LOCUS       NM_002035               5143 bp    mRNA    linear   PRI 03-MAY-2024
DEFINITION  Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.
ACCESSION   NM_002035
VERSION     NM_002035.4
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 5143)
  AUTHORS   Pilz,R., Opalka,L., Majcher,A., Grimm,E., Van Maldergem,L.,
            Mihalceanu,S., Schakel,K., Enk,A., Aubin,F., Bursztejn,A.C.,
            Brischoux-Boucher,E., Fischer,J. and Sandhoff,R.
  TITLE     Formation of keto-type ceramides in palmoplantar keratoderma based
            on biallelic KDSR mutations in patients
  JOURNAL   Hum Mol Genet 31 (7), 1105-1114 (2022)
   PUBMED   34686882
  REMARK    GeneRIF: Formation of keto-type ceramides in palmoplantar
            keratoderma based on biallelic KDSR mutations in patients.
REFERENCE   2  (bases 1 to 5143)
  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   3  (bases 1 to 5143)
  AUTHORS   Bariana,T.K., Labarque,V., Heremans,J., Thys,C., De Reys,M.,
            Greene,D., Jenkins,B., Grassi,L., Seyres,D., Burden,F.,
            Whitehorn,D., Shamardina,O., Papadia,S., Gomez,K., BioResource,N.,
            Van Geet,C., Koulman,A., Ouwehand,W.H., Ghevaert,C., Frontini,M.,
            Turro,E. and Freson,K.
  TITLE     Sphingolipid dysregulation due to lack of functional KDSR impairs
            proplatelet formation causing thrombocytopenia
  JOURNAL   Haematologica 104 (5), 1036-1045 (2019)
   PUBMED   30467204
  REMARK    GeneRIF: Depletion of kdsr causes thrombocytopenia due to impaired
            proplatelet formation and sphingolipid dysregulation.
REFERENCE   4  (bases 1 to 5143)
  AUTHORS   Boyden,L.M., Vincent,N.G., Zhou,J., Hu,R., Craiglow,B.G.,
            Bayliss,S.J., Rosman,I.S., Lucky,A.W., Diaz,L.A., Goldsmith,L.A.,
            Paller,A.S., Lifton,R.P., Baserga,S.J. and Choate,K.A.
  TITLE     Mutations in KDSR Cause Recessive Progressive Symmetric
            Erythrokeratoderma
  JOURNAL   Am J Hum Genet 100 (6), 978-984 (2017)
   PUBMED   28575652
  REMARK    GeneRIF: mutations in KDSR (3-ketodihydrosphingosine reductase),
            encoding an enzyme in the ceramide synthesis pathway, lead to a
            previously undescribed recessive Mendelian disorder in the
            progressive symmetric erythrokeratoderma spectrum.
REFERENCE   5  (bases 1 to 5143)
  AUTHORS   Peloso,G.M., Demissie,S., Collins,D., Mirel,D.B., Gabriel,S.B.,
            Cupples,L.A., Robins,S.J., Schaefer,E.J. and Brousseau,M.E.
  TITLE     Common genetic variation in multiple metabolic pathways influences
            susceptibility to low HDL-cholesterol and coronary heart disease
  JOURNAL   J Lipid Res 51 (12), 3524-3532 (2010)
   PUBMED   20855565
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 5143)
  AUTHORS   Fukatsu,K., Bannai,H., Zhang,S., Nakamura,H., Inoue,T. and
            Mikoshiba,K.
  TITLE     Lateral diffusion of inositol 1,4,5-trisphosphate receptor type 1
            is regulated by actin filaments and 4.1N in neuronal dendrites
  JOURNAL   J Biol Chem 279 (47), 48976-48982 (2004)
   PUBMED   15364918
REFERENCE   7  (bases 1 to 5143)
  AUTHORS   Kihara,A. and Igarashi,Y.
  TITLE     FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an
            active site that faces the cytosolic side of the endoplasmic
            reticulum membrane
  JOURNAL   J Biol Chem 279 (47), 49243-49250 (2004)
   PUBMED   15328338
  REMARK    GeneRIF: FVT-1 is a mammalian 3-ketodihydrosphingosine reductase
            with an active site that faces the cytosolic side of the
            endoplasmic reticulum membrane
REFERENCE   8  (bases 1 to 5143)
  AUTHORS   Wang,J., Blakey,G.L., Zhang,L., Bane,B., Torbenson,M. and Li,S.
