UniProtKB - P51659 (DHB4_HUMAN)
Protein
Peroxisomal multifunctional enzyme type 2
Gene
HSD17B4
Organism
Homo sapiens (Human)
Status
Functioni
Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from straight-chain, 2-methyl-branched-chain fatty acids bile acid intermediates. With EHHADH, catalyzes the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposite chiral specificity (PubMed:10671535).4 Publications
Miscellaneous
The protein is found both as a full-length peptide and in a cleaved version.
Catalytic activityi
- EC:1.1.1.n121 PublicationThis reaction proceeds in the forward1 Publication direction.
- (24R,25R)-3α,7α,12α,24-tetrahydroxy-5β-cholestan-26-oyl-CoA = (24E)-3α,7α,12α-trihydroxy-5β-cholest-24-en-26-oyl-CoA + H2O2 PublicationsEC:4.2.1.1072 PublicationsThis reaction proceeds in the backward2 Publications direction.
- EC:4.2.1.1191 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 forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the backward1 Publication direction.
- This reaction proceeds in the backward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- (24R,25R)-3α,7α,12α,24-tetrahydroxy-5β-cholestan-26-oyl-CoA + NAD+ = 3α,7α,12α-trihydroxy-24-oxo-5β-cholestan-26-oyl-CoA + H+ + NADH2 PublicationsThis reaction proceeds in the forward2 Publications direction.
Kineticsi
- KM=10 µM for D-3-hydroxy-octanoyl-CoA1 Publication
- KM=13 µM for NAD1 Publication
- KM=2.7 µM for 3-ketooctanoyl-CoA1 Publication
- KM=5.4 µM for NADH1 Publication
- KM=0.9 µM for (3S)-hydroxyhexadecanedioyl-CoA1 Publication
- KM=12.8 µM for (3S)-hydroxyhexadecanoyl-CoA1 Publication
- Vmax=8.8 µmol/min/mg enzyme1 Publication
: fatty acid beta-oxidation Pathwayi
This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.4 PublicationsView all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 21 | NAD; via amide nitrogen | 1 | |
Binding sitei | 40 | NAD | 1 | |
Binding sitei | 99 | NAD; via carbonyl oxygen | 1 | |
Binding sitei | 151 | SubstrateBy similarity | 1 | |
Active sitei | 164 | Proton acceptorPROSITE-ProRule annotation | 1 | |
Binding sitei | 435 | (3R)-3-hydroxydecanoyl-CoABy similarity | 1 | |
Binding sitei | 533 | (3R)-3-hydroxydecanoyl-CoA; via amide nitrogenBy similarity | 1 | |
Binding sitei | 563 | (3R)-3-hydroxydecanoyl-CoA; via carbonyl oxygenBy similarity | 1 | |
Binding sitei | 706 | Substrate | 1 | |
Binding sitei | 724 | Substrate | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 13 – 37 | NADBy similarityAdd BLAST | 25 | |
Nucleotide bindingi | 75 – 76 | NAD | 2 | |
Nucleotide bindingi | 164 – 168 | NAD | 5 | |
Nucleotide bindingi | 196 – 199 | NAD | 4 |
GO - Molecular functioni
- 17-beta-hydroxysteroid dehydrogenase (NAD+) activity Source: UniProtKB
- 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity Source: UniProtKB-EC
- 3-hydroxyacyl-CoA dehydrogenase activity Source: UniProtKB
- enoyl-CoA hydratase activity Source: UniProtKB
- isomerase activity Source: UniProtKB-KW
- long-chain-enoyl-CoA hydratase activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
GO - Biological processi
- alpha-linolenic acid metabolic process Source: Reactome
- androgen metabolic process Source: UniProtKB
- bile acid biosynthetic process Source: Reactome
- estrogen metabolic process Source: UniProtKB
- fatty acid beta-oxidation Source: UniProtKB
- fatty acid beta-oxidation using acyl-CoA oxidase Source: Reactome
- medium-chain fatty-acyl-CoA metabolic process Source: UniProtKB
- osteoblast differentiation Source: UniProtKB
- protein targeting to peroxisome Source: Reactome
- Sertoli cell development Source: Ensembl
- very long-chain fatty acid metabolic process Source: Ensembl
- very long-chain fatty-acyl-CoA metabolic process Source: UniProtKB
Keywordsi
Molecular function | Isomerase, Lyase, Oxidoreductase |
Biological process | Fatty acid metabolism, Lipid metabolism |
Ligand | NAD |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05792-MONOMER |
BRENDAi | 4.2.1.119, 2681 |
PathwayCommonsi | P51659 |
Reactomei | R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-2046106, alpha-linolenic acid (ALA) metabolism R-HSA-389887, Beta-oxidation of pristanoyl-CoA R-HSA-390247, Beta-oxidation of very long chain fatty acids R-HSA-9033241, Peroxisomal protein import R-HSA-9033500, TYSND1 cleaves peroxisomal proteins |
SABIO-RKi | P51659 |
UniPathwayi | UPA00659 |
Chemistry databases
SwissLipidsi | SLP:000000540 |
Names & Taxonomyi
Protein namesi | Recommended name: Peroxisomal multifunctional enzyme type 2CuratedShort name: MFE-21 Publication Alternative name(s): 17-beta-hydroxysteroid dehydrogenase 4 Short name: 17-beta-HSD 4 D-bifunctional protein1 Publication Short name: DBP1 Publication Multifunctional protein 2 Short name: MFP-2 Short chain dehydrogenase/reductase family 8C member 1 Cleaved into the following 2 chains: (3R)-hydroxyacyl-CoA dehydrogenase (EC:1.1.1.n121 Publication) Enoyl-CoA hydratase 2 (EC:4.2.1.1071 Publication, EC:4.2.1.1191 Publication) Alternative name(s): 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase |
