HSD17B1 - hydroxysteroid 17-beta dehydrogenase 1 Gene

Homo sapiens

Also known as E2DH; HSD17; EDHB17; EDH17B2; SDR28C1; 17-beta-HSD; 20-alpha-HSD

Gene ID: 3292 | Gene type: protein coding

About HSD17B1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,552,923-42,555,214 (from NCBI)

This gene has 5 transcripts (splice variants), 186 orthologues and 25 paralogues. Biased expression in placenta (RPKM 41.1), fat (RPKM 4.7) and 11 other tissues.

Summary

This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate Cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

HSD17B1 Products(2)

mRNA	Protein	Name
NM_000413.4	NP_000404.2	17-beta-hydroxysteroid dehydrogenase type 1 isoform 1
NM_001330219.3	NP_001317148.1	17-beta-hydroxysteroid dehydrogenase type 1 isoform 2

HSD17B1 Protein Structure

adh_short

0
100
200
300
328 a.a.

Protein Preferred Names

Protein Names

17-beta-hydroxysteroid dehydrogenase type 1

17-beta-HSD 1

Related Diseases

Diseases

Alias

Ovarian Disease

Ovarian Dysfunction	Ovarian Diseases
Ovarian Disorders	Disorder Of Endocrine Ovary

Endometriosis

Endometriosis, Site Unspecified

Endometrial Ectopia

Adenomyosis

Endometriosis Of Uterus	Endometriosis Interna
Endometriosis Of Myometrium	Endometriosis, Myometrium
Uterine Adenomyosis	Adenomyosis Uteri
Internal Endometriosis

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

17-Ksr Deficiency	Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency
Pseudohermaphroditism, Male, With Gynecomastia	17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
Testosterone 17-Beta-Dehydrogenase Deficiency	17-Ketosteroid Reductase Deficiency Of Testis
17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	17-Ketoreductase Deficiency
17-Ketosteroidreductase Deficiency	46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Male Pseudohermaphroditism With Gynecomastia	17 Alpha Ksr Deficiency
17 Alpha Ketosteroid Reductase Deficiency Of Testis	17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male Pseudoherma-Phroditism With Gynecomastia	Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency
Male Pseudohermaphrodism With Gynecomastia	MPH
17-Hydroxysteroid Dehydrogenase Deficiency

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Cytochrome P450 Oxidoreductase Deficiency

Por Deficiency	Pord
Antley-Bixler Syndrome With Disordered Steroidogenesis	Antley-Bixler Syndrome
Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis	Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase
Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency	Antley-Bixler Syndrome, Autosomal Dominant

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type	Hsd10 Disease, Atypical Type
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome	Mrxs10
Mental Retardation, X-Linked, Syndromic 10

Endometrial Cancer

Endometrial Carcinoma	Endometrial Neoplasm
Malignant Neoplasm Of Endometrium	Endometrioid Carcinoma
Endometrial Neoplasms	Carcinoma, Endometrioid
Endometrial Cancer, Familial	Endometrial Carcinoma, Somatic
Endometrial Cancer, Susceptibility To	Endometrial Ca
Malignant Endometrial Neoplasm	Neoplasm Of Endometrium
Primary Malignant Neoplasm Of Endometrium	Tumor Of Endometrium
Carcinoma Of The Endometrium	Endometrioid Carcinoma Of Female Reproductive System
ENDMC	Carcinoma Endometrioid
Endometrial Cancers	Cancer, Endometrial
Uterine Corpus Cancer

Amelogenesis Imperfecta, Type Ig

Enamel-Renal Syndrome	Ers
Amelogenesis Imperfecta Type 1g	AI1G
Enamel-Renal-Gingival Syndrome	Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome
Aigfs	Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis
Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis	Amelogenesis Imperfecta Type Ig
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome	Amelogenesis Imperfecta 1g
Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis	Amelogenesis Imperfecta Nephrocalcinosis

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia	Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Congenital Lipoid Adrenal Hyperplasia	Lipoid Cah
Lipoid Adrenal Hyperplasia	Adrenal Hyperplasia 1
Cah	Clah
LCAH	Adrenal Hyperplasia I
Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism	Congenital Adrenal Hyperplasia Lipoid
Adrenal Hyperplasia, Congenital	Congenital Adrenal Hyperplasia, Lipoid
AH1	Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
Adrenal Hyperplasia Congenital	Hyperplasia, Adrenal, Lipoid, Congenital
Congenital Adrenogenital Disorders Associated With Enzyme Deficiency	Congenital Adrenal Cortical Hyperplasia
Congenital Adrenal Gland Hyperplasia	Congenital Adrenogenital Syndrome
Congenital Hyperadrenocorticism	Congenital Adrenogenitalism
Congenital Female Adrenal Pseudohermaphroditism

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

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-159525	Linustedastatum	Inhibitor	/	Unkown
HY-RS06389	HSD17B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HSD17B1	VGNC	VGNC:67656
Mus musculus	HSD17B1	MGD	MGI:105077
Bos taurus	HSD17B1	VGNC	VGNC:29968
Canis familiaris	HSD17B1	VGNC	VGNC:41800
Macaca mulatta	HSD17B1	VGNC	VGNC:73528
Rattus norvegicus	HSD17B1	RGD	RGD:2836
Others	HSD17B1	NCBI

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