  TITLE     Uterine tumor resembling ovarian sex cord tumor: report of a case
            with t(X;6)(p22.3;q23.1) and t(4;18)(q21.1;q21.3)
  JOURNAL   Diagn Mol Pathol 12 (3), 174-180 (2003)
   PUBMED   12960700
REFERENCE   9  (bases 1 to 5143)
  AUTHORS   Nacheva,E., Dyer,M.J., Metivier,C., Jadayel,D., Stranks,G.,
            Morilla,R., Heward,J.M., Holloway,T., O'Connor,S., Bevan,P.C. et
            al.
  TITLE     B-cell non-Hodgkin's lymphoma cell line (Karpas 1106) with complex
            translocation involving 18q21.3 but lacking BCL2 rearrangement and
            expression
  JOURNAL   Blood 84 (10), 3422-3428 (1994)
   PUBMED   7949096
REFERENCE   10 (bases 1 to 5143)
  AUTHORS   Rimokh,R., Gadoux,M., Bertheas,M.F., Berger,F., Garoscio,M.,
            Deleage,G., Germain,D. and Magaud,J.P.
  TITLE     FVT-1, a novel human transcription unit affected by variant
            translocation t(2;18)(p11;q21) of follicular lymphoma
  JOURNAL   Blood 81 (1), 136-142 (1993)
   PUBMED   8417785
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X63657.1 and AC021803.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 9, 2018 this sequence version replaced NM_002035.3.
            
            Summary: The protein encoded by this gene catalyzes the reduction
            of 3-ketodihydrosphingosine to dihydrosphingosine. The putative
            active site residues of the encoded protein are found on the
            cytosolic side of the endoplasmic reticulum membrane. A chromosomal
            rearrangement involving this gene is a cause of follicular
            lymphoma, also known as type II chronic lymphatic leukemia. The
            mutation of a conserved residue in the bovine ortholog causes
            spinal muscular atrophy. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: AK025120.1, SRR1803612.177280.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645214.2/ ENSP00000494352.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1534              X63657.1           20-1553
            1535-5143           AC021803.8         26191-29799
FEATURES             Location/Qualifiers
     source          1..5143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.33"
     gene            1..5143
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /note="3-ketodihydrosphingosine reductase"
                     /db_xref="GeneID:2531"
                     /db_xref="HGNC:HGNC:4021"
                     /db_xref="MIM:136440"
     exon            1..196
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1087
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /EC_number="1.1.1.102"
                     /note="follicular lymphoma variant translocation 1; KDS
                     reductase; 3-dehydrosphinganine reductase; FVT-1;
                     follicular variant translocation protein 1; short chain
                     dehydrogenase/reductase family 35C member 1"
                     /codon_start=1
                     /product="3-ketodihydrosphingosine reductase"
                     /protein_id="NP_002026.1"
                     /db_xref="CCDS:CCDS11982.1"
                     /db_xref="GeneID:2531"
                     /db_xref="HGNC:HGNC:4021"
                     /db_xref="MIM:136440"
                     /translation="MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGI
                     GKCIAIECYKQGAFITLVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVE
                     NVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTM
                     KERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPD
                     TDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSA
                     LTCGMAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKSENADKTA"
     exon            197..286
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     exon            287..343
