• Gene id: 51144

Gene Summary

• Gene Symbol: HSD17B12   Gene   UCSC   Ensembl
• Aliases: KAR, SDR12C1
• Gene name: hydroxysteroid 17-beta dehydrogenase 12
• Alternate names: very-long-chain 3-oxoacyl-CoA reductase, 17-beta-HSD 12, 17-beta-hydroxysteroid dehydrogenase 12, 17beta-HSD type 12, 3-ketoacyl-CoA reductase, estradiol 17-beta-dehydrogenase 12, short chain dehydrogenase/reductase family 12C member 1, steroid dehydrogenase hom,
• Gene location: 11p11.2 (43576475: 43856616)     Exons: 17     NC_000011.10
• Gene summary(Entrez): This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]

Protein Summary

• Protein general information: Q53GQ0  
  • Name: Very long chain 3 oxoacyl CoA reductase (EC 1.1.1.330) (17 beta hydroxysteroid dehydrogenase 12) (17 beta HSD 12) (3 ketoacyl CoA reductase) (KAR) (Estradiol 17 beta dehydrogenase 12) (EC 1.1.1.62) (Short chain dehydrogenase/reductase family 12C member 1)
  • Length: 312  
  • Mass: 34324
  • Tissue specificity: Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets. {ECO
• Sequence:

  MESALPAAGFLYWVGAGTVAYLALRISYSLFTALRVWGVGNEAGVGPGLGEWAVVTGSTDGIGKSYAEELAKHGM
  KVVLISRSKDKLDQVSSEIKEKFKVETRTIAVDFASEDIYDKIKTGLAGLEIGILVNNVGMSYEYPEYFLDVPDL
  DNVIKKMININILSVCKMTQLVLPGMVERSKGAILNISSGSGMLPVPLLTIYSATKTFVDFFSQCLHEEYRSKGV
  FVQSVLPYFVATKLAKIRKPTLDKPSPETFVKSAIKTVGLQSRTNGYLIHALMGSIISNLPSWIYLKIVMNMNKS
  TRAHYLKKTKKN

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • STRING: ENSP00000278353
• Other Databases: GeneCards:  HSD17B12  Malacards:  HSD17B12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0102340	3-oxo-behenoyl-CoA reductase activity	IEA	molecular function
GO:0102339	3-oxo-arachidoyl-CoA reductase activity	IEA	molecular function
GO:0102342	3-oxo-cerotoyl-CoA reductase activity	IEA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0102341	3-oxo-lignoceroyl-CoA reductase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031012	extracellular matrix	IEA	cellular component
GO:0010811	positive regulation of cell-substrate adhesion	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0005518	collagen binding	IEA	molecular function
GO:0001968	fibronectin binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006703	estrogen biosynthetic process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa00140	Steroid hormone biosynthesis
hsa01040	Biosynthesis of unsaturated fatty acids
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray