Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	SRD5A1
Approved Name	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
Location	5p15.31
Position	chr5:6633343-6674386, 1
External Links	HGNC: 11284 Entrez Gene: 6715 Ensembl: ENSG00000145545 UCSC: uc003jdw.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Steen, N. E.,2010	SNP: rs166050, rs1691053, rs248797, rs30434, rs566202	There was a significant association of SRD5A1 with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030154	cell differentiation	biological process	IEA	31
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008202	steroid metabolic process	biological process	TAS	4
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	52
GO:0007530	sex determination	biological process	NAS[1686016]	1
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0007548	sex differentiation	biological process	IEA	2
GO:0006702	androgen biosynthetic process	biological process	TAS	2
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	molecular function	IDA[17986282]	2
GO:0009055	electron carrier activity	molecular function	TAS[1686016]	5
GO:0047751	cholestenone 5-alpha-reductase activity	molecular function	IEA	2
GO:0044281	small molecule metabolic process	biological process	TAS	117

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene
hsa05215	Prostate cancer	18
hsa00120	Bile acid biosynthesis	6
hsa00150	Androgen and estrogen metabolism	3

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 14)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs166050	chr5:6643734 - 6643734(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs30434	chr5:6673209 - 6673209(1)	3_prime_UTR_variant; downstream_gene_variant	1(0/1/0)
rs1691053	chr5:6677052 - 6677052(1)	downstream_gene_variant	1(0/1/0)
rs566202	chr5:6638833 - 6638833(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs248797	chr5:6661210 - 6661210(1)	intron_variant; NMD_transcript_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs824811	chr5:6665668 - 6665668(1)	intron_variant; NMD_transcript_variant
rs471604	chr5:6636443 - 6636443(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs248805	chr5:6644903 - 6644903(1)	3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs181807	chr5:6642829 - 6642829(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2434525	chr5:6677574 - 6677574(1)	downstream_gene_variant
rs531241	chr5:6637267 - 6637267(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs477930	chr5:6635769 - 6635769(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs501999	chr5:6635488 - 6635488(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs472402	chr5:6635478 - 6635478(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5pter-p15.1	chr5:0-18400000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
20800085	There was a significant association of SRD5A1 with BD.	Positive

Reference	ID in SZGene	Result Category
20800085	975	Positive

Gene relationship with MDD

View in gBrowse

Region: chr5:6633343..6674386 View in gBrowse