LOCUS       NM_001134707            3215 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens sarcosine dehydrogenase (SARDH), transcript variant 2,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001134707
VERSION     NM_001134707.2
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 3215)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 3215)
  AUTHORS   Mazdak,M., Tezval,H., Callauch,J.C., Dubrowinskaja,N., Peters,I.,
            Bokemeyer,C., Hennenlotter,J., Stenzl,A., Kuczyk,M.A. and Serth,J.
  TITLE     DNA methylation of sarcosine dehydrogenase (SARDH) loci as a
            prognosticator for renal cell carcinoma
  JOURNAL   Oncol Rep 42 (5), 2159-2168 (2019)
   PUBMED   31545450
  REMARK    GeneRIF: SARDH methylation was found to be a significant prognostic
            factor for recurrencefree survival in renal cell carcinoma patients
            showing statistical independence from the clinical prognosticators,
            grade, stage and state of metastasis.
REFERENCE   3  (bases 1 to 3215)
  AUTHORS   He,H., Chen,E., Lei,L., Yan,B., Zhao,X., Zhu,Z., Li,Q., Zhang,P.,
            Zhang,W., Xing,J., Du,L., Dong,J. and Yang,J.
  TITLE     Alteration of the tumor suppressor SARDH in sporadic colorectal
            cancer: A functional and transcriptome profiling-based study
  JOURNAL   Mol Carcinog 58 (6), 957-966 (2019)
   PUBMED   30693981
  REMARK    GeneRIF: Data first reported a deleterious c.551C>T mutation in
            SARDH in sporadic colorectal cancer (sCRC). SARDH was identified as
            a novel tumor suppressor gene and was abnormally decreased in sCRC
            at both the transcriptional and the translational level. SARDH
            overexpression inhibited the proliferation, migration, and invasion
            of CRC cell lines, whereas its depletion improved these processes.
REFERENCE   4  (bases 1 to 3215)
  AUTHORS   Piao,W., Guo,J., Bao,Y., Wang,F., Zhang,T., Huo,J. and Zhang,K.
  TITLE     Analysis of polymorphisms of genes associated with folate-mediated
            one-carbon metabolism and neural tube defects in Chinese Han
            Population
  JOURNAL   Birth Defects Res A Clin Mol Teratol 106 (4), 232-239 (2016)
   PUBMED   27001897
  REMARK    GeneRIF: The SNPs rs2797840 and rs2073817 in SARDH may serve as an
            indicator for the occurrence of neural tube defects in the Chinese
            Han population, and rs2797840 may also be an indicator for folate
            content of brain.
REFERENCE   5  (bases 1 to 3215)
  AUTHORS   Cha,Y.J., Jung,W.H., Cho,N.H. and Koo,J.S.
  TITLE     Expression of sarcosine metabolism-related proteins in invasive
            lobular carcinoma: comparison to invasive ductal carcinoma
  JOURNAL   Yonsei Med J 56 (3), 598-607 (2015)
   PUBMED   25837163
  REMARK    GeneRIF: Expression of sarcosine metabolism-related proteins
            differed between ILC [invasive lobular carcinoma] and IDC [invasive
            ductal carcinoma].
REFERENCE   6  (bases 1 to 3215)
  AUTHORS   Gilbert,J.R., Kumar,A., Newey,S., Rao,N., Ioannou,P., Qiu,H.,
            Lin,D., Xu,P., Pettenati,M.J. and Pericak-Vance,M.A.
  TITLE     Physical and cDNA mapping in the DBH region of human chromosome
            9q34
  JOURNAL   Hum Hered 50 (3), 151-157 (2000)
   PUBMED   10686491
REFERENCE   7  (bases 1 to 3215)
  AUTHORS   Eschenbrenner,M. and Jorns,M.S.
  TITLE     Cloning and mapping of the cDNA for human sarcosine dehydrogenase,
            a flavoenzyme defective in patients with sarcosinemia
  JOURNAL   Genomics 59 (3), 300-308 (1999)
   PUBMED   10444331
REFERENCE   8  (bases 1 to 3215)
  AUTHORS   Bergeron,F., Otto,A., Blache,P., Day,R., Denoroy,L., Brandsch,R.
            and Bataille,D.
