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Protein

3-hydroxyacyl-CoA dehydrogenase type-2

Gene

HSD17B10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mitochondrial dehydrogenase that catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone (PubMed:9553139, PubMed:23042678, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Catalyzes the third step in the beta-oxidation of fatty acids (PubMed:9553139, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids (PubMed:12917011). Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids (PubMed:12917011). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426).9 Publications
In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N1-methylguanine and N1-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705).7 Publications

Catalytic activityi

(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+ = 2-methylacetoacetyl-CoA + NADH.1 Publication
Testosterone + NAD(P)+ = androst-4-ene-3,17-dione + NAD(P)H.2 Publications
(S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH.5 Publications

Kineticsi

Kcat is 458 min(-1) for DL-3-hydroxybutyryl-CoA (PubMed:28888424). Kcat is 706 min(-1) for allopregnanolone (PubMed:28888424).1 Publication
  1. KM=25.7 µM for acetoacetyl-CoA (in the presence of 0.2 mM NADH, at pH 7.0 and 25 degrees Celsius)1 Publication
  2. KM=85.2 µM for beta-hydroxybutyryl-CoA (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
  3. KM=41 µM for androsterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
  4. KM=5 µM for 5-alpha-pregnan-20-beta-ol-3-one (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
  5. KM=219 µM for isoursodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
  6. KM=36.4 µM for chenodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
  7. KM=1.7 µM for dehydrocorticosterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
  8. KM=30.6 µM for NADH (in the presence of acetoacetyl-CoA, at pH 7.0 and 25 degrees Celsius)1 Publication
  9. KM=42.3 µM for NAD (in the presence of beta-hydroxybutyryl-CoA, at pH 9.3 and 25 degrees Celsius)1 Publication
  10. KM=69 µM for for DL-3-hydroxybutyryl-CoA1 Publication
  11. KM=7.7 µM for for allopregnanolone1 Publication

    pH dependencei

    Optimum pH is 9.3 for the dehydrogenase reaction at 25 degrees Celsius, and 7.0 for the reductase reaction at 25 degrees Celsius.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei155Substrate1 Publication1
    Active sitei168Proton acceptor1 Publication1
    Binding sitei172NAD1 Publication1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi12 – 41NAD1 PublicationAdd BLAST30

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionOxidoreductase
    Biological processtRNA processing
    LigandNAD

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01071-MONOMER
    BRENDAi1.1.1.178 2681
    1.1.1.35 2681
    ReactomeiR-HSA-6785470 tRNA processing in the mitochondrion
    R-HSA-6787450 tRNA modification in the mitochondrion
    R-HSA-70895 Branched-chain amino acid catabolism
    R-HSA-8868766 rRNA processing in the mitochondrion
    SABIO-RKiQ99714

    Chemistry databases

    SwissLipidsiSLP:000000787

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    3-hydroxyacyl-CoA dehydrogenase type-2 (EC:1.1.1.355 Publications)
    Alternative name(s):
    17-beta-hydroxysteroid dehydrogenase 10 (EC:1.1.1.512 Publications)
    Short name:
    17-beta-HSD 10
    2-methyl-3-hydroxybutyryl-CoA dehydrogenase1 Publication
    Short name:
    MHBD1 Publication
    3-hydroxy-2-methylbutyryl-CoA dehydrogenase (EC:1.1.1.1781 Publication)
    3-hydroxyacyl-CoA dehydrogenase type II
    Endoplasmic reticulum-associated amyloid beta-peptide-binding protein
    Mitochondrial ribonuclease P protein 2
    Short name:
    Mitochondrial RNase P protein 2
    Short chain dehydrogenase/reductase family 5C member 1
    Short-chain type dehydrogenase/reductase XH98G2
    Type II HADH
    Gene namesi
    Name:HSD17B10
    Synonyms:ERAB, HADH2, MRPP2, SCHAD, SDR5C1, XH98G2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome X

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000072506.12
    HGNCiHGNC:4800 HSD17B10
    MIMi300256 gene
    neXtProtiNX_Q99714

