LOCUS       NM_004493                954 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 10 (HSD17B10),
            transcript variant 1, mRNA.
ACCESSION   NM_004493
VERSION     NM_004493.3
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 954)
  AUTHORS   Ji,W., Tian,G., Zhang,X., Wang,Y., Yang,Y., Zhou,Z. and Guo,J.
  TITLE     [Clinical analysis and genetic diagnosis of three children with
            Isoleucine metabolic disorders due to variants of HSD17B10 and
            ACAT1 genes]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (5), 540-545 (2024)
   PUBMED   38684297
  REMARK    GeneRIF: [Clinical analysis and genetic diagnosis of three children
            with Isoleucine metabolic disorders due to variants of HSD17B10 and
            ACAT1 genes].
REFERENCE   2  (bases 1 to 954)
  AUTHORS   He,X.Y., Frackowiak,J., Dobkin,C., Brown,W.T. and Yang,S.Y.
  TITLE     Involvement of Type 10 17beta-Hydroxysteroid Dehydrogenase in the
            Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease
  JOURNAL   Int J Mol Sci 24 (24), 17604 (2023)
   PUBMED   38139430
  REMARK    GeneRIF: Involvement of Type 10 17beta-Hydroxysteroid Dehydrogenase
            in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's
            Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 954)
  AUTHORS   He,X.Y., Dobkin,C., Brown,W.T. and Yang,S.Y.
  TITLE     Infantile Neurodegeneration Results from Mutants of
            17beta-Hydroxysteroid Dehydrogenase Type 10 Rather Than
            Abeta-Binding Alcohol Dehydrogenase
  JOURNAL   Int J Mol Sci 24 (10), 8487 (2023)
   PUBMED   37239833
  REMARK    GeneRIF: Infantile Neurodegeneration Results from Mutants of
            17beta-Hydroxysteroid Dehydrogenase Type 10 Rather Than
            Abeta-Binding Alcohol Dehydrogenase.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 954)
  AUTHORS   Wohlfarter,Y., Eidelpes,R., Yu,R.D., Sailer,S., Koch,J., Karall,D.,
            Scholl-Burgi,S., Amberger,A., Hillen,H.S., Zschocke,J. and
            Keller,M.A.
  TITLE     ost in promiscuity? An evolutionary and biochemical evaluation of
            HSD10 function in cardiolipin metabolism
  JOURNAL   Cell Mol Life Sci 79 (11), 562 (2022)
   PUBMED   36271951
  REMARK    GeneRIF: ost in promiscuity? An evolutionary and biochemical
            evaluation of HSD10 function in cardiolipin metabolism.
            Erratum:[Cell Mol Life Sci. 2023 Jan 11;80(1):37. doi:
            10.1007/s00018-022-04682-8.. PMID: 36627535]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 954)
  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   6  (bases 1 to 954)
  AUTHORS   Yang,S.Y., He,X.Y., Isaacs,C., Dobkin,C., Miller,D. and Philipp,M.
  TITLE     Roles of 17beta-hydroxysteroid dehydrogenase type 10 in
            neurodegenerative disorders
  JOURNAL   J Steroid Biochem Mol Biol 143, 460-472 (2014)
   PUBMED   25007702
  REMARK    GeneRIF: Defects in this gene are a cause of 17beta-hydroxysteroid
            dehydrogenase type 10 (HSD10) deficiency. The encoded protein does
            not exhibit generalized alcohol dehydrogenase activity as was
            previously thought.
            Review article
REFERENCE   7  (bases 1 to 954)
  AUTHORS   Miller,A.P. and Willard,H.F.
  TITLE     Chromosomal basis of X chromosome inactivation: identification of a
            multigene domain in Xp11.21-p11.22 that escapes X inactivation
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8709-8714 (1998)
   PUBMED   9671743
REFERENCE   8  (bases 1 to 954)
  AUTHORS   He,X.Y., Schulz,H. and Yang,S.Y.
  TITLE     A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical
            to an amyloid beta-peptide-binding protein involved in Alzheimer's
            disease
  JOURNAL   J Biol Chem 273 (17), 10741-10746 (1998)
   PUBMED   9553139
REFERENCE   9  (bases 1 to 954)
  AUTHORS   Yan,S.D., Fu,J., Soto,C., Chen,X., Zhu,H., Al-Mohanna,F.,
            Collison,K., Zhu,A., Stern,E., Saido,T., Tohyama,M., Ogawa,S.,
            Roher,A. and Stern,D.
  TITLE     An intracellular protein that binds amyloid-beta peptide and
            mediates neurotoxicity in Alzheimer's disease
  JOURNAL   Nature 389 (6652), 689-695 (1997)
   PUBMED   9338779
REFERENCE   10 (bases 1 to 954)
  AUTHORS   Vredendaal,P.J., van den Berg,I.E., Malingre,H.E., Stroobants,A.K.,
            Olde Weghuis,D.E. and Berger,R.
  TITLE     Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and
            characterization of the coding sequence
  JOURNAL   Biochem Biophys Res Commun 223 (3), 718-723 (1996)
   PUBMED   8687463
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU132847.1 and BC000372.2.