  TITLE     Molecular cloning and tissue distribution of rat sarcosine
            dehydrogenase
  JOURNAL   Eur J Biochem 257 (3), 556-561 (1998)
   PUBMED   9839943
REFERENCE   9  (bases 1 to 3215)
  AUTHORS   London,R.E., Gabel,S.A. and Funk,A.
  TITLE     Metabolism of excess methionine in the liver of intact rat: an in
            vivo 2H NMR study
  JOURNAL   Biochemistry 26 (22), 7166-7172 (1987)
   PUBMED   2447942
REFERENCE   10 (bases 1 to 3215)
  AUTHORS   Porter,D.H., Cook,R.J. and Wagner,C.
  TITLE     Enzymatic properties of dimethylglycine dehydrogenase and sarcosine
            dehydrogenase from rat liver
  JOURNAL   Arch Biochem Biophys 243 (2), 396-407 (1985)
   PUBMED   2417560
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590710.14, AK291211.1,
            AL365494.17 and BC041574.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001134707.1.
            
            Summary: This gene encodes an enzyme localized to the mitochondrial
            matrix which catalyzes the oxidative demethylation of sarcosine.
            This enzyme is distinct from another mitochondrial matrix enzyme,
            dimethylglycine dehydrogenase, which catalyzes a reaction resulting
            in the formation of sarcosine. Mutations in this gene are
            associated with sarcosinemia. Alternatively spliced transcript
            variants have been described. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            isoform.
            
            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 :: SRR1660809.208644.1,
                                           SRR1660803.159439.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000439388.6/
                                                  ENSP00000403084.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL590710.14        61734-61734         c
            2-109               AK291211.1         1-108
            110-110             AL590710.14        57575-57575         c
            111-1244            AK291211.1         110-1243
            1245-1245           AL590710.14        40742-40742         c
            1246-1969           AK291211.1         1245-1968
            1970-1970           AL590710.14        17720-17720         c
            1971-2070           AK291211.1         1970-2069
            2071-2071           AL590710.14        13889-13889         c
            2072-2318           AK291211.1         2071-2317
            2319-2433           AL365494.17        46181-46295         c
            2434-2957           AK291211.1         2433-2956
            2958-3215           BC041574.1         1769-2026
FEATURES             Location/Qualifiers
     source          1..3215
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..3215
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /note="sarcosine dehydrogenase"
                     /db_xref="GeneID:1757"
                     /db_xref="HGNC:HGNC:10536"
                     /db_xref="MIM:604455"
     exon            1..99
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            100..460
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..2886
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /EC_number="1.5.8.3"
                     /note="dimethylglycine dehydrogenase-like 1; sarcosine
                     dehydrogenase, mitochondrial"
                     /codon_start=1
                     /product="sarcosine dehydrogenase, mitochondrial
                     precursor"
                     /protein_id="NP_001128179.1"
