LOCUS       NM_001127895            2225 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens carbohydrate sulfotransferase 8 (CHST8), transcript
            variant 2, mRNA.
ACCESSION   NM_001127895
VERSION     NM_001127895.2
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 2225)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2225)
  AUTHORS   Fiete,D., Mi,Y., Beranek,M., Baenziger,N.L. and Baenziger,J.U.
  TITLE     The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively
            responsible for peeling skin syndrome has normal properties
            consistent with a simple sequence polymorphisim
  JOURNAL   Glycobiology 27 (5), 450-456 (2017)
   PUBMED   28204496
  REMARK    GeneRIF: These findings, an allele frequency of 0.004357, and a
            10-fold difference in prevalence of CHST8 (c.299 C > T, R77W)
            across different ethnic groups, suggest that this sequence
            represents a 'passenger' distributed polymorphism, a simple
            sequence variant form of the enzyme having normal activity, rather
            than a 'driver' disease-causing mutation that accounts for peeling
            skin syndrome
REFERENCE   3  (bases 1 to 2225)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
REFERENCE   4  (bases 1 to 2225)
  AUTHORS   Cabral,R.M., Kurban,M., Wajid,M., Shimomura,Y., Petukhova,L. and
            Christiano,A.M.
  TITLE     Whole-exome sequencing in a single proband reveals a mutation in
            the CHST8 gene in autosomal recessive peeling skin syndrome
  JOURNAL   Genomics 99 (4), 202-208 (2012)
   PUBMED   22289416
  REMARK    GeneRIF: A missense mutation in the CHST8 gene, encoding
            GalNAc4-ST1, is the underlying cause of type A non-inflammatory
            peeling skin syndrome in this family.
REFERENCE   5  (bases 1 to 2225)
  AUTHORS   Thorleifsson,G., Walters,G.B., Gudbjartsson,D.F.,
            Steinthorsdottir,V., Sulem,P., Helgadottir,A., Styrkarsdottir,U.,
            Gretarsdottir,S., Thorlacius,S., Jonsdottir,I., Jonsdottir,T.,
            Olafsdottir,E.J., Olafsdottir,G.H., Jonsson,T., Jonsson,F.,
            Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Lauritzen,T., Aben,K.K., Verbeek,A.L., Roeleveld,N., Kampman,E.,
            Yanek,L.R., Becker,L.C., Tryggvadottir,L., Rafnar,T., Becker,D.M.,
            Gulcher,J., Kiemeney,L.A., Pedersen,O., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Genome-wide association yields new sequence variants at seven loci
            that associate with measures of obesity
  JOURNAL   Nat Genet 41 (1), 18-24 (2009)
   PUBMED   19079260
REFERENCE   6  (bases 1 to 2225)
  AUTHORS   Boregowda,R.K., Mi,Y., Bu,H. and Baenziger,J.U.
  TITLE     Differential expression and enzymatic properties of
            GalNAc-4-sulfotransferase-1 and GalNAc-4-sulfotransferase-2
  JOURNAL   Glycobiology 15 (12), 1349-1358 (2005)
   PUBMED   16079414
  REMARK    GeneRIF: analysis of enzymatic properties and expression of
            GalNAc-4-sulfotransferase-1 and GalNAc-4-sulfotransferase-2
REFERENCE   7  (bases 1 to 2225)
  AUTHORS   Barret,A., Forestier,L., Deslys,J.P., Julien,R. and Gallet,P.F.
  TITLE     Glycosylation-related gene expression in prion diseases: PrPSc
            accumulation in scrapie infected GT1 cells depends on
            beta-1,4-linked GalNAc-4-SO4 hyposulfation
  JOURNAL   J Biol Chem 280 (11), 10516-10523 (2005)
   PUBMED   15632154
REFERENCE   8  (bases 1 to 2225)
  AUTHORS   Hiraoka,N., Misra,A., Belot,F., Hindsgaul,O. and Fukuda,M.
  TITLE     Molecular cloning and expression of two distinct human
            N-acetylgalactosamine 4-O-sulfotransferases that transfer sulfate
            to GalNAc beta 1-->4GlcNAc beta 1-->R in both N- and O-glycans
  JOURNAL   Glycobiology 11 (6), 495-504 (2001)
   PUBMED   11445554
REFERENCE   9  (bases 1 to 2225)
  AUTHORS   Okuda,T., Mita,S., Yamauchi,S., Fukuta,M., Nakano,H., Sawada,T. and
            Habuchi,O.
