LOCUS       NM_003104               4818 bp    mRNA    linear   PRI 26-FEB-2024
DEFINITION  Homo sapiens sorbitol dehydrogenase (SORD), transcript variant 1,
            mRNA.
ACCESSION   NM_003104 XM_939180
VERSION     NM_003104.6
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 4818)
  AUTHORS   Kabeloglu,V., Aksoy,S. and Soysal,A.
  TITLE     Hereditary polyneuropathy with conduction block associated with
            SORD mutation in three siblings
  JOURNAL   Acta Neurol Belg 124 (1), 343-347 (2024)
   PUBMED   37418112
  REMARK    GeneRIF: Hereditary polyneuropathy with conduction block associated
            with SORD mutation in three siblings.
REFERENCE   2  (bases 1 to 4818)
  AUTHORS   Li,L., Xie,Y., Zeng,S., Li,X., Lin,Z., Huang,S., Zhao,H., Cao,W.,
            Liu,L., Liu,J., Rong,P. and Zhang,R.
  TITLE     Expanding the genetic and clinical spectrum of SORD-related
            peripheral neuropathy by reporting a novel variant c.210T>G and
            evidence of subclinical muscle involvement
  JOURNAL   J Peripher Nerv Syst 28 (4), 608-613 (2023)
   PUBMED   37584201
  REMARK    GeneRIF: Expanding the genetic and clinical spectrum of
            SORD-related peripheral neuropathy by reporting a novel variant
            c.210T>G and evidence of subclinical muscle involvement.
REFERENCE   3  (bases 1 to 4818)
  AUTHORS   El-Kabbani,O., Darmanin,C. and Chung,R.P.
  TITLE     Sorbitol dehydrogenase: structure, function and ligand design
  JOURNAL   Curr Med Chem 11 (4), 465-476 (2004)
   PUBMED   14965227
  REMARK    GeneRIF: Sorbitol dehydrogenase (SDH), a member of the medium-chain
            dehydrogenase/reductase protein family and the second enzyme of the
            polyol pathway of glucose metabolism, converts sorbitol to fructose
            strictly using NAD(+) as coenzyme.
            Review article
REFERENCE   4  (bases 1 to 4818)
  AUTHORS   Pauly,T.A., Ekstrom,J.L., Beebe,D.A., Chrunyk,B., Cunningham,D.,
            Griffor,M., Kamath,A., Lee,S.E., Madura,R., Mcguire,D., Subashi,T.,
            Wasilko,D., Watts,P., Mylari,B.L., Oates,P.J., Adams,P.D. and
            Rath,V.L.
  TITLE     X-ray crystallographic and kinetic studies of human sorbitol
            dehydrogenase
  JOURNAL   Structure 11 (9), 1071-1085 (2003)
   PUBMED   12962626
REFERENCE   5  (bases 1 to 4818)
  AUTHORS   Darmanin,C., Iwata,T., Carper,D.A., Sparrow,L.G., Chung,R.P. and
            El-Kabbani,O.
  TITLE     Expression, purification and preliminary crystallographic analysis
            of human sorbitol dehydrogenase
  JOURNAL   Acta Crystallogr D Biol Crystallogr 59 (Pt 3), 558-560 (2003)
   PUBMED   12595725
  REMARK    GeneRIF: crystals of sorbitol dehydrogenase belong to the
            monoclinic C2 space group, with unit-cell parameters a = 145.9, b =
            52.3, c = 169.0 A, beta = 101.8 degrees
REFERENCE   6  (bases 1 to 4818)
  AUTHORS   Carr,I.M., Whitehouse,A., Coletta,P.L. and Markham,A.F.
  TITLE     Structural and evolutionary characterization of the human sorbitol
            dehydrogenase gene duplication
  JOURNAL   Mamm Genome 9 (12), 1042-1048 (1998)
   PUBMED   9880675
REFERENCE   7  (bases 1 to 4818)
  AUTHORS   Carr,I.M., Markham,A.F. and Coletta,P.L.
  TITLE     Identification and characterisation of a sequence related to human
            sorbitol dehydrogenase
  JOURNAL   Eur J Biochem 245 (3), 760-767 (1997)
   PUBMED   9183016
REFERENCE   8  (bases 1 to 4818)
  AUTHORS   Carr,I.M. and Markham,A.F.
