HSD17B12 - hydroxysteroid 17-beta dehydrogenase 12 Gene

Also Known as KAR; SDR12C1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51144

About HSD17B12

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:43,556,721-43,856,615 (from NCBI)

This gene has 14 transcripts (splice variants), 281 orthologues and 25 paralogues. Ubiquitous expression in brain (RPKM 34.2), kidney (RPKM 34.0) and 25 other tissues.

Summary

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]

HSD17B12 Products (1)

mRNA Protein Name
NM_016142.3 NP_057226.1 very-long-chain 3-oxoacyl-CoA reductase

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20937905 GOA
enables very-long-chain 3-oxoacyl-CoA reductase activity EXP
EXP: Inferred from Experiment
12482854 GOA
enables very-long-chain 3-oxoacyl-CoA reductase activity IDA
IDA: Inferred from direct assay
12482854 GOA
Biological Process GO Annotation Evidence References Source
involved in fatty acid elongation, saturated fatty acid IDA
IDA: Inferred from direct assay
25003994 GOA
Cellular Component GO Annotation Evidence References Source
part of fatty acid elongase complex IDA
IDA: Inferred from direct assay
25003994 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSD17B12 Protein Structure

adh_short

adh_short: short chain dehydrogenase (52 - 220)

  • 0
  • 100
  • 200
  • 312 a.a.
Protein Preferred Names Protein Names

very-long-chain 3-oxoacyl-CoA reductase

  • 17-beta-HSD 12

HSD17B12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HSD17B12 Q53GQ0 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra
HSD17B12 Q53GQ0 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra
HSD17B12 Q53GQ0 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra
HSD17B12 Q53GQ0 HRAS Homo sapiens P01112
Y2H Array
32814053
Intra
HSD17B12 Q53GQ0 HRAS Homo sapiens P01112
Validated Y2H
32814053
Intra
HSD17B12 Q53GQ0 HRAS Homo sapiens P01112
Y2H Pooling
32814053
Intra
HSD17B12 Q53GQ0 GSN Homo sapiens P06396
Y2H Pooling
32814053
Intra
HSD17B12 Q53GQ0 GSN Homo sapiens P06396
Validated Y2H
32814053
Intra
HSD17B12 Q53GQ0 GSN Homo sapiens P06396
Y2H Array
32814053
Intra
HSD17B12 Q53GQ0 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
25416956
Intra
HSD17B12 Q53GQ0 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
25416956
Intra
HSD17B12 Q53GQ0 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra
HSD17B12 Q53GQ0 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra
HSD17B12 Q53GQ0 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Cross
HSD17B12 Q53GQ0 Q9WMX2-PRO_0000037541 Hepatitis C virus Q9WMX2-PRO_0000037541
Pull Down
24169621
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cervical Neuroblastoma
Qualitative Platelet Defect

  • Qualitative Platelet Defects

  • Qualitative Platelet Deficiency

  • Thrombocytopathy

  • Platelet Defect

  • Platelet Disorder

  • Thrombopathy

  • Platelet Granule Defect

  • Thrombocytasthenia

  • Thromboasthenia

  • Dystrophic Thrombocytopathy

  • Haemorrhagic Thrombasthenia

  • Granulopenic Thrombocytopathy
Extracranial Neuroblastoma
Congenital Central Hypoventilation Syndrome

  • Cchs

  • Haddad Syndrome

  • Ondine Curse

  • Ondine Syndrome

  • Congenital Central Hypoventilation

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Congenital Failure Of Autonomic Control

  • Ondine'S Curse

  • Primary Alveolar Hypoventilation

  • Ondine-Hirschsprung Disease

  • Central Congenital Hypoventilation Syndrome

  • Congenital Ondine Curse

  • Idiopathic Congenital Central Alveolar Hypoventilation

  • Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

  • Ondine-Hirschsprung Syndrome
Polycystic Kidney Disease

  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06392 HSD17B12 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20666 Hsd17b12 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27177 Hsd17b12 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta HSD17B12 VGNC VGNC:73416
Bos taurus HSD17B12 VGNC VGNC:54883
Felis catus HSD17B12 VGNC VGNC:62847
Rattus norvegicus HSD17B12 RGD RGD:708367
Mus musculus HSD17B12 MGD MGI:1926967
Canis familiaris HSD17B12 VGNC VGNC:41802
Others HSD17B12 NCBI