SRD5A3 (steroid 5 alpha-reductase 3)

Gene

• Entrez ID: 79644
• Gene name: Steroid 5 alpha-reductase 3
• Gene symbol: SRD5A3
• Synonyms (NCBI Gene): CDG1P, CDG1Q, KRIZI, S5AR, S5AR 3, SRD5A2L, SRD5A2L1
• Chromosome: 4
• Chromosome location: 4q12
• 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-androge

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201123766	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs267607092	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs267607093	G>A	Pathogenic	Coding sequence variant, stop gained
rs267607094	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs267607095	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs376944136	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs398124401	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs587776521	CAA>TGAGTAAGGC	Pathogenic	Stop gained, coding sequence variant
rs752307253	G>-	Likely-pathogenic	Intron variant
rs772795484	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs869320736	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064796421	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1487808056	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1578209906	C>T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048534	hsa-miR-100-5p	CLASH	23622248
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	23313552
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	23313552
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT685562	hsa-miR-127-5p	HITS-CLIP	23313552
MIRT685561	hsa-miR-3611	HITS-CLIP	23313552
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT685559	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT685562	hsa-miR-127-5p	HITS-CLIP	27418678
MIRT685562	hsa-miR-127-5p	HITS-CLIP	27418678
MIRT685562	hsa-miR-127-5p	HITS-CLIP	27418678
MIRT685562	hsa-miR-127-5p	HITS-CLIP	27418678
MIRT685561	hsa-miR-3611	HITS-CLIP	27418678
MIRT685561	hsa-miR-3611	HITS-CLIP	27418678
MIRT685561	hsa-miR-3611	HITS-CLIP	27418678
MIRT685561	hsa-miR-3611	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	27418678
MIRT685559	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685559	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685559	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685559	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	27418678
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	27418678
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	27418678
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	27418678
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	23313552
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	23313552
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT685562	hsa-miR-127-5p	HITS-CLIP	23313552
MIRT685561	hsa-miR-3611	HITS-CLIP	23313552
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT685559	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT1387899	hsa-miR-1252	CLIP-seq
MIRT1387900	hsa-miR-1255b	CLIP-seq
MIRT1387901	hsa-miR-1265	CLIP-seq
MIRT1387902	hsa-miR-1343	CLIP-seq
MIRT1387903	hsa-miR-150	CLIP-seq
MIRT1387904	hsa-miR-185	CLIP-seq
MIRT1387905	hsa-miR-1912	CLIP-seq
MIRT1387906	hsa-miR-192	CLIP-seq
MIRT1387907	hsa-miR-214	CLIP-seq
MIRT1387908	hsa-miR-215	CLIP-seq
MIRT1387909	hsa-miR-2467-3p	CLIP-seq
MIRT1387910	hsa-miR-3136-5p	CLIP-seq
MIRT1387911	hsa-miR-3140-5p	CLIP-seq
MIRT1387912	hsa-miR-3150b-3p	CLIP-seq
MIRT1387913	hsa-miR-3164	CLIP-seq
MIRT1387914	hsa-miR-33a	CLIP-seq