  TITLE     Molecular genetic analysis of the human sorbitol dehydrogenase gene
  JOURNAL   Mamm Genome 6 (9), 645-652 (1995)
   PUBMED   8535074
REFERENCE   9  (bases 1 to 4818)
  AUTHORS   Iwata,T., Popescu,N.C., Zimonjic,D.B., Karlsson,C., Hoog,J.O.,
            Vaca,G., Rodriguez,I.R. and Carper,D.
  TITLE     Structural organization of the human sorbitol dehydrogenase gene
            (SORD)
  JOURNAL   Genomics 26 (1), 55-62 (1995)
   PUBMED   7782086
REFERENCE   10 (bases 1 to 4818)
  AUTHORS   Lee,F.K., Cheung,M.C. and Chung,S.
  TITLE     The human sorbitol dehydrogenase gene: cDNA cloning, sequence
            determination, and mapping by fluorescence in situ hybridization
  JOURNAL   Genomics 21 (2), 354-358 (1994)
   PUBMED   8088829
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U07361.1, BI258813.1, BC021085.2, DA530494.1 and AC091117.5.
            
            On Nov 23, 2018 this sequence version replaced NM_003104.5.
            
            Summary: Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the
            interconversion of polyols and their corresponding ketoses, and
            together with aldose reductase (ALDR1; MIM 103880), makes up the
            sorbitol pathway that is believed to play an important role in the
            development of diabetic complications (summarized by Carr and
            Markham, 1995 [PubMed 8535074]). The first reaction of the pathway
            (also called the polyol pathway) is the reduction of glucose to
            sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes
            the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM,
            Jul 2010].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            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 :: SRR1660803.10961.1,
                                           SRR1660805.25593.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267814.14/ ENSP00000267814.9
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-894               U07361.1           53-946
            895-1105            BI258813.1         167-377
            1106-2474           BC021085.2         1147-2515
            2475-2722           DA530494.1         361-608
            2723-4818           AC091117.5         125758-127853
FEATURES             Location/Qualifiers
     source          1..4818
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..4818
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /note="sorbitol dehydrogenase"
                     /db_xref="GeneID:6652"
                     /db_xref="HGNC:HGNC:11184"
                     /db_xref="MIM:182500"
     exon            1..155
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..1163
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /EC_number="1.1.1.14"
                     /EC_number="1.1.1.4"
                     /EC_number="1.1.1.9"
                     /EC_number="1.1.1.56"
                     /note="L-iditol 2-dehydrogenase; epididymis secretory
                     sperm binding protein Li 95n; polyol dehydrogenase;
                     ribitol dehydrogenase; xylitol dehydrogenase;
                     (R,R)-butanediol dehydrogenase"
                     /codon_start=1
                     /product="sorbitol dehydrogenase"
                     /protein_id="NP_003095.2"
                     /db_xref="CCDS:CCDS10116.1"
                     /db_xref="GeneID:6652"
                     /db_xref="HGNC:HGNC:11184"
                     /db_xref="MIM:182500"
                     /translation="MAAAAKPNNLSLVVHGPGDLRLENYPIPEPGPNEVLLRMHSVGI
                     CGSDVHYWEYGRIGNFIVKKPMVLGHEASGTVEKVGSSVKHLKPGDRVAIEPGAPREN
                     DEFCKMGRYNLSPSIFFCATPPDDGNLCRFYKHNAAFCYKLPDNVTFEEGALIEPLSV