                     /db_xref="CCDS:CCDS6978.1"
                     /db_xref="GeneID:1757"
                     /db_xref="HGNC:HGNC:10536"
                     /db_xref="MIM:604455"
                     /translation="MASLSRALRVAAAHPRQSPTRGMGPCNLSSAAGPTAEKSVPYQR
                     TLKEGQGTSVVAQGPSRPLPSTANVVVIGGGSLGCQTLYHLAKLGMSGAVLLERERLT
                     SGTTWHTAGLLWQLRPSDVEVELLAHTRRVVSRELEEETGLHTGWIQNGGLFIASNRQ
                     RLDEYKRLMSLGKAYGVESHVLSPAETKTLYPLMNVDDLYGTLYVPHDGTMDPAGTCT
                     TLARAASARGAQVIENCPVTGIRVWTDDFGVRRVAGVETQHGSIQTPCVVNCAGVWAS
                     AVGRMAGVKVPLVAMHHAYVVTERIEGIQNMPNVRDHDASVYLRLQGDALSVGGYEAN
                     PIFWEEVSDKFAFGLFDLDWEVFTQHIEGAINRVPVLEKTGIKSTVCGPESFTPDHKP
                     LMGEAPELRGFFLGCGFNSAGMMLGGGCGQELAHWIIHGRPEKDMHGYDIRRFHHSLT
                     DHPRWIRERSHESYAKNYSVVFPHDEPLAGRNMRRDPLHEELLGQGCVFQERHGWERP
                     GWFHPRGPAPVLEYDYYGAYGSRAHEDYAYRRLLADEYTFAFPPHHDTIKKECLACRG
                     AAAVFDMSYFGKFYLVGLDARKAADWLFSADVSRPPGSTVYTCMLNHRGGTESDLTVS
                     RLAPSHQASPLAPAFEGDGYYLAMGGAVAQHNWSHITTVLQDQKSQCQLIDSSEDLGM
                     ISIQGPASRAILQEVLDADLSNEAFPFSTHKLLRAAGHLVRAMRLSFVGELGWELHIP
                     KASCVPVYRAVMAAGAKHGLINAGYRAIDSLSIEKGYRHWHADLRPDDSPLEAGLAFT
                     CKLKSPVPFLGREALEQQRAAGLRRRLVCFTMEDKVPMFGLEAIWRNGQVVGHVRRAD
                     FGFAIDKTIAYGYIHDPSGGPVSLDFVKSGDYALERMGVTYGAQAHLKSPFDPNNKRV
                     KGIY"
     exon            461..639
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            640..819
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            820..943
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1044
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1149
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1279
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1366
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1457
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1458..1599
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1683
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1797
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1798..1936
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1937..2050
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2051..2198
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2199..2292
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2293..2455
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2456..2624
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2625..2760
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2761..3215
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3186..3191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /note="hexamer: AGTAAA"
     polyA_site      3215
                     /gene="SARDH"
                     /gene_synonym="BPR-2; DMGDHL1; SAR; SARD; SDH"
                     /note="major polyA site"
ORIGIN      
        1 ggagttccgg ccaggccact gcttgggaag caagaaggtg aaggcacctc tgctgggcca
       61 agcactctta gggccgaggg gcactgcagc tgacaagagc tccctgtttc gctgaggcct
      121 ggagccccca tggcctcact gagccgagcc ctacgtgtgg ctgctgccca ccctcgccag
      181 agccctaccc ggggcatggg gccatgcaac ctgtccagcg cagctggccc cacagccgag
      241 aagagtgtgc catatcagcg gaccctgaag gagggacagg gcacctcggt ggtggcccaa
      301 ggcccaagcc ggcccctgcc cagcacggcc aacgtggtgg tcattggtgg aggcagcttg
      361 ggctgccaga ccctgtacca cctggccaag ctgggcatga gtggggcggt gctgctggag