  TITLE     Molecular cloning and characterization of GalNAc 4-sulfotransferase
            expressed in human pituitary gland
  JOURNAL   J Biol Chem 275 (51), 40605-40613 (2000)
   PUBMED   11001942
REFERENCE   10 (bases 1 to 2225)
  AUTHORS   Xia,G., Evers,M.R., Kang,H.G., Schachner,M. and Baenziger,J.U.
  TITLE     Molecular cloning and expression of the pituitary glycoprotein
            hormone N-acetylgalactosamine-4-O-sulfotransferase
  JOURNAL   J Biol Chem 275 (49), 38402-38409 (2000)
   PUBMED   10988300
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010510.6, BX354555.2,
            DB500322.1, BC011380.1 and BC014250.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001127895.1.
            
            Summary: The protein encoded by this gene belongs to the
            sulfotransferase 2 family. It is predominantly expressed in the
            pituitary gland, and is localized to the golgi membrane. This
            protein catalyzes the transfer of sulfate to position 4 of
            non-reducing N-acetylgalactosamine (GalNAc) residues in both
            N-glycans and O-glycans. It is responsible for sulfation of GalNAc
            on luteinizing hormone (LH), which is required for production of
            the sex hormones. Mice lacking this enzyme, exhibit increased
            levels of circulating LH, and precocious sexual maturation of both
            male and female mice. Alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (2) contains an additional 5'
            non-coding exon compared to variant 1. Variants 1-3 encode the same
            protein.
            
            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 :: SRR3476690.963981.1, BX442496.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMN02400288
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650847.1/ ENSP00000499084.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC010510.6         12782-12783
            3-5                 BX354555.2         1-3
            6-344               DB500322.1         4-342
            345-765             BX354555.2         342-762
            766-1191            BC011380.1         627-1052
            1192-2225           BC014250.2         1097-2130
FEATURES             Location/Qualifiers
     source          1..2225
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..2225
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /note="carbohydrate sulfotransferase 8"
                     /db_xref="GeneID:64377"
                     /db_xref="HGNC:HGNC:15993"
                     /db_xref="MIM:610190"
     exon            1..344
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /inference="alignment:Splign:2.1.0"
     exon            345..421
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /inference="alignment:Splign:2.1.0"
     exon            422..637
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             508..1782
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /EC_number="2.8.2.-"
                     /note="GALNAC-4-ST1; carbohydrate (N-acetylgalactosamine
                     4-0) sulfotransferase 8; GalNAc-4-O-sulfotransferase 1;
                     galNAc4ST-1; N-acetylgalactosamine-4-O-sulfotransferase 1"
                     /codon_start=1
                     /product="carbohydrate sulfotransferase 8"
                     /protein_id="NP_001121367.1"
                     /db_xref="CCDS:CCDS12433.1"
                     /db_xref="GeneID:64377"
                     /db_xref="HGNC:HGNC:15993"
                     /db_xref="MIM:610190"
                     /translation="MTLRPGTMRLACMFSSILLFGAAGLLLFISLQDPTELAPQQVPG
                     IKFNIRPRQPHHDLPPGGSQDGDLKEPTERVTRDLSSGAPRGRNLPAPDQPQPPLQRG