                     GIHACRRGGVTLGHKVLVCGAGPIGMVTLLVAKAMGAAQVVVTDLSATRLSKAKEIGA
                     DLVLQISKESPQEIARKVEGQLGCKPEVTIECTGAEASIQAGIYATRSGGNLVLVGLG
                     SEMTTVPLLHAAIREVDIKGVFRYCNTWPVAISMLASKSVNVKPLVTHRFPLEKALEA
                     FETFKKGLGLKIMLKCDPSDQNP"
     exon            156..189
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     exon            190..354
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     exon            355..514
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     exon            515..633
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     exon            634..699
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     exon            700..875
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     exon            876..997
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     exon            998..4818
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2450..2455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /note="hexamer: AATAAA"
     polyA_site      2474
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /note="major polyA site"
     regulatory      4787..4792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
                     /note="hexamer: AATAAA"
     polyA_site      4818
                     /gene="SORD"
                     /gene_synonym="HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD;
                     XDH"
ORIGIN      
        1 agtgccctgg accctcggct gggtagcgcc accagagcga ccaaacgtcc cgcgccttcc
       61 aggccgcact ccagagccaa aagagctcca tggcggcggc ggccaagccc aacaaccttt
      121 ccctggtggt gcacggaccg ggggacttgc gcctggagaa ctatcctatc cctgaaccag
      181 gcccaaatga ggtcttgctg aggatgcatt ctgttggaat ctgtggctca gatgtccact
      241 actgggagta tggtcgaatt gggaatttta ttgtgaaaaa gcccatggtg ctgggacatg
      301 aagcttcggg aacagtcgaa aaagtgggat catcggtaaa gcacctaaaa ccaggtgatc
      361 gtgttgccat cgagcctggt gctccccgag aaaatgatga attctgcaag atgggccgat
      421 acaatctgtc accttccatc ttcttctgtg ccacgccccc cgatgacggg aacctctgcc
      481 ggttctataa gcacaatgca gccttttgtt acaagcttcc tgacaatgtc acctttgagg
      541 aaggcgccct gatcgagcca ctttctgtgg ggatccatgc ctgcaggaga ggcggagtta
      601 ccctgggaca caaggtcctt gtgtgtggag ctgggccaat cgggatggtc actttgctcg
      661 tggccaaagc aatgggagca gctcaagtag tggtgactga tctgtctgct acccgattgt
      721 ccaaagccaa ggagattggg gctgatttag tcctccagat ctccaaggag agccctcagg
      781 aaatcgccag gaaagtagaa ggtcagctgg ggtgcaagcc ggaagtcacc atcgagtgca
      841 cgggggcaga ggcctccatc caggcgggca tctacgccac tcgctctggt gggaacctcg
      901 tgcttgtggg gctgggctct gagatgacca ccgtacccct actgcatgca gccatccggg
      961 aggtggatat caagggcgtg tttcgatact gcaacacgtg gccagtggcg atttcgatgc
     1021 ttgcgtccaa gtctgtgaat gtaaaacccc tcgtcaccca taggtttcct ctggagaaag
     1081 ctctggaggc ctttgaaaca tttaaaaagg gattggggtt gaaaatcatg ctcaagtgtg
     1141 accccagtga ccagaatccc tgatgttaat gggctctgcc ctcatcccca cagtcttggg
     1201 atctcagggc acaatggctg gacatgggtg ggctctgatg cagaactttc tcttttgaat
     1261 gttaagaata actaatacaa ttcattgtga acagaagtcc ttaagcagag gaattggtgt
     1321 gccttaaaga tacaatctgg gatagtttgg gggaacttgt agccagaatg ccctgttcat
     1381 gctgagcaaa gttcagcaag tagagcagag tttggcaggc aggtgccagg aactcccctt
     1441 cttcctggag tgccttcatt gaggaaggaa atctggccct tgggtttcct ggttccactg
     1501 ctactgaccc agaggggaat gagggctgag ttatgaaaag ataacttcat gaagacttaa
     1561 ctggcccaga agctgatttt catgaaaatc tgccactcag ggtctgggat gaaggcttgt
     1621 cagcacttcc agtttagaac gcaatgtttc tagagacata ttggctgttt gttttgatga
     1681 taaaaggaga ataagaaaag gcatcacttt cctggatcca ggataatttt taaaccaatc
     1741 aaatgaaaaa aacaaacaaa caaaaaagga aatgtcatgt gaggttaaac cagtttgcat
     1801 tcccctaatg tggaaaaagt aagaggacta ctcagcactg tttgaagatt gcctcttcta
