UniProtKB - Q99714 (HCD2_HUMAN)
3-hydroxyacyl-CoA dehydrogenase type-2
HSD17B10
Functioni
Catalytic activityi
- EC:1.1.1.355 Publications
- (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+ = 2-methyl-3-oxobutanoyl-CoA + H+ + NADH3 PublicationsEC:1.1.1.1783 PublicationsThis reaction proceeds in the forward3 Publications direction.
- EC:1.1.1.2391 PublicationThis reaction proceeds in the forward1 Publication direction.
- EC:1.1.1.531 PublicationThis reaction proceeds in the backward1 Publication direction.
- EC:1.1.1.622 PublicationsThis reaction proceeds in the forward2 Publications direction.
- EC:1.1.1.1591 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward2 Publications direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- 3β,7β-dihydroxy-5β-cholan-24-oate + NAD+ = 3β-hydroxy-7-oxo-5β-cholan-24-oate + H+ + NADH1 PublicationThis reaction proceeds in the forward1 Publication direction.
Activity regulationi
Kineticsi
- 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
- 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
- KM=41 µM for androsterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
- 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
- KM=219 µM for isoursodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
- KM=36.4 µM for chenodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
- KM=1.7 µM for dehydrocorticosterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius)1 Publication
- KM=30.6 µM for NADH (in the presence of acetoacetyl-CoA, at pH 7.0 and 25 degrees Celsius)1 Publication
- KM=42.3 µM for NAD (in the presence of beta-hydroxybutyryl-CoA, at pH 9.3 and 25 degrees Celsius)1 Publication
- KM=69 µM for DL-3-hydroxybutyryl-CoA1 Publication
- KM=7.7 µM for 3alpha-hydroxy-5alpha-pregnan-20-one/allopregnanolone1 Publication
- KM=30 µM for 3alpha-hydroxy-5alpha-pregnan-20-one/allopregnanolone1 Publication
- KM=140 µM for tetramyristoyl cardiolipin1 Publication
- KM=148 µM for tetralinoleoyl cardiolipin1 Publication
- KM=40 µM for oxidized tetralinoleoyl cardiolipin1 Publication
- KM=7.1 µM for (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA1 Publication
- Vmax=14.8 µmol/min/mg enzyme toward (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA1 Publication
- Vmax=150 µmol/min/mg enzyme 3alpha-hydroxy-5alpha-pregnan-20-one/allopregnanolone1 Publication
pH dependencei
: L-isoleucine degradation Pathwayi
This protein is involved in the pathway L-isoleucine degradation, which is part of Amino-acid degradation.1 PublicationView all proteins of this organism that are known to be involved in the pathway L-isoleucine degradation and in Amino-acid degradation.
Pathwayi: fatty acid beta-oxidation
This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.3 PublicationsView all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.
Pathwayi: Steroid metabolism
This protein is involved in Steroid metabolism.2 PublicationsView all proteins of this organism that are known to be involved in Steroid metabolism.
Pathwayi: bile acid biosynthesis
This protein is involved in the pathway bile acid biosynthesis, which is part of Lipid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway bile acid biosynthesis and in Lipid metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 155 | Substrate1 Publication | 1 | |
Active sitei | 168 | Proton acceptor1 Publication | 1 | |
Binding sitei | 172 | NAD1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 12 – 41 | NAD1 PublicationAdd BLAST | 30 |
GO - Molecular functioni
- 17-beta-hydroxysteroid dehydrogenase (NAD+) activity Source: UniProtKB
- 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity Source: UniProtKB
- 3-hydroxyacyl-CoA dehydrogenase activity Source: UniProtKB
- androstan-3-alpha,17-beta-diol dehydrogenase activity Source: UniProtKB-EC
- chenodeoxycholate 7-alpha-dehydrogenase (NAD+) activity Source: UniProtKB
- cholate 7-alpha-dehydrogenase activity Source: UniProtKB
