LOCUS       NM_001321072            2656 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cystathionine beta-synthase (CBS), transcript variant
            5, mRNA.
ACCESSION   NM_001321072 XM_011529784
VERSION     NM_001321072.1
KEYWORDS    RefSeq.
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 2656)
  AUTHORS   Hu,X.J., Sun,Y., Liu,G.J., Zhang,J., Zhang,L.X. and Peng,Y.H.
  TITLE     Cystathionine-beta-synthase expression correlates with tumour
            progression and adverse prognosis in patients with colon cancer
  JOURNAL   J Int Med Res 52 (9), 3000605241263726 (2024)
   PUBMED   39324183
  REMARK    GeneRIF: Cystathionine-beta-synthase expression correlates with
            tumour progression and adverse prognosis in patients with colon
            cancer.
REFERENCE   2  (bases 1 to 2656)
  AUTHORS   Mijatovic,E., Ascencao,K., Szabo,C. and Majtan,T.
  TITLE     Cellular turnover and degradation of the most common missense
            cystathionine beta-synthase variants causing homocystinuria
  JOURNAL   Protein Sci 33 (8), e5123 (2024)
   PUBMED   39041895
  REMARK    GeneRIF: Cellular turnover and degradation of the most common
            missense cystathionine beta-synthase variants causing
            homocystinuria.
REFERENCE   3  (bases 1 to 2656)
  AUTHORS   Al-Sadeq,D.W., Conter,C., Thanassoulas,A., Al-Dewik,N.,
            Safieh-Garabedian,B., Martinez-Cruz,L.A., Nasrallah,G.K.,
            Astegno,A. and Nomikos,M.
  TITLE     Biochemical and structural impact of two novel missense mutations
            in cystathionine beta-synthase gene associated with homocystinuria
  JOURNAL   Biochem J 481 (8), 569-585 (2024)
   PUBMED   38563463
  REMARK    GeneRIF: Biochemical and structural impact of two novel missense
            mutations in cystathionine beta-synthase gene associated with
            homocystinuria.
REFERENCE   4  (bases 1 to 2656)
  AUTHORS   McCorvie,T.J., Adamoski,D., Machado,R.A.C., Tang,J., Bailey,H.J.,
            Ferreira,D.S.M., Strain-Damerell,C., Basle,A., Ambrosio,A.L.B.,
            Dias,S.M.G. and Yue,W.W.
  TITLE     Architecture and regulation of filamentous human cystathionine
            beta-synthase
  JOURNAL   Nat Commun 15 (1), 2931 (2024)
   PUBMED   38575566
  REMARK    GeneRIF: Architecture and regulation of filamentous human
            cystathionine beta-synthase.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2656)
  AUTHORS   Sacharow,S.J., Picker,J.D. and Levy,H.L.
  TITLE     Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301697
REFERENCE   6  (bases 1 to 2656)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 2656)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   8  (bases 1 to 2656)
  AUTHORS   Kraus,J., Packman,S., Fowler,B. and Rosenberg,L.E.
  TITLE     Purification and properties of cystathionine beta-synthase from
            human liver. Evidence for identical subunits
  JOURNAL   J Biol Chem 253 (18), 6523-6528 (1978)
   PUBMED   681363
REFERENCE   9  (bases 1 to 2656)
  AUTHORS   Griffiths,R. and Tudball,N.
  TITLE     The molecular defect in a case of (cystathionine
            beta-synthase)-deficient homocystinuria
  JOURNAL   Eur J Biochem 74 (2), 269-273 (1977)
   PUBMED   404147
REFERENCE   10 (bases 1 to 2656)
  AUTHORS   Longhi,R.C., Fleisher,L.D., Tallan,H.H. and Gaull,G.E.
  TITLE     Cystathionine beta-synthase deficiency: a qualitative abnormality
            of the deficient enzyme modified by vitamin B6 therapy
  JOURNAL   Pediatr Res 11 (2), 100-103 (1977)
   PUBMED   840498
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001630.1.
            
            On Mar 18, 2016 this sequence version replaced XM_011529784.1.
