HSD17B1 - hydroxysteroid 17-beta dehydrogenase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3292

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

HSD17B1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83303	HSD17B1 Antibody (YA3048)	WB, IHC-F, IHC-P, ICC/IF, IP	Human
HY-P83303A	HSD17B1 Antibody (YA3048)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-159525	Linustedastatum	Inhibitor	98.10%	Phase 2

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-129583	Lepidiline A	Activator	99.54%	Unkown
HY-RS06389	HSD17B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19278	Hsd17b1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25768	Hsd17b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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