- isoursodeoxycholate 7-beta-dehydrogenase (NAD+) activity Source: UniProtKB
- RNA binding Source: UniProtKB
- testosterone dehydrogenase (NAD+) activity Source: UniProtKB
- testosterone dehydrogenase [NAD(P)] activity Source: UniProtKB
- tRNA binding Source: UniProtKB
- ursodeoxycholate 7-beta-dehydrogenase (NAD+) activity Source: UniProtKB
GO - Biological processi
- androgen metabolic process Source: UniProtKB
- bile acid biosynthetic process Source: UniProtKB
- branched-chain amino acid catabolic process Source: Reactome
- brexanolone metabolic process Source: UniProtKB
- C21-steroid hormone metabolic process Source: UniProtKB
- estrogen metabolic process Source: UniProtKB
- fatty acid beta-oxidation Source: UniProtKB
- isoleucine catabolic process Source: UniProtKB
- lipid metabolic process Source: ProtInc
- mitochondrial tRNA 3'-end processing Source: UniProtKB
- mitochondrial tRNA 5'-end processing Source: UniProtKB
- mitochondrial tRNA methylation Source: UniProtKB
- mitochondrion organization Source: UniProtKB
- protein homotetramerization Source: UniProtKB
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Fatty acid metabolism, Lipid metabolism, Steroid metabolism, tRNA processing |
Ligand | NAD |
Enzyme and pathway databases
BioCyci | MetaCyc:HS01071-MONOMER |
BRENDAi | 1.1.1.178, 2681 1.1.1.35, 2681 |
PathwayCommonsi | Q99714 |
Reactomei | R-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-RKi | Q99714 |
UniPathwayi | UPA00221 UPA00364 UPA00659 |
Chemistry databases
SwissLipidsi | SLP:000000787 |
Names & Taxonomyi
Protein namesi | Recommended name: 3-hydroxyacyl-CoA dehydrogenase type-2 (EC:1.1.1.355 Publications)Alternative name(s): 17-beta-estradiol 17-dehydrogenase (EC:1.1.1.622 Publications) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase1 Publication Short name: MHBD1 Publication 3-alpha-(17-beta)-hydroxysteroid dehydrogenase (NAD(+)) (EC:1.1.1.2391 Publication) 3-hydroxy-2-methylbutyryl-CoA dehydrogenase (EC:1.1.1.1783 Publications) 3-hydroxyacyl-CoA dehydrogenase type II 3alpha(or 20beta)-hydroxysteroid dehydrogenase (EC:1.1.1.531 Publication) 7-alpha-hydroxysteroid dehydrogenase (EC:1.1.1.1591 Publication) 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4800, HSD17B10 |
MIMi | 300256, gene |
neXtProti | NX_Q99714 |
VEuPathDBi | HostDB:ENSG00000072506.12 |
Subcellular locationi
Mitochondrion
- Mitochondrion 2 Publications
- mitochondrion nucleoid 1 Publication
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrial nucleoid Source: UniProtKB
- mitochondrial ribonuclease P complex Source: UniProtKB
- mitochondrion Source: CAFA
Plasma Membrane
- plasma membrane Source: ProtInc
Other locations
- cytoplasm Source: ProtInc
Keywords - Cellular componenti
Mitochondrion, Mitochondrion nucleoidPathology & Biotechi
Involvement in diseasei
HDS10 mitochondrial disease (HSD10MD)13 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080049 | 12 | V → L in HSD10MD; decreased dehydrogenase activity; decreased tRNA methylation; decreased mitochondrial tRNA 5'-end processing. 1 Publication | 1 | |
Natural variantiVAR_078863 | 65 | V → A in HSD10MD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104886492EnsemblClinVar. | 1 | |
Natural variantiVAR_078864 | 86 | D → G in HSD10MD; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; no effect on NAD+ binding; complete loss of phospholipase C-like activity toward cardiolipin. 2 PublicationsCorresponds to variant dbSNP:rs587777651EnsemblClinVar. | 1 | |
Natural variantiVAR_015987 | 122 | L → V in HSD10MD. 1 PublicationCorresponds to variant dbSNP:rs28935476EnsemblClinVar. | 1 | |
Natural variantiVAR_015988 | 130 | R → 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; complete loss of phospholipase C-like activity toward cardiolipin. 8 PublicationsCorresponds to variant dbSNP:rs28935475EnsemblClinVar. | 1 | |
