SRD5A3 - steroid 5 alpha-reductase 3 Gene

Also Known as S5AR; CDG1P; CDG1Q; KRIZI; S5AR 3; SRD5A2L; SRD5A2L1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79644

About SRD5A3

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:55,346,242-55,373,100 (from NCBI)

This gene has 8 transcripts (splice variants), 201 orthologues and is associated with 4 phenotypes. Ubiquitous expression in gall bladder (RPKM 7.7), endometrium (RPKM 4.5) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked Monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]

SRD5A3 Products (2)

mRNA	Protein	Name
NM_001410732.1	NP_001397661.1	polyprenol reductase isoform 2
NM_024592.5	NP_078868.1	polyprenol reductase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity	IDA IDA: Inferred from direct assay	17986282	GOA
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA IDA: Inferred from direct assay	20637498	GOA
enables polyprenol reductase activity	IGI IGI: Inferred from genetic interaction	20637498	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dolichol metabolic process	IDA IDA: Inferred from direct assay	20637498	GOA
involved in dolichol-linked oligosaccharide biosynthetic process	IMP IMP: Inferred from mutant phenotype	20637498	GOA
involved in polyprenol catabolic process	IDA IDA: Inferred from direct assay	20637498	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	20637498	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

SRD5A3 Protein Structure

Steroid_dh

0
100
200
300
318 a.a.

Protein Preferred Names	Protein Names
polyprenol reductase	3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Iq	CDG1Q Srd5a3-Cdg Cdg Iq Cdgiq Congenital Disorder Of Glycosylation 1q Cdg-Iq Congenital Disorder Of Glycosylation Type Iq Coloboma, Ocular, With Ichthyosis, Brain Malformations, And Endocrine Abnormalities Congenital Disorder Of Glycosylation Iq Cdg Syndrome Type Iq Congenital Disorder Of Glycosylation Type 1q Ocular Coloboma Ichthyosis Brain Malformations And Endocrine Abnormalities Glycosylation, Congenital Disorder Of, Type Iq Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities
Kahrizi Syndrome	KHRZ Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive Intellectual Disability, Kahrizi Type Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome
Srd5a3-Congenital Disorder Of Glycosylation	Congenital Disorder Of Glycosylation Type 1q Cdg Iq Cdg-Iq
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Congenital Disorder Of Glycosylation, Type Im	Dolichol Kinase Deficiency CDG1M Dk1 Deficiency Cdg Im Cdgim Congenital Disorder Of Glycosylation Im Congenital Disorder Of Glycosylation 1m Dolk-Congenital Disorder Of Glycosylation Dk1-Cdg Cdg-Im Congenital Disorder Of Glycosylation Type Im Cdg Syndrome Type Im Carbohydrate Deficient Glycoprotein Syndrome Type Im Congenital Disorder Of Glycosylation Type 1m Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency Glycosylation, Congenital Disorder Of, Type Im
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Congenital Disorder Of Glycosylation, Type Iim	CDG2M Congenital Disorder Of Glycosylation Type Iim Slc35a2-Cdg Epileptic Encephalopathy, Early Infantile, 22 Cdg-Iim Cdg Iim Cdgiim Developmental And Epileptic Encephalopathy 22 Eiee22 Congenital Disorder Of Glycosylation Type 2m Cdg Syndrome Type Iim Dee22 Slc35a2-Congenital Disorder Of Glycosylation Epileptic Encephalopathy, Early Infantile, 22 Eiee22 Congenital Disorder Of Glycosylation 2m Congenital Disorder Of Glycosylation X-Linked Glycosylation, Congenital Disorder Of, Type Iim
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Hermansky-Pudlak Syndrome 6	HPS6 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 6 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Ngly1-Deficiency	Deficiency Of N-Glycanase 1 Ngly1-Cddg Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome Ngly1 Deficiency Congenital Disorder Of Deglycosylation Congenital Disorder Of Glycosylation Type Iv Congenital Disorder Of Deglycosylation Cddg Congenital Disorder Of Glycosylation Type Iv Cdg1v
Congenital Disorder Of Glycosylation, Type Iih	CDG2H Congenital Disorder Of Glycosylation Type Iih Cdg Iih Cdgiih Carbohydrate Deficient Glycoprotein Syndrome Type Iih Congenital Disorder Of Glycosylation Type 2h Cog8-Cdg Cdg-Iih Cdgiidh Cdg Syndrome Type Iih Congenital Disorder Of Glycosylation 2h Glycosylation, Congenital Disorder Of, Type Iih
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Protein-Losing Enteropathy	Protein-Losing Enteropathies Enteropathy, Exudative Exudative Enteropathy Ple - [Protein-Losing Enteropathy]
Castration-Resistant Prostate Carcinoma	Prostatic Neoplasms, Castration-Resistant
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS21945	Srd5a3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W010076	Methyl 2,4-dihydroxybenzoate	Inhibitor	99.57%	Unkown
HY-163938A	PROTAC erf3a Degrader-2		/	Unkown
HY-RS13756	SRD5A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28462	Srd5a3 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SRD5A3	MGD	MGI:1930252
Macaca mulatta	SRD5A3	VGNC	VGNC:82246
Felis catus	SRD5A3	VGNC	VGNC:65674
Rattus norvegicus	SRD5A3	RGD	RGD:1308828
Canis familiaris	SRD5A3	VGNC	VGNC:51783
Bos taurus	SRD5A3	VGNC	VGNC:35273
Others	SRD5A3	NCBI