Gene namesi | |
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:5213, HSD17B4 |
MIMi | 601860, gene |
neXtProti | NX_P51659 |
VEuPathDBi | HostDB:ENSG00000133835.14 |
Subcellular locationi
Peroxisome
- Peroxisome Curated
Cytosol
- cytosol Source: Reactome
Peroxisome
- peroxisomal matrix Source: Reactome
- peroxisomal membrane Source: UniProtKB
- peroxisome Source: UniProtKB
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
PeroxisomePathology & Biotechi
Involvement in diseasei
D-bifunctional protein deficiency (DBPD)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionDisorder of peroxisomal fatty acid beta-oxidation.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037576 | 16 | G → S in DBPD; no dehydrogenase activity. 2 PublicationsCorresponds to variant dbSNP:rs137853096EnsemblClinVar. | 1 | |
Natural variantiVAR_065906 | 106 | R → P in DBPD. 1 PublicationCorresponds to variant dbSNP:rs25640EnsemblClinVar. | 1 | |
Natural variantiVAR_065908 | 457 | N → Y in DBPD; the mutation leads to an unstable protein. 1 PublicationCorresponds to variant dbSNP:rs137853097EnsemblClinVar. | 1 |
Perrault syndrome 1 (PRLTS1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065907 | 217 | Y → C in PRLTS1. 1 PublicationCorresponds to variant dbSNP:rs387906825EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 347 | Y → A: No hydratase activity. 1 Publication | 1 | |
Mutagenesisi | 366 | E → A: No hydratase activity. 1 Publication | 1 | |
Mutagenesisi | 370 | D → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 406 | H → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 408 | E → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 410 | Y → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 490 | D → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 505 | Y → A: Completely inactive. 1 Publication | 1 | |
Mutagenesisi | 510 | D → A: No hydratase activity. 1 Publication | 1 | |
Mutagenesisi | 515 | H → A: Completely inactive. 1 Publication | 1 | |
Mutagenesisi | 517 | D → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 532 | H → A: No effect. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease variantOrganism-specific databases
DisGeNETi | 3295 |
GeneReviewsi | HSD17B4 |
MalaCardsi | HSD17B4 |
MIMi | 233400, phenotype 261515, phenotype |
OpenTargetsi | ENSG00000133835 |
Orphaneti | 300, Bifunctional enzyme deficiency 2855, Perrault syndrome |
PharmGKBi | PA29481 |
Miscellaneous databases
Pharosi | P51659, Tbio |
Chemistry databases
ChEMBLi | CHEMBL5814 |
DrugBanki | DB03192, (R)-3-hydroxydecanoyl-CoA DB00157, NADH |
Genetic variation databases
BioMutai | HSD17B4 |
DMDMi | 1706396 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000054583 | 1 – 736 | Peroxisomal multifunctional enzyme type 2Add BLAST | 736 | |
ChainiPRO_0000400082 | 1 – 311 | (3R)-hydroxyacyl-CoA dehydrogenaseAdd BLAST | 311 | |
ChainiPRO_0000400083 | 312 – 736 | Enoyl-CoA hydratase 2Add BLAST | 425 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 46 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 46 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 52 | PhosphoserineCombined sources | 1 | |
Modified residuei | 57 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 68 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 84 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 265 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 275 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 304 | PhosphoserineCombined sources | 1 | |
Modified residuei | 309 | PhosphoserineCombined sources | 1 | |
Modified residuei | 356 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 424 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 565 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 579 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 663 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 669 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 707 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 725 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-389 CPTAC-390 |
EPDi | P51659 |
jPOSTi | P51659 |
MassIVEi | P51659 |
MaxQBi | P51659 |
PaxDbi | P51659 |
PeptideAtlasi | P51659 |
PRIDEi | P51659 |
ProteomicsDBi | 19165 27834 56360 [P51659-1] |
TopDownProteomicsi | P51659-1 [P51659-1] |
PTM databases
iPTMneti | P51659 |
PhosphoSitePlusi | P51659 |
SwissPalmi | P51659 |
Expressioni
Tissue specificityi
Present in many tissues with highest concentrations in liver, heart, prostate and testis.
