Peroxisomal multifunctional enzyme type 2

Details

Name
Peroxisomal multifunctional enzyme type 2
Synonyms
  • 17-beta-HSD 4
  • 17-beta-hydroxysteroid dehydrogenase 4
  • D-bifunctional protein
  • DBP
  • EDH17B4
  • MFE-2
  • MPF-2
  • Multifunctional protein 2
  • SDR8C1
  • Short chain dehydrogenase/reductase family 8C member 1
Gene Name
HSD17B4
Organism
Humans
Amino acid sequence
>lcl|BSEQ0037011|Peroxisomal multifunctional enzyme type 2
MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVE
EIRRRGGKAVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIH
RVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAI
EGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLVLWLCHESCEENGGLFEVG
AGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFENASKPQSIQESTGSIIEVLS
KIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALGVGASIKDPKD
LKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRA
GKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRTSDKVKV
AVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILHGLCTFGFS
ARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISN
AYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRLKDIGPEVVKKVNAVFEWHITKGGNI
GAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVLGKLDPQKAFFSGRLKARGNI
MLSQKLQMILKDYAKL
Number of residues
736
Molecular Weight
79685.715
Theoretical pI
9.21
GO Classification
Functions
17-beta-hydroxysteroid dehydrogenase (NAD+) activity / 3-hydroxyacyl-CoA dehydrogenase activity / 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity / isomerase activity / long-chain-enoyl-CoA hydratase activity / protein homodimerization activity / receptor binding
Processes
alpha-linolenic acid metabolic process / androgen metabolic process / bile acid biosynthetic process / bile acid metabolic process / cellular lipid metabolic process / estrogen metabolic process / fatty acid beta-oxidation / fatty acid beta-oxidation using acyl-CoA oxidase / medium-chain fatty-acyl-CoA metabolic process / osteoblast differentiation / oxidation-reduction process / Sertoli cell development / small molecule metabolic process / unsaturated fatty acid metabolic process / very long-chain fatty acid metabolic process / very long-chain fatty-acyl-CoA metabolic process
Components
intracellular membrane-bounded organelle / membrane / mitochondrion / peroxisomal matrix / peroxisomal membrane / peroxisome
General Function
Receptor binding
Specific Function
Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Peroxisome
Gene sequence
>lcl|BSEQ0010284|Peroxisomal multifunctional enzyme type 2 (HSD17B4)
ATGGTTATTCTTGAGGCACCGCATCTCTTGAGGAGGAAAGAGCCGGAAACACCTGGTCTC
TCAAGCAGGATTGGGCCGAGCCTATGCCCTGGCTTTTGCAGAAAGAGGAGCGTTAGTTGT
TGCTTTCAAAATCTATGCAATAACCCTATGGAGAAGATCATTTCACAATGCAGATTCTTT
GTTTCAATGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCT
GATAAGGTTGTTGAAGAAATAAGAAGGAGAGGTGGAAAAGCAGTGGCCAACTATGATTCA
GTGGAAGAAGGAGAGAAGGTTGTGAAGACAGCCCTGGATGCTTTTGGAAGAATAGATGTT
GTGGTCAACAATGCTGGAATTCTGAGGGATCGTTCCTTTGCTAGGATAAGTGATGAAGAC
TGGGATATAATCCACAGAGTTCATTTGCGGGGTTCATTCCAAGTGACACGGGCAGCATGG
GAACACATGAAGAAACAGAAGTATGGAAGGATTATTATGACTTCATCAGCTTCAGGAATA
TATGGCAACTTTGGCCAGGCCAATTATAGTGCTGCAAAGTTGGGTCTTCTGGGCCTTGCA
AATTCTCTTGCAATTGAAGGCAGGAAAAGCAACATTCATTGTAACACCATTGCTCCTAAT
GCGGGATCACGGATGACTCAGACAGTTATGCCTGAAGATCTTGTGGAAGCCCTGAAGCCA
