1. Gene
  2. SRD5A1 - steroid 5 alpha-reductase 1 Gene

SRD5A1 - steroid 5 alpha-reductase 1 Gene

Homo sapiens

Also known as S5AR 1

Gene ID: 6715 | Gene type: protein coding

About SRD5A1

Cytogenetic location: 5p15.31 Genomic coordinates (GRCh38): 5:6,633,440-6,674,386 (from NCBI)

This gene has 4 transcripts (splice variants), 198 orthologues and 3 paralogues. Broad expression in esophagus (RPKM 13.2), skin (RPKM 10.7) and 24 other tissues.

Summary

Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]

SRD5A1 Products(3)

mRNA Protein Name
NM_001047.4 NP_001038.1 3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform 1
NM_001324322.2 NP_001311251.1 3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform 2
NM_001324323.2 NP_001311252.1 3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform 3
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity IDA
IDA: Inferred from direct assay
17986282 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 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

SRD5A1 Protein Structure

Steroid_dh

Steroid_dh: 3-oxo-5-alpha-steroid 4-dehydrogenase (111 - 259)

  • 0
  • 100
  • 200
  • 259 a.a.
Protein Preferred Names Protein Names

3-oxo-5-alpha-steroid 4-dehydrogenase 1

SR type 1

Related Diseases

Diseases Alias
Prostatic Adenoma

Prostatic Hyperplasia

Adenoma - Prostate

Adenoma Of Prostate

Benign Adenoma Of Prostate

Prostate Adenoma

Benign Prostatic Hyperplasia

Prostatic Hyperplasia, Benign

Benign Prostatic Hyperplasia

BPH

Prostatic Hyperplasia

Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dhtr Deficiency

Dihydrotestosterone Receptor Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos

Impotence

Erectile Dysfunction

Sexual Impotence

Erectile Dysfunction Adverse Event

Androgen Insensitivity, Partial

Partial Androgen Insensitivity Syndrome

Reifenstein Syndrome

PAIS

Androgen Insensitivity, Partial, With Or Without Breast Cancer

Familial Incomplete Male Pseudohermaphroditism, Type 1

Androgen Insensitivity Syndrome, Partial

Androgen Resistance Syndrome, Partial

Reifenstein Syndrome, Partial

Partial Androgen Resistance Syndrome

Androgen Insensitivity Partial With Or Without Breast Cancer

Androgen Insensitivity Syndrome Partial

Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome

Gynecomastia
Hypospadias

Hypospadias Familial

Familial Hypospadias

Polycystic Ovary Syndrome

Polycystic Ovarian Syndrome

Pcos

Polycystic Ovarian Disease

Polycystic Ovaries

Stein-Leventhal Syndrome

Multicystic Ovaries

Polycystic Ovary

Sclerocystic Ovaries

Sclerocystic Ovary Syndrome

Stein-Leventhal Synd.

Cystic Disease Of Ovaries

Cystic Disease Of Ovary

Pco

Pcod

Sclerocystic Ovarian Degeneration

Polycystic Ovary Syndrome, Susceptibility To

Pcos - [Polycystic Ovary Syndrome]

Polycystic Ovary Nos

Pco - [Polycystic Ovary]

Mixed Gonadal Dysgenesis

Gonadal Dysgenesis Mixed

Gonadal Dysgenesis, Mixed

Acne

Acne Vulgaris

Acne Varioliformis

Frontalis Acne

Hyperandrogenism

Hyperandrogenization Syndrome

Alopecia, Androgenetic, 1

Androgenetic Alopecia

Androgenic Alopecia

AGA1

Aga

Female Pattern Baldness

Male Pattern Alopecia

Male Pattern Baldness

Pattern Baldness

Alopecia, Androgenetic

Alopecia Androgenetic

Female Pattern Alopecia

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Prostate Disease

Prostatic Diseases

Prostate Diseases

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

Kahrizi Syndrome

KHRZ

Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive

Intellectual Disability, Kahrizi Type

Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome

Penis Agenesis

Micropenis

Agenesis Of The Penis

Penis Agenesia

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

Alopecia
Anovulation
Androgenic Alopecia

Androgenetic Alopecia

Alopecia Androgenetica, Male Pattern Baldness

46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development

46,Xx Gonadal Dysgenesis

SRXX1

46,Xx Gonadal Dysgenesis, Complete, Sry-Positive

46,Xx Testicular Dsd

Xx Male Syndrome

46,Xx Complete Gonadal Dysgenesis

46,Xx Pure Gonadal Dysgenesis

Follicular Stimulating Hormone-Resistant Ovaries

Hypergonadotropic Ovarian Dysgenesis

Ovotesticular Disorder Of Sex Development

46,Xx Sex Reversal, Sry-Positive

Xx Male, Sry-Positive

46xx Sex Reversal 1

46, Xx Gonadal Sex Reversal

Xx Sex Reversal

46,Xx Ovarian Dysgenesis

Fsh-Ro

Xx Female Gonadal Dysgenesis

Xx-Gd

46,Xx Ovotesticular Disorder Of Sex Development

46,Xx Ovotesticular Dsd

De La Chapelle Syndrome

Xx, Male Syndrome

46,Xx Gonadal Dysgenesis Complete Sry-Positive

46,Xx Sex Reversal Sry-Positive

46,Xx True Hermaphroditism Sry-Positive

Ovotesticular Dsd

Xx Male Sry-Positive

Ovotesticular Disorders Of Sex Development

46, Xx Testicular Disorders Of Sex Development

Resistant Ovary Syndrome

Dysgenetic Ovaries

Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]

True Hermaphroditism

Ovotestis

True Hermaphrodite

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Denys-Drash Syndrome

Drash Syndrome

DDS

Nephropathy, Wilms Tumor, And Genital Anomalies

Wilms Tumor And Pseudohermaphroditism

Wilms Tumor And Pseudo- Or True Hermaphroditism

Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor

Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor

Wilms Tumor-Dsd Syndrome

Wilms Tumor-Disorder Of Sex Development Syndrome

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

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

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 SRD5A1 RGD RGD:3757
Felis catus SRD5A1 VGNC VGNC:65673
Bos taurus SRD5A1 VGNC VGNC:35271
Canis familiaris SRD5A1 VGNC VGNC:46793
Mus musculus SRD5A1 MGD MGI:98400
Macaca mulatta SRD5A1 VGNC VGNC:77879