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    HDS10 mitochondrial disease (HSD10MD)12 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis.
    See also OMIM:300438
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08004912V → L in HSD10MD; decreased dehydrogenase activity; decreased tRNA methylation; decreased mitochondrial tRNA 5'-end processing. 1 Publication1
    Natural variantiVAR_07886365V → A in HSD10MD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104886492EnsemblClinVar.1
    Natural variantiVAR_07886486D → G in HSD10MD; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; no effect on NAD+ binding. 1 PublicationCorresponds to variant dbSNP:rs587777651EnsemblClinVar.1
    Natural variantiVAR_015987122L → V in HSD10MD. 1 PublicationCorresponds to variant dbSNP:rs28935476EnsemblClinVar.1
    Natural variantiVAR_015988130R → C in HSD10MD; decreased stability; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; decreased mitochondrial tRNA 5'-end processing; decreased tRNA methylation; does not affect homotetramerization. 7 PublicationsCorresponds to variant dbSNP:rs28935475EnsemblClinVar.1
    Natural variantiVAR_078865165Q → H in HSD10MD; loss of 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; does not bind NAD+. 2 Publications1
    Natural variantiVAR_080050176V → M in HSD10MD; decreased dehydrogenase activity; strongly decreased tRNA methylation; strongly decreased mitochondrial tRNA 5'-end processing. 1 Publication1
    Natural variantiVAR_080051210P → S in HSD10MD; decreased 3-hydroxyacyl-CoA dehydrogenase activity; decreased mitochondrial tRNA 5'-end processing; decreased tRNA methylation; does not affect homotetramerization. 2 Publications1
    Natural variantiVAR_078866212K → E in HSD10MD; 4-fold decrease of 3-hydroxyacyl-CoA dehydrogenase; decreased interaction with TRMT10C; decreased function in mitochondrial tRNA methylation; decreased function in mitochondrial tRNA processing. 1 PublicationCorresponds to variant dbSNP:rs886041974EnsemblClinVar.1
    Natural variantiVAR_080052226R → Q in HSD10MD; strongly decreased 3-hydroxyacyl-CoA dehydrogenase activity; abolished mitochondrial tRNA 5'-end processing; abolished tRNA methylation; impaired homotetramerization. 2 Publications1
    Natural variantiVAR_032093247N → S in HSD10MD; strongly decreased 3-hydroxyacyl-CoA dehydrogenase activity; abolished mitochondrial tRNA 5'-end processing; abolished tRNA methylation; impaired homotetramerization. 3 PublicationsCorresponds to variant dbSNP:rs122461163Ensembl.1
    Natural variantiVAR_078867249E → Q in HSD10MD; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs62626305Ensembl.1
    Mental retardation, X-linked 17 (MRX17)1 Publication
    The gene represented in this entry is involved in disease pathogenesis. A chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation.
    Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
    See also OMIM:300705

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi20S → F: Decreased dehydrogenase activity. Does not affect mitochondrial tRNA 5'-end processing. Does not affect tRNA methylation. 2 Publications1
    Mutagenesisi172K → A: Abolishes dehydrogenase activity. Does not affect mitochondrial tRNA 5'-end processing. Does not affect tRNA methylation. Does not affect homotetramerization. 2 Publications1

    Keywords - Diseasei

    Disease mutation, Mental retardation, Neurodegeneration

    Organism-specific databases

    DisGeNETi3028
    MalaCardsiHSD17B10
    MIMi300438 phenotype
    300705 phenotype
    OpenTargetsiENSG00000072506
    Orphaneti85295 HSD10 disease, atypical type
    391428 HSD10 disease, infantile type
    391457 HSD10 disease, neonatal type
    PharmGKBiPA162391638

    Chemistry databases

    ChEMBLiCHEMBL4159
    DrugBankiDB00157 NADH

    Polymorphism and mutation databases

    BioMutaiHSD17B10
    DMDMi2492759

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Initiator methionineiRemovedCombined sources
    ChainiPRO_00000548102 – 2613-hydroxyacyl-CoA dehydrogenase type-2Add BLAST260

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei2N-acetylalanineCombined sources1
    Modified residuei53N6-acetyllysine; alternateBy similarity1
    Modified residuei53N6-succinyllysine; alternateBy similarity1
    Modified residuei69N6-acetyllysineBy similarity1
    Modified residuei99N6-acetyllysineBy similarity1
    Modified residuei105N6-acetyllysineBy similarity1
    Modified residuei212N6-acetyllysine; alternateBy similarity1
    Modified residuei212N6-succinyllysine; alternateBy similarity1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    EPDiQ99714
    MaxQBiQ99714
    PaxDbiQ99714
    PeptideAtlasiQ99714
    PRIDEiQ99714
    ProteomicsDBi78427
    78428 [Q99714-2]
    TopDownProteomicsiQ99714-1 [Q99714-1]
    Q99714-2 [Q99714-2]