      421 cgggagcggc tgacctccgg gaccacctgg cacacggcag gcctgctgtg gcagctgcgg
      481 cccagtgacg tggaggtgga gcttctggcc cacactcggc gggtggtgag ccgggagctg
      541 gaggaggaga cgggactaca cacgggctgg atccagaatg ggggcctctt catcgcgtcc
      601 aaccggcagc gcctggacga gtacaagagg ctcatgtcgc tgggcaaggc gtatggtgtg
      661 gaatcccatg tgctgagccc ggcagagacc aagactctgt acccgctgat gaatgtggac
      721 gacctctacg ggaccctgta tgtgccgcac gacggtacca tggaccccgc tggcacctgt
      781 accaccctcg ccagggcagc ttctgcccga ggagcacagg tcattgagaa ctgcccagtg
      841 accggcattc gtgtgtggac ggatgatttt ggggtgcggc gggtcgcggg tgtggagact
      901 cagcatggtt ccatccagac accctgcgtg gtcaactgtg caggagtgtg ggcaagtgct
      961 gtgggccgga tggctggagt caaggtcccg ctggtggcca tgcaccatgc ctatgtcgtc
     1021 accgagcgca tcgaggggat tcagaacatg cccaatgtcc gtgatcatga tgcctctgtc
     1081 tacctccgcc tccaagggga tgccttgtct gtgggtggct atgaggccaa ccccatcttt
     1141 tgggaggagg tgtcagacaa gtttgccttc ggcctctttg acctggactg ggaggtgttc
     1201 acccagcaca ttgaaggcgc catcaacagg gtccccgtgc tggagaagac aggaatcaag
     1261 tccacggtct gcggccctga atccttcacg cccgaccaca agcccctgat gggggaggca
     1321 cctgagctcc gagggttctt cctgggctgt ggcttcaaca gcgcaggaat gatgctgggt
     1381 ggtggctgtg ggcaggagct ggcccactgg atcatccatg ggcgcccgga gaaggacatg
     1441 catggctatg acatcaggcg cttccatcac tcgctcacgg accacccccg ctggatccga
     1501 gagcgaagcc atgagtccta cgccaagaac tactccgtcg tcttccccca cgatgagccg
     1561 ctggccgggc gcaacatgag gagagacccg ctgcacgagg aactccttgg acaaggctgc
     1621 gtgttccagg agcggcatgg ctgggagcga ccgggatggt ttcatccccg aggcccagct
     1681 ccggtcctcg agtacgacta ctacggggct tacgggagcc gcgcgcacga ggactacgcc
     1741 taccgcaggc tgctggcaga cgagtacacc ttcgccttcc cgccccacca cgacacgatc
     1801 aagaaggagt gcctggcctg cagaggggcc gccgctgtgt ttgacatgtc ctacttcggg
     1861 aagttctacc tggtggggct ggatgcaagg aaggctgccg actggctctt ctccgcagat
     1921 gtcagccgac ccccaggctc caccgtgtac acgtgcatgc tcaaccaccg tgggggcacc
     1981 gagagtgacc tgactgtcag ccgcctggca cccagccacc aggcctcccc gctggccccc
     2041 gcctttgaag gggacggtta ctacctggcc atgggcgggg ccgtggccca gcacaactgg
     2101 tcccacatca ccaccgtgct gcaggaccag aagtcccagt gccagctcat cgacagctcc
     2161 gaggacctgg gtatgatcag tatccagggc ccagccagcc gagccatttt gcaggaggtg
     2221 ctggacgcag acctgagcaa cgaggccttc ccgttctcca cccacaagct actgagagcc
     2281 gcagggcacc tggtccgagc catgcggctg tcctttgtgg gggagctggg ctgggagctg
     2341 cacattccaa aggcgtcctg cgtgcctgtg taccgggctg tgatggccgc gggtgccaag
     2401 cacggcctca tcaacgcagg gtaccgcgcc atcgactccc tgagcattga gaaaggctac
     2461 cggcactggc acgcggacct gcggccagac gacagccccc tggaggcagg cctggccttc
     2521 acctgcaagc tcaagtcgcc ggtgcccttc ctggggaggg aggccctgga gcagcagcgg
     2581 gccgcaggcc tccgccggcg cctggtgtgc ttcaccatgg aggacaaagt acccatgttt
     2641 ggcctggagg ccatctggag gaacggccaa gtggtgggcc atgtccggag ggctgacttt
     2701 gggttcgcca tcgacaagac catcgcctac ggttacatcc atgaccccag cggtgggccg
     2761 gtctcgctgg actttgtgaa gagcggggac tatgccctgg agagaatggg ggtgacctat
     2821 ggtgcccagg ctcacctgaa gtcgcccttc gaccccaaca acaagagggt gaagggaatc
     2881 tactgagggc tcagaccaca tgccccatcc catgctgtcc atccattctc acaggtccca
     2941 aatggccctg ggtcccagga ccctggaccc agccagaact tgtgccctcc ctgtccttag
     3001 cctaggccta gtcctgcgaa aacccccaaa ccagatacgg acagagacca agatggccca
     3061 tcctgtggtc actgactgga aggcagtctc taatccaccc caatcctccc agaaagcaaa
     3121 cctgtaagtg tcttgggctc agggaccatg gcttgtagcc ctttccaagc ttctagaagg
     3181 tgcttagtaa atacttgata agccccacgt gaaaa
//