Gene expression databases
Bgeei | ENSG00000133835, Expressed in corpus callosum and 242 other tissues |
ExpressionAtlasi | P51659, baseline and differential |
Genevisiblei | P51659, HS |
Organism-specific databases
HPAi | ENSG00000133835, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
2 PublicationsGO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 109528, 96 interactors |
IntActi | P51659, 47 interactors |
MINTi | P51659 |
STRINGi | 9606.ENSP00000420914 |
Miscellaneous databases
RNActi | P51659, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SASBDBi | P51659 |
SMRi | P51659 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P51659 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 484 – 600 | MaoC-likeAdd BLAST | 117 | |
Domaini | 624 – 736 | SCP2Add BLAST | 113 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 305 | (3R)-hydroxyacyl-CoA dehydrogenaseAdd BLAST | 305 | |
Regioni | 322 – 622 | Enoyl-CoA hydratase 2Add BLAST | 301 | |
Regioni | 406 – 407 | (3R)-3-hydroxydecanoyl-CoA bindingBy similarity | 2 | |
Regioni | 510 – 515 | (3R)-3-hydroxydecanoyl-CoA bindingBy similarity | 6 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 734 – 736 | Microbody targeting signalSequence analysis | 3 |
Sequence similaritiesi
Belongs to the short-chain dehydrogenases/reductases (SDR) family.Curated
Phylogenomic databases
eggNOGi | KOG1206, Eukaryota |
GeneTreei | ENSGT00940000158343 |
HOGENOMi | CLU_010194_18_4_1 |
InParanoidi | P51659 |
OMAi | CTQAAFP |
PhylomeDBi | P51659 |
TreeFami | TF105656 |
Family and domain databases
Gene3Di | 3.30.1050.10, 1 hit |
InterProi | View protein in InterPro IPR029069, HotDog_dom_sf IPR002539, MaoC-like_dom IPR036291, NAD(P)-bd_dom_sf IPR020904, Sc_DH/Rdtase_CS IPR003033, SCP2_sterol-bd_dom IPR036527, SCP2_sterol-bd_dom_sf IPR002347, SDR_fam |
Pfami | View protein in Pfam PF00106, adh_short, 1 hit PF01575, MaoC_dehydratas, 1 hit PF02036, SCP2, 1 hit |
PRINTSi | PR00081, GDHRDH PR00080, SDRFAMILY |
SUPFAMi | SSF51735, SSF51735, 1 hit SSF54637, SSF54637, 2 hits SSF55718, SSF55718, 1 hit |
PROSITEi | View protein in PROSITE PS00061, ADH_SHORT, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P51659-1) [UniParc]FASTAAdd to basket
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
MGSPLRFDGR VVLVTGAGAG LGRAYALAFA ERGALVVVND LGGDFKGVGK
60 70 80 90 100
GSLAADKVVE EIRRRGGKAV ANYDSVEEGE KVVKTALDAF GRIDVVVNNA
110 120 130 140 150
GILRDRSFAR ISDEDWDIIH RVHLRGSFQV TRAAWEHMKK QKYGRIIMTS
160 170 180 190 200
SASGIYGNFG QANYSAAKLG LLGLANSLAI EGRKSNIHCN TIAPNAGSRM
210 220 230 240 250
TQTVMPEDLV EALKPEYVAP LVLWLCHESC EENGGLFEVG AGWIGKLRWE
260 270 280 290 300
RTLGAIVRQK NHPMTPEAVK ANWKKICDFE NASKPQSIQE STGSIIEVLS
310 320 330 340 350
KIDSEGGVSA NHTSRATSTA TSGFAGAIGQ KLPPFSYAYT ELEAIMYALG
360 370 380 390 400
VGASIKDPKD LKFIYEGSSD FSCLPTFGVI IGQKSMMGGG LAEIPGLSIN
410 420 430 440 450
FAKVLHGEQY LELYKPLPRA GKLKCEAVVA DVLDKGSGVV IIMDVYSYSE
460 470 480 490 500
KELICHNQFS LFLVGSGGFG GKRTSDKVKV AVAIPNRPPD AVLTDTTSLN
510 520 530 540 550
QAALYRLSGD WNPLHIDPNF ASLAGFDKPI LHGLCTFGFS ARRVLQQFAD
560 570 580 590 600
