UniProt:Q7Z5P4 HSD17B13

chain
  • signal peptide:1-19
  • chain:20-300
checksum 5B85778554265DFE
comment
  • FUNCTION Plays a pivotal role in hepatic lipid metabolism (PubMed:29562163). In vitro, it catalyzes the oxidation of a variety of lipid substrates, including 17beta-estradiol, retinol, retinal, and leukotriene B4 (PubMed:29562163, PubMed:30415504, PubMed:32973038).FUNCTION Has retinol/retinal dehydrogenase activity in vitro.FUNCTION Does not have retinol/retinal dehydrogenase activity in vitro.CATALYTIC ACTIVITY 17beta-estradiol + NAD(+) = estrone + NADH + H(+)CATALYTIC ACTIVITY all-trans-retinol + NAD(+) = all-trans-retinal + NADH + H(+)CATALYTIC ACTIVITY all-trans-retinal + NAD(+) + H2O = all-trans-retinoate + NADH + 2 H(+)BIOPHYSICOCHEMICAL PROPERTIES Redistributed from the endoplasmic reticulum to lipids droplets in the cell upon induction of lipids droplet formation.SUBCELLULAR LOCATION Does not localize to lipid droplets.ALTERNATIVE PRODUCTS Highly expressed in the liver (PubMed:29562163). Also detected in ovary, bone marrow, kidney, brain, lung, skeletal muscle, bladder and testis.POLYMORPHISM The insertion of an adenine adjacent to the donor splice site of exon 6 (dbSNP:rs72613567) is associated with reduced risk of non-alcoholic fatty liver disease and protection from chronic liver disease [MIM:620116]. It is also associated with reduced risk of hepatocellular carcinoma (PubMed:29562163, PubMed:34930143). Variant rs72613567 alters mRNA splicing and results in the synthesis of a truncated, unstable protein. Liver samples from variant carriers contain reduced levels of isoform 1 and isoform 2 transcripts (PubMed:29562163).SIMILARITY Belongs to the short-chain dehydrogenases/reductases (SDR) family.
databaseName UniProt
dbId 226924
description
  • recommendedName: fullName evidence="14"17-beta-hydroxysteroid dehydrogenase 13 shortName: 17-beta-HSD 13 ecNumber evidence="6"1.1.1.- ecNumber evidence="6"1.1.1.62 alternativeName: fullName evidence="17"Hepatic retinol/retinal dehydrogenase ecNumber evidence="7 8"1.1.1.105 alternativeName: Short chain dehydrogenase/reductase family 16C member 3 alternativeName: fullName evidence="12"Short-chain dehydrogenase/reductase 9
displayName UniProt:Q7Z5P4 HSD17B13
geneName
  • HSD17B13
  • SCDR9
  • SDR16C3
  • HMFN0376
  • UNQ497/PRO1014
identifier Q7Z5P4
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Endoplasmic reticulum
  • Lipid droplet
  • Lipid metabolism
  • NAD
  • Oxidoreductase
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Signal
moleculeType Protein
name
  • HSD17B13
otherIdentifier
  • 11732540_a_at
  • 11732541_a_at
  • 11738831_x_at
  • 16977810
  • 2777045
  • 2777046
  • 2777047
  • 2777048
  • 2777050
  • 2777051
  • 2777052
  • 2777053
  • 2777054
  • 2777055
  • 2777058
  • 2777060
  • 2777061
  • 345275
  • 8101637
  • A_24_P362969
  • GE517709
  • GO:0004303
  • GO:0004745
  • GO:0005515
  • GO:0005737
  • GO:0005783
  • GO:0005811
  • GO:0005829
  • GO:0006629
  • GO:0016229
  • GO:0016491
  • GO:0016616
  • GO:0043226
  • GO:0046889
  • HMNXSV003026120
  • ILMN_1683844
  • ILMN_2204576
  • PH_hs_0023472
  • TC04002944.hg
  • p33560
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • DHB13_HUMAN
  • A8K9R9
  • Q2M1L5
  • Q86W22
  • Q86W23
sequenceLength 300
stId uniprot:Q7Z5P4

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