SRD5A3 (steroid 5 alpha-reductase 3)

2008-03-01 Affiliation

Identity

HGNC

SRD5A3

LOCATION

4q12

LOCUSID

79644

ALIAS

CDG1P,CDG1Q,KRIZI,SRD5A2L,SRD5A2L1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 79644
MIM: 611715
HGNC: 25812
Ensembl: ENSG00000128039

Variants:

dbSNP: 79644
ClinVar: 79644
TCGA: ENSG00000128039
COSMIC: SRD5A3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000128039	ENST00000264228	Q9H8P0
ENSG00000128039	ENST00000505210	H0Y9P9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Steroid hormone biosynthesis	KEGG	ko00140
Steroid hormone biosynthesis	KEGG	hsa00140
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193
Synthesis of substrates in N-glycan biosythesis	REACTOME	R-HSA-446219
Synthesis of Dolichyl-phosphate	REACTOME	R-HSA-446199
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Metabolism of steroid hormones	REACTOME	R-HSA-196071
Androgen biosynthesis	REACTOME	R-HSA-193048

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20637498	2010	SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.	92
17986282	2008	Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.	62
20852264	2010	A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.	28
20700148	2011	Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.	16
21704348	2011	Overexpression of hepatic 5α-reductase and 11β-hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients.	9
24433453	2014	Adult phenotype and further phenotypic variability in SRD5A3-CDG.	7
28253385	2017	Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.	5
26855069	2016	Characterization of 5α-reductase activity and isoenzymes in human abdominal adipose tissues.	4
27480077	2016	SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.	2
29185104	2018	5α-Reductase isozymes and aromatase mRNA levels in plucked hair from young women with female pattern hair loss.	1

Citation

Dessen P

SRD5A3 (steroid 5 alpha-reductase 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-03-01

Online version: http://atlasgeneticsoncology.org/gene/50048/srd5a3