LOCUS       NM_001354014            2647 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens cystathionine beta-synthase like (LOC102724560),
            transcript variant 8, mRNA.
ACCESSION   NM_001354014 XM_011546094
VERSION     NM_001354014.1
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 2647)
  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 2647)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2647)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2647)
  AUTHORS   Kumar,A., Wissbrock,A., Goradia,N., Bellstedt,P., Ramachandran,R.,
            Imhof,D. and Ohlenschlager,O.
  TITLE     Heme interaction of the intrinsically disordered N-terminal peptide
            segment of human cystathionine-beta-synthase
  JOURNAL   Sci Rep 8 (1), 2474 (2018)
   PUBMED   29410458
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2647)
  AUTHORS   Wei,X., Das,J., Fragoza,R., Liang,J., Bastos de Oliveira,F.M.,
            Lee,H.R., Wang,X., Mort,M., Stenson,P.D., Cooper,D.N., Lipkin,S.M.,
            Smolka,M.B. and Yu,H.
  TITLE     A massively parallel pipeline to clone DNA variants and examine
            molecular phenotypes of human disease mutations
  JOURNAL   PLoS Genet 10 (12), e1004819 (2014)
   PUBMED   25502805
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2647)
  AUTHORS   Kabil,O., Zhou,Y. and Banerjee,R.
  TITLE     Human cystathionine beta-synthase is a target for sumoylation
  JOURNAL   Biochemistry 45 (45), 13528-13536 (2006)
   PUBMED   17087506
REFERENCE   7  (bases 1 to 2647)
  AUTHORS   Hu,Y.H., Warnatz,H.J., Vanhecke,D., Wagner,F., Fiebitz,A.,
            Thamm,S., Kahlem,P., Lehrach,H., Yaspo,M.L. and Janitz,M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2647)
  AUTHORS   Chen,X., Jhee,K.H. and Kruger,W.D.
  TITLE     Production of the neuromodulator H2S by cystathionine beta-synthase
            via the condensation of cysteine and homocysteine
  JOURNAL   J Biol Chem 279 (50), 52082-52086 (2004)
   PUBMED   15520012
REFERENCE   9  (bases 1 to 2647)
  AUTHORS   Meier,M., Janosik,M., Kery,V., Kraus,J.P. and Burkhard,P.
  TITLE     Structure of human cystathionine beta-synthase: a unique pyridoxal
            5'-phosphate-dependent heme protein
  JOURNAL   EMBO J 20 (15), 3910-3916 (2001)
   PUBMED   11483494
REFERENCE   10 (bases 1 to 2647)
  AUTHORS   Kery,V., Bukovska,G. and Kraus,J.P.
  TITLE     Transsulfuration depends on heme in addition to pyridoxal
            5'-phosphate. Cystathionine beta-synthase is a heme protein
  JOURNAL   J Biol Chem 269 (41), 25283-25288 (1994)
   PUBMED   7929220
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            FP236240.8.
            
            On Aug 29, 2017 this sequence version replaced XM_011546094.1.
            
            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. NM_001354014 is annotated on a
            scaffold that is thought to be a false duplication and thus this
            accession is possibly redundant with other RefSeq accessions.
            
