LOCUS       NM_001713               2470 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens betaine--homocysteine S-methyltransferase (BHMT),
            mRNA.
ACCESSION   NM_001713
VERSION     NM_001713.3
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 2470)
  AUTHORS   Yan,H., Liu,W., Xiang,R., Li,X., Hou,S., Xu,L., Wang,L., Zhao,D.,
            Liu,X., Wang,G., Chi,Y. and Yang,J.
  TITLE     Ribosomal modification protein rimK-like family member A activates
            betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic
            steatosis
  JOURNAL   Signal Transduct Target Ther 9 (1), 214 (2024)
   PUBMED   39117631
  REMARK    GeneRIF: Ribosomal modification protein rimK-like family member A
            activates betaine-homocysteine S-methyltransferase 1 to ameliorate
            hepatic steatosis.
            Erratum:[Signal Transduct Target Ther. 2024 Dec 11;9(1):360. doi:
            10.1038/s41392-024-02054-1.. PMID: 39663370]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2470)
  AUTHORS   Zhang,W.H., Zhao,S.M., Guo,J.F., Liu,Y.P. and Jiang,Y.Q.
  TITLE     BHMT polymorphism and susceptibility to PTE in Chinese patients
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (9), 4098-4102 (2023)
   PUBMED   37203835
  REMARK    GeneRIF: BHMT polymorphism and susceptibility to PTE in Chinese
            patients.
            Erratum:[Eur Rev Med Pharmacol Sci. 2023 Jul;27(13):5947. doi:
            10.26355/eurrev_202307_32944.. PMID: 37458620]
REFERENCE   3  (bases 1 to 2470)
  AUTHORS   Sun,Y.H., Gao,J., Liu,X.D., Tang,H.W., Cao,S.L., Zhang,J.K.,
            Wen,P.H., Wang,Z.H., Li,J., Guo,W.Z. and Zhang,S.J.
  TITLE     Interaction analysis of gene variants related to one-carbon
            metabolism with chronic hepatitis B infection in Chinese patients
  JOURNAL   J Gene Med 23 (8), e3347 (2021)
   PUBMED   33894044
  REMARK    GeneRIF: Interaction analysis of gene variants related to
            one-carbon metabolism with chronic hepatitis B infection in Chinese
            patients.
REFERENCE   4  (bases 1 to 2470)
  AUTHORS   Sternbach,S., West,N., Singhal,N.K., Clements,R., Basu,S.,
            Tripathi,A., Dutta,R., Freeman,E.J. and McDonough,J.
  TITLE     The BHMT-betaine methylation pathway epigenetically modulates
            oligodendrocyte maturation
  JOURNAL   PLoS One 16 (5), e0250486 (2021)
   PUBMED   33975330
  REMARK    GeneRIF: The BHMT-betaine methylation pathway epigenetically
            modulates oligodendrocyte maturation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2470)
  AUTHORS   Huang,X., Li,D., Zhao,Q., Zhang,C., Ren,B., Yue,L., Du,B.,
            Godfrey,O., Wang,X. and Zhang,W.
  TITLE     Association between BHMT and CBS gene promoter methylation with the
            efficacy of folic acid therapy in patients with
            hyperhomocysteinemia
  JOURNAL   J Hum Genet 64 (12), 1227-1235 (2019)
   PUBMED   31558761
  REMARK    GeneRIF: Lower levels of BHMT or CBS promoter total methylation
            might be associated with increased the risk of treatment failure.
REFERENCE   6  (bases 1 to 2470)
  AUTHORS   Park,E.I. and Garrow,T.A.
  TITLE     Interaction between dietary methionine and methyl donor intake on
            rat liver betaine-homocysteine methyltransferase gene expression
            and organization of the human gene
  JOURNAL   J Biol Chem 274 (12), 7816-7824 (1999)
   PUBMED   10075673
REFERENCE   7  (bases 1 to 2470)
  AUTHORS   Millian,N.S. and Garrow,T.A.
  TITLE     Human betaine-homocysteine methyltransferase is a zinc
            metalloenzyme
  JOURNAL   Arch Biochem Biophys 356 (1), 93-98 (1998)
   PUBMED   9681996
REFERENCE   8  (bases 1 to 2470)
  AUTHORS   Sunden,S.L., Renduchintala,M.S., Park,E.I., Miklasz,S.D. and
            Garrow,T.A.