GAGTATGTGGCACCTCTTGTCCTTTGGCTTTGTCACGAGAGTTGTGAGGAGAATGGTGGC
TTGTTTGAGGTTGGAGCAGGATGGATTGGAAAATTACGCTGGGAGCGGACTCTTGGAGCT
ATTGTAAGACAAAAGAATCACCCAATGACTCCTGAGGCAGTCAAGGCTAACTGGAAGAAG
ATCTGTGACTTTGAGAATGCCAGCAAGCCTCAGAGTATCCAAGAATCAACTGGCAGTATA
ATTGAAGTTCTGAGTAAAATAGATTCAGAAGGAGGAGTTTCAGCAAATCATACTAGTCGT
GCAACGTCTACAGCAACATCAGGATTTGCTGGAGCTATTGGCCAGAAACTCCCTCCATTT
TCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATC
AAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCC
ACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCT
GGACTTTCAATCAACTTTGCAAAGGTTCTTCATGGAGAGCAGTACTTAGAGTTATATAAA
CCACTTCCCAGAGCAGGAAAATTAAAATGTGAAGCAGTTGTTGCTGATGTCCTAGATAAA
GGATCCGGTGTAGTGATTATTATGGATGTCTATTCTTATTCTGAGAAGGAACTTATATGC
CACAATCAGTTCTCTCTCTTTCTTGTTGGCTCTGGAGGCTTTGGTGGAAAACGGACATCA
GACAAAGTCAAGGTAGCTGTAGCCATACCTAATAGACCTCCTGATGCTGTACTTACAGAT
ACCACCTCTCTTAATCAGGCTGCTTTGTACCGCCTCAGTGGAGACTGGAATCCCTTACAC
ATTGATCCTAACTTTGCTAGTCTAGCAGGTTTTGACAAGCCCATATTACATGGATTATGT
ACATTTGGATTTTCTGCCAGGCGTGTGTTACAGCAGTTTGCAGATAATGATGTGTCAAGA
TTCAAGGCAATTAAGGCTCGTTTTGCAAAACCAGTATATCCAGGACAAACTCTACAAACT
GAGATGTGGAAGGAAGGAAACAGAATTCATTTTCAAACCAAGGTCCAAGAAACTGGAGAC
ATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACA
CCCTCTGAGGGCGGGAAGCTTCAGAGTACCTTTGTATTTGAGGAAATAGGACGCCGCCTA
AAGGATATTGGGCCTGAGGTGGTGAAGAAAGTAAATGCTGTATTTGAGTGGCATATAACC
AAAGGCGGAAATATTGGGGCTAAGTGGACTATTGACCTGAAAAGTGGTTCTGGAAAAGTG
TACCAAGGCCCTGCAAAAGGTGCTGCTGATACAACAATCATACTTTCAGATGAAGATTTC
ATGGAGGTGGTCCTGGGCAAGCTTGACCCTCAGAAGGCATTCTTTAGTGGCAGGCTGAAG
GCCAGAGGGAACATCATGCTGAGCCAGAAACTTCAGATGATTCTTAAAGACTACGCCAAG
CTCTGA
Chromosome Location
5
Locus
5q21
External Identifiers
ResourceLink
UniProtKB IDP51659
UniProtKB Entry NameDHB4_HUMAN
GenBank Protein ID1050517
GenBank Gene IDX87176
GenAtlas IDHSD17B4
HGNC IDHGNC:5213
General References
  1. Adamski J, Normand T, Leenders F, Monte D, Begue A, Stehelin D, Jungblut PW, de Launoit Y: Molecular cloning of a novel widely expressed human 80 kDa 17 beta-hydroxysteroid dehydrogenase IV. Biochem J. 1995 Oct 15;311 ( Pt 2):437-43. [Article]
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  7. Jiang LL, Kobayashi A, Matsuura H, Fukushima H, Hashimoto T: Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. J Biochem. 1996 Sep;120(3):624-32. [Article]
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  16. Koski KM, Haapalainen AM, Hiltunen JK, Glumoff T: Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2. J Mol Biol. 2005 Feb 4;345(5):1157-69. Epub 2004 Dec 10. [Article]
  17. van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ: Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33. [Article]
  18. van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ: Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. Hum Mol Genet. 1999 Aug;8(8):1509-16. [Article]
  19. Nakano K, Zhang Z, Shimozawa N, Kondo N, Ishii N, Funatsuka M, Shirakawa S, Itoh M, Takashima S, Une M, Kana-aki RR, Mukai K, Osawa M, Suzuki Y: D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. J Pediatr. 2001 Dec;139(6):865-7. [Article]
  20. Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC: Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul 30. [Article]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00157NADHapproved, nutraceuticalunknownDetails
DB03192(R)-3-hydroxydecanoyl-CoAexperimentalunknownDetails