAL   Int J Mol Sci 18 (11), 2301 (2017)
   PUBMED   29104277
  REMARK    GeneRIF: RT-PCR analysis showed that the overall transcriptional
            activity of the main Heparan Sulfate biosynthesis-involved genes
            (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1,
            HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade
            II-III glioma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4223)
  AUTHORS   Cole,C.L., Rushton,G., Jayson,G.C. and Avizienyte,E.
  TITLE     Ovarian cancer cell heparan sulfate 6-O-sulfotransferases regulate
            an angiogenic program induced by heparin-binding epidermal growth
            factor (EGF)-like growth factor/EGF receptor signaling
  JOURNAL   J Biol Chem 289 (15), 10488-10501 (2014)
   PUBMED   24563483
  REMARK    GeneRIF: HS6ST-1 and HS6ST-2 have roles in regulating the
            angiogenic program in ovarian cancer cells affecting HB-EGF
            signaling and subsequent expression of angiogenic cytokines by
            cancer cells
REFERENCE   6  (bases 1 to 4223)
  AUTHORS   Wu,J.H., Lemaitre,R.N., Manichaikul,A., Guan,W., Tanaka,T., Foy,M.,
            Kabagambe,E.K., Djousse,L., Siscovick,D., Fretts,A.M., Johnson,C.,
            King,I.B., Psaty,B.M., McKnight,B., Rich,S.S., Chen,Y.D.,
            Nettleton,J.A., Tang,W., Bandinelli,S., Jacobs,D.R. Jr.,
            Browning,B.L., Laurie,C.C., Gu,X., Tsai,M.Y., Steffen,L.M.,
            Ferrucci,L., Fornage,M. and Mozaffarian,D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   7  (bases 1 to 4223)
  AUTHORS   Tornberg,J., Sykiotis,G.P., Keefe,K., Plummer,L., Hoang,X.,
            Hall,J.E., Quinton,R., Seminara,S.B., Hughes,V., Van Vliet,G., Van
            Uum,S., Crowley,W.F., Habuchi,H., Kimata,K., Pitteloud,N. and
            Bulow,H.E.
  TITLE     Heparan sulfate 6-O-sulfotransferase 1, a gene involved in
            extracellular sugar modifications, is mutated in patients with
            idiopathic hypogonadotrophic hypogonadism
  JOURNAL   Proc Natl Acad Sci U S A 108 (28), 11524-11529 (2011)
   PUBMED   21700882
  REMARK    GeneRIF: idiopathic hypogonadotrophic hypogonadism--associated
            HS6ST1 mutations display reduced activity in vitro and in vivo,
            suggesting that HS6ST1 and the complex modifications of
            extracellular sugars are critical for normal development
REFERENCE   8  (bases 1 to 4223)
  AUTHORS   Habuchi,H., Miyake,G., Nogami,K., Kuroiwa,A., Matsuda,Y.,
            Kusche-Gullberg,M., Habuchi,O., Tanaka,M. and Kimata,K.
  TITLE     Biosynthesis of heparan sulphate with diverse structures and
            functions: two alternatively spliced forms of human heparan
            sulphate 6-O-sulphotransferase-2 having different expression
            patterns and properties
  JOURNAL   Biochem J 371 (Pt 1), 131-142 (2003)
   PUBMED   12492399
  REMARK    GeneRIF: we have characterized HS6ST-2 and HS6ST-1 human isologues,
            including their chromosomal localizations,HS6STs could also
            transfer sulphate to N -sulphoglucosamine residues located at the
            non-reducing terminal of HS with high affinity.
REFERENCE   9  (bases 1 to 4223)
  AUTHORS   Habuchi,H., Kobayashi,M. and Kimata,K.
  TITLE     Molecular characterization and expression of heparan-sulfate
            6-sulfotransferase. Complete cDNA cloning in human and partial
            cloning in Chinese hamster ovary cells
  JOURNAL   J Biol Chem 273 (15), 9208-9213 (1998)
   PUBMED   9535912
REFERENCE   10 (bases 1 to 4223)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017079.5, DR005030.1,
            BP219645.1, CV569969.1, BC001196.1 and BC063521.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004807.2.