            
            Summary: The protein encoded by this gene acts as a homotetramer to
            catalyze the conversion of homocysteine to cystathionine, the first
            step in the transsulfuration pathway. The encoded protein is
            allosterically activated by adenosyl-methionine and uses pyridoxal
            phosphate as a cofactor. Defects in this gene can cause
            cystathionine beta-synthase deficiency (CBSD), which can lead to
            homocystinuria. This gene is a major contributor to cellular
            hydrogen sulfide production. Multiple alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Feb 2016].
            
            Transcript Variant: This variant (5) initiates translation at an
            alternate start codon compared to variant 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR14038196.765353.1,
                                           SRR3476690.870767.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-627               AP001630.1         129213-129839       c
            628-762             AP001630.1         127678-127812       c
            763-842             AP001630.1         127051-127130       c
            843-977             AP001630.1         126822-126956       c
            978-1047            AP001630.1         126638-126707       c
            1048-1139           AP001630.1         125335-125426       c
            1140-1265           AP001630.1         124388-124513       c
            1266-1350           AP001630.1         123746-123830       c
            1351-1456           AP001630.1         121876-121981       c
            1457-1534           AP001630.1         120661-120738       c
            1535-1669           AP001630.1         120269-120403       c
            1670-1778           AP001630.1         119580-119688       c
            1779-1863           AP001630.1         118238-118322       c
            1864-2656           AP001630.1         114626-115418       c
FEATURES             Location/Qualifiers
     source          1..2656
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2656
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="cystathionine beta-synthase"
                     /db_xref="GeneID:875"
                     /db_xref="HGNC:HGNC:1550"
                     /db_xref="MIM:613381"
     exon            1..627
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             627..1967
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /EC_number="4.2.1.22"
                     /note="isoform 2 is encoded by transcript variant 5;
                     serine sulfhydrase; beta-thionase; methylcysteine
                     synthase; Cystathionine beta-synthase-like protein"
                     /codon_start=1
                     /product="cystathionine beta-synthase isoform 2"
                     /protein_id="NP_001308001.1"
                     /db_xref="GeneID:875"
                     /db_xref="HGNC:HGNC:1550"
                     /db_xref="MIM:613381"
                     /translation="MAKCEFFNAGGSVKDRISLRMIEDAERDGTLKPGDTIIEPTSGN
                     TGIGLALAAAVRGYRCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSPESHVGVA
                     WRLKNEIPNSHILDQYRNASNPLAHYDTTADEILQQCDGKLDMLVASVGTGGTITGIA
                     RKLKEKCPGCRIIGVDPEGSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTVVDKW
                     FKSNDEEAFTFARMLIAQEGLLCGGSAGSTVAVAVKAAQELQEGQRCVVILPDSVRNY
                     MTKFLSDRWMLQKGFLKEEDLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTIEILR
                     EKGFDQAPVVDEAGVILGMVTLGNMLSSLLAGKVQPSDQVGKVIYKQFKQIRLTDTLG
                     RLSHILEMDHFALVVHEQIQYHSTGKSSQRQMVFGVVTAIDLLNFVAAQERDQK"
     exon            628..762
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            763..842
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            843..977
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1047
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1139
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1265