     1861 cagcttctga gaattgtgtt atttcacttg ccaagtgaag gaccccctcc ccaacatgcc
     1921 ccagcccacc cctaagcatg gtcccttgtc accaggcaac caggaaactg ctacttgtgg
     1981 acctcaccag agaccaggag ggtttggtta gctcacagga cttcccccac cccagaagat
     2041 tagcatccca tactagactc atactcaact caactaggct catactcaat tgatggttat
     2101 tagacaattc catttctttc tggttattat aaacagaaaa tctttcctct tctcattacc
     2161 agtaaaggct cttggtatct ttctgttgga atgatttcta tgaacttgtc ttattttaat
     2221 ggtgggtttt ttttctggta agatttagac ctaaatcgca tcatgccaac ttgtgacttt
     2281 gagactattc atcaagaatg aggatatagt agccatgaca tagcttgagc tatagccttt
     2341 aattccttac tttggctatg ggtggagggt gagtttgaag aggttctgat tttcttgtaa
     2401 cctgggaaag ccatgacctt gtgcccgatt ctttcagatt gctttgggta ataaatattg
     2461 gtggtggtat ctgactcatg ctgctgttta tggtcctgtt tagtggggaa tggactcagg
     2521 ttacccattt cccagaggga aggatcccag gatttttgaa ggttacatat tttctgtacc
     2581 aaatataatt tcattgacat gaattatctc taatcctcat gacaagccac atacacaatc
     2641 attttgtaga taaagaagat ataaatgcca gaggagacct taagattgtc ttacaacaca
     2701 acccttcagt taacgagaga ggaaattgag gctcagattg gggaagtgac ttggcaaatc
     2761 acacagtggg ttagtcaatg gcccaggatt agacagaacc caggaatcct gacatcaaat
     2821 cctttacaac atgctgcctc tcataggcct gaggtgtcca gtcctagagg acaaatgatg
     2881 ctccccatgc caccaccccc accaagcagc tcctactgat gagaagatgc actaagcagt
     2941 cttggtggaa acatcttcct cacgccctgt gccccctttc aggtgcccag agaaggagct
     3001 ccagtgtctg cttcagccag ggctttaaga gagaaggaag ctgggagtga ggggcagagg
     3061 ctctaccaga gaatgtctgc tggtgtcttg gaggcacttc ctgcagccta tgcatgcctc
     3121 gtgaagccat ttcactgctg ccccttcatc ctcctcctcc ctgagcccta ggtagaagtc
     3181 agtgtgtgga ggaggccacc cagagatgac cctgaccagg ccccaccgcc tgtagccaga
     3241 cccagcctct gtcccagctg gctgctaatt tctgagcatt tcttccctgt tatttggcct
     3301 ctgtaccttg aacctaggtt gacatcatga gcagaggaca gttcttagga aaggcaaata
     3361 tcccataaat cctatttgcc tctctttctc ctaacctctg gctccaccaa ctccccaaca
     3421 ggcctcctgc acacacaata ggagtcagga gggaggaggc aggactgtgc tacacaaggg
     3481 agactgggtg gggaagatgt cagagaacca gtgactgagt gcagaggtga cttcacacca
     3541 gcatctgctg tagccagagg tgggctgcaa gagggaatta gaggagccaa catgtcctct
     3601 ttctccttta gggtccatgg agcagtccgc tgcttccagg ttgcctgtgg ggtccttccc
     3661 agctctccgc cctgacacgt cttcactccc tagcactcgt ggagctgact gggtggggac
     3721 ctcagtgttg actgaaagcg tgaatcaagt gccaggcact ggtgacagag cacacagagg
     3781 ctgctgggcc tcccaaggtc ggggagcttg tggggaattc acattcttgg ttccgggact
     3841 gattcactga gtcaatcaat attgattgag cacttagttg gttgtggtgg tggtaggaat
     3901 gaattcctgg gcttcctgca gcccctttcc atgaatctat acatatcaaa catgtgcatg
     3961 catttgtaaa cattaatggg agtgtacttt acttttttca ttttactcat aaacagacga
     4021 ggactttaaa aaaatcacaa ttattaaata attcccatta ctatacctga caaaactaat
     4081 aataatttca taatagctaa taccccgtca atccatgcca tattttccct catctaaaaa
     4141 acagaaaaaa ttactttttt ttcccccaaa gacagggtct tgatcagagc tcactgcaat
     4201 atcaaactcc tgggttcaag tgatcctcct gtctcagcct ctggagtagc tgggattata
     4261 ggcatgcacc accatgcctg gctacttttt gtagagaaaa aaatttaaaa aggtctcact
     4321 atgtggccca gagtgttctt gaattcctgg cctcaagcaa tcttcctgcc tcagtttccc
     4381 aaagcactga gattacaggc atgagccacc atgcccagcc aaaactttac ttttttacac
     4441 ttgcttttct ggaatcagga tctaaacata ttgcatgcgg ttgatatatt aagcctgttt
     4501 tattttttat tttttcttct ttcttaagcc tctttattat agttccccct acattttggt
     4561 tcacatgcca ctgttatgtt gaagaaactg ggtcctttgt cttctggata ccgttttaca
     4621 aacatacttg ttttcattta ataaatggct aaatttcttt ctatgtcaat aattatacac
     4681 atcattattt taaatcacca catcccattg tgtggataga ctatcattta taaagcaaat
     4741 tgcagtattt tgagtgtttg gatagtttac agagttttgc tctaataata aagttgcaat
     4801 gacaaccctt gttgcata
//
