LOCUS       NM_130468               2175 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens carbohydrate sulfotransferase 14 (CHST14), mRNA.
ACCESSION   NM_130468
VERSION     NM_130468.4
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 2175)
  AUTHORS   Minatogawa,M., Unzaki,A., Morisaki,H., Syx,D., Sonoda,T.,
            Janecke,A.R., Slavotinek,A., Voermans,N.C., Lacassie,Y.,
            Mendoza-Londono,R., Wierenga,K.J., Jayakar,P., Gahl,W.A.,
            Tifft,C.J., Figuera,L.E., Hilhorst-Hofstee,Y., Maugeri,A.,
            Ishikawa,K., Kobayashi,T., Aoki,Y., Ohura,T., Kawame,H., Kono,M.,
            Mochida,K., Tokorodani,C., Kikkawa,K., Morisaki,T., Kobayashi,T.,
            Nakane,T., Kubo,A., Ranells,J.D., Migita,O., Sobey,G., Kaur,A.,
            Ishikawa,M., Yamaguchi,T., Matsumoto,N., Malfait,F., Miyake,N. and
            Kosho,T.
  TITLE     Clinical and molecular features of 66 patients with
            musculocontractural Ehlers-Danlos syndrome caused by pathogenic
            variants in CHST14 (mcEDS-CHST14)
  JOURNAL   J Med Genet 59 (9), 865-877 (2022)
   PUBMED   34815299
  REMARK    GeneRIF: Clinical and molecular features of 66 patients with
            musculocontractural Ehlers-Danlos syndrome caused by pathogenic
            variants in CHST14 (mcEDS-CHST14).
REFERENCE   2  (bases 1 to 2175)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   3  (bases 1 to 2175)
  AUTHORS   Lautrup,C.K., Teik,K.W., Unzaki,A., Mizumoto,S., Syx,D., Sin,H.H.,
            Nielsen,I.K., Markholt,S., Yamada,S., Malfait,F., Matsumoto,N.,
            Miyake,N. and Kosho,T.
  TITLE     Delineation of musculocontractural Ehlers-Danlos Syndrome caused by
            dermatan sulfate epimerase deficiency
  JOURNAL   Mol Genet Genomic Med 8 (5), e1197 (2020)
   PUBMED   32130795
  REMARK    GeneRIF: Delineation of musculocontractural Ehlers-Danlos Syndrome
            caused by dermatan sulfate epimerase deficiency.
REFERENCE   4  (bases 1 to 2175)
  AUTHORS   Uehara,M., Kosho,T., Yamamoto,N., Takahashi,H.E., Shimakura,T.,
            Nakayama,J., Kato,H. and Takahashi,J.
  TITLE     Spinal manifestations in 12 patients with musculocontractural
            Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency
            (mcEDS-CHST14)
  JOURNAL   Am J Med Genet A 176 (11), 2331-2341 (2018)
   PUBMED   30195269
  REMARK    GeneRIF: Patients with musculocontractural Ehlers-Danlos
            syndrome-CHST14 are susceptible to develop scoliosis, thoracolumbar
            kyphosis.
REFERENCE   5  (bases 1 to 2175)
  AUTHORS   Tykesson,E., Hassinen,A., Zielinska,K., Thelin,M.A., Frati,G.,
            Ellervik,U., Westergren-Thorsson,G., Malmstrom,A., Kellokumpu,S.
            and Maccarana,M.
  TITLE     Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1
            form complexes that generate long epimerized 4-O-sulfated blocks
  JOURNAL   J Biol Chem 293 (35), 13725-13735 (2018)
   PUBMED   29976758
  REMARK    GeneRIF: DS-epi1, DS-epi2, and D4ST1 form homomers and are all part
            of a hetero-oligomeric complex where D4ST1 directly interacts with
            DS-epi1, but not with DS-epi2. The cooperation of DS-epi1 with
            D4ST1 may therefore explain the processive mode of the formation of
            iduronic acid blocks.
REFERENCE   6  (bases 1 to 2175)
  AUTHORS   Dundar,M., Muller,T., Zhang,Q., Pan,J., Steinmann,B., Vodopiutz,J.,
            Gruber,R., Sonoda,T., Krabichler,B., Utermann,G., Baenziger,J.U.,
            Zhang,L. and Janecke,A.R.
  TITLE     Loss of dermatan-4-sulfotransferase 1 function results in adducted
            thumb-clubfoot syndrome
  JOURNAL   Am J Hum Genet 85 (6), 873-882 (2009)
   PUBMED   20004762
  REMARK    GeneRIF: dermatan-4-sulfotransferase 1 has a role in adducted
            thumb-clubfoot syndrome
REFERENCE   7  (bases 1 to 2175)
  AUTHORS   Pacheco,B., Maccarana,M. and Malmstrom,A.