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1350
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1456
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..1534
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1669
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1670..1778
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1779..1863
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..2656
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2638..2643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="hexamer: TATAAA"
     polyA_site      2656
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="major polyA site"
ORIGIN      
        1 gggatcagaa aactcgctgg ttaatgagtg gccaagaaca tatcagctta agtttgggaa
       61 aaacacacaa cagggcattg tgtcagaggg tgaccaaagt gactccccag cagatggacc
      121 agggaacgaa caggtgacct ttgaactgag gccggagtgg aagcagcgag ggtgtgaagg
      181 gccgggtgag ggtcaaaggc agaagcaagc aggtggggag ggttagcgtc atgcctgcta
      241 aggagcagtg gacgggtcct agcacgtgct gtgagccacc cgctgtccag ggagcggtta
      301 cctctgtctt gccagcttcg tggggacaga tagttcagct catcatttat gagacagaga
      361 atgggaattt ggagggtctg tggctggcct cgtcctgggt gcgcaggggg tcacctgagg
      421 tgtggtctga ggcctccggg gaagggcatt tctttgcagg acgcagtttc caggctcaag
      481 aacgtggagg gaattcctaa gggtcgctct tcaccaagag cgcagagccc tggtagacct
      541 cagcatcgtc acagagaaag ctgtgggtgc agaggccttg gggacaaggc ggggacggaa
      601 tttcgtattt cagatgacca aggccaatgg ccaagtgtga gttcttcaac gcgggcggga
      661 gcgtgaagga ccgcatcagc ctgcggatga ttgaggatgc tgagcgcgac gggacgctga
      721 agcccgggga cacgattatc gagccgacat ccgggaacac cgggatcggg ctggccctgg
      781 ctgcggcagt gaggggctat cgctgcatca tcgtgatgcc agagaagatg agctccgaga
      841 aggtggacgt gctgcgggca ctgggggctg agattgtgag gacgcccacc aatgccaggt
      901 tcgactcccc ggagtcacac gtgggggtgg cctggcggct gaagaacgaa atccccaatt
      961 ctcacatcct agaccagtac cgcaacgcca gcaaccccct ggctcactac gacaccaccg
     1021 ctgatgagat cctgcagcag tgtgatggga agctggacat gctggtggct tcagtgggca
     1081 cgggcggcac catcacgggc attgccagga agctgaagga gaagtgtcct ggatgcagga
     1141 tcattggggt ggatcccgaa gggtccatcc tcgcagagcc ggaggagctg aaccagacgg
     1201 agcagacaac ctacgaggtg gaagggatcg gctacgactt catccccacg gtgctggaca
     1261 ggacggtggt ggacaagtgg ttcaagagca acgatgagga ggcgttcacc tttgcccgca
     1321 tgctgatcgc gcaagagggg ctgctgtgcg gtggcagtgc tggcagcacg gtggcggtgg
     1381 ccgtgaaggc cgcgcaggag ctgcaggagg gccagcgctg cgtggtcatt ctgcccgact
     1441 cagtgcggaa ctacatgacc aagttcctga gcgacaggtg gatgctgcag aagggctttc
     1501 tgaaggagga ggacctcacg gagaagaagc cctggtggtg gcacctccgt gttcaggagc
     1561 tgggcctgtc agccccgctg accgtgctcc cgaccatcac ctgtgggcac accatcgaga
     1621 tcctccggga gaagggcttc gaccaggcgc ccgtggtgga tgaggcgggg gtaatcctgg
     1681 gaatggtgac gcttgggaac atgctctcgt ccctgcttgc cgggaaggtg cagccgtcag
     1741 accaagttgg caaagtcatc tacaagcagt tcaaacagat ccgcctcacg gacacgctgg
     1801 gcaggctctc gcacatcctg gagatggacc acttcgccct ggtggtgcac gagcagatcc
     1861 agtaccacag caccgggaag tccagtcagc ggcagatggt gttcggggtg gtcaccgcca
     1921 ttgacttgct gaacttcgtg gccgcccagg agcgggacca gaagtgaagt ccggagcgct
     1981 gggcggtgcg gagcgggccc gccacccttg cccacttctc cttcgctttc ctgagcccta
     2041 aacacacgcg tgattggtaa ctgcctggcc tggcaccgtt atccctgcac acggcacaga
     2101 gcatccgtct cccctcgtta acacatggct tcctaaatgg ccctgtttac ggcctatgag
     2161 atgaaatatg tgattttctc taatgtaact tcctcttagg atgtttcacc aaggaaatat
     2221 tgagagagaa gtcggccagg taggatgaac acaggcaatg actgcgcaga gtggattaaa
     2281 ggcaaaagag agaagagtcc aggaaggggc ggggagaagc ctgggtggct cagcatcctc
     2341 cacgggctgc gccgtctgct cggggctgag ctggcgggag cagtttgcgt gtttgggttt
     2401 tttaattgag atgaaattca aataacctaa aaatcaatca cttgaaagtg aacaatcagc
     2461 ggcatttagt acatccagaa agttgtgtag gcaccacctc tgtcacgttc tggaacattc
     2521 tgtcatcacc ccgtgaagca atcatttccc ctcccgtctt cctcctcccc tggcaactgc
     2581 tgatcgactt tgtgtctctg ttgtctaaaa taggttttcc ctgttctgga catttcatat
     2641 aaatggaatc acacaa
//