  TITLE     Betaine-homocysteine methyltransferase expression in porcine and
            human tissues and chromosomal localization of the human gene
  JOURNAL   Arch Biochem Biophys 345 (1), 171-174 (1997)
   PUBMED   9281325
REFERENCE   9  (bases 1 to 2470)
  AUTHORS   Garrow,T.A.
  TITLE     Purification, kinetic properties, and cDNA cloning of mammalian
            betaine-homocysteine methyltransferase
  JOURNAL   J Biol Chem 271 (37), 22831-22838 (1996)
   PUBMED   8798461
REFERENCE   10 (bases 1 to 2470)
  AUTHORS   McKeever,M.P., Weir,D.G., Molloy,A. and Scott,J.M.
  TITLE     Betaine-homocysteine methyltransferase: organ distribution in man,
            pig and rat and subcellular distribution in the rat
  JOURNAL   Clin Sci (Lond) 81 (4), 551-556 (1991)
   PUBMED   1657504
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012616.1 and BM678994.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001713.2.
            
            Summary: This gene encodes a cytosolic enzyme that catalyzes the
            conversion of betaine and homocysteine to dimethylglycine and
            methionine, respectively. Defects in this gene could lead to
            hyperhomocyst(e)inemia, but such a defect has not yet been
            observed. [provided by RefSeq, Jul 2008].
            
            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 :: SRR5189664.171917.1, EU794592.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274353.10/ ENSP00000274353.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2465              BC012616.1         5-2469
            2466-2470           BM678994.1         18-22               c
FEATURES             Location/Qualifiers
     source          1..2470
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..2470
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /note="betaine--homocysteine S-methyltransferase"
                     /db_xref="GeneID:635"
                     /db_xref="HGNC:HGNC:1047"
                     /db_xref="MIM:602888"
     exon            1..110
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1298
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /EC_number="2.1.1.5"
                     /note="epididymis secretory sperm binding protein Li 61p"
                     /codon_start=1
                     /product="betaine--homocysteine S-methyltransferase 1"
                     /protein_id="NP_001704.2"
                     /db_xref="CCDS:CCDS4046.1"
                     /db_xref="GeneID:635"
                     /db_xref="HGNC:HGNC:1047"
                     /db_xref="MIM:602888"
                     /translation="MPPVGGKKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPW
                     TPEAAVEHPEAVRQLHREFLRAGSNVMQTFTFYASEDKLENRGNYVLEKISGQEVNEA
                     ACDIARQVADEGDALVAGGVSQTPSYLSCKSETEVKKVFLQQLEVFMKKNVDFLIAEY
                     FEHVEEAVWAVETLIASGKPVAATMCIGPEGDLHGVPPGECAVRLVKAGASIIGVNCH
                     FDPTISLKTVKLMKEGLEAARLKAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVA
                     TRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRAIAEELAPERGFLPPASEKHGSWGSG
                     LDMHTKPWVRARARKEYWENLRIASGRPYNPSMSKPDGWGVTKGTAELMQQKEATTEQ
                     QLKELFEKQKFKSQ"
     exon            111..243
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /inference="alignment:Splign:2.1.0"
     exon            244..362
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /inference="alignment:Splign:2.1.0"
     exon            363..554
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /inference="alignment:Splign:2.1.0"
     exon            555..702