                     TRLRLRQRRRRLLIKKMPAAATIPANSSDAPFIRPGPGTLDGRWVSLHRSQQERKRVM
                     QEACAKYRASSSRRAVTPRHVSRIFVEDRHRVLYCEVPKAGCSNWKRVLMVLAGLASS
                     TADIQHNTVHYGSALKRLDTFDRQGILHRLSTYTKMLFVREPFERLVSAFRDKFEHPN
                     SYYHPVFGKAILARYRANASREALRTGSGVRFPEFVQYLLDVHRPVGMDIHWDHVSRL
                     CSPCLIDYDFVGKFESMEDDANFFLSLIRAPRNLTFPRFKDRHSQEARTTARIAHQYF
                     AQLSALQRQRTYDFYYMDYLMFNYSKPFADLY"
     exon            638..675
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /inference="alignment:Splign:2.1.0"
     exon            676..2225
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2204..2209
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /note="hexamer: AATAAA"
     polyA_site      2225
                     /gene="CHST8"
                     /gene_synonym="GalNAc4ST; GALNAC4ST1; PSS3"
                     /note="major polyA site"
ORIGIN      
        1 acttcgctgg gagccttccc ggcgcgcaag ccggatccgg cagtgctgcg gggaggagag
       61 aggacgaggc ggcggcggca gcaggaggtg ggggaccgat cgcgccgggg gccgaagagg
      121 aacgccgccc cgcgccctct cgctccccgc acgctccggc tgccggcccc acgctgctcg
      181 cccacagatc gcactgggtt ccgcttggag cgggcggagg caccgggccc gagctgggtc
      241 ggaggtcctc tccgccgcct gcgcgcccca agcagaggat ccgccgcgga gaaccgctcc
      301 cggactggag gcgcccgcgg cctcgggtgc gtccgctgcg ccaggtttaa aggtcaacaa
      361 gaatatctta ccttaatttg acaagtacgc aagaaataat gcaagactcg tttatgttca
      421 gatctcggcc tgatggacgc ctggtgtgga cgatgaggga agaacgtgcc ccccacaccc
      481 aagaggtgac ccctgagcca gccccggatg accctgcgac ctggaacaat gcggctggcc
      541 tgcatgttct cttccatcct gctgttcgga gctgcaggcc tcctcctctt catcagcctg
      601 caggacccta cggagctcgc cccccagcag gtgccaggaa taaagttcaa catcaggcca
      661 aggcagcccc accacgacct cccaccaggc ggctcccagg atggtgactt gaaggaaccc
      721 acagagaggg tcactcggga cttatccagt ggggccccga ggggccgcaa cctgccagcg
      781 cctgaccagc ctcaaccccc gctgcagagg ggaacccgtc tgcggctccg ccagcgccgt
      841 cgccgtctgc tcatcaagaa aatgccagct gcggcgacca tcccggccaa cagctcggac
      901 gcgcccttca tccggccggg acccgggacg ctggatggcc gctgggtcag cctgcaccgg
      961 agccagcagg agcgcaagcg ggtgatgcag gaggcctgcg ccaagtaccg ggcgagcagc
     1021 agccgccggg ccgtcacgcc ccgccacgtg tcccgtatct tcgtggagga ccgccaccgc
     1081 gtgctctact gcgaggtgcc caaggccggc tgctccaatt ggaagcgggt gctcatggtg
     1141 ctggccggcc tggcctcgtc cactgccgac atccagcaca acaccgtcca ctatggcagc
     1201 gctctcaagc gcctggacac cttcgaccgc cagggtatct tgcaccgtct cagcacctac
     1261 accaagatgc tctttgtccg cgagcccttc gagaggctgg tgtccgcctt ccgcgacaag
     1321 tttgagcacc ccaacagcta ctatcacccg gtcttcggca aggccatcct ggcccggtac
     1381 cgcgccaatg cctctcggga ggccctgcgg accggctctg gggtgcgttt tcccgagttc
     1441 gtccagtacc tgctggacgt gcaccggccc gtggggatgg acattcactg ggaccatgtc
     1501 agccggctct gcagcccctg cctcatcgac tacgatttcg taggcaagtt cgagagcatg
     1561 gaggacgatg ccaacttctt cctgagcctc atccgcgcgc cgcggaacct gaccttcccc
     1621 cggttcaagg accggcactc gcaggaggcg cggaccacag cgaggatcgc ccaccagtac
     1681 ttcgcccaac tctcggccct gcaaaggcag cgcacctacg acttctacta catggattac
     1741 ctgatgttca actattccaa gccctttgca gatctgtact gaggggcgcc gcagctggcc
     1801 ggggccgccc tgccccggtc actcacctgt gctcccgggc atcctcctgt ccctggctcc
     1861 tcatcctggg agcaacaggg ctctgaggac gtgaggagcc atcgctgtgg gaggcagcag
     1921 gccccgggtg gggggcagag gcgcccagcc ttggatgggg accccagccc ctggcctgta
     1981 cctgtttcct cattccttgg ctgagggaga ggctgagaac tgggcagaca cccctggagc
     2041 tcagccgaca gttttgatga gcagggaagt ctgaggccca gaggacgggg ggcccagcgg
     2101 taagggatgt cccgcactcc cttagccatt gccttggacc aaaccacgtg gtttgcagct
     2161 tttctacgag ccagggggga ggttcccttg gattaaggtt ccaaataaag cacatggttt
     2221 ccaga
//
