LOCUS       NM_001015880            3699 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2
            (PAPSS2), transcript variant 2, mRNA.
ACCESSION   NM_001015880
VERSION     NM_001015880.2
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 3699)
  AUTHORS   Helvacioglu,D. and Guran,T.
  TITLE     Bone Phenotype is Always Present But Androgen Excess is Less
            Frequently Seen in PAPSS2 Deficiency
  JOURNAL   J Clin Res Pediatr Endocrinol 16 (1), 4-10 (2024)
   PUBMED   38084048
  REMARK    GeneRIF: Bone Phenotype is Always Present But Androgen Excess is
            Less Frequently Seen in PAPSS2 Deficiency.
            Review article
REFERENCE   2  (bases 1 to 3699)
  AUTHORS   Zhang,L., Song,W., Li,T., Mu,Y., Zhang,P., Hu,J., Lin,H., Zhang,J.,
            Gao,H. and Zhang,L.
  TITLE     Redox switching mechanism of the adenosine 5'-phosphosulfate kinase
            domain (APSK2) of human PAPS synthase 2
  JOURNAL   Structure 31 (7), 826-835 (2023)
   PUBMED   37207644
  REMARK    GeneRIF: Redox switching mechanism of the adenosine
            5'-phosphosulfate kinase domain (APSK2) of human PAPS synthase 2.
REFERENCE   3  (bases 1 to 3699)
  AUTHORS   Cao,Y., Guan,X., Li,S., Wu,N., Chen,X., Yang,T., Yang,B. and
            Zhao,X.
  TITLE     Identification of variants in ACAN and PAPSS2 leading to
            spondyloepi(meta)physeal dysplasias in four Chinese families
  JOURNAL   Mol Genet Genomic Med 10 (5), e1916 (2022)
   PUBMED   35261200
  REMARK    GeneRIF: Identification of variants in ACAN and PAPSS2 leading to
            spondyloepi(meta)physeal dysplasias in four Chinese families.
REFERENCE   4  (bases 1 to 3699)
  AUTHORS   Zhang,P., Zhang,L., Hou,Z., Lin,H., Gao,H. and Zhang,L.
  TITLE     Structural basis for the substrate recognition mechanism of
            ATP-sulfurylase domain of human PAPS synthase 2
  JOURNAL   Biochem Biophys Res Commun 586, 1-7 (2022)
   PUBMED   34818583
  REMARK    GeneRIF: Structural basis for the substrate recognition mechanism
            of ATP-sulfurylase domain of human PAPS synthase 2.
REFERENCE   5  (bases 1 to 3699)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 3699)
  AUTHORS   Besset,S., Vincourt,J.B., Amalric,F. and Girard,J.P.
  TITLE     Nuclear localization of PAPS synthetase 1: a sulfate activation
            pathway in the nucleus of eukaryotic cells
  JOURNAL   FASEB J 14 (2), 345-354 (2000)
   PUBMED   10657990
REFERENCE   7  (bases 1 to 3699)
  AUTHORS   Kurima,K., Singh,B. and Schwartz,N.B.
  TITLE     Genomic organization of the mouse and human genes encoding the ATP
            sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2
  JOURNAL   J Biol Chem 274 (47), 33306-33312 (1999)
   PUBMED   10559207
REFERENCE   8  (bases 1 to 3699)
  AUTHORS   Faiyaz ul Haque,M., King,L.M., Krakow,D., Cantor,R.M.,
            Rusiniak,M.E., Swank,R.T., Superti-Furga,A., Haque,S., Abbas,H.,
            Ahmad,W., Ahmad,M. and Cohn,D.H.
  TITLE     Mutations in orthologous genes in human spondyloepimetaphyseal
            dysplasia and the brachymorphic mouse
  JOURNAL   Nat Genet 20 (2), 157-162 (1998)
   PUBMED   9771708
REFERENCE   9  (bases 1 to 3699)
  AUTHORS   Ahmad,M., Faiyaz Ul Haque,M., Ahmad,W., Abbas,H., Haque,S.,
            Krakow,D., Rimoin,D.L., Lachman,R.S. and Cohn,D.H.