NDVSRFKAIK ARFAKPVYPG QTLQTEMWKE GNRIHFQTKV QETGDIVISN
610 620 630 640 650
AYVDLAPTSG TSAKTPSEGG KLQSTFVFEE IGRRLKDIGP EVVKKVNAVF
660 670 680 690 700
EWHITKGGNI GAKWTIDLKS GSGKVYQGPA KGAADTTIIL SDEDFMEVVL
710 720 730
GKLDPQKAFF SGRLKARGNI MLSQKLQMIL KDYAKL
Computationally mapped potential isoform sequencesi
There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7ET17 | E7ET17_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 599 | Annotation score: | ||
E7ER27 | E7ER27_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 500 | Annotation score: | ||
A0A2R8YD50 | A0A2R8YD50_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 711 | Annotation score: | ||
A0A2R8Y7L2 | A0A2R8Y7L2_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 589 | Annotation score: | ||
A0A2R8Y7W2 | A0A2R8Y7W2_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 105 | Annotation score: | ||
A0A2R8YDT8 | A0A2R8YDT8_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 166 | Annotation score: | ||
A0A2R8YF45 | A0A2R8YF45_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 172 | Annotation score: | ||
A0A2R8YEG2 | A0A2R8YEG2_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 59 | Annotation score: | ||
E7EPL9 | E7EPL9_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 474 | Annotation score: | ||
A0A2R8YF39 | A0A2R8YF39_HUMAN | Peroxisomal multifunctional enzyme ... | HSD17B4 | 50 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 587 | Q → R in BAG60363 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037576 | 16 | G → S in DBPD; no dehydrogenase activity. 2 PublicationsCorresponds to variant dbSNP:rs137853096EnsemblClinVar. | 1 | |
Natural variantiVAR_052309 | 90 | F → L. Corresponds to variant dbSNP:rs28943588EnsemblClinVar. | 1 | |
Natural variantiVAR_014872 | 106 | R → H2 PublicationsCorresponds to variant dbSNP:rs25640EnsemblClinVar. | 1 | |
Natural variantiVAR_065906 | 106 | R → P in DBPD. 1 PublicationCorresponds to variant dbSNP:rs25640EnsemblClinVar. | 1 | |
Natural variantiVAR_052310 | 140 | K → N. Corresponds to variant dbSNP:rs28943589EnsemblClinVar. | 1 | |
Natural variantiVAR_065907 | 217 | Y → C in PRLTS1. 1 PublicationCorresponds to variant dbSNP:rs387906825EnsemblClinVar. | 1 | |
Natural variantiVAR_024625 | 292 | T → S. Corresponds to variant dbSNP:rs1143650EnsemblClinVar. | 1 | |
Natural variantiVAR_052311 | 427 | A → V. Corresponds to variant dbSNP:rs28943590EnsemblClinVar. | 1 | |
Natural variantiVAR_065908 | 457 | N → Y in DBPD; the mutation leads to an unstable protein. 1 PublicationCorresponds to variant dbSNP:rs137853097EnsemblClinVar. | 1 | |
Natural variantiVAR_052312 | 491 | A → T. Corresponds to variant dbSNP:rs28943591EnsemblClinVar. | 1 | |
Natural variantiVAR_014873 | 511 | W → R1 PublicationCorresponds to variant dbSNP:rs11539471EnsemblClinVar. | 1 | |
Natural variantiVAR_014874 | 559 | I → V2 PublicationsCorresponds to variant dbSNP:rs11205EnsemblClinVar. | 1 | |
Natural variantiVAR_052313 | 606 | A → S. Corresponds to variant dbSNP:rs15228Ensembl. | 1 | |