    2D gel databases

    REPRODUCTION-2DPAGEiIPI00017726
    Q99714
    UCD-2DPAGEiQ99714

    PTM databases

    iPTMnetiQ99714
    PhosphoSitePlusiQ99714
    SwissPalmiQ99714

    Expressioni

    Tissue specificityi

    Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD.1 Publication

    Gene expression databases

    BgeeiENSG00000072506 Expressed in 104 organ(s), highest expression level in right lobe of liver
    CleanExiHS_HSD17B10
    ExpressionAtlasiQ99714 baseline and differential
    GenevisibleiQ99714 HS

    Organism-specific databases

    HPAiHPA001432

    Interactioni

    Subunit structurei

    Homotetramer (PubMed:15342248, PubMed:20077426, PubMed:25925575). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP31 (PubMed:18984158, PubMed:25925575, PubMed:26950678, PubMed:28888424). Interacts with TRMT10C/MRPP1; forming the MRPP1-MRPP2 subcomplex of the mitochondrial ribonuclease P complex (PubMed:23042678, PubMed:29040705).8 Publications

    Binary interactionsi

    Protein-protein interaction databases

    BioGridi109278, 381 interactors
    IntActiQ99714, 181 interactors
    MINTiQ99714
    STRINGi9606.ENSP00000168216

    Chemistry databases

    BindingDBiQ99714

    Structurei

    Secondary structure

    1261
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliQ99714
    SMRiQ99714
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ99714

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiKOG1199 Eukaryota
    ENOG410XNNW LUCA
    GeneTreeiENSGT00920000148965
    HOVERGENiHBG002145
    InParanoidiQ99714
    KOiK08683
    OMAiLMGLVNC
    OrthoDBiEOG091G0G9O
    PhylomeDBiQ99714
    TreeFamiTF354307

    Family and domain databases

    InterProiView protein in InterPro
    IPR036291 NAD(P)-bd_dom_sf
    IPR020904 Sc_DH/Rdtase_CS
    IPR002347 SDR_fam
    PfamiView protein in Pfam
    PF00106 adh_short, 1 hit
    PRINTSiPR00081 GDHRDH
    PR00080 SDRFAMILY
    SUPFAMiSSF51735 SSF51735, 1 hit
    PROSITEiView protein in PROSITE
    PS00061 ADH_SHORT, 1 hit

    Sequences (2+)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q99714-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MAAACRSVKG LVAVITGGAS GLGLATAERL VGQGASAVLL DLPNSGGEAQ
    60 70 80 90 100
    AKKLGNNCVF APADVTSEKD VQTALALAKG KFGRVDVAVN CAGIAVASKT
    110 120 130 140 150
    YNLKKGQTHT LEDFQRVLDV NLMGTFNVIR LVAGEMGQNE PDQGGQRGVI
    160 170 180 190 200
    INTASVAAFE GQVGQAAYSA SKGGIVGMTL PIARDLAPIG IRVMTIAPGL
    210 220 230 240 250
    FGTPLLTSLP EKVCNFLASQ VPFPSRLGDP AEYAHLVQAI IENPFLNGEV
    260
    IRLDGAIRMQ P
    Length:261
    Mass (Da):26,923
    Last modified:January 23, 2007 - v3
    Checksum:i9E74F242E3E6FEF1
    GO
    Isoform 2 (identifier: Q99714-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         191-199: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:252
    Mass (Da):25,984
    Checksum:iF36BB71070CE872D
    GO

    Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    Q5H928Q5H928_HUMAN
    3-hydroxyacyl-CoA dehydrogenase typ...
    HSD17B10 RP3-339A18.2-004
    169Annotation score:

