SRD5A1 (steroid 5 alpha-reductase 1)

2007-02-01  

Identity

HGNC
SRD5A1
LOCATION
5p15.31
LOCUSID
6715
ALIAS
S5AR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6715
MIM: 184753
HGNC: 11284
Ensembl: ENSG00000145545

Variants:

dbSNP: 6715
ClinVar: 6715
TCGA: ENSG00000145545
COSMIC: SRD5A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145545ENST00000274192P18405
ENSG00000145545ENST00000510531D6RDL6
ENSG00000145545ENST00000513117D6RG03

Expression (GTEx)

0
5
10
15
20
25
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

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Androgen biosynthesisREACTOMER-HSA-193048

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
217956082011Dihydrotestosterone synthesis bypasses testosterone to drive castration-resistant prostate cancer.111
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
200861732010Evidence of limited contributions for intratumoral steroidogenesis in prostate cancer.71
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
152126872004Expression of progesterone metabolizing enzyme genes (AKR1C1, AKR1C2, AKR1C3, SRD5A1, SRD5A2) is altered in human breast carcinoma.33
186361242008Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.32
186331042008Impaired glucose tolerance and insulin resistance are associated with increased adipose 11beta-hydroxysteroid dehydrogenase type 1 expression and elevated hepatic 5alpha-reductase activity.31
168187072006Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers.30

Citation

Dessen P

SRD5A1 (steroid 5 alpha-reductase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43844/srd5a1