Aliases &
Descriptions
for HSD3B1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 11 2 | | progesterone reductase2 | | SDR11E11 2 | | HSD3B2 | | Trophoblast antigen FDO161G2 3 | | delta-5-3-ketosteroid isomerase2 | | 3-beta-HSD I2 3 | | HSDB32 | | HSDB3A2 3 | | I2 | | 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I2 3 | | 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 12 | | hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 12 | | 3-beta-hydroxy-5-ene steroid dehydrogenase2 | | short chain dehydrogenase/reductase family 11E, member 12 | | 3BETAHSD2 | | steroid Delta-isomerase2 | | 3BH3 | | 3-beta-hydroxy-Delta(5)-steroid dehydrogenase2 | | |
Export aliases for HSD3B1 gene to outside databasesPrevious GC identifers: GC01P120496 GC01P118887 GC01P119105 GC01P119304 GC01P119761 GC01P119852 GC01P120049 |
Summaries
for HSD3B1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060Function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxysteroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in thebiosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone toprogesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone, DHEA to 4-androstenedione,dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to androstenedione and5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone
Gene Wiki entry for HSD3B1 |
Genomic Views
for HSD3B1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HSD3B1 gene promoter:
YY1 p53 MIF-1 Pax-2 CUTL1 C/EBPalpha NRSF form 1 NRSF form 2 GCNF-2 GCNF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for HSD3B1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p13.1 Ensembl cytogenetic band: 1p12 HGNC cytogenetic band: 1p12HSD3B1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P117908: view genomic region
(about GC identifiers)
Start:
|
117,908,314 bp from pter |
End:
|
117,916,173 bp from pter |
Size:
|
7,860 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr1+ 120,049,826-120,057,681 |
RefSeq DNA sequence:- NC_000001.10 NT_032977.9
|
Proteins
for HSD3B1 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060 (See
protein sequence)Recommended Name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 Size: 373 amino acids; 42252 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-passmembrane protein
Sequence caution: Sequence=AAA36001.1; Type=Erroneous gene model prediction;
Secondary accessions: A8K691 Q14545 Q8IV65Explore the universe of human proteins at neXtProt for HSD3B1: NX_P14060
REFSEQ proteins: NP_000853.1
ENSEMBL proteins: ENSP00000235547 ENSP00000358421
Human Recombinant Proteins
5/9 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 9): About this table
HSD3B1 for ontologies About GeneDecksing
Antibodies for HSD3B1:
Assays for HSD3B1: |
Protein
Domains/
Families
for HSD3B1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HSD3B1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P14060ProtoNet protein and cluster: P14060 1 Blocks protein family: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase
UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060Similarity: Belongs to the 3-beta-HSD family |
Gene Function
for HSD3B1 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060Function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxysteroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in thebiosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone toprogesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone, DHEA to 4-androstenedione,dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to androstenedione and5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosteroneCatalytic activity: A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADHCatalytic activity: A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid
Genatlas biochemistry entry for HSD3B1:hydroxysteroid 3-beta,dehydrogenase/steroid delta 5-delta 4 isomerase,type I,NADH dependent,microsomal,expressed inplacenta and peripheral tissues5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7): About this table
HSD3B1 for ontologies About GeneDecksing
|
Pathways & Interactions
for HSD3B1 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
HSD3B1 for pathways About GeneDecksing
1  Millipore Pathway for HSD3B1
2  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for HSD3B1
2  Kegg Pathways (Kegg details for HSD3B1):
UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060Pathway: Lipid metabolism; steroid biosynthesis SABiosciences Custom Pathway-Focused PCR Arrays for HSD3B1
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HSD3B1
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD3B1
5/26 Interacting proteins for HSD3B1 (ENSP000003584213) via UniProtKB, MINT, and/or STRING (see all 26) About this table
5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10): About this table
HSD3B1 for ontologies About GeneDecksing
|
Drugs & Compounds
for HSD3B1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
HSD3B1 for compounds About GeneDecksing
 Browse Tocris compounds for HSD3B1
6  Novoseek chemical compound relationships for HSD3B1 gene
About this table
|
Transcripts
