Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

3295

Name

HSD17B4

Synonym

DBP|MFE-2|MPF-2|PRLTS1|SDR8C1;hydroxysteroid (17-beta) dehydrogenase 4;HSD17B4;hydroxysteroid (17-beta) dehydrogenase 4

Definition

17-beta-HSD 4|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|17beta-estradiol dehydrogenase type IV|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|D-3-hydroxyacyl-CoA dehydratase|D-bifunctional protein, peroxisomal|beta-h

Position

5q21

Gene Type

protein-coding

PAH Type

Description

PAH

Personal communication to Dr. Eric D. Austin.
More detail of all Human literatures about HSD17B4

Pathways and Diseases

Pathway

Primary bile acid biosynthesis;KEGG PATHWAY;hsa00120

Pathway

Beta-oxidation of pristanoyl-CoA;PID Reactome;500820

Pathway

mechanism of gene regulation by peroxisome proliferators via ppara;PID BioCarta;100066

Pathway

Metabolic pathways;KEGG PATHWAY;hsa01100

Pathway

Metabolism of lipids and lipoproteins;Reactome;REACT:22258

Pathway

Peroxisome;KEGG PATHWAY;hsa04146

Pathway

Beta-oxidation of very long chain fatty acids;PID Reactome;500821

Pathway

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;PID Reactome;500828

Pathway

Peroxisomal lipid metabolism;PID Reactome;500818

Disease

Peroxisomal beta-oxidation enzyme deficiency;KEGG DISEASE;H00407

Disease

Peroxisomal diseases;KEGG DISEASE

Disease

Congenital abnormality;FunDO

Disease

Genetic disorders;KEGG DISEASE

Disease

D-bifunctional protein deficiency;OMIM

External Links

Links to Entrez Gene

3295

Links to all GeneRIF Items

3295

Links to iHOP

3295

Sequence Information

Nucleotide Sequence

>3295 : length: 2211
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

Protein Sequence

>3295 : length: 736
MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVE
EIRRRGGKAVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIH
RVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAI
EGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLVLWLCHESCEENGGLFEVG
AGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFENASKPQSIQESTGSIIEVLS
KIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALGVGASIKDPKD
LKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRA
GKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRTSDKVKV
AVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILHGLCTFGFS
ARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISN
AYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRLKDIGPEVVKKVNAVFEWHITKGGNI
GAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVLGKLDPQKAFFSGRLKARGNI
MLSQKLQMILKDYAKL



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