LOCUS       NM_000414               2628 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4),
            transcript variant 2, mRNA.
ACCESSION   NM_000414
VERSION     NM_000414.4
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 2628)
  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 2628)
  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 2628)
  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 2628)
  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 2628)
  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 2628)
  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 2628)
  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 2628)
  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 2628)
  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 2628)
  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 AK312449.1 and BC003098.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000414.3.
            
            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 (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (2) has a distinct N-terminus and is shorter than 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 :: GQ901009.1, BC003098.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000510025.7/ ENSP00000424940.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-692               AK312449.1         1-692
            693-2628            BC003098.1         681-2616
FEATURES             Location/Qualifiers
     source          1..2628
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.1"
     gene            1..2628
                     /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"
     CDS             80..2290
                     /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 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_000405.1"
                     /db_xref="CCDS:CCDS4126.1"
                     /db_xref="GeneID:3295"
                     /db_xref="HGNC:HGNC:5213"
                     /db_xref="MIM:601860"
                     /translation="MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGD
                     FKGVGKGSLAADKVVEEIRRRGGKAVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGI
                     LRDRSFARISDEDWDIIHRVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFG
                     QANYSAAKLGLLGLANSLAIEGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYV
                     APLVLWLCHESCEENGGLFEVGAGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKI
                     CDFENASKPQSIQESTGSIIEVLSKIDSEGGVSANHTSRATSTATSGFAGAIGQKLPP
                     FSYAYTELEAIMYALGVGASIKDPKDLKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLA
                     EIPGLSINFAKVLHGEQYLELYKPLPRAGKLKCEAVVADVLDKGSGVVIIMDVYSYSE
                     KELICHNQFSLFLVGSGGFGGKRTSDKVKVAVAIPNRPPDAVLTDTTSLNQAALYRLS
                     GDWNPLHIDPNFASLAGFDKPILHGLCTFGFSARRVLQQFADNDVSRFKAIKARFAKP
                     VYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISNAYVDLAPTSGTSAKTPSEGGKLQS
                     TFVFEEIGRRLKDIGPEVVKKVNAVFEWHITKGGNIGAKWTIDLKSGSGKVYQGPAKG
                     AADTTIILSDEDFMEVVLGKLDPQKAFFSGRLKARGNIMLSQKLQMILKDYAKL"
     exon            138..191
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            192..299
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            300..359
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            360..381
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            382..428
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            429..513
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            514..701
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            702..793
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            794..818
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            819..947
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1051
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1288
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1340
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1412
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1516
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1517..1582
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1652
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1653..1759
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1760..1846
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1847..1933
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1934..2072
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2200
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     exon            2201..2628
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2532..2537
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="hexamer: AATAAA"
     polyA_site      2550
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="major polyA site"
     regulatory      2607..2612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="hexamer: AATAAA"
     polyA_site      2628
                     /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 gtgaatgatt tgggagggga cttcaaagga gttggtaaag gctccttagc
      241 tgctgataag gttgttgaag aaataagaag gagaggtgga aaagcagtgg ccaactatga
      301 ttcagtggaa gaaggagaga aggttgtgaa gacagccctg gatgcttttg gaagaataga
      361 tgttgtggtc aacaatgctg gaattctgag ggatcgttcc tttgctagga taagtgatga
      421 agactgggat ataatccaca gagttcattt gcggggttca ttccaagtga cacgggcagc
      481 atgggaacac atgaagaaac agaagtatgg aaggattatt atgacttcat cagcttcagg
      541 aatatatggc aactttggcc aggccaatta tagtgctgca aagttgggtc ttctgggcct
      601 tgcaaattct cttgcaattg aaggcaggaa aagcaacatt cattgtaaca ccattgctcc
      661 taatgcggga tcacggatga ctcagacagt tatgcctgaa gatcttgtgg aagccctgaa
      721 gccagagtat gtggcacctc ttgtcctttg gctttgtcac gagagttgtg aggagaatgg
      781 tggcttgttt gaggttggag caggatggat tggaaaatta cgctgggagc ggactcttgg
      841 agctattgta agacaaaaga atcacccaat gactcctgag gcagtcaagg ctaactggaa
      901 gaagatctgt gactttgaga atgccagcaa gcctcagagt atccaagaat caactggcag
      961 tataattgaa gttctgagta aaatagattc agaaggagga gtttcagcaa atcatactag
     1021 tcgtgcaacg tctacagcaa catcaggatt tgctggagct attggccaga aactccctcc
     1081 attttcttat gcttatacgg aactggaagc tattatgtat gcccttggag tgggagcgtc
     1141 aatcaaggat ccaaaagatt tgaaatttat ttatgaagga agttctgatt tctcctgttt
     1201 gcccaccttc ggagttatca taggtcagaa atctatgatg ggtggaggat tagcagaaat
     1261 tcctggactt tcaatcaact ttgcaaaggt tcttcatgga gagcagtact tagagttata
     1321 taaaccactt cccagagcag gaaaattaaa atgtgaagca gttgttgctg atgtcctaga
     1381 taaaggatcc ggtgtagtga ttattatgga tgtctattct tattctgaga aggaacttat
     1441 atgccacaat cagttctctc tctttcttgt tggctctgga ggctttggtg gaaaacggac
     1501 atcagacaaa gtcaaggtag ctgtagccat acctaataga cctcctgatg ctgtacttac
     1561 agataccacc tctcttaatc aggctgcttt gtaccgcctc agtggagact ggaatccctt
     1621 acacattgat cctaactttg ctagtctagc aggttttgac aagcccatat tacatggatt
     1681 atgtacattt ggattttctg ccaggcgtgt gttacagcag tttgcagata atgatgtgtc
     1741 aagattcaag gcaattaagg ctcgttttgc aaaaccagta tatccaggac aaactctaca
     1801 aactgagatg tggaaggaag gaaacagaat tcattttcaa accaaggtcc aagaaactgg
     1861 agacattgtc atttcaaatg catatgtgga tcttgcacca acatctggta cttcagctaa
     1921 gacaccctct gagggcggga agcttcagag tacctttgta tttgaggaaa taggacgccg
     1981 cctaaaggat attgggcctg aggtggtgaa gaaagtaaat gctgtatttg agtggcatat
     2041 aaccaaaggc ggaaatattg gggctaagtg gactattgac ctgaaaagtg gttctggaaa
     2101 agtgtaccaa ggccctgcaa aaggtgctgc tgatacaaca atcatacttt cagatgaaga
     2161 tttcatggag gtggtcctgg gcaagcttga ccctcagaag gcattcttta gtggcaggct
     2221 gaaggccaga gggaacatca tgctgagcca gaaacttcag atgattctta aagactacgc
     2281 caagctctga agggcacact acactattaa taaaaatgga atcattaaat actctcttca
     2341 cccaaatatg cttgattatt ctgcaaaagt gattagaact aagatgcagg ggaaattgct
     2401 taacattttc agatatcaga taactgcaga ttttcatttt ctactaattt ttcatgtatc
     2461 attattttta caaggaacta tatataagct agcacataat tatccttctg ttcttagatc
     2521 tgtatcttca taataaaaaa ttttgcccaa gtcctgtttc cttagaattt gtgatagcat
     2581 tgataagttg aaaggaaaat taaatcaata aaggcctttg ataccttt
//