Natural variantiVAR_052314 | 687 | T → I. Corresponds to variant dbSNP:rs28943592EnsemblClinVar. | 1 | |
Natural variantiVAR_052315 | 728 | M → V. Corresponds to variant dbSNP:rs28943594EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046152 | 1 – 38 | MGSPL…ALVVV → MVILEAPHLLRRKEPETPGL SSRIGPSLCPGFCRKRSVSC CFQNLCNNPMEKIISQCRFF VSM in isoform 2. 1 PublicationAdd BLAST | 38 | |
Alternative sequenceiVSP_046153 | 20 – 37 | Missing in isoform 3. 1 PublicationAdd BLAST | 18 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X87176 mRNA Translation: CAA60643.1 AF057740 , AF057720, AF057721, AF057722, AF057723, AF057724, AF057725, AF057726, AF057727, AF057728, AF057729, AF057730, AF057731, AF057732, AF057733, AF057734, AF057735, AF057736, AF057737, AF057738, AF057739 Genomic DNA Translation: AAD08652.1 AK298075 mRNA Translation: BAG60363.1 AK301212 mRNA Translation: BAG62787.1 AC024564 Genomic DNA No translation available. BC003098 mRNA Translation: AAH03098.1 |
CCDSi | CCDS4126.1 [P51659-1] CCDS56378.1 [P51659-3] CCDS56379.1 [P51659-2] |
PIRi | S59136 |
RefSeqi | NP_000405.1, NM_000414.3 [P51659-1] NP_001186220.1, NM_001199291.2 [P51659-2] NP_001186221.1, NM_001199292.1 [P51659-3] NP_001278956.1, NM_001292027.1 NP_001278957.1, NM_001292028.1 |
Genome annotation databases
Ensembli | ENST00000414835; ENSP00000411960; ENSG00000133835 [P51659-2] ENST00000510025; ENSP00000424940; ENSG00000133835 [P51659-1] ENST00000515320; ENSP00000424613; ENSG00000133835 [P51659-3] |
GeneIDi | 3295 |
KEGGi | hsa:3295 |
UCSCi | uc003ksj.4, human [P51659-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X87176 mRNA Translation: CAA60643.1 AF057740 , AF057720, AF057721, AF057722, AF057723, AF057724, AF057725, AF057726, AF057727, AF057728, AF057729, AF057730, AF057731, AF057732, AF057733, AF057734, AF057735, AF057736, AF057737, AF057738, AF057739 Genomic DNA Translation: AAD08652.1 AK298075 mRNA Translation: BAG60363.1 AK301212 mRNA Translation: BAG62787.1 AC024564 Genomic DNA No translation available. BC003098 mRNA Translation: AAH03098.1 |
CCDSi | CCDS4126.1 [P51659-1] CCDS56378.1 [P51659-3] CCDS56379.1 [P51659-2] |
PIRi | S59136 |
RefSeqi | NP_000405.1, NM_000414.3 [P51659-1] NP_001186220.1, NM_001199291.2 [P51659-2] NP_001186221.1, NM_001199292.1 [P51659-3] NP_001278956.1, NM_001292027.1 NP_001278957.1, NM_001292028.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1IKT | X-ray | 1.75 | A | 618-736 | [»] | |
1S9C | X-ray | 3.00 | A/B/C/D/E/F/G/H/I/J/K/L | 318-615 | [»] | |
1ZBQ | X-ray | 2.71 | A/B/C/D/E/F | 1-304 | [»] | |
SASBDBi | P51659 | |||||
SMRi | P51659 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109528, 96 interactors |
IntActi | P51659, 47 interactors |
MINTi | P51659 |
STRINGi | 9606.ENSP00000420914 |
Chemistry databases
ChEMBLi | CHEMBL5814 |
DrugBanki | DB03192, (R)-3-hydroxydecanoyl-CoA DB00157, NADH |
SwissLipidsi | SLP:000000540 |
PTM databases
iPTMneti | P51659 |
PhosphoSitePlusi | P51659 |
SwissPalmi | P51659 |
Genetic variation databases
BioMutai | HSD17B4 |
DMDMi | 1706396 |
Proteomic databases
CPTACi | CPTAC-389 CPTAC-390 |
EPDi | P51659 |
jPOSTi | P51659 |
MassIVEi | P51659 |
