KEGG   Homo sapiens (human): 3295
Entry
3295              CDS       T01001                                 

Gene name
HSD17B4, DBP, MFE-2, MFP-2, MPF-2, PRLTS1, SDR8C1
Definition
(RefSeq) hydroxysteroid 17-beta dehydrogenase 4
  KO
K12405  (3R)-3-hydroxyacyl-CoA dehydrogenase / 3a,7a,12a-trihydroxy-5b-cholest-24-enoyl-CoA hydratase / enoyl-CoA hydratase 2 [EC:1.1.1.- 4.2.1.107 4.2.1.119]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00120  Primary bile acid biosynthesis
hsa01040  Biosynthesis of unsaturated fatty acids
hsa01100  Metabolic pathways
hsa01212  Fatty acid metabolism
hsa04146  Peroxisome
Module
hsa_M00104  Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate
hsa_M00861  beta-Oxidation, peroxisome, VLCFA
hsa_M00862  beta-Oxidation, peroxisome, tri/dihydroxycholestanoyl-CoA => choloyl/chenodeoxycholoyl-CoA
Network
nt06021  beta-Oxidation in peroxisome
nt06022  Bile acid biosynthesis
  Element
N00776  beta-Oxidation, peroxisome, VLCFA
N00777  HSD17B4 deficiency in beta-oxidation
N00779  beta-Oxidation, peroxisome, bile acid
N00780  SCP2 deficiency in beta-oxidation
N00802  HSD17B4 deficiency in beta-oxidation
N00805  Bile acid biosynthesis
Disease
H00407  Peroxisomal beta-oxidation enzyme deficiency
H02095  Perrault syndrome
H02098  D-bifunctional protein deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00120 Primary bile acid biosynthesis
    3295 (HSD17B4)
   01040 Biosynthesis of unsaturated fatty acids
    3295 (HSD17B4)
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    3295 (HSD17B4)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.-  
     3295 (HSD17B4)
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.107  3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase
     3295 (HSD17B4)
    4.2.1.119  enoyl-CoA hydratase 2
     3295 (HSD17B4)
SSDB
Motif
Pfam: MaoC_dehydratas adh_short adh_short_C2 SCP2 KR Alkyl_sulf_C MaoC_dehydrat_N AbrB-like
Other DBs
NCBI-GeneID: 3295
NCBI-ProteinID: NP_000405
OMIM: 601860
HGNC: 5213
Ensembl: ENSG00000133835
Vega: OTTHUMG00000128899
Pharos: P51659(Tbio)
UniProt: P51659 A0A0S2Z4J1 B2R659
LinkDB
Structure
PDB: 
1IKT 1ZBQ 1S9C

Position
5q23.1
AA seq 736 aa
MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVE
EIRRRGGKAVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIH
RVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAI
EGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLVLWLCHESCEENGGLFEVG
AGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFENASKPQSIQESTGSIIEVLS
KIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALGVGASIKDPKD
LKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRA
GKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRTSDKVKV
AVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILHGLCTFGFS
ARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISN
AYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRLKDIGPEVVKKVNAVFEWHITKGGNI
GAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVLGKLDPQKAFFSGRLKARGNI
MLSQKLQMILKDYAKL
NT seq 2211 nt   +upstreamnt  +downstreamnt
atgggctcaccgctgaggttcgacgggcgggtggtactggtcaccggcgcgggggcagga
ttgggccgagcctatgccctggcttttgcagaaagaggagcgttagttgttgtgaatgat
ttgggaggggacttcaaaggagttggtaaaggctccttagctgctgataaggttgttgaa
gaaataagaaggagaggtggaaaagcagtggccaactatgattcagtggaagaaggagag
aaggttgtgaagacagccctggatgcttttggaagaatagatgttgtggtcaacaatgct
ggaattctgagggatcgttcctttgctaggataagtgatgaagactgggatataatccac
agagttcatttgcggggttcattccaagtgacacgggcagcatgggaacacatgaagaaa
cagaagtatggaaggattattatgacttcatcagcttcaggaatatatggcaactttggc
caggccaattatagtgctgcaaagttgggtcttctgggccttgcaaattctcttgcaatt
gaaggcaggaaaagcaacattcattgtaacaccattgctcctaatgcgggatcacggatg
actcagacagttatgcctgaagatcttgtggaagccctgaagccagagtatgtggcacct
cttgtcctttggctttgtcacgagagttgtgaggagaatggtggcttgtttgaggttgga
gcaggatggattggaaaattacgctgggagcggactcttggagctattgtaagacaaaag
aatcacccaatgactcctgaggcagtcaaggctaactggaagaagatctgtgactttgag
aatgccagcaagcctcagagtatccaagaatcaactggcagtataattgaagttctgagt
aaaatagattcagaaggaggagtttcagcaaatcatactagtcgtgcaacgtctacagca
acatcaggatttgctggagctattggccagaaactccctccattttcttatgcttatacg
gaactggaagctattatgtatgcccttggagtgggagcgtcaatcaaggatccaaaagat
ttgaaatttatttatgaaggaagttctgatttctcctgtttgcccaccttcggagttatc
ataggtcagaaatctatgatgggtggaggattagcagaaattcctggactttcaatcaac
tttgcaaaggttcttcatggagagcagtacttagagttatataaaccacttcccagagca
ggaaaattaaaatgtgaagcagttgttgctgatgtcctagataaaggatccggtgtagtg
attattatggatgtctattcttattctgagaaggaacttatatgccacaatcagttctct
ctctttcttgttggctctggaggctttggtggaaaacggacatcagacaaagtcaaggta
gctgtagccatacctaatagacctcctgatgctgtacttacagataccacctctcttaat
caggctgctttgtaccgcctcagtggagactggaatcccttacacattgatcctaacttt
gctagtctagcaggttttgacaagcccatattacatggattatgtacatttggattttct
gccaggcgtgtgttacagcagtttgcagataatgatgtgtcaagattcaaggcaattaag
gctcgttttgcaaaaccagtatatccaggacaaactctacaaactgagatgtggaaggaa
ggaaacagaattcattttcaaaccaaggtccaagaaactggagacattgtcatttcaaat
gcatatgtggatcttgcaccaacatctggtacttcagctaagacaccctctgagggcggg
aagcttcagagtacctttgtatttgaggaaataggacgccgcctaaaggatattgggcct
gaggtggtgaagaaagtaaatgctgtatttgagtggcatataaccaaaggcggaaatatt
ggggctaagtggactattgacctgaaaagtggttctggaaaagtgtaccaaggccctgca
aaaggtgctgctgatacaacaatcatactttcagatgaagatttcatggaggtggtcctg
ggcaagcttgaccctcagaaggcattctttagtggcaggctgaaggccagagggaacatc
atgctgagccagaaacttcagatgattcttaaagactacgccaagctctga

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