  TITLE     Distinct, autosomal recessive form of spondyloepimetaphyseal
            dysplasia segregating in an inbred Pakistani kindred
  JOURNAL   Am J Med Genet 78 (5), 468-473 (1998)
   PUBMED   9714015
REFERENCE   10 (bases 1 to 3699)
  AUTHORS   Kurima,K., Warman,M.L., Krishnan,S., Domowicz,M., Krueger,R.C. Jr.,
            Deyrup,A. and Schwartz,N.B.
  TITLE     A member of a family of sulfate-activating enzymes causes murine
            brachymorphism
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8681-8685 (1998)
   PUBMED   9671738
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1998 Sep 29;95(20):12071]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ221395.1, CB960618.1,
            AF150754.2, BC009894.2, BQ888954.1 and BQ772647.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001015880.1.
            
            Summary: Sulfation is a common modification of endogenous (lipids,
            proteins, and carbohydrates) and exogenous (xenobiotics and drugs)
            compounds. In mammals, the sulfate source is 3'-phosphoadenosine
            5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate.
            Two different tissue isoforms encoded by different genes synthesize
            PAPS. This gene encodes one of the two PAPS synthetases. Defects in
            this gene cause the Pakistani type of spondyloepimetaphyseal
            dysplasia. Two alternatively spliced transcript variants that
            encode different isoforms have been described for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) includes an alternate in-frame
            segment, compared to variant 1, resulting in a longer protein
            (isoform 2), compared to isoform 1. Isoform 2 has also been named
            PAPS synthase 2b.
            
            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 :: AF150754.2, AF173365.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000456849.2/ ENSP00000406157.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                BQ221395.1         165-194
            31-84               CB960618.1         69-122
            85-1265             AF150754.2         61-1241
            1266-2410           BC009894.2         1258-2402
            2411-2996           BQ888954.1         169-754
            2997-3699           BQ772647.1         17-719              c
FEATURES             Location/Qualifiers
     source          1..3699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2-q23.31"
     gene            1..3699
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /note="3'-phosphoadenosine 5'-phosphosulfate synthase 2"
                     /db_xref="GeneID:9060"
                     /db_xref="HGNC:HGNC:8604"
                     /db_xref="MIM:603005"
     exon            1..131
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1964
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /EC_number="2.7.1.25"
                     /EC_number="2.7.7.4"
                     /note="isoform b is encoded by transcript variant 2;
                     3-prime-phosphoadenosine 5-prime-phosphosulfate synthase
                     2; bifunctional 3'-phosphoadenosine 5'-phosphosulfate
                     synthase 2; sulfate adenylyltransferase; adenylyl-sulfate
                     kinase; ATP sulfurylase/APS kinase 2; PAPS synthase 2;
                     PAPS synthetase 2; bifunctional 3'-phosphoadenosine
                     5'-phosphosulfate synthethase 2; ATP sulfurylase/adenosine
