SRD5A1

steroid 5 alpha-reductase 1, the group of Steroid 5-alpha reductase family

Basic information

Region (hg38): 5:6633290-6676539

Links

ENSG00000145545NCBI:6715OMIM:184753HGNC:11284Uniprot:P18405AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRD5A1 gene.

  • not_specified (32 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRD5A1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001047.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
2
clinvar
3
missense
30
clinvar
2
clinvar
32
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 30 3 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SRD5A1protein_codingprotein_codingENST00000274192 536220
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00001160.6061257290191257480.0000756
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5901291490.8640.000007481653
Missense in Polyphen3951.1690.76217620
Synonymous-1.097160.21.180.00000312505
Loss of Function0.844912.20.7396.08e-7130

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006020.0000602
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.00009470.0000879
Middle Eastern0.0001090.000109
South Asian0.0001640.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5- alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.;
Pathway
Steroid hormone biosynthesis - Homo sapiens (human);17-Beta Hydroxysteroid Dehydrogenase III Deficiency;Androgen and Estrogen Metabolism;Aromatase deficiency;Metabolism of lipids;Androgen and estrogen biosynthesis and metabolism;Metabolism;allopregnanolone biosynthesis;Androgen biosynthesis;Metabolism of steroid hormones;Metabolism of steroids;Bile acid biosynthesis;androgen biosynthesis;superpathway of steroid hormone biosynthesis;Steroid hormones (Consensus)

Intolerance Scores

loftool
0.612
rvis_EVS
-0.07
rvis_percentile_EVS
48.12

Haploinsufficiency Scores

pHI
0.0587
hipred
N
hipred_score
0.271
ghis
0.503

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.954

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Srd5a1
Phenotype
endocrine/exocrine gland phenotype; reproductive system phenotype;

Gene ontology

Biological process
urogenital system development;liver development;steroid biosynthetic process;androgen biosynthetic process;androgen catabolic process;sex determination;male gonad development;cellular response to starvation;response to muscle activity;diterpenoid metabolic process;spinal cord development;hippocampus development;thalamus development;hypothalamus development;pituitary gland development;cerebral cortex development;electron transport chain;cell differentiation;male genitalia development;female genitalia development;response to follicle-stimulating hormone;cellular response to insulin stimulus;serotonin metabolic process;progesterone metabolic process;circadian sleep/wake cycle, REM sleep;response to estrogen;bone development;response to growth hormone;response to fungicide;cellular response to cAMP;cellular response to growth factor stimulus;cellular response to estradiol stimulus;cellular response to testosterone stimulus;cellular response to dexamethasone stimulus;cellular response to epinephrine stimulus
Cellular component
endoplasmic reticulum membrane;integral component of membrane;organelle membrane;neuronal cell body;myelin sheath;perinuclear region of cytoplasm;cell body fiber
Molecular function
3-oxo-5-alpha-steroid 4-dehydrogenase activity;electron transfer activity;oxidoreductase activity;amide binding;cholestenone 5-alpha-reductase activity;NADPH binding