Natural variantiVAR_078865 | 165 | Q → H in HSD10MD; loss of 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; does not bind NAD+; complete loss of phospholipase C-like activity toward cardiolipin. 3 Publications | 1 | |
Natural variantiVAR_080050 | 176 | V → M in HSD10MD; decreased dehydrogenase activity; strongly decreased tRNA methylation; strongly decreased mitochondrial tRNA 5'-end processing. 1 Publication | 1 | |
Natural variantiVAR_080051 | 210 | P → S in HSD10MD; decreased 3-hydroxyacyl-CoA dehydrogenase activity; decreased mitochondrial tRNA 5'-end processing; decreased tRNA methylation; does not affect homotetramerization. 2 Publications | 1 | |
Natural variantiVAR_078866 | 212 | K → E in HSD10MD; 4-fold decrease of 3-hydroxyacyl-CoA dehydrogenase activity; decreased interaction with TRMT10C; decreased function in mitochondrial tRNA methylation; decreased function in mitochondrial tRNA processing. 1 PublicationCorresponds to variant dbSNP:rs886041974Ensembl. | 1 | |
Natural variantiVAR_080052 | 226 | R → Q in HSD10MD; strongly decreased 3-hydroxyacyl-CoA dehydrogenase activity; abolished mitochondrial tRNA 5'-end processing; abolished tRNA methylation; impaired homotetramerization. 2 PublicationsCorresponds to variant dbSNP:rs1556894502Ensembl. | 1 | |
Natural variantiVAR_032093 | 247 | N → 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_078867 | 249 | E → Q in HSD10MD; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs62626305Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 20 | S → F: Decreased dehydrogenase activity. Does not affect mitochondrial tRNA 5'-end processing. Does not affect tRNA methylation. 2 Publications | 1 | |
Mutagenesisi | 172 | K → A: Abolishes dehydrogenase activity. Does not affect mitochondrial tRNA 5'-end processing. Does not affect tRNA methylation. Does not affect homotetramerization. 2 Publications | 1 |
Keywords - Diseasei
Disease variant, Mental retardation, NeurodegenerationOrganism-specific databases
DisGeNETi | 3028 |
MalaCardsi | HSD17B10 |
MIMi | 300438, phenotype |
OpenTargetsi | ENSG00000072506 |
Orphaneti | 85295, HSD10 disease, atypical type 391428, HSD10 disease, infantile type 391457, HSD10 disease, neonatal type |
PharmGKBi | PA162391638 |
Miscellaneous databases
Pharosi | Q99714, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4159 |
DrugBanki | DB02820, 1-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone Adduct DB00157, NADH DB09568, Omega-3-carboxylic acids |
Genetic variation databases
BioMutai | HSD17B10 |
DMDMi | 2492759 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000054810 | 2 – 261 | 3-hydroxyacyl-CoA dehydrogenase type-2Add BLAST | 260 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 53 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 53 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 69 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 99 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 105 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 212 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 212 | N6-succinyllysine; alternateBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
CPTACi | CPTAC-522 CPTAC-523 |
EPDi | Q99714 |
jPOSTi | Q99714 |
MassIVEi | Q99714 |
MaxQBi | Q99714 |
PaxDbi | Q99714 |
PeptideAtlasi | Q99714 |
PRIDEi | Q99714 |
ProteomicsDBi | 78427 [Q99714-1] 78428 [Q99714-2] |
TopDownProteomicsi | Q99714-1 [Q99714-1] Q99714-2 [Q99714-2] |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00017726 Q99714 |
UCD-2DPAGEi | Q99714 |
PTM databases
iPTMneti | Q99714 |
MetOSitei | Q99714 |
PhosphoSitePlusi | Q99714 |
SwissPalmi | Q99714 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000072506, Expressed in right lobe of liver and 127 other tissues |
ExpressionAtlasi | Q99714, baseline and differential |
Genevisiblei | Q99714, HS |
Organism-specific databases
HPAi | ENSG00000072506, Low tissue specificity |
Interactioni
Subunit structurei
Homotetramer (PubMed:15342248, PubMed:20077426, PubMed:25925575).
Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3 (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 PublicationsBinary interactionsi
Hide detailsQ99714
Isoform 2 [Q99714-2]
With | #Exp. | IntAct |
---|---|---|
APP [P05067] | 3 | EBI-25939412,EBI-77613 |
Protein-protein interaction databases
BioGRIDi | 109278, 470 interactors |
ComplexPortali | CPX-6155, Mitochondrial ribonuclease P complex CPX-6161, Mitochondrial tRNA:m(1)R9 methyltransferase complex |
CORUMi | Q99714 |
IntActi | Q99714, 199 interactors |
MINTi | Q99714 |
STRINGi | 9606.ENSP00000168216 |
Chemistry databases
BindingDBi | Q99714 |
Miscellaneous databases
RNActi | Q99714, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q99714 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q99714 |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1199, Eukaryota |
GeneTreei | ENSGT00940000155170 |
HOGENOMi | CLU_010194_42_0_1 |
InParanoidi | Q99714 |
OMAi | ANIRCVK |
PhylomeDBi | Q99714 |
TreeFami | TF354307 |
Family and domain databases
InterProi | View protein in InterPro IPR036291, NAD(P)-bd_dom_sf IPR020904, Sc_DH/Rdtase_CS IPR002347, SDR_fam |
Pfami | View protein in Pfam PF00106, adh_short, 1 hit |
PRINTSi | PR00081, GDHRDH PR00080, SDRFAMILY |
SUPFAMi | SSF51735, SSF51735, 1 hit |
PROSITEi | View protein in PROSITE PS00061, ADH_SHORT, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketQ5H928 | Q5H928_HUMAN | 3-hydroxyacyl-CoA dehydrogenase typ... | HSD17B10 RP3-339A18.2-004 | 169 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080049 | 12 | V → L in HSD10MD; decreased dehydrogenase activity; decreased tRNA methylation; decreased mitochondrial tRNA 5'-end processing. 1 Publication | 1 | |
Natural variantiVAR_078863 | 65 | V → A in HSD10MD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104886492EnsemblClinVar. | 1 | |
Natural variantiVAR_078864 | 86 | D → G in HSD10MD; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; no effect on NAD+ binding; complete loss of phospholipase C-like activity toward cardiolipin. 2 PublicationsCorresponds to variant dbSNP:rs587777651EnsemblClinVar. | 1 | |
Natural variantiVAR_015987 | 122 | L → V in HSD10MD. 1 PublicationCorresponds to variant dbSNP:rs28935476EnsemblClinVar. | 1 | |
Natural variantiVAR_015988 | 130 | R → 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; complete loss of phospholipase C-like activity toward cardiolipin. 8 PublicationsCorresponds to variant dbSNP:rs28935475EnsemblClinVar. | 1 | |
Natural variantiVAR_078865 | 165 | Q → H in HSD10MD; loss of 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; does not bind NAD+; complete loss of phospholipase C-like activity toward cardiolipin. 3 Publications | 1 | |
Natural variantiVAR_080050 | 176 | V → M in HSD10MD; decreased dehydrogenase activity; strongly decreased tRNA methylation; strongly decreased mitochondrial tRNA 5'-end processing. 1 Publication | 1 | |
Natural variantiVAR_080051 | 210 | P → S in HSD10MD; decreased 3-hydroxyacyl-CoA dehydrogenase activity; decreased mitochondrial tRNA 5'-end processing; decreased tRNA methylation; does not affect homotetramerization. 2 Publications | 1 | |
Natural variantiVAR_078866 | 212 | K → E in HSD10MD; 4-fold decrease of 3-hydroxyacyl-CoA dehydrogenase activity; decreased interaction with TRMT10C; decreased function in mitochondrial tRNA methylation; decreased function in mitochondrial tRNA processing. 1 PublicationCorresponds to variant dbSNP:rs886041974Ensembl. | 1 | |
Natural variantiVAR_080052 | 226 | R → Q in HSD10MD; strongly decreased 3-hydroxyacyl-CoA dehydrogenase activity; abolished mitochondrial tRNA 5'-end processing; abolished tRNA methylation; impaired homotetramerization. 2 PublicationsCorresponds to variant dbSNP:rs1556894502Ensembl. | 1 | |
Natural variantiVAR_032093 | 247 | N → 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_078867 | 249 | E → Q in HSD10MD; decreased 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs62626305Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_007830 | 191 – 199 | Missing in isoform 2. 1 Publication | 9 |
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 |
CCDSi | CCDS14354.1 [Q99714-1] CCDS35300.1 [Q99714-2] |