                     5'-phosphosulfate kinase; SK 2; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="bifunctional 3'-phosphoadenosine
                     5'-phosphosulfate synthase 2 isoform b"
                     /protein_id="NP_001015880.1"
                     /db_xref="CCDS:CCDS44453.1"
                     /db_xref="GeneID:9060"
                     /db_xref="HGNC:HGNC:8604"
                     /db_xref="MIM:603005"
                     /translation="MSGIKKQKTENQQKSTNVVYQAHHVSRNKRGQVVGTRGGFRGCT
                     VWLTGLSGAGKTTISFALEEYLVSHAIPCYSLDGDNVRHGLNRNLGFSPGDREENIRR
                     IAEVAKLFADAGLVCITSFISPFAKDRENARKIHESAGLPFFEIFVDAPLNICESRDV
                     KGLYKRARAGEIKGFTGIDSDYEKPETPERVLKTNLSTVSDCVHQVVELLQEQNIVPY
                     TIIKDIHELFVPENKLDHVRAEAETLPSLSITKLDLQWVQVLSEGWATPLKGFMREKE
                     YLQVMHFDTLLDGMALPDGVINMSIPIVLPVSAEDKTRLEGCSKFVLAHGGRRVAILR
                     DAEFYEHRKEERCSRVWGTTCTKHPHIKMVMESGDWLVGGDLQVLEKIRWNDGLDQYR
                     LTPLELKQKCKEMNADAVFAFQLRNPVHNGHALLMQDTRRRLLERGYKHPVLLLHPLG
                     GWTKDDDVPLDWRMKQHAAVLEEGVLDPKSTIVAIFPSPMLYAGPTEVQWHCRSRMIA
                     GANFYIVGRDPAGMPHPETKKDLYEPTHGGKVLSMAPGLTSVEIIPFRVAAYNKAKKA
                     MDFYDPARHNEFDFISGTRMRKLAREGENPPDGFMAPKAWKVLTDYYRSLEKN"
     exon            132..249
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            250..485
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            486..624
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            625..743
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            744..857
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            858..969
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            970..984
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1190
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1326
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1595
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1825
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1826..3699
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3680..3685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /note="hexamer: AATAAA"
     polyA_site      3699
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /note="major polyA site"
ORIGIN      
        1 agccgctgct gctgctgctg ctgctgctgc cgccgccgcc gccgccgtcc ctgcgtcctt
       61 cggtctctgc tcccgggacc cgggctccgc cgcagccagc cagcatgtcg gggatcaaga
      121 agcaaaagac ggagaaccag cagaaatcca ccaatgtagt ctatcaggcc caccatgtga
      181 gcaggaataa gagagggcaa gtggttggaa caaggggtgg gttccgagga tgtaccgtgt
      241 ggctaacagg tctctctggt gctggaaaaa caacgataag ttttgccctg gaggagtacc
      301 ttgtctccca tgccatccct tgttactccc tggatgggga caatgtccgt catggcctta
      361 acagaaatct cggattctct cctggggaca gagaggaaaa tatccgccgg attgctgagg
      421 tggctaagct gtttgctgat gctggtctgg tctgcattac cagctttatt tctccattcg
      481 caaaggatcg tgagaatgcc cgcaaaatac atgaatcagc agggctgcca ttctttgaaa
      541 tatttgtaga tgcacctcta aatatttgtg aaagcagaga cgtaaaaggc ctctataaaa
      601 gggccagagc tggggagatt aaaggattta caggtattga ttctgattat gagaaacctg
      661 aaactcctga gcgtgtgctt aaaaccaatt tgtccacagt gagtgactgt gtccaccagg
      721 tagtggaact tctgcaagag cagaacattg taccctatac tataatcaaa gatatccacg
      781 aactctttgt gccggaaaac aaacttgacc acgtccgagc tgaggctgaa actctccctt
      841 cattatcaat tactaagctg gatctccagt gggtccaggt tttgagcgaa ggctgggcca
