HSD17B7 - hydroxysteroid 17-beta dehydrogenase 7 Gene

Also Known as PRAP; SDR37C1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51478

About HSD17B7

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:162,790,702-162,812,823 (from NCBI)

This gene has 10 transcripts (splice variants), 247 orthologues and 25 paralogues. Ubiquitous expression in adrenal (RPKM 6.0), lymph node (RPKM 4.5) and 25 other tissues.

Summary

HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex Steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of Cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]

HSD17B7 Products (3)

mRNA Protein Name
NM_001304512.2 NP_001291441.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 2
NM_001304513.2 NP_001291442.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 3
NM_016371.4 NP_057455.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables 3-keto sterol reductase activity IDA
IDA: Inferred from direct assay
12829805 GOA
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IDA
IDA: Inferred from direct assay
12732193 GOA
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IDA
IDA: Inferred from direct assay
12732193 GOA
Biological Process GO Annotation Evidence References Source
involved in androgen metabolic process IDA
IDA: Inferred from direct assay
12732193 GOA
involved in cholesterol biosynthetic process IDA
IDA: Inferred from direct assay
12829805 GOA
involved in estrogen biosynthetic process IDA
IDA: Inferred from direct assay
12732193 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
12829805 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

HSD17B7 Protein Structure

adh_short

adh_short: short chain dehydrogenase (3 - 155)

  • 0
  • 100
  • 200
  • 300
  • 341 a.a.
Protein Preferred Names Protein Names

3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7

  • 17 beta-hydroxysteroid dehydrogenase type VII

Related Diseases

Diseases Alias
Ck Syndrome

  • CKS

  • X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome

  • Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

  • Child Syndrome

  • Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs

  • Child Nevus

  • Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects

  • Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects

  • Ichthyosis, Child Syndrome

  • Child Syndrome Ichthyosis

  • CHILD
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 (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06399 HSD17B7 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W749520 Zymosterone / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus HSD17B7 VGNC VGNC:67660
Rattus norvegicus HSD17B7 RGD RGD:2837
Mus musculus HSD17B7 MGD MGI:1330808
Bos taurus HSD17B7 VGNC VGNC:29976
Canis familiaris HSD17B7 VGNC VGNC:41809
Others HSD17B7 NCBI