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

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

Homo sapiens

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

Gene ID: 3283 | Gene type: protein coding

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

3Beta_HSD: 3-beta hydroxysteroid dehydrogenase/isomerase family (7 - 288)

  • 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

Related Diseases

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus HSD3B1 RGD RGD:1308676