MIRT1387915	hsa-miR-33b	CLIP-seq
MIRT1387916	hsa-miR-361-5p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT1387919	hsa-miR-3622b-5p	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT1387922	hsa-miR-378g	CLIP-seq
MIRT1387923	hsa-miR-3929	CLIP-seq
MIRT1387924	hsa-miR-3942-3p	CLIP-seq
MIRT1387925	hsa-miR-433	CLIP-seq
MIRT1387926	hsa-miR-4419b	CLIP-seq
MIRT1387927	hsa-miR-4427	CLIP-seq
MIRT1387928	hsa-miR-4437	CLIP-seq
MIRT1387929	hsa-miR-4439	CLIP-seq
MIRT1387930	hsa-miR-4478	CLIP-seq
MIRT1387931	hsa-miR-4495	CLIP-seq
MIRT1387932	hsa-miR-4497	CLIP-seq
MIRT1387933	hsa-miR-4513	CLIP-seq
MIRT1387934	hsa-miR-4519	CLIP-seq
MIRT1387935	hsa-miR-455-5p	CLIP-seq
MIRT1387936	hsa-miR-4674	CLIP-seq
MIRT1387937	hsa-miR-4713-5p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT1387939	hsa-miR-4784	CLIP-seq
MIRT1387940	hsa-miR-485-5p	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT1387942	hsa-miR-532-3p	CLIP-seq
MIRT1387943	hsa-miR-544	CLIP-seq
MIRT1387944	hsa-miR-550a	CLIP-seq
MIRT1387945	hsa-miR-658	CLIP-seq
MIRT1387946	hsa-miR-890	CLIP-seq
MIRT2116211	hsa-miR-1224-3p	CLIP-seq
MIRT1387901	hsa-miR-1265	CLIP-seq
MIRT2116212	hsa-miR-1273	CLIP-seq
MIRT2116213	hsa-miR-1285	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2116215	hsa-miR-3160-5p	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2116217	hsa-miR-3187-5p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT1387919	hsa-miR-3622b-5p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT1387922	hsa-miR-378g	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2116220	hsa-miR-3925-3p	CLIP-seq
MIRT2116221	hsa-miR-4423-3p	CLIP-seq
MIRT2116222	hsa-miR-4486	CLIP-seq
MIRT1387931	hsa-miR-4495	CLIP-seq
MIRT2116223	hsa-miR-4649-5p	CLIP-seq
MIRT2116224	hsa-miR-4651	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2116225	hsa-miR-4793-3p	CLIP-seq
MIRT2116226	hsa-miR-508-5p	CLIP-seq
MIRT2116227	hsa-miR-608	CLIP-seq
MIRT2116228	hsa-miR-612	CLIP-seq
MIRT2116229	hsa-miR-622	CLIP-seq
MIRT1387946	hsa-miR-890	CLIP-seq
MIRT2116211	hsa-miR-1224-3p	CLIP-seq
MIRT2116212	hsa-miR-1273	CLIP-seq
MIRT2116213	hsa-miR-1285	CLIP-seq
MIRT2338739	hsa-miR-147	CLIP-seq
MIRT2338740	hsa-miR-219-2-3p	CLIP-seq
MIRT2338741	hsa-miR-302a	CLIP-seq
MIRT2338742	hsa-miR-302b	CLIP-seq
MIRT2338743	hsa-miR-302c	CLIP-seq
MIRT2338744	hsa-miR-302d	CLIP-seq
MIRT2338745	hsa-miR-302e	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2116217	hsa-miR-3187-5p	CLIP-seq
MIRT2338746	hsa-miR-3613-5p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2338747	hsa-miR-372	CLIP-seq
MIRT2338748	hsa-miR-373	CLIP-seq
MIRT1387922	hsa-miR-378g	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2116220	hsa-miR-3925-3p	CLIP-seq
MIRT2338749	hsa-miR-4433	CLIP-seq
MIRT2338750	hsa-miR-4459	CLIP-seq
MIRT2116222	hsa-miR-4486	CLIP-seq
MIRT2338751	hsa-miR-4511	CLIP-seq
MIRT1387935	hsa-miR-455-5p	CLIP-seq
MIRT2116223	hsa-miR-4649-5p	CLIP-seq
MIRT2338752	hsa-miR-4661-3p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2338753	hsa-miR-4731-5p	CLIP-seq
MIRT2338754	hsa-miR-4757-5p	CLIP-seq
MIRT2338755	hsa-miR-4768-3p	CLIP-seq
MIRT2116225	hsa-miR-4793-3p	CLIP-seq
MIRT2116226	hsa-miR-508-5p	CLIP-seq
MIRT2338756	hsa-miR-512-3p	CLIP-seq
MIRT2338757	hsa-miR-520a-3p	CLIP-seq
MIRT2338758	hsa-miR-520b	CLIP-seq
MIRT2338759	hsa-miR-520c-3p	CLIP-seq
MIRT2338760	hsa-miR-520d-3p	CLIP-seq
MIRT2338761	hsa-miR-520e	CLIP-seq
MIRT2338762	hsa-miR-544b	CLIP-seq
MIRT2338763	hsa-miR-548b-3p	CLIP-seq