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08004912V → L in HSD10MD; decreased dehydrogenase activity; decreased tRNA methylation; decreased mitochondrial tRNA 5'-end processing. 1 Publication1
    Natural variantiVAR_07886365V → A in HSD10MD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104886492EnsemblClinVar.1
    Natural variantiVAR_07886486D → G in HSD10MD; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; no effect on NAD+ binding. 1 PublicationCorresponds to variant dbSNP:rs587777651EnsemblClinVar.1
    Natural variantiVAR_015987122L → V in HSD10MD. 1 PublicationCorresponds to variant dbSNP:rs28935476EnsemblClinVar.1
    Natural variantiVAR_015988130R → C in HSD10MD; decreased stability; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; decreased mitochondrial tRNA 5'-end processing; decreased tRNA methylation; does not affect homotetramerization. 7 PublicationsCorresponds to variant dbSNP:rs28935475EnsemblClinVar.1
    Natural variantiVAR_078865165Q → H in HSD10MD; loss of 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; does not bind NAD+. 2 Publications1
    Natural variantiVAR_080050176V → M in HSD10MD; decreased dehydrogenase activity; strongly decreased tRNA methylation; strongly decreased mitochondrial tRNA 5'-end processing. 1 Publication1
    Natural variantiVAR_080051210P → S in HSD10MD; decreased 3-hydroxyacyl-CoA dehydrogenase activity; decreased mitochondrial tRNA 5'-end processing; decreased tRNA methylation; does not affect homotetramerization. 2 Publications1
    Natural variantiVAR_078866212K → E in HSD10MD; 4-fold decrease of 3-hydroxyacyl-CoA dehydrogenase; decreased interaction with TRMT10C; decreased function in mitochondrial tRNA methylation; decreased function in mitochondrial tRNA processing. 1 PublicationCorresponds to variant dbSNP:rs886041974EnsemblClinVar.1
    Natural variantiVAR_080052226R → Q in HSD10MD; strongly decreased 3-hydroxyacyl-CoA dehydrogenase activity; abolished mitochondrial tRNA 5'-end processing; abolished tRNA methylation; impaired homotetramerization. 2 Publications1
    Natural variantiVAR_032093247N → S in HSD10MD; strongly decreased 3-hydroxyacyl-CoA dehydrogenase activity; abolished mitochondrial tRNA 5'-end processing; abolished tRNA methylation; impaired homotetramerization. 3 PublicationsCorresponds to variant dbSNP:rs122461163Ensembl.1
    Natural variantiVAR_078867249E → Q in HSD10MD; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs62626305Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_007830191 – 199Missing in isoform 2. 1 Publication9

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U96132 mRNA Translation: AAC51812.1
    U73514 mRNA Translation: AAB68958.1
    AF069134 mRNA Translation: AAC39900.1
    AF035555 mRNA Translation: AAC15902.1
    AF037438 Genomic DNA Translation: AAC16419.1
    CR456723 mRNA Translation: CAG33004.1
    Z97054 Genomic DNA Translation: CAI42652.1
    Z97054 Genomic DNA Translation: CAI42653.1
    CH471154 Genomic DNA Translation: EAW93157.1
    CH471154 Genomic DNA Translation: EAW93158.1
    BC000372 mRNA Translation: AAH00372.1
    BC008708 mRNA Translation: AAH08708.1
    AY092415 mRNA Translation: AAM18189.1
    CCDSiCCDS14354.1 [Q99714-1]
    CCDS35300.1 [Q99714-2]
    RefSeqiNP_001032900.1, NM_001037811.2 [Q99714-2]
    NP_004484.1, NM_004493.2 [Q99714-1]
    UniGeneiHs.171280

    Genome annotation databases

    EnsembliENST00000168216; ENSP00000168216; ENSG00000072506 [Q99714-1]
    ENST00000375304; ENSP00000364453; ENSG00000072506 [Q99714-2]
    GeneIDi3028
    KEGGihsa:3028
    UCSCiuc004dsl.2 human [Q99714-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U96132 mRNA Translation: AAC51812.1
    U73514 mRNA Translation: AAB68958.1
    AF069134 mRNA Translation: AAC39900.1
    AF035555 mRNA Translation: AAC15902.1
    AF037438 Genomic DNA Translation: AAC16419.1
    CR456723 mRNA Translation: CAG33004.1
    Z97054 Genomic DNA Translation: CAI42652.1
    Z97054 Genomic DNA Translation: CAI42653.1
    CH471154 Genomic DNA Translation: EAW93157.1
    CH471154 Genomic DNA Translation: EAW93158.1
    BC000372 mRNA Translation: AAH00372.1
    BC008708 mRNA Translation: AAH08708.1
    AY092415 mRNA Translation: AAM18189.1
    CCDSiCCDS14354.1 [Q99714-1]
    CCDS35300.1 [Q99714-2]
    RefSeqiNP_001032900.1, NM_001037811.2 [Q99714-2]
    NP_004484.1, NM_004493.2 [Q99714-1]
    UniGeneiHs.171280