            
            Summary: The protein encoded by this gene is a member of the
            heparan sulfate biosynthetic enzyme family. Heparan sulfate
            biosynthetic enzymes are key components in generating a myriad of
            distinct heparan sulfate fine structures that carry out multiple
            biological activities. This enzyme is a type II integral membrane
            protein and is responsible for 6-O-sulfation of heparan sulfate.
            This enzyme does not share significant sequence similarity with
            other known sulfotransferases. A pseudogene located on chromosome 1
            has been found for this gene. [provided by RefSeq, Jul 2008].
            
            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 :: AB006179.1, BC096239.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259241.7/ ENSP00000259241.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-271               AC017079.5         165112-165382       c
            272-385             DR005030.1         7-120
            386-909             BP219645.1         1-524
            910-1022            CV569969.1         344-456
            1023-3764           BC001196.1         1-2742
            3765-4223           BC063521.1         1798-2256
FEATURES             Location/Qualifiers
     source          1..4223
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     gene            1..4223
                     /gene="HS6ST1"
                     /gene_synonym="HH15; HS6ST"
                     /note="heparan sulfate 6-O-sulfotransferase 1"
                     /db_xref="GeneID:9394"
                     /db_xref="HGNC:HGNC:5201"
                     /db_xref="MIM:604846"
     exon            1..832
                     /gene="HS6ST1"
                     /gene_synonym="HH15; HS6ST"
                     /inference="alignment:Splign:2.1.0"
     CDS             306..1541
                     /gene="HS6ST1"
                     /gene_synonym="HH15; HS6ST"
                     /EC_number="2.8.2.-"
                     /note="heparan-sulfate 6-sulfotransferase; HS6ST-1"
                     /codon_start=1
                     /product="heparan-sulfate 6-O-sulfotransferase 1"
                     /protein_id="NP_004798.3"
                     /db_xref="CCDS:CCDS42748.1"
                     /db_xref="GeneID:9394"
                     /db_xref="HGNC:HGNC:5201"
                     /db_xref="MIM:604846"
                     /translation="MRRRRAGGRTMVERASKFVLVVAGSVCFMLILYQYAGPGLSLGA
                     PGGRAPPDDLDLFPTPDPHYEKKYYFPVRELERSLRFDMKGDDVIVFLHIQKTGGTTF
                     GRHLVQNVRLEVPCDCRPGQKKCTCYRPNRRETWLFSRFSTGWSCGLHADWTELTNCV
                     PGVLDRRDSAALRTPRKFYYITLLRDPVSRYLSEWRHVQRGATWKTSLHMCDGRTPTP
                     EELPPCYEGTDWSGCTLQEFMDCPYNLANNRQVRMLADLSLVGCYNLSFIPEGKRAQL
                     LLESAKKNLRGMAFFGLTEFQRKTQYLFERTFNLKFIRPFMQYNSTRAGGVEVDEDTI