MIRT2338764	hsa-miR-599	CLIP-seq
MIRT2116228	hsa-miR-612	CLIP-seq
MIRT2116229	hsa-miR-622	CLIP-seq
MIRT1387945	hsa-miR-658	CLIP-seq
MIRT2338740	hsa-miR-219-2-3p	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2338746	hsa-miR-3613-5p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT1387919	hsa-miR-3622b-5p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2338751	hsa-miR-4511	CLIP-seq
MIRT2338752	hsa-miR-4661-3p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2338762	hsa-miR-544b	CLIP-seq
MIRT2338763	hsa-miR-548b-3p	CLIP-seq
MIRT1387945	hsa-miR-658	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2460528	hsa-miR-3591-5p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2460529	hsa-miR-4473	CLIP-seq
MIRT2460530	hsa-miR-4671-3p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2338756	hsa-miR-512-3p	CLIP-seq
MIRT2460531	hsa-miR-518a-5p	CLIP-seq
MIRT2460532	hsa-miR-520f	CLIP-seq
MIRT2460533	hsa-miR-527	CLIP-seq
MIRT2632169	hsa-miR-1	CLIP-seq
MIRT2632170	hsa-miR-122	CLIP-seq
MIRT2632171	hsa-miR-1244	CLIP-seq
MIRT1387904	hsa-miR-185	CLIP-seq
MIRT2632172	hsa-miR-1972	CLIP-seq
MIRT2632173	hsa-miR-199a-3p	CLIP-seq
MIRT2632174	hsa-miR-199b-3p	CLIP-seq
MIRT2632175	hsa-miR-206	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2632176	hsa-miR-3129-5p	CLIP-seq
MIRT2632177	hsa-miR-3135b	CLIP-seq
MIRT2632178	hsa-miR-3151	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2632179	hsa-miR-3613-3p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT1387919	hsa-miR-3622b-5p	CLIP-seq
MIRT2632180	hsa-miR-3652	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT2632181	hsa-miR-3672	CLIP-seq
MIRT2632182	hsa-miR-3673	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2632183	hsa-miR-371-5p	CLIP-seq
MIRT2632184	hsa-miR-371b-5p	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2632185	hsa-miR-3926	CLIP-seq
MIRT2632186	hsa-miR-4265	CLIP-seq
MIRT2632187	hsa-miR-4276	CLIP-seq
MIRT2632188	hsa-miR-4296	CLIP-seq
MIRT2632189	hsa-miR-4322	CLIP-seq
MIRT2632190	hsa-miR-4430	CLIP-seq
MIRT2338749	hsa-miR-4433	CLIP-seq
MIRT2632191	hsa-miR-4447	CLIP-seq
MIRT2338750	hsa-miR-4459	CLIP-seq
MIRT2632192	hsa-miR-4472	CLIP-seq
MIRT2632193	hsa-miR-4659a-5p	CLIP-seq
MIRT2632194	hsa-miR-4659b-5p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2632195	hsa-miR-4755-3p	CLIP-seq
MIRT2338755	hsa-miR-4768-3p	CLIP-seq
MIRT2632196	hsa-miR-4769-3p	CLIP-seq
MIRT2632197	hsa-miR-4786-5p	CLIP-seq
MIRT2632198	hsa-miR-491-5p	CLIP-seq
MIRT2338762	hsa-miR-544b	CLIP-seq
MIRT2632199	hsa-miR-548s	CLIP-seq
MIRT2632200	hsa-miR-570	CLIP-seq
MIRT2632201	hsa-miR-607	CLIP-seq
MIRT2632202	hsa-miR-613	CLIP-seq
MIRT2632203	hsa-miR-769-5p	CLIP-seq
MIRT2632204	hsa-miR-936	CLIP-seq
MIRT2632171	hsa-miR-1244	CLIP-seq
MIRT2632173	hsa-miR-199a-3p	CLIP-seq
MIRT2632174	hsa-miR-199b-3p	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2632176	hsa-miR-3129-5p	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT2632181	hsa-miR-3672	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2338749	hsa-miR-4433	CLIP-seq
MIRT2338750	hsa-miR-4459	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2691944	hsa-miR-4738-3p	CLIP-seq
MIRT2338755	hsa-miR-4768-3p	CLIP-seq
MIRT2632197	hsa-miR-4786-5p	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT2338762	hsa-miR-544b	CLIP-seq
MIRT2632203	hsa-miR-769-5p	CLIP-seq
MIRT2632204	hsa-miR-936	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Unknown	22194926

