LOCUS       NM_001292027            2693 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4),
            transcript variant 4, mRNA.
ACCESSION   NM_001292027
VERSION     NM_001292027.2
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 2693)
  AUTHORS   Idyahia,A., Redouan,S., Amalou,G., Charoute,H., Harmak,H.,
            Bonnet,C., Petit,C., Benrahma,H. and Barakat,A.
  TITLE     Exome sequencing reveals pathogenic mutations in the LARS2 and
            HSD17B4 genes associated with Perrault syndrome and D-bifunctional
            protein deficiency in Moroccan families
  JOURNAL   Mol Biol Rep 51 (1), 850 (2024)
   PUBMED   39052101
  REMARK    GeneRIF: Exome sequencing reveals pathogenic mutations in the LARS2
            and HSD17B4 genes associated with Perrault syndrome and
            D-bifunctional protein deficiency in Moroccan families.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2693)
  AUTHORS   Arai,N., Hattori,N., Yamashita,S., Liu,Y.Y., Ebata,T., Takeuchi,C.,
            Takeshima,H., Fujii,S., Kondo,H., Mukai,H. and Ushijima,T.
  TITLE     HSD17B4 methylation enhances glucose dependence of BT-474 breast
            cancer cells and increases lapatinib sensitivity
  JOURNAL   Breast Cancer Res Treat 201 (2), 317-328 (2023)
   PUBMED   37378696
  REMARK    GeneRIF: HSD17B4 methylation enhances glucose dependence of BT-474
            breast cancer cells and increases lapatinib sensitivity.
REFERENCE   3  (bases 1 to 2693)
  AUTHORS   Lee,S.A., Lee,J., Kim,K., Moon,H., Min,C., Moon,B., Kim,D.,
            Yang,S., Park,H., Lee,G., Park,R. and Park,D.
  TITLE     The Peroxisomal Localization of Hsd17b4 Is Regulated by Its
            Interaction with Phosphatidylserine
  JOURNAL   Mol Cells 44 (4), 214-222 (2021)
   PUBMED   33935042
  REMARK    GeneRIF: The Peroxisomal Localization of Hsd17b4 Is Regulated by
            Its Interaction with Phosphatidylserine.
REFERENCE   4  (bases 1 to 2693)
  AUTHORS   Savage,L., Adams,S.D., James,K., Chowdhury,S., Rajasekaran,S.,
            Prokop,J.W. and Bupp,C.
  TITLE     Rapid whole-genome sequencing identifies a homozygous novel
            variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein
            deficiency disorder diagnosis
  JOURNAL   Cold Spring Harb Mol Case Stud 6 (6), a005496 (2020)
   PUBMED   33115767
  REMARK    GeneRIF: Rapid whole-genome sequencing identifies a homozygous
            novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional
            protein deficiency disorder diagnosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2693)
  AUTHORS   Adamski,J., Normand,T., Leenders,F., Monte,D., Begue,A.,
            Stehelin,D., Jungblut,P.W. and de Launoit,Y.
  TITLE     Molecular cloning of a novel widely expressed human 80 kDa 17
            beta-hydroxysteroid dehydrogenase IV
  JOURNAL   Biochem J 311 (Pt 2) (Pt 2), 437-443 (1995)
   PUBMED   7487879
REFERENCE   6  (bases 1 to 2693)
  AUTHORS   Suzuki,Y., Shimozawa,N., Yajima,S., Tomatsu,S., Kondo,N.,
            Nakada,Y., Akaboshi,S., Lai,M., Tanabe,Y., Hashimoto,T. et al.
  TITLE     Novel subtype of peroxisomal acyl-CoA oxidase deficiency and
            bifunctional enzyme deficiency with detectable enzyme protein:
            identification by means of complementation analysis
  JOURNAL   Am J Hum Genet 54 (1), 36-43 (1994)
   PUBMED   8279468
REFERENCE   7  (bases 1 to 2693)
  AUTHORS   Newman,W.G., Friedman,T.B., Conway,G.S. and Demain,L.A.M.
  TITLE     Perrault Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25254289
REFERENCE   8  (bases 1 to 2693)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   9  (bases 1 to 2693)
  AUTHORS   Palosaari,P.M. and Hiltunen,J.K.
  TITLE     Peroxisomal bifunctional protein from rat liver is a trifunctional
            enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA
            dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities
  JOURNAL   J Biol Chem 265 (5), 2446-2449 (1990)
   PUBMED   2303409
REFERENCE   10 (bases 1 to 2693)
  AUTHORS   Watkins,P.A., Chen,W.W., Harris,C.J., Hoefler,G., Hoefler,S.,
            Blake,D.C. Jr., Balfe,A., Kelley,R.I., Moser,A.B., Beard,M.E. et
            al.
