LOCUS       NM_000071               2495 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens cystathionine beta-synthase (CBS), transcript variant
            1, mRNA.
ACCESSION   NM_000071
VERSION     NM_000071.3
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 2495)
  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 2495)
  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 2495)
  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 2495)
  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 2495)
  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 2495)
  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 2495)
  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 2495)
  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 2495)
  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 2495)
  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 DC300040.1, BC000440.2,
            AL137314.1 and X82166.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000071.2.
            
            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].
            
            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 :: X82166.1, BC000440.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398165.8/ ENSP00000381231.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-355               DC300040.1         96-450
            356-1815            BC000440.2         326-1785
            1816-2349           AL137314.1         1438-1971
            2350-2495           X82166.1           2346-2491
FEATURES             Location/Qualifiers
     source          1..2495
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2495
                     /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..66
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            67..142
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            143..359
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             151..1806
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /EC_number="4.2.1.22"
                     /note="isoform 1 is encoded by transcript variant 1;
                     serine sulfhydrase; beta-thionase; methylcysteine
                     synthase; Cystathionine beta-synthase-like protein"
                     /codon_start=1
                     /product="cystathionine beta-synthase isoform 1"
                     /protein_id="NP_000062.1"
                     /db_xref="CCDS:CCDS13693.1"
                     /db_xref="GeneID:875"
                     /db_xref="HGNC:HGNC:1550"
                     /db_xref="MIM:613381"
                     /translation="MPSETPQAEVGPTGCPHRSGPHSAKGSLEKGSPEDKEAKEPLWI
                     RPDAPSRCTWQLGRPASESPHHHTAPAKSPKILPDILKKIGDTPMVRINKIGKKFGLK
                     CELLAKCEFFNAGGSVKDRISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAV
                     RGYRCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSPESHVGVAWRLKNEIPNSH
                     ILDQYRNASNPLAHYDTTADEILQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCR
                     IIGVDPEGSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTF
                     ARMLIAQEGLLCGGSAGSTVAVAVKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWML
                     QKGFLKEEDLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTIEILREKGFDQAPVVD
                     EAGVILGMVTLGNMLSSLLAGKVQPSDQVGKVIYKQFKQIRLTDTLGRLSHILEMDHF
                     ALVVHEQIQYHSTGKSSQRQMVFGVVTAIDLLNFVAAQERDQK"
     exon            360..466
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            467..601
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            602..681
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            682..816
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            817..886
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            887..978
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1104
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1189
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1295
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1373
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1508
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1509..1617
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1702
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..2495
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2477..2482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="hexamer: TATAAA"
     polyA_site      2495
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="major polyA site"
ORIGIN      
        1 gtcgccgtct ccgcctcgcc gcagtcgggg cagccgctcg cccctctttt ccatgtatcc
       61 gtccaggatc ccatgacaga ttctgttgtc acgtctcctt acagagtttg agcggtgctg
      121 aactgtcagc accatctgtc cggtcccagc atgccttctg agacccccca ggcagaagtg
      181 gggcccacag gctgccccca ccgctcaggg ccacactcgg cgaaggggag cctggagaag
      241 gggtccccag aggataagga agccaaggag cccctgtgga tccggcccga tgctccgagc
      301 aggtgcacct ggcagctggg ccggcctgcc tccgagtccc cacatcacca cactgccccg
      361 gcaaaatctc caaaaatctt gccagatatt ctgaagaaaa tcggggacac ccctatggtc
      421 agaatcaaca agattgggaa gaagttcggc ctgaagtgtg agctcttggc caagtgtgag
      481 ttcttcaacg cgggcgggag cgtgaaggac cgcatcagcc tgcggatgat tgaggatgct
      541 gagcgcgacg ggacgctgaa gcccggggac acgattatcg agccgacatc cgggaacacc
      601 gggatcgggc tggccctggc tgcggcagtg aggggctatc gctgcatcat cgtgatgcca
      661 gagaagatga gctccgagaa ggtggacgtg ctgcgggcac tgggggctga gattgtgagg
      721 acgcccacca atgccaggtt cgactccccg gagtcacacg tgggggtggc ctggcggctg
      781 aagaacgaaa tccccaattc tcacatccta gaccagtacc gcaacgccag caaccccctg
      841 gctcactacg acaccaccgc tgatgagatc ctgcagcagt gtgatgggaa gctggacatg
      901 ctggtggctt cagtgggcac gggcggcacc atcacgggca ttgccaggaa gctgaaggag
      961 aagtgtcctg gatgcaggat cattggggtg gatcccgaag ggtccatcct cgcagagccg
     1021 gaggagctga accagacgga gcagacaacc tacgaggtgg aagggatcgg ctacgacttc
     1081 atccccacgg tgctggacag gacggtggtg gacaagtggt tcaagagcaa cgatgaggag
     1141 gcgttcacct ttgcccgcat gctgatcgcg caagaggggc tgctgtgcgg tggcagtgct
     1201 ggcagcacgg tggcggtggc cgtgaaggcc gcgcaggagc tgcaggaggg ccagcgctgc
     1261 gtggtcattc tgcccgactc agtgcggaac tacatgacca agttcctgag cgacaggtgg
     1321 atgctgcaga agggctttct gaaggaggag gacctcacgg agaagaagcc ctggtggtgg
     1381 cacctccgtg ttcaggagct gggcctgtca gccccgctga ccgtgctccc gaccatcacc
     1441 tgtgggcaca ccatcgagat cctccgggag aagggcttcg accaggcgcc cgtggtggat
     1501 gaggcggggg taatcctggg aatggtgacg cttgggaaca tgctctcgtc cctgcttgcc
     1561 gggaaggtgc agccgtcaga ccaagttggc aaagtcatct acaagcagtt caaacagatc
     1621 cgcctcacgg acacgctggg caggctctcg cacatcctgg agatggacca cttcgccctg
     1681 gtggtgcacg agcagatcca gtaccacagc accgggaagt ccagtcagcg gcagatggtg
     1741 ttcggggtgg tcaccgccat tgacttgctg aacttcgtgg ccgcccagga gcgggaccag
     1801 aagtgaagtc cggagcgctg ggcggtgcgg agcgggcccg ccacccttgc ccacttctcc
     1861 ttcgctttcc tgagccctaa acacacgcgt gattggtaac tgcctggcct ggcaccgtta
     1921 tccctgcaca cggcacagag catccgtctc ccctcgttaa cacatggctt cctaaatggc
     1981 cctgtttacg gcctatgaga tgaaatatgt gattttctct aatgtaactt cctcttagga
     2041 tgtttcacca aggaaatatt gagagagaag tcggccaggt aggatgaaca caggcaatga
     2101 ctgcgcagag tggattaaag gcaaaagaga gaagagtcca ggaaggggcg gggagaagcc
     2161 tgggtggctc agcatcctcc acgggctgcg ccgtctgctc ggggctgagc tggcgggagc
     2221 agtttgcgtg tttgggtttt ttaattgaga tgaaattcaa ataacctaaa aatcaatcac
     2281 ttgaaagtga acaatcagcg gcatttagta catccagaaa gttgtgtagg caccacctct
     2341 gtcacgttct ggaacattct gtcatcaccc cgtgaagcaa tcatttcccc tcccgtcttc
     2401 ctcctcccct ggcaactgct gatcgacttt gtgtctctgt tgtctaaaat aggttttccc
     2461 tgttctggac atttcatata aatggaatca cacaa
//
