HSD3B1 - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 Gene

Also Known as HSD3B; HSDB3; HSDB3A; SDR11E1; 3BETAHSD

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 3283

About HSD3B1

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,507,203-119,515,058 (from NCBI)

This gene has 5 transcripts (splice variants), 370 orthologues and 10 paralogues. Restricted expression toward placenta (RPKM 60.6).

Summary

The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid Hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane Steroids. [provided by RefSeq, Jun 2016]

HSD3B1 Products (2)

mRNA	Protein	Name
NM_000862.3	NP_000853.1	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
NM_001328615.1	NP_001315544.1	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

HSD3B1 Protein Structure

3Beta_HSD

0
100
200
300
373 a.a.

Protein Preferred Names	Protein Names
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I

HSD3B1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	HSD3B1	P14060	NEK7	Homo sapiens	Q8TDX7	Y2H Array	32814053
Intra	HSD3B1	P14060	NEK7	Homo sapiens	Q8TDX7	Y2H Pooling	32814053
Intra	HSD3B1	P14060	NEK7	Homo sapiens	Q8TDX7	Validated Y2H	32814053
Intra	HSD3B1	P14060	SLC16A13	Homo sapiens	Q7RTY0	Y2H Prey Pooling	32296183
Intra	HSD3B1	P14060	SLC16A13	Homo sapiens	Q7RTY0	Validated Y2H	32296183
Intra	HSD3B1	P14060	SLC16A13	Homo sapiens	Q7RTY0	Y2H Array	32296183
Intra	HSD3B1	P14060	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	HSD3B1	P14060	AQP6	Homo sapiens	Q13520	Validated Y2H	32296183
Intra	HSD3B1	P14060	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	HSD3B1	P14060	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	HSD3B1	P14060	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	HSD3B1	P14060	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	HSD3B1	P14060	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	HSD3B1	P14060	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	HSD3B1	P14060	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	HSD3B1	P14060	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	HSD3B1	P14060	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	HSD3B1	P14060	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

HSD3B1 抗体

製品番号	製品名	アプリケーション	反応性
HY-P81196	HSD3B1 Antibody (YA3519)	WB, ICC/IF	Human

関連疾患

Diseases	Alias
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
Bile Acid Synthesis Defect, Congenital, 1	CBAS1 Congenital Bile Acid Synthesis Defect 1 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Congenital Bile Acid Synthesis Defect Type 1 Basd1 Congenital Bile Acid Synthesis Defect, Type 1 3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of 3beta-Hsdh Deficiency 3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency 3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Neonatal Progressive Intrahepatic Cholestasis Pfic4 Progressive Familial Intrahepatic Cholestasis Type 4 Bile Acid Synthesis Defect, Congenital, Type 1 Cholestasis, Progressive Familial Intrahepatic 4
Uterine Inflammatory Disease	Inflammatory Disease Of The Uterus
Mycetoma	Madura Foot Mycetoma Of Foot
Adrenal Carcinoma	Adrenal Cancer Adrenal Gland Cancer Malignant Neoplasm Of Adrenal Gland Adrenal Gland Neoplasms Carcinoma Of The Adrenal Gland Adrenal Neoplasm Malignant Adrenal Tumor Neoplasm Of Adrenal Gland Tumor Of The Adrenal Gland Adrenal Gland Neoplasm Adrenocortical Carcinoma Adrenal Gland Malignancy Suprarenal Cancer Malignant Neoplasm Of Suprarenal Gland Malignant Neoplasm Of Adrenal Gland, Unspecified Malignant Tumour Of Adrenal Gland Suprarenal Gland Cancer Primary Malignant Neoplasm Of Adrenal Gland
Leydig Cell Hypoplasia	46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency 46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency 46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Disorder Of Sex Development Due To Lh Defects Lh Resistance Due To Lh Receptor Deactivation Leydig Cell Agenesis Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency Lch Hypoplasia, Leydig Cell
Testicular Sex Cord-Stromal Neoplasm	Sex Cord-Stromal Tumor Of Testis Testicular Sex Cord-Stromal Tumor
Steroid Inherited Metabolic Disorder	Steroid Metabolism, Inborn Errors
Testicular Leydig Cell Tumor	Testicular Leydig Cell Neoplasm Leydig Cell Tumor Of Testis Interstitial Cell Neoplasm Of Testis
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
46,Xy Sex Reversal 2	Dosage-Sensitive Sex Reversal Dss SRXY2 46,Xy Sex Reversal, Dax1-Related 46xy Sex Reversal 2, Dosage-Sensitive 46,Xy Sex Reversal Dax1-Related
Ovarian Disease	Ovarian Dysfunction Ovarian Diseases Ovarian Disorders Disorder Of Endocrine Ovary
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Cloacal Exstrophy	Oeis Complex Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex Cloacal Exstrophy Sequence Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Omphalocele Exstrophy Imperforate Anus
Acth-Independent Macronodular Adrenal Hyperplasia	Acth-Independent Macronodular Adrenocortical Hyperplasia Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia Corticotropin-Independent Macronodular Adrenal Hyperplasia Cushing Syndrome Due To Macronodular Adrenal Hyperplasia AIMAH1 Aimah Massive Macronodular Adrenocortical Disease Mmad Primary Macronodular Adrenal Hyperplasia Cushing Syndrome, Adrenal, Due To Aimah Primary Bilateral Macronodular Adrenal Hyperplasia Acth-Independent Macronodular Adrenal Hyperplasia 1 Acth-Independent Cushing Syndrome Adrenal Cushing Syndrome Due To Aimah Acth-Independent Macronodular Adrenal Hyperplasia 2
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
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
Adrenal Cortex Disease	Adrenal Cortex Diseases
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
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
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
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration

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 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS06401	HSD3B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	HSD3B1	RGD	RGD:1308676