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1F67model-A1-261[»]
    1SO8X-ray2.30A1-261[»]
    1U7TX-ray2.00A/B/C/D1-261[»]
    2O23X-ray1.20A/B1-261[»]
    ProteinModelPortaliQ99714
    SMRiQ99714
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi109278, 381 interactors
    IntActiQ99714, 181 interactors
    MINTiQ99714
    STRINGi9606.ENSP00000168216

    Chemistry databases

    BindingDBiQ99714
    ChEMBLiCHEMBL4159
    DrugBankiDB00157 NADH
    SwissLipidsiSLP:000000787

    PTM databases

    iPTMnetiQ99714
    PhosphoSitePlusiQ99714
    SwissPalmiQ99714

    Polymorphism and mutation databases

    BioMutaiHSD17B10
    DMDMi2492759

    2D gel databases

    REPRODUCTION-2DPAGEiIPI00017726
    Q99714
    UCD-2DPAGEiQ99714

    Proteomic databases

    EPDiQ99714
    MaxQBiQ99714
    PaxDbiQ99714
    PeptideAtlasiQ99714
    PRIDEiQ99714
    ProteomicsDBi78427
    78428 [Q99714-2]
    TopDownProteomicsiQ99714-1 [Q99714-1]
    Q99714-2 [Q99714-2]

    Protocols and materials databases

    DNASUi3028
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000168216; ENSP00000168216; ENSG00000072506 [Q99714-1]
    ENST00000375304; ENSP00000364453; ENSG00000072506 [Q99714-2]
    GeneIDi3028
    KEGGihsa:3028
    UCSCiuc004dsl.2 human [Q99714-1]

    Organism-specific databases

    CTDi3028
    DisGeNETi3028
    EuPathDBiHostDB:ENSG00000072506.12
    GeneCardsiHSD17B10
    HGNCiHGNC:4800 HSD17B10
    HPAiHPA001432
    MalaCardsiHSD17B10
    MIMi300256 gene
    300438 phenotype
    300705 phenotype
    neXtProtiNX_Q99714
    OpenTargetsiENSG00000072506
    Orphaneti85295 HSD10 disease, atypical type
    391428 HSD10 disease, infantile type
    391457 HSD10 disease, neonatal type
    PharmGKBiPA162391638
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG1199 Eukaryota
    ENOG410XNNW LUCA
    GeneTreeiENSGT00920000148965
    HOVERGENiHBG002145
    InParanoidiQ99714
    KOiK08683
    OMAiLMGLVNC
    OrthoDBiEOG091G0G9O
    PhylomeDBiQ99714
    TreeFamiTF354307

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01071-MONOMER
    BRENDAi1.1.1.178 2681
    1.1.1.35 2681
    ReactomeiR-HSA-6785470 tRNA processing in the mitochondrion
    R-HSA-6787450 tRNA modification in the mitochondrion
    R-HSA-70895 Branched-chain amino acid catabolism
    R-HSA-8868766 rRNA processing in the mitochondrion
    SABIO-RKiQ99714

    Miscellaneous databases

    ChiTaRSiHSD17B10 human
    EvolutionaryTraceiQ99714
    GeneWikiiHSD17B10
    GenomeRNAii3028
    PROiPR:Q99714
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000072506 Expressed in 104 organ(s), highest expression level in right lobe of liver
    CleanExiHS_HSD17B10
    ExpressionAtlasiQ99714 baseline and differential
    GenevisibleiQ99714 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR036291 NAD(P)-bd_dom_sf
    IPR020904 Sc_DH/Rdtase_CS
    IPR002347 SDR_fam
    PfamiView protein in Pfam
    PF00106 adh_short, 1 hit
    PRINTSiPR00081 GDHRDH
    PR00080 SDRFAMILY
    SUPFAMiSSF51735 SSF51735, 1 hit
    PROSITEiView protein in PROSITE
    PS00061 ADH_SHORT, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiHCD2_HUMAN
    AccessioniPrimary (citable) accession number: Q99714
    Secondary accession number(s): Q5H927
    , Q6IBS9, Q8TCV9, Q96HD5
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: January 23, 2007
    Last modified: September 12, 2018
    This is version 200 of the entry and version 3 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
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