                     RRIEELNDLDMQLYDYAKDLFQQRYQYKRQLERREQRLRSREERLLHRAKEALPREDA
                     DEPGRVPTEDYMSHIIEKW"
     exon            833..4223
                     /gene="HS6ST1"
                     /gene_synonym="HH15; HS6ST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4206..4211
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HS6ST1"
                     /gene_synonym="HH15; HS6ST"
                     /note="hexamer: AATAAA"
     polyA_site      4223
                     /gene="HS6ST1"
                     /gene_synonym="HH15; HS6ST"
                     /note="major polyA site"
ORIGIN      
        1 agagcgttct cggcgcggag tggagcggag cgggctggtg ctgggggcgc ggagagcgct
       61 gtgctggccg gggccgggag cggggccgag cgggagcgga gtcgggcgtc gggcccgggg
      121 agccggggcc gggcggggag cagccatggc accgcggagg gtcggggccc gcgccgctgc
      181 gggcggcctg ggcgccgagt agccgggccg ggccggagcg cgggcggcgg cggaggcagc
      241 tgcgcccgcg cctcctgccc tcccaggccc cgcgccccgc gcccgggccc cggcgatggt
      301 gacacatgcg gcggcggcgc gccggcggca ggaccatggt tgagcgcgcc agcaagttcg
      361 tgctggtggt ggcgggctcg gtgtgcttca tgctcatctt gtaccagtac gcgggcccag
      421 gactgagcct gggcgcgccc ggcggccgcg cgccgcccga cgacctggac ctgttcccca
      481 cacccgaccc ccactacgag aagaagtact acttcccggt ccgcgagctg gagcgctcgc
      541 tgcgcttcga catgaagggc gacgacgtga tcgtcttcct gcacatccag aagacgggcg
      601 gcaccacctt cggccgccac ctcgtgcaga acgtacgcct cgaggtgccg tgcgactgcc
      661 ggcccggcca gaagaagtgc acctgctacc ggcccaaccg ccgcgagact tggctcttct
      721 cccgcttctc caccggctgg agctgcgggc tgcacgccga ctggaccgag ctcaccaact
      781 gcgtgcccgg cgtgctggac cgccgcgact ccgccgcgct gcgcacgccc aggaagttct
      841 actacatcac cctgctacga gaccccgtgt cccgctacct gagcgagtgg cggcatgtgc
      901 agaggggtgc cacgtggaag acgtcgttgc atatgtgtga tgggcgcacg cccacgcctg
      961 aggagctgcc gccctgctac gagggcacgg actggtcggg ctgcacgcta caggagttca
     1021 tggactgccc gtacaacctg gccaacaacc gccaggtgcg catgctggcc gacctgagcc
     1081 tggtgggctg ctacaacctg tccttcatcc ccgagggcaa gcgggcccag ctgctgctcg
     1141 agagcgccaa gaagaacctg cggggcatgg ccttcttcgg cctgaccgag ttccagcgca
     1201 agacgcagta cctgttcgag cggacgttca acctcaagtt catccggccc ttcatgcagt
     1261 acaatagcac gcgggcgggc ggcgtggagg tggatgaaga caccatccgg cgcatcgagg
     1321 agctcaacga cctggacatg cagctgtacg actacgccaa ggacctcttc cagcagcgct
     1381 accagtacaa gcggcagctg gagcgcaggg agcagcgcct gaggagccgc gaggagcgtc
     1441 tgctgcaccg ggccaaggag gcactgccgc gggaggatgc cgacgagccg ggccgcgtgc
     1501 ccaccgagga ctacatgagc cacatcattg agaagtggta gtggcggtgg tggccacggg
     1561 gaggcctctt ggggggtgtg ggggataaaa caggacagac gacaggtcca cccaagactg
     1621 tcaagggatg agcatcccaa acctgctcca cagaggtagc tgcgtcctga aaaaaaacag
     1681 agcagggatg tagtggggct gggcagggat gggggcttga gaaatcaaca ggtgcagccc
     1741 agtgggtcag aggaaagcgt gctcgaagga tgccatggtc agggcagggc ctccagagca
     1801 ggtgttgtgc ctggagctgc tctcctggcc tccttggatt tatcgcaaaa actgaaggtt