            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 :: SRR1803612.175179.1,
                                           SRR3476690.500455.1 [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
            1-176               FP236240.8         40190-40365         c
            177-252             FP236240.8         37686-37761         c
            253-469             FP236240.8         36405-36621         c
            470-576             FP236240.8         32929-33035         c
            577-711             FP236240.8         30663-30797         c
            712-791             FP236240.8         30036-30115         c
            792-926             FP236240.8         29807-29941         c
            927-996             FP236240.8         29623-29692         c
            997-1088            FP236240.8         28320-28411         c
            1089-1214           FP236240.8         27373-27498         c
            1215-1299           FP236240.8         26731-26815         c
            1300-1405           FP236240.8         24861-24966         c
            1406-1483           FP236240.8         23646-23723         c
            1484-1618           FP236240.8         23254-23388         c
            1619-1727           FP236240.8         22565-22673         c
            1728-1812           FP236240.8         21223-21307         c
            1813-1854           FP236240.8         20478-20519         c
            1855-2647           FP236240.8         17611-18403         c
FEATURES             Location/Qualifiers
     source          1..2647
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21p12"
     gene            1..2647
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /note="cystathionine beta-synthase like"
                     /db_xref="GeneID:102724560"
     exon            1..176
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            177..252
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            253..469
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     CDS             261..1958
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /EC_number="4.2.1.22"
                     /note="isoform b is encoded by transcript variant 8;
                     beta-thionase; serine sulfhydrase; cystathionine
                     beta-synthase-like protein"
                     /codon_start=1
                     /product="cystathionine beta-synthase isoform b"
                     /protein_id="NP_001340943.1"
                     /db_xref="GeneID:102724560"
                     /translation="MPSETPQAEVGPTGCPHRSGPHSAKGSLEKGSPEDKEAKEPLWI
                     RPDAPSRCTWQLGRPASESPHHHTAPAKSPKILPDILKKIGDTPMVRINKIGKKFGLK
                     CELLAKCEFFNAGGSVKDRISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAV
                     RGYRCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSPESHVGVAWRLKNEIPNSH
                     ILDQYRNASNPLAHYDTTADEILQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCR
                     IIGVDPEGSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTF
                     ARMLIAQEGLLCGGSAGSTVAVAVKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWML
                     QKGFLKEEDLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTIEILREKGFDQAPVVD
                     EAGVILGMVTLGNMLSSLLAGKVQPSDQVGKVIYKQFKQIRLTDTLGRLSHILEMDHF
                     ALVVHEQIQSQDQAWAGVVGGPADHSTGKSSQRQMVFGVVTAIDLLNFVAAQERDQK"
     exon            470..576
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            577..711
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            712..791
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            792..926
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            927..996
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1088
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1214
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1299
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1405
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1483
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1484..1618
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1727
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1728..1812
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1813..1854
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..2647
                     /gene="LOC102724560"
                     /gene_synonym="CBS; CBSL"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gtgctctgcc acgagacatt ggccggcgcc ggcctccgcc cccgcctctc cgccaatcac
       61 cgcccgcctg ctcccctcgc cgtgggtccc cgcgaggccg ccaccccggg gtcgccgtct
      121 ccgcctcgcc gcagtcgggg cagccgctcg cccctctttt ccatgtatcc gtccaggatc
      181 ccatgacaga ttctgttgtc acgtctcctt acagagtttg agcggtgctg aactgtcagc
      241 accatctgtc cggtcccagc atgccttctg agacccccca ggcagaagtg gggcccacag
      301 gctgccccca ccgctcaggg ccacactcgg cgaaggggag cctggagaag gggtccccag
      361 aggataagga agccaaggag cccctgtgga tccggcccga tgctccgagc aggtgcacct
      421 ggcagctggg ccggcctgcc tccgagtccc cacatcacca cactgccccg gcaaaatctc
      481 caaaaatctt gccagatatt ctgaagaaaa tcggggacac ccctatggtc agaatcaaca
      541 agattgggaa gaagttcggc ctgaagtgtg agctcttggc caagtgtgag ttcttcaacg
      601 cgggcgggag cgtgaaggac cgcatcagcc tgcggatgat tgaggatgct gagcgcgacg
      661 ggacgctgaa gcccggggac acgattatcg agccgacatc cgggaacacc gggatcgggc
      721 tggccctggc tgcggcagtg aggggctatc gctgcatcat cgtgatgcca gagaagatga
      781 gctccgagaa ggtggacgtg ctgcgggcac tgggggctga gattgtgagg acgcccacca
      841 atgccaggtt cgactccccg gagtcacacg tgggggtggc ctggcggctg aagaacgaaa
      901 tccccaattc tcacatccta gaccagtacc gcaacgccag caaccccctg gctcactatg
      961 acaccaccgc tgatgagatc ctgcagcagt gtgatgggaa gctggacatg ctggtggctt
     1021 cagtgggcac gggcggcacc atcacgggca ttgccaggaa gctgaaggag aagtgtcctg
     1081 gatgcaggat cattggggtg gatcccgaag ggtccatcct cgcagagccg gaggagctga
     1141 accagacgga gcagacaacc tacgaggtgg aagggatcgg ctacgacttc atccccacgg
     1201 tgctggacag gacggtggtg gacaagtggt tcaagagcaa cgatgaggag gcgttcacct
     1261 ttgcccgcat gctgatcgcg caagaggggc tgctgtgcgg tggcagtgct ggcagcacgg
     1321 tggcggtggc cgtgaaggcc gcgcaggagc tgcaggaggg ccagcgctgc gtggtcattc
     1381 tgcccgactc agtgcggaac tacatgacca agttcctgag cgacaggtgg atgctgcaga
     1441 agggctttct gaaggaggag gacctcacgg agaagaagcc ctggtggtgg cacctccgtg
     1501 ttcaggagct gggcctgtca gccccgctga ccgtgctccc gaccatcacc tgtgggcaca
     1561 ccatcgagat cctccgggag aagggcttcg accaggcgcc cgtggtggat gaggcggggg
     1621 taatcctggg aatggtgacg cttgggaaca tgctctcgtc cctgcttgcc gggaaggtgc
     1681 agccgtcaga ccaagttggc aaagtcatct acaagcagtt caaacagatc cgcctcacgg
     1741 acacgctggg caggctctcg cacatcctgg agatggacca cttcgccctg gtggtgcacg
     1801 agcagatcca gtcgcaggac caggcctggg caggcgtggt gggggggcct gcagaccaca
     1861 gcaccgggaa gtccagtcag cggcagatgg tgttcggggt ggtcaccgcc attgacttgc
     1921 tgaacttcgt ggccgcccag gagcgggacc agaagtgaag tccggagcgc tgggcggtgc
     1981 ggagcgggcc cgccaccctt gcccacttct ccttcgcttt cctgagccct aaacacacgc
     2041 gtgattggta actgcctggc ctggcaccgt tatccctgca cacggcacag agcatccgtc
     2101 tcccctcgtt aacacatggc ttcctaaatg gccctgttta cggcctatga gatgaaatat
     2161 gtgattttct ctaatgtaac ttcctcttag gatgtttcac caaggaaata ttgagagaga
     2221 agtcggccag gtaggatgaa cacaggcaat gactgcgcag agtggattaa aggcaaaaga
     2281 gagaagagtc caggaagggg cggggagaag cctgggtggc tcagcatcct ccacgggctg
     2341 cgccgtctgc tcggggctga gctggcggga gcagtttgcg tgtttgggtt ttttaattga
     2401 gatgaaattc aaataaccta aaaatcaatc acttgaaagt gaacaatcag cggcatttag
     2461 tacatccaga aagttgtgta ggcaccacct ctgtcacgtt ctggaacatt ctgtcatcac
     2521 cccgtgaagc aatcatttcc cctcccgtct tcctcctccc ctggcaactg ctgatcgact
     2581 ttgtgtctct gttgtctaaa ataggttttc cctgttctgg acatttcata taaatggaat
     2641 cacacaa
//