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     exon            344..409
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     exon            410..505
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     exon            506..697
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     exon            698..781
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     exon            782..865
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     exon            866..967
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     exon            968..5143
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2118..2123
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /note="hexamer: ATTAAA"
     regulatory      2127..2132
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /note="hexamer: AATGAA"
     polyA_site      2136
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /note="major polyA site"
     polyA_site      2143
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /note="major polyA site"
     regulatory      5110..5115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
                     /note="hexamer: AATAAA"
     polyA_site      5131
                     /gene="KDSR"
                     /gene_synonym="DHSR; EKVP4; FVT1; SDR35C1"
ORIGIN      
        1 gtgattctcg cctcgccgca gcccagccct gcgcgccttg cccggcggcc cccgcccggc
       61 cgctccgggc ccctggcccc gcggagcgat gctgctgctg gctgccgcct tcctcgtggc
      121 cttcgtgctg ctgctgtaca tggtgtctcc gctcatcagc cccaagcccc tcgccctgcc
      181 cggggcgcat gtggtggtta caggaggttc cagtggcatc gggaagtgca ttgctatcga
      241 gtgctataaa caaggagctt ttataactct ggttgcacga aatgaggata agctgctgca
      301 ggcaaagaaa gaaattgaaa tgcactctat taatgacaaa caggtggtgc tttgcatatc
      361 agttgatgta tctcaagact ataaccaagt agagaatgtc ataaaacaag cacaggagaa
      421 actgggtcca gtggacatgc tggtaaattg tgcaggaatg gcagtgtcag gaaaatttga
      481 agatcttgaa gttagtacct ttgaaaggtt aatgagcatc aattacctgg gcagcgtgta
      541 ccccagccgg gccgtgatca ccaccatgaa ggagcgccgg gtgggcagga tcgtgtttgt
      601 gtcctcccag gcaggacagt tgggattatt cggtttcaca gcctactctg catccaagtt
      661 tgccataagg ggattggcag aagctttgca gatggaggtg aagccatata atgtctacat
      721 cacagttgct tacccaccag acacagacac acctggcttt gccgaagaaa acagaacaaa
      781 gcctttggag actcgactta tttcagagac cacatctgtg tgcaaaccag aacaggtggc
      841 caaacaaatt gttaaagatg ccatacaagg aaatttcaac agttcccttg gctcagatgg
      901 gtacatgctc tcggccctga cctgtgggat ggctccagta acttctatta ctgaggggct
      961 ccagcaggtg gtcaccatgg gccttttccg cactattgct ttgttttacc ttggaagttt
     1021 tgacagcata gttcgtcgct gcatgatgca gagagaaaaa tctgaaaatg cagacaaaac
     1081 tgcctaatct tcttacccct tggaagaaga ctgtttccaa ataatttgaa cagcttgctg
     1141 ctaaatggga cccaattttt ggcctataga cacttatgta ttgttttcga atacgtcaga
     1201 ttggaccagt gctcttcagg aatgtggctg caagcaaggg gctagaagtt cacctcctga
     1261 cagtattatt aatactatgc aaatatggaa taggagacca tttgattttc taggctttgt
     1321 ggtagagagg tgaaggtatg agaattaata gcgtgtgaac aaagtaaaga acaggattcc
     1381 agaatgatca ttaaatttgt ttctatttat tcttttttgc ccccctagag attaagtcca
     1441 gaaatgtact ttctggcaca taaagaaatc ttgaggactt tgtttaaacc ttccataaaa
     1501 aaacaatttt cggtttctcg ggttctctct ctctctctct ctgtctctct gtctctctgt
     1561 ctctctgtct ctctgtctct ctgtctctct ctctctctct ctttctttct ttgtgtattt
     1621 tattcaagat gagttggacc cattgccagt gagtctgaat gtcactgaca gccctgtgtt
     1681 gtgctcagga ctcactctgc tgctggtgga aactcatggc ttctctctct ctttgatccc
     1741 ataaagctac gagggggacg ggagagggca gtgcaatggg aagtaaagag atattttcca
     1801 gtaggaaaag caatgctttc ttgtctttag actcaaatgc ttagggaacg tttcatttct
     1861 cattcatggg gaaaggcagc ctccttaaat gttttctgaa gagcggtaaa atctagaagc
     1921 ttaagaattt acagttcctt caataaccat gatgacctga agttcaccta tcccatttta
     1981 gcatctactt gtttttccca tctcttcctt tccaattttg cttatactgc tgtaatattt
