LOCUS       NM_001244705            2614 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens cysteine sulfinic acid decarboxylase (CSAD),
            transcript variant 2, mRNA.
ACCESSION   NM_001244705
VERSION     NM_001244705.2
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 2614)
  AUTHORS   Winge,I., Teigen,K., Fossbakk,A., Mahootchi,E., Kleppe,R.,
            Skoldberg,F., Kampe,O. and Haavik,J.
  TITLE     Mammalian CSAD and GADL1 have distinct biochemical properties and
            patterns of brain expression
  JOURNAL   Neurochem Int 90, 173-184 (2015)
   PUBMED   26327310
  REMARK    GeneRIF: taurine biosynthesis in vertebrates involves two
            structurally related PLP-dependent decarboxylases (cysteine
            sulfinic acid decarboxylase and glutamic acid decarboxylase like 1)
REFERENCE   2  (bases 1 to 2614)
  AUTHORS   Liu,P., Torrens-Spence,M.P., Ding,H., Christensen,B.M. and Li,J.
  TITLE     Mechanism of cysteine-dependent inactivation of
            aspartate/glutamate/cysteine sulfinic acid alpha-decarboxylases
  JOURNAL   Amino Acids 44 (2), 391-404 (2013)
   PUBMED   22718265
  REMARK    GeneRIF: The presence of cysteine inhibited ADC, CSAD and GDC
            activity.
REFERENCE   3  (bases 1 to 2614)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 2614)
  AUTHORS   Park,E., Park,S.Y., Wang,C., Xu,J., LaFauci,G. and
            Schuller-Levis,G.
  TITLE     Cloning of murine cysteine sulfinic acid decarboxylase and its mRNA
            expression in murine tissues
  JOURNAL   Biochim Biophys Acta 1574 (3), 403-406 (2002)
   PUBMED   11997111
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073573.27, BC052249.1 and
            BQ028782.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001244705.1.
            
            Summary: This gene encodes a member of the group 2 decarboxylase
            family. A similar protein in rodents plays a role in multiple
            biological processes as the rate-limiting enzyme in taurine
            biosynthesis, catalyzing the decarboxylation of cysteinesulfinate
            to hypotaurine. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Sep 2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region and initiates translation at a
            downstream, in-frame start codon, compared to variant 1. The
            encoded isoform (2) has a shorter N-terminus, compared to isoform
            1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052249.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000444623.6/ ENSP00000415485.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AC073573.27        115507-115522       c
            17-210              BC052249.1         1-194
            211-229             AC073573.27        113705-113723       c
            230-958             BC052249.1         214-942
            959-959             AC073573.27        104696-104696       c
            960-2128            BC052249.1         944-2112
            2129-2614           BQ028782.1         18-503              c
FEATURES             Location/Qualifiers
     source          1..2614
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2614
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /note="cysteine sulfinic acid decarboxylase"
                     /db_xref="GeneID:51380"
                     /db_xref="HGNC:HGNC:18966"
                     /db_xref="MIM:616569"
     exon            1..194
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            195..235
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            236..278
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            279..410
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             285..1766
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /EC_number="4.1.1.11"
                     /EC_number="4.1.1.29"
                     /note="isoform 2 is encoded by transcript variant 2;
                     P-selectin cytoplasmic tail-associated protein; aspartate
                     1-decarboxylase; sulfinoalanine decarboxylase;
                     cysteine-sulfinate decarboxylase; cysteine sulfinic acid
                     decarboxylase-related protein"
                     /codon_start=1
                     /product="cysteine sulfinic acid decarboxylase isoform 2"
                     /protein_id="NP_001231634.1"
                     /db_xref="CCDS:CCDS58235.1"
                     /db_xref="GeneID:51380"
                     /db_xref="HGNC:HGNC:18966"
                     /db_xref="MIM:616569"
                     /translation="MADSEALPSLAGDPVAVEALLRAVFGVVVDEAIQKGTSVSQKVC
                     EWKEPEELKQLLDLELRSQGESQKQILERCRAVIRYSVKTGHPRFFNQLFSGLDPHAL
                     AGRIITESLNTSQYTYEIAPVFVLMEEEVLRKLRALVGWSSGDGIFCPGGSISNMYAV
                     NLARYQRYPDCKQRGLRTLPPLALFTSKECHYSIQKGAAFLGLGTDSVRVVKADERGK