            
            On Aug 31, 2019 this sequence version replaced NM_004493.2.
            
            Summary: This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II,
            a member of the short-chain dehydrogenase/reductase superfamily.
            The gene product is a mitochondrial protein that catalyzes the
            oxidation of a wide variety of fatty acids and steroids, and is a
            subunit of mitochondrial ribonuclease P, which is involved in tRNA
            maturation. The protein has been implicated in the development of
            Alzheimer disease, and mutations in the gene are the cause of
            17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency.
            Several alternatively spliced transcript variants have been
            identified, but the full-length nature of only two transcript
            variants has been determined. [provided by RefSeq, Aug 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC000372.2, AF069134.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000168216.11/
                                                  ENSP00000168216.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AU132847.1         7-16
            11-954              BC000372.2         1-944
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..954
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /note="hydroxysteroid 17-beta dehydrogenase 10"
                     /db_xref="GeneID:3028"
                     /db_xref="HGNC:HGNC:4800"
                     /db_xref="MIM:300256"
     exon            1..52
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..811
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /EC_number="1.1.1.35"
                     /EC_number="1.1.1.62"
                     /EC_number="1.1.1.178"
                     /EC_number="1.1.1.239"
                     /EC_number="1.1.1.53"
                     /EC_number="1.1.1.159"
                     /note="isoform 1 is encoded by transcript variant 1; short
                     chain L-3-hydroxyacyl-CoA dehydrogenase type 2;
                     amyloid-beta peptide binding alcohol dehydrogenase; short
                     chain type dehydrogenase/reductase XH98G2;
                     3-hydroxy-2-methylbutyryl-CoA dehydrogenase; AB-binding
                     alcohol dehydrogenase; mitochondrial ribonuclease P
                     protein 2; endoplasmic reticulum-associated amyloid
                     beta-peptide-binding protein; mitochondrial RNase P
                     subunit 2"
                     /codon_start=1
                     /product="3-hydroxyacyl-CoA dehydrogenase type-2 isoform
                     1"
                     /protein_id="NP_004484.1"
                     /db_xref="CCDS:CCDS14354.1"
                     /db_xref="GeneID:3028"
                     /db_xref="HGNC:HGNC:4800"
                     /db_xref="MIM:300256"
                     /translation="MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPN
                     SGGEAQAKKLGNNCVFAPADVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYN
                     LKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFE
                     GQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPLLTSLPEKVCNFLA
                     SQVPFPSRLGDPAEYAHLVQAIIENPFLNGEVIRLDGAIRMQP"
     exon            53..217
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /inference="alignment:Splign:2.1.0"
     exon            218..382
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /inference="alignment:Splign:2.1.0"
     exon            383..511
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /inference="alignment:Splign:2.1.0"
     exon            512..620
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /inference="alignment:Splign:2.1.0"
     exon            621..954
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      933..938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /note="hexamer: AATAAA"
     polyA_site      954
                     /gene="HSD17B10"
                     /gene_synonym="17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB;
                     HADH2; HCD2; HSD10MD; MHBD; MRPP2; MRX17; MRX31; MRXS10;
                     SCHAD; SDR5C1"
                     /note="major polyA site"
ORIGIN      
        1 atcccgtgga gtggccggcg acaagatggc agcagcgtgt cggagcgtga agggcctggt
       61 ggcggtaata accggaggag cctcgggcct gggcctggcc acggcggagc gacttgtggg
      121 gcagggagcc tctgctgtgc ttctggacct gcccaactcg ggtggggagg cccaagccaa
      181 gaagttagga aacaactgcg ttttcgcccc agccgacgtg acctctgaga aggatgtgca
      241 aacagctctg gctctagcaa aaggaaagtt tggccgtgtg gatgtagctg tcaactgtgc
      301 aggcatcgcg gtggctagca agacgtacaa cttaaagaag ggccagaccc ataccttgga
      361 agacttccag cgagttcttg atgtgaatct catgggcacc ttcaatgtga tccgcctggt
      421 ggctggtgag atgggccaga atgaaccaga ccagggaggc caacgtgggg tcatcatcaa
      481 cactgccagt gtggctgcct tcgagggtca ggttggacaa gctgcatact ctgcttccaa
      541 ggggggaata gtgggcatga cactgcccat tgctcgggat ctggctccca taggtatccg
      601 ggtgatgacc attgccccag gtctgtttgg caccccactg ctgaccagcc tcccagagaa
      661 agtgtgcaac ttcttggcca gccaagtgcc cttccctagc cgactgggtg accctgctga
      721 gtatgctcac ctcgtacagg ccatcatcga gaacccattc ctcaatggag aggtcatccg
      781 gctggatggg gccattcgta tgcagccttg aagggagaag gcagagaaaa cacacgctcc
      841 tctgcccttc ctttccctgg ggtactactc tccagcttgg gaggaagccc agtagccatt
      901 ttgtaactgc ctaccagtcg ccctctgtgc ctaataaagt ctctttttct caca
//