  TITLE     Peroxisomal bifunctional enzyme deficiency
  JOURNAL   J Clin Invest 83 (3), 771-777 (1989)
   PUBMED   2921319
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA508630.1, AK312449.1,
            AK298075.1 and BC003098.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001292027.1.
            
            Summary: The protein encoded by this gene is a bifunctional enzyme
            that is involved in the peroxisomal beta-oxidation pathway for
            fatty acids. It also acts as a catalyst for the formation of
            3-ketoacyl-CoA intermediates from both straight-chain and
            2-methyl-branched-chain fatty acids. Defects in this gene that
            affect the peroxisomal fatty acid beta-oxidation activity are a
            cause of D-bifunctional protein deficiency (DBPD). An apparent
            pseudogene of this gene is present on chromosome 8. Multiple
            alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, May
            2014].
            
            Transcript Variant: This variant (4) has an alternate splice site
            in the 5' region, which causes translation initiation at a
            downstream AUG start codon, compared to variant 1. The resulting
            isoform (4) has a shorter N-terminus, compared to isoform 1.
            
            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 :: SRR1803613.217736.1,
                                           SRR1803612.264406.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 DA508630.1         55-58
            5-191               AK312449.1         5-191
            192-1895            AK298075.1         308-2011
            1896-2693           BC003098.1         1819-2616
FEATURES             Location/Qualifiers
     source          1..2693
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.1"
     gene            1..2693
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="hydroxysteroid 17-beta dehydrogenase 4"
                     /db_xref="GeneID:3295"
                     /db_xref="HGNC:HGNC:5213"
                     /db_xref="MIM:601860"
     exon            1..137
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            138..191
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            192..256
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             217..2355
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /EC_number="4.2.1.107"
                     /EC_number="4.2.1.119"
                     /EC_number="1.1.1.n12"
                     /note="isoform 4 is encoded by transcript variant 4;
                     hydroxysteroid dehydrogenase 4; peroxisomal
                     multifunctional enzyme type 2; 17-beta-HSD IV;
                     17-beta-hydroxysteroid dehydrogenase 4; D-bifunctional
                     protein, peroxisomal; D-3-hydroxyacyl-CoA dehydratase;
                     3-alpha,7-alpha,
                     12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase;
                     beta-keto-reductase; beta-hydroxyacyl dehydrogenase;
                     17beta-estradiol dehydrogenase type IV; peroxisomal
                     multifunctional protein 2; short chain
                     dehydrogenase/reductase family 8C member 1; 17-beta-HSD 4;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="peroxisomal multifunctional enzyme type 2
                     isoform 4"
                     /protein_id="NP_001278956.1"
                     /db_xref="GeneID:3295"
                     /db_xref="HGNC:HGNC:5213"
                     /db_xref="MIM:601860"
                     /translation="MEKIISQCRFFVSMNDLGGDFKGVGKGSLAADKVVEEIRRRGGK
                     AVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIHRVHLRG
                     SFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAIEGRK
                     SNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLVLWLCHESCEENGGLFEVGAG
                     WIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFENASKPQSIQESTGSIIEVLS
                     KIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALGVGASIKDP
                     KDLKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKP
                     LPRAGKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRT
                     SDKVKVAVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILH
                     GLCTFGFSARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTEMWKEGNRIHFQTKV
                     QETGDIVISNAYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRLKDIGPEVVKKVNA
                     VFEWHITKGGNIGAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVLGKLDPQ
                     KAFFSGRLKARGNIMLSQKLQMILKDYAKL"
     exon            257..364
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            365..424
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            425..446
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            447..493
