Gene table of SRD5A3 : steroid 5 alpha-reductase 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with SRD5A3OMIM linkNumber of associated genesgenes
PS212065CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE IClinVar, OMIM link to OMIM 25ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4
612713KAHRIZI SYNDROMEClinVar, OMIM link to OMIM 1SRD5A3

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Annotation of the gene SRD5A3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Steroid hormone biosynthesishsa001406.93
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Post-translational protein modificationR-HSA-5975924.54
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinR-HSA-4461936.92
Diseases associated with glycosylation precursor biosynthesisR-HSA-56099759.08
Synthesis of substrates in N-glycan biosythesisR-HSA-4462197.28
Metabolism of proteinsR-HSA-3924993.41
Synthesis of Dolichyl-phosphateR-HSA-44619910.66
Asparagine N-linked glycosylationR-HSA-4462036.1
MetabolismR-HSA-14307282.34
Metabolism of steroid hormones and vitamin DR-HSA-1960717.89
Androgen biosynthesisR-HSA-1930489.52
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Diseases of glycosylationR-HSA-37818656.89
DiseaseR-HSA-16436853.33
Defective SRD5A3 causes SRD5A3-CDG (CDG-1q) and KHRZR-HSA-475557912.98
Associated GO terms for Molecular function
GO termGO IDGO IC
steroid dehydrogenase activityGO:00162296.34
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptorGO:00166286.56
3-oxo-5-alpha-steroid 4-dehydrogenase activityGO:00038658.64
oxidoreductase activity, acting on the CH-CH group of donorsGO:00166275.66
steroid dehydrogenase activity, acting on the CH-CH group of donorsGO:00337658.35
catalytic activityGO:00038241.05
enone reductase activityGO:00356718.13
cholestenone 5-alpha-reductase activityGO:00477518.64
oxidoreductase activityGO:00164913.12