SRD5A1 - steroid 5 alpha-reductase 1 Gene

Also Known as S5AR 1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6715

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
Molecular Function GO Annotation Evidence References 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

SRD5A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SRD5A1 P18405 ACTBL2 Homo sapiens Q562R1 33961781
Intra
SRD5A1 P18405 ACTBL2 Homo sapiens Q562R1 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others SRD5A1 NCBI