  TITLE     Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of
            iduronic acid blocks in dermatan sulfate
  JOURNAL   Glycobiology 19 (11), 1197-1203 (2009)
   PUBMED   19661164
  REMARK    GeneRIF: D4ST-1 is a key enzyme and is indispensable in the
            formation of important functional domains in dermatan sulfate and
            cannot be compensated by other 4-O-sulfotransferases
REFERENCE   8  (bases 1 to 2175)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   9  (bases 1 to 2175)
  AUTHORS   Mikami,T., Mizumoto,S., Kago,N., Kitagawa,H. and Sugahara,K.
  TITLE     Specificities of three distinct human chondroitin/dermatan
            N-acetylgalactosamine 4-O-sulfotransferases demonstrated using
            partially desulfated dermatan sulfate as an acceptor: implication
            of differential roles in dermatan sulfate biosynthesis
  JOURNAL   J Biol Chem 278 (38), 36115-36127 (2003)
   PUBMED   12847091
  REMARK    GeneRIF: human D4ST-1, C4ST-1, and S4ST-2 have differential roles
            in dermatan sulfate biosynthesis
REFERENCE   10 (bases 1 to 2175)
  AUTHORS   Evers,M.R., Xia,G., Kang,H.G., Schachner,M. and Baenziger,J.U.
  TITLE     Molecular cloning and characterization of a dermatan-specific
            N-acetylgalactosamine 4-O-sulfotransferase
  JOURNAL   J Biol Chem 276 (39), 36344-36353 (2001)
   PUBMED   11470797
  REMARK    GeneRIF: D4ST-1 is encoded by a single exon located on human
            chromosome 15q14; type II membrane protein of 376 amino acids with
            a 43-amino acid cytoplasmic domain and a 316-amino acid luminal
            domain containing two potential N-linked glycosylation sites
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR997569.1 and AB066595.1.
            
            On Nov 22, 2019 this sequence version replaced NM_130468.3.
            
            Summary: This gene encodes a member of the HNK-1 family of
            sulfotransferases. The encoded protein transfers sulfate to the C-4
            hydroxyl of N-acetylgalactosamine residues in dermatan sulfate.
            Mutations in this gene have been associated with adducted
            thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010].
            
            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 is intronless :: AB066595.1, BC053633.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306243.7/ ENSP00000307297.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                CR997569.1         24-37
            15-2175             AB066595.1         1-2161
FEATURES             Location/Qualifiers
     source          1..2175
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..2175
                     /gene="CHST14"
                     /gene_synonym="ATCS; D4ST1; EDSMC1; HNK1ST"
                     /note="carbohydrate sulfotransferase 14"
                     /db_xref="GeneID:113189"
                     /db_xref="HGNC:HGNC:24464"
                     /db_xref="MIM:608429"
     exon            1..2175
                     /gene="CHST14"
                     /gene_synonym="ATCS; D4ST1; EDSMC1; HNK1ST"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1361
                     /gene="CHST14"
                     /gene_synonym="ATCS; D4ST1; EDSMC1; HNK1ST"
                     /EC_number="2.8.2.35"
                     /note="dermatan 4 sulfotransferase 1; carbohydrate
                     (N-acetylgalactosamine 4-0) sulfotransferase 14;
                     carbohydrate (dermatan 4) sulfotransferase 14"
                     /codon_start=1
                     /product="carbohydrate sulfotransferase 14"
                     /protein_id="NP_569735.1"
                     /db_xref="CCDS:CCDS10059.1"
                     /db_xref="GeneID:113189"