MaxQBi | P51659 |
PaxDbi | P51659 |
PeptideAtlasi | P51659 |
PRIDEi | P51659 |
ProteomicsDBi | 19165 27834 56360 [P51659-1] |
TopDownProteomicsi | P51659-1 [P51659-1] |
Protocols and materials databases
Antibodypediai | 13742, 393 antibodies |
DNASUi | 3295 |
Genome annotation databases
Ensembli | ENST00000414835; ENSP00000411960; ENSG00000133835 [P51659-2] ENST00000510025; ENSP00000424940; ENSG00000133835 [P51659-1] ENST00000515320; ENSP00000424613; ENSG00000133835 [P51659-3] |
GeneIDi | 3295 |
KEGGi | hsa:3295 |
UCSCi | uc003ksj.4, human [P51659-1] |
Organism-specific databases
CTDi | 3295 |
DisGeNETi | 3295 |
GeneCardsi | HSD17B4 |
GeneReviewsi | HSD17B4 |
HGNCi | HGNC:5213, HSD17B4 |
HPAi | ENSG00000133835, Low tissue specificity |
MalaCardsi | HSD17B4 |
MIMi | 233400, phenotype 261515, phenotype 601860, gene |
neXtProti | NX_P51659 |
OpenTargetsi | ENSG00000133835 |
Orphaneti | 300, Bifunctional enzyme deficiency 2855, Perrault syndrome |
PharmGKBi | PA29481 |
VEuPathDBi | HostDB:ENSG00000133835.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1206, Eukaryota |
GeneTreei | ENSGT00940000158343 |
HOGENOMi | CLU_010194_18_4_1 |
InParanoidi | P51659 |
OMAi | CTQAAFP |
PhylomeDBi | P51659 |
TreeFami | TF105656 |
Enzyme and pathway databases
UniPathwayi | UPA00659 |
BioCyci | MetaCyc:HS05792-MONOMER |
BRENDAi | 4.2.1.119, 2681 |
PathwayCommonsi | P51659 |
Reactomei | R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-2046106, alpha-linolenic acid (ALA) metabolism R-HSA-389887, Beta-oxidation of pristanoyl-CoA R-HSA-390247, Beta-oxidation of very long chain fatty acids R-HSA-9033241, Peroxisomal protein import R-HSA-9033500, TYSND1 cleaves peroxisomal proteins |
SABIO-RKi | P51659 |
Miscellaneous databases
BioGRID-ORCSi | 3295, 37 hits in 878 CRISPR screens |
ChiTaRSi | HSD17B4, human |
EvolutionaryTracei | P51659 |
GeneWikii | HSD17B4 |
GenomeRNAii | 3295 |
Pharosi | P51659, Tbio |
PROi | PR:P51659 |
RNActi | P51659, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000133835, Expressed in corpus callosum and 242 other tissues |
ExpressionAtlasi | P51659, baseline and differential |
Genevisiblei | P51659, HS |
Family and domain databases
Gene3Di | 3.30.1050.10, 1 hit |
InterProi | View protein in InterPro IPR029069, HotDog_dom_sf IPR002539, MaoC-like_dom IPR036291, NAD(P)-bd_dom_sf IPR020904, Sc_DH/Rdtase_CS IPR003033, SCP2_sterol-bd_dom IPR036527, SCP2_sterol-bd_dom_sf IPR002347, SDR_fam |
Pfami | View protein in Pfam PF00106, adh_short, 1 hit PF01575, MaoC_dehydratas, 1 hit PF02036, SCP2, 1 hit |
PRINTSi | PR00081, GDHRDH PR00080, SDRFAMILY |
SUPFAMi | SSF51735, SSF51735, 1 hit SSF54637, SSF54637, 2 hits SSF55718, SSF55718, 1 hit |
PROSITEi | View protein in PROSITE PS00061, ADH_SHORT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DHB4_HUMAN | |
Accessioni | P51659Primary (citable) accession number: P51659 Secondary accession number(s): B4DNV1 F5HE57 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 213 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: 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