     1861 tgcgcaagag acgaggacag cggaaagtgg acctgccagg ccgggagtgt gtccctcacc
     1921 aactatgcac acagcactcg ctcttagctc ctctgtccgg gctactagga gtgagaccag
     1981 cttctggcaa ctgccccagc tccaggccat cccatagccc ctcctcttct ggctgccccc
     2041 aatgccccga ggcctgggga gcccccagct cacccatctg tagctccctc aaagtcaggg
     2101 cccaccccat ctgaggcaga gaagactcga gtccagcccc caggaagcct gctcccctct
     2161 ctggcccatg gtcctgcttc atgctttggg tcaggaggcc aaagctgatg ttcaggcccc
     2221 acccactccc tacagtcctc agaccaagga ggggtttggg tagtaggccc gagctgcatt
     2281 gccggccttc ctcgggccaa ctggcagccc aggagtgggg aggctttggc cagggatgct
     2341 gccacttgtg cgtgagtccg cggctggccc ttggaggtga ccatccaggc aggcctggct
     2401 cagactggaa gggctgggga ccgagggctc ccctgcctct gttctccttt ctgacccact
     2461 gggatttgct agcaggctgc cccagcccca tcaccgaaac acatactcaa gagctcaaat
     2521 accactgctc ccaccagcgt acggattaag ttcatcaggc ttccatcggc tggagcatgg
     2581 gaccatagcc cctgcccagg agccgtaccc tcggaccaca gtggctctgt atggccagga
     2641 actgggactc gagctttcag attctcaact agccttggca aaacagctgt aggtggcctc
     2701 cctgacaaca gacactcagc cctccccacc ctggctctcc ttgcatttcc ccatgctccc
     2761 caccccctgg caaaaggctg gccatgctct gttcccagca gccgcgcagg tttccccact
     2821 ggctgcaatg gccctaccaa aagccatgtt gcatatccgt tgtaagcacg tgccctgtgc
     2881 cctgtcccca ttccttatgc cctaggaggc caagctggtg tctctaggag ggcccacaca
     2941 ggcaccctgg atcccccaga gagtagattg gtgtgctcag gccgcaggct gactcagagg
     3001 tagggcagtg ggctctgcag gccacctggc tggggttggt gggggtcctc tctcctgccc
     3061 cagcttccac tcagccacca cagttgccac accatggggt ggagacgtgg gtcaccacgg
     3121 gcttgggagc aagcgccttc tgcagcacag gaagccgaag ctggggtcag gtgaggtcgc
     3181 tacccctgga ggtctggcat aagggcccca ccctcaggtc tcctacactg gccccatttt
     3241 actttggggt ccaaggacag gatggtcaac agggcagggt ggacagcgtg ccagcgccgc
     3301 gcagggccac ctccctgggt ggatgcatca cactaaggaa gtgagtgcca aggggattta
     3361 gtggtgtggt tctttcaaag ggaggtcagg gtcaatggga atctgctcgg acactcaaca
     3421 tgggggtggg tgcactcctt ggaggaggag gaacacgttc aggggattgt gaggtcttgc
     3481 acaagccacg tggggcacct tggcttcccg gcaggaggtg gacacccagc cagaggcctg
     3541 gctcaaggtg acctcacctt caccatgggc ttcctgggtg cgcgggcctg agcgcaggtt
     3601 gttttgtaca tattggaata tgtgttaact tatgccccgc atcccaactc acacggaagc
     3661 acgggtcttg tctcagtctc ttcgctgcat ttggaaagca gtctcctctc gggccagcgc
     3721 cgggctgagg tgtccagagg cggcggcagc tggcagtgcc ctcagccccc aagtgtccag
     3781 cctggcactt cccattcagg ccacctgctt tgggtcaaca gttcctttgc cagcagcatc
     3841 tcctaaattg taaggactct gtccaccggg gccctcccag ggctgtgagg acggaaacag
     3901 gcagggagtg gagctaacag cttagtcacc aggaccccca gacctgcaaa cgtcccctcc
     3961 tggaagggga agccaggaac agcagaactg cccacaaaac aaggctgtga acttttcggg
     4021 aactggaact gtttaacttg aacccaggat tgtttaaagc tttatttatt tatagcttct
     4081 tcttaaaaaa aagtgttgaa gaaatttttt ggttattcat acaaaaaaat gagttgatga
     4141 tggaaaagca agtcataatc atctaattgt ttttgtctag gtcgagaatg aatgttagct
     4201 gatgaaataa accctgacaa gga
//