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	20637498
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20637498
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IEA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	20637498
GO:0006489	Process	Dolichyl diphosphate biosynthetic process	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006702	Process	Androgen biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016095	Process	Polyprenol catabolic process	IDA	20637498
GO:0016095	Process	Polyprenol catabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0016628	Function	Oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA	20637498
GO:0016628	Function	Oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	TAS
GO:0043048	Process	Dolichyl monophosphate biosynthetic process	IBA
GO:0043048	Process	Dolichyl monophosphate biosynthetic process	IDA	38821050
GO:0047751	Function	3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity	IDA	17986282
GO:0047751	Function	3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity	IEA
GO:0102389	Function	Polyprenol reductase activity	IBA
GO:0160198	Function	Polyprenal reductase activity	IDA	38821050
GO:0160198	Function	Polyprenal reductase activity	IEA

Other IDs

• MIM: 611715
• HGNC: 25812
• e!Ensembl: ENSG00000128039

Protein

• UniProt ID: Q9H8P0
• Protein name: Polyprenal reductase (EC 1.3.1.94) (3-oxo-5-alpha-steroid 4-dehydrogenase 3) (EC 1.3.1.22) (Steroid 5-alpha-reductase 2-like) (Steroid 5-alpha-reductase 3) (S5AR 3) (SR type 3)
• Protein function: Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol (PubMed:20637498, PubMed:38821050). Acts as a polyprenal reductase that mediates the reduction of polyprenal into d
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02544	Steroid_dh	158 → 318	3-oxo-5-alpha-steroid 4-dehydrogenase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in preadipocytes (at protein level) (PubMed:26855069). Overexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in normal adult organs. {ECO:0000269|PubMed:17986282, ECO:0000269|PubMed:26855
• Sequence:

  MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEP
  SRPAACRAFDVPKRYFSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQF
  QGGELALSAFLVLVFLWLHSLRRLFECLYVSVFSNVMIHVVQYCFGLVYYVLVGLTVLSQ
  VPMDGRNAYITGKNLLMQARWFHILGMMMFIWSSAHQYKCHVILGNLRKNKAGVVIHCNH
  RIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLVVTNVFFNQALSAFLSHQFYK
  SKFVSYPKHRKAFLPFLF

• Sequence length: 318

Pathways

KEGG:

Steroid hormone biosynthesis
N-Glycan biosynthesis
Metabolic pathways

Reactome:

Androgen biosynthesis
Synthesis of Dolichyl-phosphate
Defective SRD5A3 causes SRD5A3-CDG (CDG-1q) and KHRZ

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal optic nerve morphology	Likely pathogenic; Pathogenic	rs777551011	RCV005241251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Pathogenic; Likely pathogenic	rs398124401, rs2109488570, rs267607095	RCV001814055 RCV001814567 RCV001814006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Pathogenic	rs398124401	RCV001003586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Pathogenic	rs398124401	RCV001003586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs398124401, rs765191836, rs763516132	RCV000851211 RCV000851210 RCV000851213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs398124401	RCV001003586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kahrizi syndrome	Pathogenic; Likely pathogenic	rs398124401, rs1719958144, rs587776521, rs869320736, rs1578209906	RCV001542529 RCV005869747 RCV004798740 RCV000023917 RCV000991422	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Pathogenic	rs398124401	RCV006261728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SRD5A3-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs398124401, rs1482361634, rs1719958144, rs2545437087, rs587776521, rs267607093, rs267607095, rs267607092, rs267607094, rs1578209906	RCV000173528 RCV001901832 RCV002246742 RCV003158008 RCV000000890 RCV000000891 RCV000000892 RCV000000893 RCV000000894 RCV000991422	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SRD5A3-related disorder	Pathogenic; Likely pathogenic	rs398124401, rs2545455816	RCV005222742 RCV003402453	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1Q	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized hypotonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low-set ears	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Antithrombin III Deficiency	Antithrombin Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31358835, 35739271	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34465365	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37305349, 39340288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34958632	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	27480077	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	20700148, 20852264, 24433453	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	20852264	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34871464	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1q	Congenital Disorder Of Glycosylation	GENOMICS_ENGLAND_DG	18271001, 24433453, 27480077, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1q	Congenital Disorder Of Glycosylation	ORPHANET_DG	20637498		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1q	Congenital Disorder Of Glycosylation	CLINVAR_DG	20852264, 22304929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1q	Congenital Disorder Of Glycosylation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	20700148	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	20637498, 20700148, 20852264, 22240719, 25192513, 27480077, 31638560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	20852264, 27480077, 33407696, 35205402, 36716239, 37069668	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	CTD_human_DG	23349890		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	20700148		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	20637498, 20700148, 20852264, 24433453, 26219881, 27480077, 28253385		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	20852264	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	20700148	Associate	★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	36716239	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the pituitary gland	Hypoplasia Of The Pituitary Gland	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20700148	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kahrizi Syndrome	Kahrizi Syndrome	BEFREE	20700148		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kahrizi Syndrome	Kahrizi Syndrome	GENOMICS_ENGLAND_DG	24433453, 26219881		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kahrizi Syndrome	Kahrizi Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kahrizi Syndrome	Kahrizi Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	28253385	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17986282, 22415461		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	22415461		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	28253385	Associate	★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	CTD_human_DG	23349890		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	24433453	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 2	Hyperoxaluria	Pubtator	22304929	Associate	★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17986282, 22415461		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17986282		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19934327	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	28253385	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28253385		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27480077	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	27480077	Associate	★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
SRD5A3-CDG	Congenital Disorder Of Glycosylation	Orphanet			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40442220	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	28253385	Associate	★☆☆☆☆ Found in Text Mining only