HSD17B4
entrez
3295
canonical
uniprot
P51659
canonical
ensembl
ENSG00000133835
resolver
ensp
ENSP00000411960
resolver
ensp
ENSP00000424613
resolver
ensp
ENSP00000424940
resolver
ensp
ENSP00000425993
resolver
ensp
ENSP00000496091
resolver
ensp
ENSP00000507792
resolver
enst
ENST00000513628
resolver
enst
ENST00000645099
resolver
enst
ENST00000682996
resolver
genesymbol
HSD17B4
resolver
genesymbol_syn
EDH17B4
resolver
genesymbol_syn
SDR8C1
resolver
hgnc
HGNC:5213
resolver
uniprot
A0A0S2Z4J1
resolver
uniprot
A0A2R8Y7L2
resolver
uniprot
A0A804HK65
resolver
uniprot
B2R659
resolver
uniprot
B3KSP2
resolver
uniprot
B4DNV1
resolver
uniprot
B4DVS5
resolver
uniprot
E7ET17
resolver
uniprot
E9PB82
resolver
uniprot
F5HE57
resolver
uniprot_entry
A0A0S2Z4J1_HUMAN
resolver
uniprot_entry
A0A2R8Y7L2_HUMAN
resolver
uniprot_entry
A0A804HK65_HUMAN
resolver
uniprot_entry
B2R659_HUMAN
resolver
uniprot_entry
B3KSP2_HUMAN
resolver
uniprot_entry
DHB4_HUMAN
resolver
uniprot_entry
E7ET17_HUMAN
resolver
uniprot_sec
B4DNV1
resolver
uniprot_sec
B4DVS5
resolver
uniprot_sec
E9PB82
resolver
uniprot_sec
F5HE57
resolver
amino_acid_sequence
MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVEEIRRRGGKAVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIHRVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAIEGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLVLWLCHESCEENGGLFEVGAGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFENASKPQSIQESTGSIIEVLSKIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALGVGASIKDPKDLKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRAGKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRTSDKVKVAVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILHGLCTFGFSARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISNAYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRLKDIGPEVVKKVNAVFEWHITKGGNIGAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVLGKLDPQKAFFSGRLKARGNIMLSQKLQMILKDYAKL
uniprot
proteins
disease_involvement
DISEASE: D-bifunctional protein deficiency (DBPD) [MIM:261515]: Disorder of peroxisomal fatty acid beta-oxidation. {ECO:0000269|PubMed:10400999, ECO:0000269|PubMed:10671535, ECO:0000269|PubMed:11743515, ECO:0000269|PubMed:9482850}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Perrault syndrome 1 (PRLTS1) [MIM:233400]: An autosomal recessive, 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 intellectual disability and cerebellar and peripheral nervous system involvement. {ECO:0000269|PubMed:20673864}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.n12
uniprot
proteins
ec_number
4.2.1.107
uniprot
proteins
ec_number
4.2.1.119
uniprot
proteins
function
FUNCTION: Bifunctional enzyme acting on the peroxisomal fatty acid beta-oxidation pathway. Catalyzes two of the four reactions in fatty acid degradation: hydration of 2-enoyl-CoA (trans-2-enoyl-CoA) to produce (3R)-3-hydroxyacyl-CoA, and dehydrogenation of (3R)-3-hydroxyacyl-CoA to produce 3-ketoacyl-CoA (3-oxoacyl-CoA), which is further metabolized by SCPx. Can use straight-chain and branched-chain fatty acids, as well as bile acid intermediates as substrates. May play a role in peroxisomal beta-oxidation step in polyunsaturated fatty acids (PUFAs) biosynthesis. Possibly regulates systemic levels of docosahexaenoic acid (DHA, C22:6n-3) through a process involving endoplasmic reticulum desaturation and elongation of alpha-linolenic acid (ALA, C18:3n-3) to form tetracosahexaenoic acid (THA, C24:6n-3), which is then beta-oxidized to DHA in peroxisomes. {ECO:0000269|PubMed:10671535, ECO:0000269|PubMed:10706581, ECO:0000269|PubMed:15060085, ECO:0000269|PubMed:8902629, ECO:0000269|PubMed:9089413, ECO:0000269|PubMed:9482850, ECO:0000303|PubMed:10903473, ECO:0000303|PubMed:35951481, ECO:0000303|PubMed:7685190, ECO:0000305|PubMed:11734571}.
uniprot
proteins
mass_dalton
79686
uniprot
proteins
mutagenesis
MUTAGEN 347; /note="Y->A: No hydratase activity."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 366; /note="E->A: No hydratase activity."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 370; /note="D->A: No effect."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 406; /note="H->A: No effect."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 408; /note="E->A: No effect."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 410; /note="Y->A: No effect."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 490; /note="D->A: No effect."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 505; /note="Y->A: Completely inactive."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 510; /note="D->A: No hydratase activity."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 515; /note="H->A: Completely inactive."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 517; /note="D->A: No effect."; /evidence="ECO:0000269|PubMed:10671535"; MUTAGEN 532; /note="H->A: No effect."; /evidence="ECO:0000269|PubMed:10671535
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid beta-oxidation. {ECO:0000269|PubMed:10706581, ECO:0000269|PubMed:15060085, ECO:0000269|PubMed:9089413, ECO:0000269|PubMed:9482850, ECO:0000305|PubMed:11734571}.
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
10400999
uniprot
proteins
pubmed
10671535
uniprot
proteins
pubmed
10706581
uniprot
proteins
pubmed
10903473
uniprot
proteins
pubmed
11700068
uniprot
proteins
pubmed
11734571
uniprot
proteins
pubmed
11743515
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15060085
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15644212
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20673864
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25956234
uniprot
proteins
pubmed
35951481
uniprot
proteins
pubmed
7487879
uniprot
proteins
pubmed
7685190
uniprot
proteins
pubmed
8902629
uniprot
proteins
pubmed
9089413
uniprot
proteins
pubmed
9482850
uniprot
proteins
pubmed
9880674
uniprot
proteins
sequence_length
736
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome {ECO:0000305}.
uniprot
proteins