RefSeqi | NP_001032900.1, NM_001037811.2 [Q99714-2] NP_004484.1, NM_004493.2 [Q99714-1] |
Genome annotation databases
Ensembli | ENST00000168216; ENSP00000168216; ENSG00000072506 [Q99714-1] ENST00000375304; ENSP00000364453; ENSG00000072506 [Q99714-2] |
GeneIDi | 3028 |
KEGGi | hsa:3028 |
UCSCi | uc004dsl.2, human [Q99714-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS14354.1 [Q99714-1] CCDS35300.1 [Q99714-2] |
RefSeqi | NP_001032900.1, NM_001037811.2 [Q99714-2] NP_004484.1, NM_004493.2 [Q99714-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1F67 | model | - | A | 1-261 | [»] | |
1SO8 | X-ray | 2.30 | A | 1-261 | [»] | |
1U7T | X-ray | 2.00 | A/B/C/D | 1-261 | [»] | |
2O23 | X-ray | 1.20 | A/B | 1-261 | [»] | |
SMRi | Q99714 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109278, 470 interactors |
ComplexPortali | CPX-6155, Mitochondrial ribonuclease P complex CPX-6161, Mitochondrial tRNA:m(1)R9 methyltransferase complex |
CORUMi | Q99714 |
IntActi | Q99714, 199 interactors |
MINTi | Q99714 |
STRINGi | 9606.ENSP00000168216 |
Chemistry databases
BindingDBi | Q99714 |
ChEMBLi | CHEMBL4159 |
DrugBanki | DB02820, 1-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone Adduct DB00157, NADH DB09568, Omega-3-carboxylic acids |
SwissLipidsi | SLP:000000787 |
PTM databases
iPTMneti | Q99714 |
MetOSitei | Q99714 |
PhosphoSitePlusi | Q99714 |
SwissPalmi | Q99714 |
Genetic variation databases
BioMutai | HSD17B10 |
DMDMi | 2492759 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00017726 Q99714 |
UCD-2DPAGEi | Q99714 |
Proteomic databases
CPTACi | CPTAC-522 CPTAC-523 |
EPDi | Q99714 |
jPOSTi | Q99714 |
MassIVEi | Q99714 |
MaxQBi | Q99714 |
PaxDbi | Q99714 |
PeptideAtlasi | Q99714 |
PRIDEi | Q99714 |
ProteomicsDBi | 78427 [Q99714-1] 78428 [Q99714-2] |
TopDownProteomicsi | Q99714-1 [Q99714-1] Q99714-2 [Q99714-2] |
Protocols and materials databases
Antibodypediai | 357, 532 antibodies |
DNASUi | 3028 |
Genome annotation databases
Ensembli | ENST00000168216; ENSP00000168216; ENSG00000072506 [Q99714-1] ENST00000375304; ENSP00000364453; ENSG00000072506 [Q99714-2] |
GeneIDi | 3028 |
KEGGi | hsa:3028 |
UCSCi | uc004dsl.2, human [Q99714-1] |
Organism-specific databases
CTDi | 3028 |
DisGeNETi | 3028 |
GeneCardsi | HSD17B10 |
HGNCi | HGNC:4800, HSD17B10 |
HPAi | ENSG00000072506, Low tissue specificity |
MalaCardsi | HSD17B10 |
MIMi | 300256, gene 300438, phenotype |
neXtProti | NX_Q99714 |
OpenTargetsi | ENSG00000072506 |
Orphaneti | 85295, HSD10 disease, atypical type 391428, HSD10 disease, infantile type 391457, HSD10 disease, neonatal type |
PharmGKBi | PA162391638 |
VEuPathDBi | HostDB:ENSG00000072506.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1199, Eukaryota |
GeneTreei | ENSGT00940000155170 |
HOGENOMi | CLU_010194_42_0_1 |
InParanoidi | Q99714 |
OMAi | ANIRCVK |
PhylomeDBi | Q99714 |
TreeFami | TF354307 |
Enzyme and pathway databases
UniPathwayi | UPA00221 UPA00364 UPA00659 |
BioCyci | MetaCyc:HS01071-MONOMER |
BRENDAi | 1.1.1.178, 2681 1.1.1.35, 2681 |
PathwayCommonsi | Q99714 |
Reactomei | R-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-RKi | Q99714 |
Miscellaneous databases
BioGRID-ORCSi | 3028, 131 hits in 638 CRISPR screens |
ChiTaRSi | HSD17B10, human |
EvolutionaryTracei | Q99714 |
GeneWikii | HSD17B10 |
GenomeRNAii | 3028 |
Pharosi | Q99714, Tbio |
PROi | PR:Q99714 |
RNActi | Q99714, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000072506, Expressed in right lobe of liver and 127 other tissues |
ExpressionAtlasi | Q99714, baseline and differential |
Genevisiblei | Q99714, HS |
Family and domain databases
InterProi | View protein in InterPro IPR036291, NAD(P)-bd_dom_sf IPR020904, Sc_DH/Rdtase_CS IPR002347, SDR_fam |
Pfami | View protein in Pfam PF00106, adh_short, 1 hit |
PRINTSi | PR00081, GDHRDH PR00080, SDRFAMILY |
SUPFAMi | SSF51735, SSF51735, 1 hit |
PROSITEi | View protein in PROSITE PS00061, ADH_SHORT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HCD2_HUMAN | |
Accessioni | Q99714Primary (citable) accession number: Q99714 Secondary accession number(s): Q5H927 Q96HD5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | January 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 218 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families