                     /db_xref="HGNC:HGNC:24464"
                     /db_xref="MIM:608429"
                     /translation="MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSM
                     LMFAVIVASSGLLLMIERGILAEMKPLPLHPPGREGTAWRGKAPKPGGLSLRAGDADL
                     QVRQDVRNRTLRAVCGQPGMPRDPWDLPVGQRRTLLRHILVSDRYRFLYCYVPKVACS
                     NWKRVMKVLAGVLDSVDVRLKMDHRSDLVFLADLRPEEIRYRLQHYFKFLFVREPLER
                     LLSAYRNKFGEIREYQQRYGAEIVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPERMN
                     EHWMPVYHLCQPCAVHYDFVGSYERLEADANQVLEWVRAPPHVRFPARQAWYRPASPE
                     SLHYHLCSAPRALLQDVLPKYILDFSLFAYPLPNVTKEACQQ"
     regulatory      2154..2159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHST14"
                     /gene_synonym="ATCS; D4ST1; EDSMC1; HNK1ST"
                     /note="hexamer: AATAAA"
     polyA_site      2175
                     /gene="CHST14"
                     /gene_synonym="ATCS; D4ST1; EDSMC1; HNK1ST"
                     /note="major polyA site"
ORIGIN      
        1 ggccgggcgg gacatccggc ccgggtccct cgccgcgccc gccgcccgcc gcccgcttcg
       61 gcgccgcagc ccgggagccg gccaccccta cacgcgccag ggctgtcccc tgccctcccc
      121 tccccaacta cccccggtcc cagaccctcc tcccgccccc agcccgagcc cgccttccag
      181 gccgccctcg gatcggccgg gcccgcgcag gcccccaccc cttgagcacc atgttccccc
      241 gcccgctgac cccgctggcg gccccaaatg gcgccgagcc cctgggccgg gcgctgaggc
      301 gggcccctct gggcagggcc cgggcggggc tgggtgggcc gcccctgctg ctgccgtcca
      361 tgctgatgtt tgcggtgatc gtggcctcca gcgggctgct gctcatgatc gagcggggca
      421 tcctggccga gatgaagccc ctgcccctgc acccgcccgg ccgcgagggc acagcctggc
      481 gcgggaaagc ccccaagcct gggggcctgt ccctcagggc tggggacgcg gacttgcaag
      541 tgcggcagga cgtccggaac aggaccctgc gggcggtgtg cggacagcca ggcatgcccc
      601 gggacccctg ggacttgccg gtggggcagc ggcgcaccct gctgcgccac atcctcgtaa
      661 gtgaccgtta ccgcttcctc tactgctacg tccccaaggt ggcctgctct aactggaagc
      721 gggtgatgaa ggtgctggca ggcgtcctgg acagcgtgga cgtccgcctc aagatggacc
      781 accgcagtga cctggtgttc ctggccgacc tgcggcctga ggagattcgc taccgcctgc
      841 agcactactt taagttcctg tttgtgcggg agcccttgga acgcctcctc tctgcctacc
      901 gcaacaagtt tggcgagatc cgagagtacc agcaacgcta tggggctgag atagtgaggc
      961 ggtacagggc tggagcgggg cccagccctg caggcgacga tgtcacattc cccgagttcc
     1021 tgagatacct ggtggatgag gaccctgagc gcatgaatga gcattggatg cccgtgtacc
     1081 acctgtgcca gccttgtgcc gtgcactatg actttgtggg ctcctatgag aggctggagg
     1141 ctgatgcaaa tcaggtgctg gagtgggtac gggcaccacc tcacgtccga tttccagctc
     1201 gccaggcctg gtaccggcca gccagccccg aaagcctgca ttaccacttg tgcagtgccc
     1261 cccgggccct gctgcaggat gtgctgccta agtatatcct ggacttctcc ctctttgcct
     1321 acccactgcc taatgtcacc aaggaggcgt gtcagcagtg accatgggtg tggggccagc
     1381 agctggtggg gactggtttc aacgccagct ttctgtgctt ctgcctgtca ttcggagaaa
     1441 ctctggctct ggggcttggg gcttctcagg atcctggatg gcagagactg ccctcagaag
     1501 ttccttgtcc agggtgggca cccacagtga ctcagaggac agggctaggc aggagacctg
     1561 ctgctcctca ttggggggat ctcttggggg gcagacacca gtttgccaat gaagcaacac
     1621 atctgatcta aagactggct ccagaccccg ggctgccagg attatgcagt ccacttggtc
     1681 taccttaatt taacctgtgg ccaaactcag agatggtacc agccaggggc aagcatgacc
     1741 agagccaggg accctgtggc tctgatcccc catttatcca ccccatgtgc ctcaggacta
     1801 gagtgagcaa tcatacctta taaatgactt ttgtgccttt ctgctccagt ctcaaaattt
     1861 cctacacctg ccagttcttt acatttttcc aaggaaagga aaacggaagc agggttcttg
     1921 cctggtagct ccaggaccca gctctgcagg cacccaaaga ccctctgtgc ccagcctctt
     1981 ccttgagttc tcggaacctc ctccctaatt ctcccttcct tccccacaag gcctttgagg
     2041 ttgtgactgt ggctggtata tctggctgcc atttttctga tgcatttatt taaaatttgt
     2101 actttttgat agaacccttg taagggcttt gttttcctaa tagctgactt tttaataaag
     2161 cagttttata tataa
//