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            494..578
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            579..766
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            767..858
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            859..883
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            884..1012
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1116
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1353
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1405
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1477
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1581
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1582..1647
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1717
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1718..1824
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1825..1911
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..1998
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1999..2137
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            2138..2265
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            2266..2693
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2597..2602
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="hexamer: AATAAA"
     polyA_site      2615
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="major polyA site"
     regulatory      2672..2677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="hexamer: AATAAA"
     polyA_site      2693
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="major polyA site"
ORIGIN      
        1 attccccgcc tcctcctgtc ccgcagtcgg cgtccagcgg ctctgcttgt tcgtgtgtgt
       61 gtcgttgcag gccttattca tgggctcacc gctgaggttc gacgggcggg tggtactggt
      121 caccggcgcg ggggcaggat tgggccgagc ctatgccctg gcttttgcag aaagaggagc
      181 gttagttgtt gctttcaaaa tctatgcaat aaccctatgg agaagatcat ttcacaatgc
      241 agattctttg tttcaatgaa tgatttggga ggggacttca aaggagttgg taaaggctcc
      301 ttagctgctg ataaggttgt tgaagaaata agaaggagag gtggaaaagc agtggccaac
      361 tatgattcag tggaagaagg agagaaggtt gtgaagacag ccctggatgc ttttggaaga
      421 atagatgttg tggtcaacaa tgctggaatt ctgagggatc gttcctttgc taggataagt
      481 gatgaagact gggatataat ccacagagtt catttgcggg gttcattcca agtgacacgg
      541 gcagcatggg aacacatgaa gaaacagaag tatggaagga ttattatgac ttcatcagct
      601 tcaggaatat atggcaactt tggccaggcc aattatagtg ctgcaaagtt gggtcttctg
      661 ggccttgcaa attctcttgc aattgaaggc aggaaaagca acattcattg taacaccatt
      721 gctcctaatg cgggatcacg gatgactcag acagttatgc ctgaagatct tgtggaagcc
      781 ctgaagccag agtatgtggc acctcttgtc ctttggcttt gtcacgagag ttgtgaggag
      841 aatggtggct tgtttgaggt tggagcagga tggattggaa aattacgctg ggagcggact
      901 cttggagcta ttgtaagaca aaagaatcac ccaatgactc ctgaggcagt caaggctaac
      961 tggaagaaga tctgtgactt tgagaatgcc agcaagcctc agagtatcca agaatcaact
     1021 ggcagtataa ttgaagttct gagtaaaata gattcagaag gaggagtttc agcaaatcat
     1081 actagtcgtg caacgtctac agcaacatca ggatttgctg gagctattgg ccagaaactc
     1141 cctccatttt cttatgctta tacggaactg gaagctatta tgtatgccct tggagtggga
     1201 gcgtcaatca aggatccaaa agatttgaaa tttatttatg aaggaagttc tgatttctcc
     1261 tgtttgccca ccttcggagt tatcataggt cagaaatcta tgatgggtgg aggattagca
     1321 gaaattcctg gactttcaat caactttgca aaggttcttc atggagagca gtacttagag
     1381 ttatataaac cacttcccag agcaggaaaa ttaaaatgtg aagcagttgt tgctgatgtc
     1441 ctagataaag gatccggtgt agtgattatt atggatgtct attcttattc tgagaaggaa
     1501 cttatatgcc acaatcagtt ctctctcttt cttgttggct ctggaggctt tggtggaaaa
     1561 cggacatcag acaaagtcaa ggtagctgta gccataccta atagacctcc tgatgctgta
     1621 cttacagata ccacctctct taatcaggct gctttgtacc gcctcagtgg agactggaat
     1681 cccttacaca ttgatcctaa ctttgctagt ctagcaggtt ttgacaagcc catattacat
     1741 ggattatgta catttggatt ttctgccagg cgtgtgttac agcagtttgc agataatgat
     1801 gtgtcaagat tcaaggcaat taaggctcgt tttgcaaaac cagtatatcc aggacaaact
     1861 ctacaaactg agatgtggaa ggaaggaaac agaattcatt ttcaaaccaa ggtccaagaa
     1921 actggagaca ttgtcatttc aaatgcatat gtggatcttg caccaacatc tggtacttca
     1981 gctaagacac cctctgaggg cgggaagctt cagagtacct ttgtatttga ggaaatagga
     2041 cgccgcctaa aggatattgg gcctgaggtg gtgaagaaag taaatgctgt atttgagtgg
     2101 catataacca aaggcggaaa tattggggct aagtggacta ttgacctgaa aagtggttct
     2161 ggaaaagtgt accaaggccc tgcaaaaggt gctgctgata caacaatcat actttcagat
     2221 gaagatttca tggaggtggt cctgggcaag cttgaccctc agaaggcatt ctttagtggc
     2281 aggctgaagg ccagagggaa catcatgctg agccagaaac ttcagatgat tcttaaagac
     2341 tacgccaagc tctgaagggc acactacact attaataaaa atggaatcat taaatactct
     2401 cttcacccaa atatgcttga ttattctgca aaagtgatta gaactaagat gcaggggaaa
     2461 ttgcttaaca ttttcagata tcagataact gcagattttc attttctact aatttttcat
     2521 gtatcattat ttttacaagg aactatatat aagctagcac ataattatcc ttctgttctt
     2581 agatctgtat cttcataata aaaaattttg cccaagtcct gtttccttag aatttgtgat
     2641 agcattgata agttgaaagg aaaattaaat caataaaggc ctttgatacc ttt
//