for HSD3B1 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for HSD3B1 gene: NM_000862.2 Additional cDNA sequence: AK291556.1 BC031999.1 CR590386.1 CR592176.1 CR592878.1 CR592971.1 CR593000.1 CR593718.1 CR594828.1 CR595151.1 CR597254.1 CR597734.1 CR599088.1 CR600450.1 CR601348.1 CR601599.1 CR602148.1 CR603707.1 CR606137.1 CR608233.1 CR608288.1 CR609339.1 CR611232.1 CR611960.1 CR612272.1 CR612644.1 CR613080.1 CR613981.1 CR614968.1 CR615472.1 CR615721.1 CR615908.1 CR616641.1 CR617417.1 CR617775.1 CR617799.1 CR618495.1 CR619906.1 CR621102.1 CR622398.1 CR623220.1 CR625130.1 CR626548.1 M27137.1 M35493.1 S45679.1 X53321.1 X55997.1 22 DOTS entries: DT.100817897 DT.455031 DT.100817894 DT.100817910 DT.100817911 DT.121332873 DT.92462463 DT.100837575 DT.104113 DT.95320241 DT.100765968 DT.100817900 DT.121332825 DT.121332949 DT.100669753 DT.100808929 DT.99998554 DT.100768746 DT.117306 DT.91861847 DT.95320255 DT.95320272 24/483 AceView cDNA sequences (see all 483): AV708376 AV705124 BX402476 AV709975 BM728470 AV701569 AV706317 AV710810 BX417042 AL548079 AV710896 CR611960 AV711350 AV710190 AV710172 T28767 CR601599 AL554113 AV711511 AV704418 AL547931 AL553392 AL541135 T47582
 highest scoring ESTs for HSD3B1:AA001626 AA001627 AA011557 AA024950 AA024994 AA033873 AA034358 AA101655 AA101656 AA368504 Unigene Cluster for HSD3B1: Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 Hs.364941 [show with all ESTs]Unigene Representative Sequence: CD014103
GeneLoc Exon Structure
4 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000235547 ENST00000492140 ENST00000487520 ENST00000369413(uc001ehv.1 uc001ehw.2)
|
Expression
for HSD3B1 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| HSD3B1 expression in normal and diseased human tissues
1 / 2 / 3 5 probe-sets matching HSD3B1 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 35721_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
1.00 |
1.00 |
M38180 |
0.20 |
1.00 |
0.72 |
1 |
| 204515_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_000862 |
0.60 |
1.00 |
0.82 |
1 |
| 241111_at2, 3
|
U133-B |
1 |
0.27 |
1.00 |
-- |
-- |
AI032819 |
0.40 |
1.00 |
0.76 |
1 |
| 204515_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 241111_at2
|
U133Plus2 |
1 |
0.27 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
HSD3B1 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TGGTTTGCTG
SOURCE GeneReport for Unigene cluster: Hs.364941
Expression variation in blood from EXPOLDB for HSD3B1 UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060Tissue specificity: Placenta and skin. Predominantly expressed in mammary gland tissue
SABiosciences Custom PCR Arrays for HSD3B1
|
Orthologs
for HSD3B1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for HSD3B1 gene from 5/7 species (see all 7)
About this table Species with no ortholog for HSD3B1
ENSEMBL Gene Tree for HSD3B1 (if available) |
Paralogs
for HSD3B1 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for HSD3B1 gene
- HSD3B22 SDR42E12 SDR42E22 HSD3B72 NSDHL2
HSD3B1 for paralogs About GeneDecksing
Pseudogenes
- 1 related pseudogene
|
Genomic Variants
for HSD3B1 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 1 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for HSD3B1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for HSD3B1
2 CNVs: 3308 48018 | | QIAGEN SeqTarget long-range PCR primers for resequencing HSD3B1 |
|
Disorders & Mutations
for HSD3B1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HSD3B1 for disorders About GeneDecksing
OMIM: 109715
2 Novoseek disease relationships for HSD3B1 gene
About this table
Human Gene Mutation Database (HGMD): HSD3B1
Genetic Association Database (GAD): HSD3B1
Human Genome Epidemiology (HuGE) Navigator: HSD3B1 (32 documents)
Export disorders and mutations for HSD3B1 gene to outside databases
|
Medical News
for HSD3B1 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for HSD3B1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/90 PubMed articles for HSD3B1 gene, integrated from 7 sources (see all 90):
(articles sorted by number of sources associating them with HSD3B1)- Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase. (PubMed id 2779585)1, 2, 3 Luu-The V.... Labrie C. (1989)
- The hormonal phenotype of nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency. (PubMed id 14764797)1, 4, 7 Carbunaru G.... Pang S. (2004)
- Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. (PubMed id 11912155)1, 4, 7 Chang B.L....Xu J. (2002)
- Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase. (PubMed id 1920284)1, 2, 7 Nickson D.A.... Sutcliffe R.G. (1991)
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
- Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia. (PubMed id 16302261)1, 4 Roberts R.O....Jacobsen S.J. (2006)
- Association of G-protein-coupled receptor kinase 4 haplotypes, but not HSD3B1 or PTP1B polymorphisms, with essential hypertension. (PubMed id 15097232)1, 4 Speirs H.J....Morris B.J. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure. (PubMed id 12054649)1, 4 Rosmond R....Bjorntorp P. (2002)
- Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)1, 2 Cargill M....Lander E.S. (1999)
|
External Searches for HSD3B1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HSD3B1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HSD3B1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HSD3B1 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for HSD3B1 gene:
Search GeneIP for patents involving HSD3B1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HSD3B1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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