                     MVPEDLERQIGMAEAEGAVPFLVSATSGTTVLGAFDPLEAIADVCQRHGLWLHVDAAW
                     GGSVLLSQTHRHLLDGIQRADSVAWNPHKLLAAGLQCSALLLQDTSNLLKRCHGSQAS
                     YLFQQDKFYDVALDTGDKVVQCGRRVDCLKLWLMWKAQGDQGLERRIDQAFVLARYLV
                     EEMKKREGFELVMEPEFVNVCFWFVPPSLRGKQESPDYHERLSKVAPVLKERMVKEGS
                     MMIGYQPHGTRGNFFRVVVANSALTCADMDFLLNELERLGQDL"
     exon            411..537
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            538..628
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            629..735
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            736..851
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            852..931
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            932..986
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1103
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1168
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1250
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1450
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1502
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..1592
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..2614
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2591..2596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /note="hexamer: AATAAA"
     polyA_site      2614
                     /gene="CSAD"
                     /gene_synonym="CSD; PCAP"
                     /note="major polyA site"
ORIGIN      
        1 cttcccgcgc ggcaccccac ggcttgcgag ctactgaagc gctgccgtct gtacggacga
       61 cgctgcggtc tttggggctt gctcctacct gccaggcgcg gcctcccgct ggctccctgg
      121 ccgcgcggcg cctcctccag gccccagcac accctgccaa ccccaccgcc gcggctgccc
      181 ccaccgggac cgagggtggc tcacacctgt aatcccagca cgttgggaag ccgaggagct
      241 acctgtgcac cctgcctccg gctctcctga gcagagagat cctgatggct gactcagaag
      301 cactcccctc ccttgctggg gacccagtgg ctgtggaagc cttgctccgg gccgtgtttg
      361 gggttgttgt ggatgaggcc attcagaaag gaaccagtgt ctcccagaag gtctgtgagt
      421 ggaaggagcc tgaggagctg aagcagctgc tggatttgga gctgcggagc cagggcgagt
      481 cacagaagca gatcctggag cggtgtcggg ctgtgattcg ctacagtgtc aagactggtc
      541 accctcggtt cttcaaccag ctcttctctg ggttggatcc ccatgctctg gccgggcgca
      601 ttatcactga gagcctcaac accagccagt acacatatga aatcgccccc gtgtttgtgc
      661 tcatggaaga ggaggtgctg aggaaactgc gggccctggt gggctggagc tctggggacg
      721 gaatcttctg ccctggtggc tccatctcca acatgtatgc tgtaaatctg gcccgctatc
      781 agcgctaccc ggattgcaag cagaggggcc tccgcacact gccgcccctg gccctattca
      841 catcgaagga gtgtcactac tccatccaga agggagctgc gtttctggga cttggcaccg
      901 acagtgtccg agtggtcaag gctgatgaga gagggaaaat ggtccccgag gatctggaga
      961 ggcagattgg tatggccgag gctgagggtg ctgtgccgtt cctggtcagt gccacctctg
     1021 gcaccactgt gctaggggcc tttgaccccc tggaggcaat tgctgatgtg tgccagcgtc
     1081 atgggctatg gctgcatgtg gatgctgcct ggggtgggag cgtcctgctg tcacagacac
     1141 acaggcatct cctggatggg atccagaggg ctgactctgt ggcctggaat ccccacaagc
     1201 tcctcgcagc aggcctgcaa tgctctgcac ttcttctcca ggatacctcg aacctgctca
     1261 agcgctgcca tgggtcccag gccagctacc ttttccagca ggacaagttc tacgatgtgg
     1321 ctctggacac gggagacaag gtggtgcagt gtggccgccg tgtggactgt ctgaagctgt
     1381 ggctcatgtg gaaggcacag ggcgatcaag ggctggagcg gcgcatcgac caggcctttg
     1441 tccttgcccg gtacctggtg gaggaaatga agaagcggga agggtttgag ctagtcatgg
     1501 agcctgagtt tgtcaatgtg tgtttctggt tcgtaccccc cagcctgcga gggaagcagg
     1561 agagtccaga ttaccacgaa aggctgtcaa aggtggcccc cgtgctcaag gagcgcatgg
     1621 tgaaggaggg ctccatgatg attggctacc agccccacgg gacccggggc aacttcttcc
     1681 gtgtggttgt ggccaactct gcactgacct gtgctgatat ggacttcctc ctcaacgagc
     1741 tggagcggct aggccaggac ctgtgagcct tctctgtctt gctgccggcc ttgataccac
     1801 ccctcacccg cagagtcact gcattccctc ccagcctttg aggccgggtg cagtggctca
     1861 cgcctgtaat cccagcactt tgggaggccg aggcgggtgg atcacttgag gtcaggagtt
     1921 cgagaccagc ctggccaata aggtgaaacc ctgtctctac taaaaataca aaaattagcc
     1981 gagcatggtg gcctgtgcct gtaaacccag ctactcagga ggttggggca gaattgcttg
     2041 aacccagggg gcagaggttg cagtgagccg agattgcacc cctgcactcc aggctgggca
     2101 acagtacgag actctgttcc aaaaaaaata aaaaagaaca gcctttttag gccacagtga
     2161 cctgcgcaat gtttatatgc tttgacctac taactttctc ctaactaaat atttgatttt
     2221 aggagagtgt ttaaataaat tacagtatgt ctatatgatg aaatgttatt ttgccattaa
     2281 aattttgttt acaaagataa tttttattga cataaaaata actttaatgt aatttatgtt
     2341 gaaaaagctg aatacaagtc tttatataga gtaatatttg agctgtgttc aaaaatacat
     2401 aggaaaagac tgataaaatg aaatatggca aaatgttaat agttttccct ggaataggat
     2461 aataggcaat tttaaaacag actcctttaa aaaaacaaac aaacaaaaaa aacatagact
     2521 tctttatatc ttttgagctc cctccctttt attatgtaat gaatatgtgt tgcttttgta
     2581 ataggaaaat aataaagtta aaatttcaac tgca
//
