Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79644
Gene name	Steroid 5 alpha-reductase 3
Gene symbol	SRD5A3
Synonyms (NCBI Gene)	CDG1PCDG1QKRIZIS5ARS5AR 3SRD5A2LSRD5A2L1
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

Show/Hide all (14)

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

277

Show/Hide all (277)

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

Show/Hide all (1)

Transcription factor	Regulation	Reference
AR	Unknown	22194926

Show/Hide all (27)

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

MIM	HGNC	e!Ensembl
611715	25812	ENSG00000128039

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

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis N-Glycan biosynthesis Metabolic pathways		Androgen biosynthesis Synthesis of Dolichyl-phosphate Defective SRD5A3 causes SRD5A3-CDG (CDG-1q) and KHRZ

206

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal optic nerve morphology	Likely pathogenic; Pathogenic	rs777551011	RCV005241251
Abnormality of the nervous system	Pathogenic; Likely pathogenic	rs398124401, rs2109488570, rs267607095	RCV001814055 RCV001814567 RCV001814006
Autism	Pathogenic	rs398124401	RCV001003586
Cone dystrophy	Pathogenic	rs398124401	RCV001003586
Congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs398124401, rs765191836, rs763516132	RCV000851211 RCV000851210 RCV000851213
Global developmental delay	Pathogenic	rs398124401	RCV001003586
Kahrizi syndrome	Pathogenic; Likely pathogenic	rs398124401, rs1719958144, rs587776521, rs869320736, rs1578209906	RCV001542529 RCV005869747 RCV004798740 RCV000023917 RCV000991422
Retinal disorder	Pathogenic	rs398124401	RCV006261728
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
SRD5A3-related disorder	Pathogenic; Likely pathogenic	rs398124401, rs2545455816	RCV005222742 RCV003402453

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs573960	RCV005897843
Congenital cerebellar hypoplasia	Uncertain significance	rs767876488	RCV005626762
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs201283909	RCV004557966
Generalized hypotonia	Uncertain significance	rs565935886	RCV001270115
Hemangioma	Uncertain significance	rs565935886	RCV001270115
Low-set ears	Uncertain significance	rs565935886	RCV001270115
Uterine carcinosarcoma	Benign	rs573960	RCV005897844

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	31358835, 35739271
Breast Neoplasms	Stimulate	34465365
Calcinosis Cutis	Stimulate	22971343
Carcinoma Hepatocellular	Associate	37305349, 39340288
Carcinoma Renal Cell	Associate	34958632
Cataract	Associate	27480077
Cerebellar Ataxia	Associate	20700148, 20852264, 24433453
Cerebellar Diseases	Associate	20852264
Cholangiocarcinoma	Associate	34871464
Congenital Disorder Of Glycosylation Type In	Associate	20700148
Congenital Disorders of Glycosylation	Associate	20852264, 27480077, 33407696, 35205402, 36716239, 37069668
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	24433453
Eye Abnormalities	Associate	20852264
Eye Diseases	Associate	20700148
Glycogen Storage Disease XIV	Associate	36716239
Intellectual Disability	Associate	20700148
Kahrizi Syndrome	Associate	20700148
Kyphosis	Associate	27480077
Learning Disabilities	Associate	28253385
Myopia	Associate	28253385
Neoplasm Metastasis	Associate	39340288
Neoplasms	Stimulate	34222480
Neoplasms	Associate	40442220
Night Blindness	Associate	28253385
Optic Atrophy	Associate	24433453
Primary hyperoxaluria type 2	Associate	22304929
Prostatic Neoplasms	Associate	19934327
Pseudovaginal Perineoscrotal Hypospadias	Associate	20852264
Psychomotor Disorders	Associate	28253385
Retinal Dystrophies	Associate	28253385
Retinitis	Associate	24433453
Retinitis Pigmentosa	Associate	27480077
Skin Neoplasms	Associate	27480077
Triple Negative Breast Neoplasms	Associate	40442220
Uniparental Disomy	Associate	35205402
Vision Disorders	Associate	28253385

SRD5A3 (steroid 5 alpha-reductase 3)