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /inference="alignment:Splign:2.1.0"
     exon            703..885
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1114
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..2470
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2446..2451
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /note="hexamer: ATTAAA"
     polyA_site      2470
                     /gene="BHMT"
                     /gene_synonym="BHMT1; HEL-S-61p"
                     /note="major polyA site"
ORIGIN      
        1 agctcggggc tgcgcagcgg gaaggctcgc ctagtcggtc cgcatccgtg tcgaccacct
       61 gtctggacac cacgaagatg ccacccgttg ggggcaaaaa ggccaagaag ggcatcctag
      121 aacgtttaaa tgctggagag attgtgattg gagatggagg gtttgtcttt gcactggaga
      181 agaggggcta cgtaaaggca ggaccctgga ctcctgaagc tgctgtggag cacccagaag
      241 cagttcgcca gcttcatcga gagttcctca gagctggctc aaacgtcatg cagaccttca
      301 ccttctatgc gagtgaagac aagctggaga acaggggcaa ctatgtctta gagaagatat
      361 ctgggcagga agtcaatgaa gctgcttgcg acatcgcccg acaagtggct gatgaaggag
      421 atgctttggt agcaggagga gtgagtcaga caccttcata ccttagctgc aagagtgaaa
      481 ctgaagtcaa aaaagtattt ctgcaacagt tagaggtctt tatgaagaag aacgtggact
      541 tcttgattgc agagtatttt gaacacgttg aagaagctgt gtgggcagtt gaaaccttga
      601 tagcatccgg taaacctgtg gcagcaacca tgtgcattgg cccagaagga gatttgcatg
      661 gcgtgccccc cggcgagtgt gcagtgcgcc tggtgaaagc aggagcatcc atcattggtg
      721 tgaactgcca ctttgacccc accattagtt taaaaacagt gaagctcatg aaggagggct
      781 tggaggctgc ccgactgaaa gctcacctga tgagccagcc cttggcttac cacactcctg
      841 actgcaacaa gcagggattc atcgatctcc cagaattccc atttggactg gaacccagag
      901 ttgccaccag atgggatatt caaaaatacg ccagagaggc ctacaacctg ggggtcaggt
      961 acattggcgg gtgctgtgga tttgagccct accacatcag ggcaattgca gaggagctgg
     1021 ccccagaaag gggctttttg ccaccagctt cagaaaaaca tggcagctgg ggaagtggtt
     1081 tggacatgca caccaaaccc tgggttagag caagggccag gaaggaatac tgggagaatc
     1141 ttcggatagc ctcaggccgg ccatacaacc cttcaatgtc aaagccagat ggctggggag
     1201 tgaccaaagg aacagccgag ctgatgcagc agaaagaagc cacaactgag cagcagctga
     1261 aagagctctt tgaaaaacaa aaattcaaat cacagtagcc tcgatagaag ctatttttga
     1321 tgaatttcta ggtgtttggg tcacagttcc tacaaatacg gaaaaggggg ttaaaaagca
     1381 gtgctttcat gaatgccatc ctacacatat tattgctatt acctgaacaa aatagaatta
     1441 caaatagcac ttgataattt taaagtatgt tttagaaatt ttcttaggag caaaataagt
     1501 acaaagtaaa tcttgaacag gttcactaag cacccaccct gtgaaaagta ttatggaaat
     1561 cactgctgca caggaaaagt aattcagatg ttaatgccac ttgaagaagt tggtaggcta
     1621 gcaaagagga tgagacatga actgtcataa aggactcagc aaccagccag ggacagataa
     1681 agcgctatgg aaaggggctt ccaagttctt ttgaacatga cccttagtaa caaacacaat
     1741 ttatataatg acccagcaaa acacatcaca tcttactgtc gaaattaaat gtgtgatcca
     1801 tcctagtatt ttctgttcca ttccttttca ttctatttca tttataaaac atgctagttg
     1861 agacttttca aatggatttt tatgacccac tactgggttt ggatccacag tttgaaaaat
     1921 attgctacaa gacacttaag gagaccatcc tgtttaagtt tattcttata agtaggtcag
     1981 tcatatgaga cctgatcaat aaatatccaa tacccagagt cctgctctca gagttcttct
     2041 gtttcgtgac ccacttttct accagtaaaa gacatagacc aatggggagg aggggaggag
     2101 agatggatat ttcagccctc tccatcctag tcaacactgg atccacctag tgcctctggg
     2161 ccataaggct gagcagagtg agcttgtatt agttggtagc ttttaaaaaa tataataaga
     2221 aaaaagtaga gattctccaa actctagcct ggtttcctag attgagaact atgatatttt
     2281 tctctgataa tttaatatct actctcctac aaaagctcaa gcctgaagat acaagactat
     2341 tagaagaaac atgactaccc tcagtgtatt agaaaagagg tcatgcagct ttctaaacat
     2401 tattgaattg tttgagctgt tttgaaattg taattctttt cagctattaa aaagaagagc
     2461 aatgagacta
//