      901 ctcccctcaa aggtttcatg cgggagaagg agtacttaca ggttatgcac tttgacaccc
      961 tgctagatgg catggccctt cctgatggcg tgatcaacat gagcatcccc attgtactgc
     1021 ccgtctctgc agaggataag acacggctgg aagggtgcag caagtttgtc ctggcacatg
     1081 gtggacggag ggtagctatc ttacgagacg ctgaattcta tgaacacaga aaagaggaac
     1141 gctgttcccg tgtttggggg acaacatgta caaaacaccc ccatatcaaa atggtgatgg
     1201 aaagtgggga ctggctggtt ggtggagacc ttcaggtgct ggagaaaata agatggaatg
     1261 atgggctgga ccaataccgt ctgacacctc tggagctcaa acagaaatgt aaagaaatga
     1321 atgctgatgc ggtgtttgca ttccagttgc gcaatcctgt ccacaatggc catgccctgt
     1381 tgatgcagga cactcgccgc aggctcctag agaggggcta caagcacccg gtcctcctac
     1441 tacaccctct gggcggctgg accaaggatg acgatgtgcc tctagactgg cggatgaagc
     1501 agcacgcggc tgtgctcgag gaaggggtcc tggatcccaa gtcaaccatt gttgccatct
     1561 ttccgtctcc catgttatat gctggcccca cagaggtcca gtggcactgc aggtcccgga
     1621 tgattgcggg tgccaatttc tacattgtgg ggagggaccc tgcaggaatg ccccatcctg
     1681 aaaccaagaa ggatctgtat gaacccactc atgggggcaa ggtcttgagc atggcccctg
     1741 gcctcacctc tgtggaaatc attccattcc gagtggctgc ctacaacaaa gccaaaaaag
     1801 ccatggactt ctatgatcca gcaaggcaca atgagtttga cttcatctca ggaactcgaa
     1861 tgaggaagct cgcccgggaa ggagagaatc ccccagatgg cttcatggcc cccaaagcat
     1921 ggaaggtcct gacagattat tacaggtccc tggagaagaa ctaagccttt ggctccagag
     1981 tttctttctg aagtgctctt tgattacctt ttctattttt atgattagat gctttgtatt
     2041 aaattgcttc tcaatgatgc attttaatct tttataatga agtaaaagtt gtgtctataa
     2101 ttaaaaaaaa atatatatat atacacacac acatatacat acaaagtcaa actgaagacc
     2161 aaatcttagc aggtaaaagc aatattctta tacatttcat aataaaatta gctctatgta
     2221 ttttctactg cacctgagca ggcaggtccc agatttctta aggctttgtt tgaccatgtg
     2281 tctagttact tgctgaaaag tgaatatatt ttccagcatg tcttgacaac ctgtactctt
     2341 ccaatgtcat ttatcagttg taaaatatat cagattgtgt cctcttctgt acaattgaca
     2401 aaaaaaaaaa tttttttttc tcactctaaa agaggtgtgg ctcacatcaa gattcttcct
     2461 gatattttac ctcatgctgt acaaagcctt aatgttgtaa tcatatctta cgtgttgaag
     2521 acctgactgg agaaacaaaa tgtgcaataa cgtgaatttt atcttagaga tctgtgcagc
     2581 ctatttctgt cacaaaagtt atattgtcta ataagagaag tcttaatggc ctctgtgaat
     2641 aatgtaactc cagttacacg gtgactttta atagcataca gtgatttgat gaaaggacgt
     2701 caaacaatgt ggcgatgtcg tggaaagtta tctttcccgc tctttgctgt ggtcattgtg
     2761 tcttgcagaa aggatggccc tgatgcagca gcagcgccag ctgtaataaa aaataattca
     2821 cactatcaga ctagcaaggc actagaactg gaaaagacca cagaaaacaa agaatccaac
     2881 cctttcatct tacaggtgaa caaactgtga tgatgcacat gtatgtgttt tgtaagctgt
     2941 gagcaccgta acaaaatgta aatttgccat tattaggaag tgctggtggc agtgaagaag
     3001 cacccaggcc acttgactcc cagtctggtg ccctgtctac accagacaac acaggagctg
     3061 ggtcagattc ccctcagctg cttaacaaag ttcctcgaac agaaagtgct tacaaagctg
     3121 ccttctcgga tactgaaagg tcgagttttc tgaactgcac tgattttatt gcagttgaaa
     3181 aaaaaaaaaa gctattccaa agatttcaag ctgttctgag acatcttctg atggctttac
     3241 ttcctgagag gcaatgtttt tactttatgc ataattcatt gttgccaagg aataaagtga
     3301 agaaacagca ccttttaata tataggtctc tctggaagag acctaaatta gaaagagaaa
     3361 actgtgacaa ttttcatatt ctcattctta aaaaacacta atcttaacta acaaaagttc
     3421 ttttgagaat aagttacaca caatggccac agcagtttgt ctttaatagt atagtgccta
     3481 tactcatgta atcggttact cactactgcc tttaaaaaaa aaaaccagca tatttattga
     3541 aaacatgaga caggattata gtgccttaac cgatatattt tgtgacttaa aaaatacatt
     3601 taaaactgct cttctgctct agtaccatgc ttagtgcaaa tgattatttc tatgtacaac
     3661 tgatgcttgt tcttatttta ataaatttat cagagtgaa
//
