HSD17B7 - hydroxysteroid 17-beta dehydrogenase 7 Gene

Homo sapiens

Also known as PRAP; SDR37C1

Gene ID: 51478 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06399	HSD17B7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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