     2041 ttgtaaaaaa aaaaaaaaag gaaaaaaaag accagctaaa attttcgact tgacttttta
     2101 acttaactca tgaattaatt aaagcaaatg aaaaaattaa aaagtgtgac tttttctcgg
     2161 agcatatatg tagcttttag gaaaggctga tgatggtata aagtttgctc attaagaaaa
     2221 aaagacaagg ctgattttga agagagttgc ttttgaaata aaatgatcac ctgttcttta
     2281 tgtgactctc ccactgaacc tgcagacatt atttttatac cacatgctaa ggaagcccac
     2341 tcatctaact ctgtagccct ggaaaccctc ttggcccctg aatgttgttt ccaggttata
     2401 ggatctgtgt tcattagtgg attttgacag caagtgcctc tgatgagttt tagccaacat
     2461 tccccgttgc atcctgctca ttgttcacac tcctctgact tgaggagagc tgccttcacc
     2521 ttgatcttgt aacctgtctt ccttgcatat acggtagcac attccagatc acttcggtga
     2581 gaaaagacct ctgtttttga agaggaaact ttcttaaatt gtaaaataaa acttaaaaaa
     2641 cataaaaact ctatacaaaa attgaagacc taaaaattat agcatacctt ttttttgctc
     2701 ttgagttttt gaagctcttg actttaaatg acttaacttt ttaaaaaata agatgtttta
     2761 tggctttaac ccatgttttt attaagatct gagaatagca tattttaaac actgatagat
     2821 acagaagaaa ttattattta atatataaat tgcttggaat gatttcattg cagcttgtaa
     2881 ggatgggttg atgccagaat ggtttcataa atctttcagt cttacagagc caaagtttgc
     2941 agattatatc gagttgcgtt gtgcagctgc taaaatggaa tcatagcttt ttataatttg
     3001 cagaaaacaa ttgcattaat gtctggatgt ttctcagttt tattcttttc tcataaatgt
     3061 tcctcgaatg ttggcacctt ctactgctga tctatattag aatctagtcc aagaaagtgt
     3121 ctgatttaat aacattaaat agttatttca atatattttt tcaaattatc ctcatagaac
     3181 ctgttgcctc cagtgagatg gtaatctact acccgaataa atttaagagc acctgttgag
     3241 agcccctgtt ttgcggtaga agacaattgt ccctatccca atttccactg aaatatgaga
     3301 gcagatttgc agagaccatc atgtcagaga agaaatttcc ttgtcagaga tgttaaaggg
     3361 ctacagtccc ttagcaaaga aacttcgaaa tctaagttgg tttgtgtttt tctaaatttg
     3421 ataccgtaat tcatttggca gcaaaatctg acttgaactg atgtgagagt attgtacttt
     3481 atatttatgc tacttcattg tgacttaatt ttccctgaag aaatatccat ggatttgatt
     3541 ataggttttc ccttagatgc tgtggaggtg ttttgtaata ttcaaaatat gcccatattg
     3601 cctttttaaa accccaaaga ttatgaattc tgaaacacat ccagcccagc gggttttgga
     3661 taaggggttg taggcattta agcagcctca cataatgggc tgacttcatc caaaacatga
     3721 aaatattaca aggcaaattc tattttttat attttttggt tcaatgcttg aacaacttgt
     3781 ttttctgctg ggggaagaaa aaaagaacca accctgagtg tgattgttac ggaaactaat
     3841 gactttgttt ttaaaggatc acattgattc aacaccttct attggaccca gaagtgcgta
     3901 aatattacct atggtagtaa acgtttaatt atcattcagt ttaaatgttg gccttctgta
     3961 tgtagccaag aacagctcat tttgtgaatt tcagttttta agtggctgct ttttgatttg
     4021 gttgtattat tttattataa tgtatttgca agtatattaa aaaattaaca ttgagccata
     4081 aaaatcccca aatatgttca aggacttcat aattgaaaaa tatatagaaa acaatcctta
     4141 cttcttttta caaaaacaaa atcatgggaa ttattctttt ctatatattt agttataaat
     4201 ctttctctgg gccgggcgtg gtggctcacg ccagtaatcc cagcactttg ggaggctgag
     4261 acaggcgaat cacgaggtca ggagttcgag accagcctgg ccaacatggt gaaaccccgt
     4321 ctctactgaa aatacaaaaa attagctgga cacggtggca ggcgcctgtg tgtggcgggc
     4381 gccagctact caggaggctg aggcaggaga atcgcttgaa cccaggaggc agaggttgca
     4441 gtgagccaag attgcgccac tgcactccag cctaggtgac agtgcgagac tctgtctcaa
     4501 aaaaaaaaaa aaagaaaaaa aatctttatc tggatctgtt aaaccatata ttattgatca
     4561 ttgcaagtga aattttgaga gattgtttct agtatttagg tgatgaaaac atttggtaat
     4621 attgctttgg ttcaaagaat tttatgtctt tatctttcta gaagaaagca attatatata
     4681 tatttttgct aaattacata aacatttaat tacatcaggt tctaatttaa acatgtatta
     4741 ctcacttgag gccactttta aatattcata ctctttgaca taagatgctt tgtatatttc
     4801 tcatttcttt tagttcttag taagtcagct ttaaaaagta cctgccaacc agaaccttcc
     4861 atattctgga ctaaatcttg ctcttcggat tatacttcag tgcagtaact gtggatttgc
     4921 aattttgaag gggagatagt agctattata ttttacactt gcttgatgtg ataactctaa
     4981 agacttttta actgataaaa gcgcacatgg ctattttgat acacaaagtt gtgtttgcta
     5041 ctttagaagc ttttgtggca gaattgtaat ctaattttca taccttgtat ttctgaatca
     5101 caacaaaaaa ataaatgggg aacaagactt acagatttgc aaa
//
