HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) - Rat Genome Database

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Gene: HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) Sus scrofa
Analyze
Symbol: HSD3B1
Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
RGD ID: 14234219
Description: ENCODES a protein that exhibits 3-beta-hydroxy-delta5-steroid dehydrogenase activity (ortholog); dihydrotestosterone 17-beta-dehydrogenase activity (ortholog); NAD binding (ortholog); INVOLVED IN adrenal gland development (ortholog); biphenyl metabolic process (ortholog); C21-steroid hormone metabolic process (ortholog); PARTICIPATES IN 11-beta-hydroxylase deficiency pathway; 17-alpha-hydroxylase deficiency pathway; 21-alpha-hydroxylase deficiency pathway; ASSOCIATED WITH autism spectrum disorder (ortholog); Hajdu-Cheney syndrome (ortholog); hyperprolactinemia (ortholog); FOUND IN intercellular bridge (ortholog); mitochondrial crista (ortholog); mitochondrial inner membrane (ortholog); INTERACTS WITH bisphenol A; Cloprostenol; fisetin
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase; 3-beta-HSD; 3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase; 3B-HSD; HSD3B
RGD Orthologs
Human
Mouse
Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14101,565,229 - 101,574,110 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24111,555,576 - 111,564,185 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap4q16-q21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
bisphenol A  (EXP)
Cloprostenol  (EXP)
fisetin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (ISO)
biphenyl metabolic process  (ISO)
C21-steroid hormone metabolic process  (IBA,ISO)
cellular response to antibiotic  (ISO)
cellular response to cAMP  (ISO)
cellular response to dexamethasone stimulus  (ISO)
cellular response to fibroblast growth factor stimulus  (ISO)
cellular response to follicle-stimulating hormone stimulus  (ISO)
cellular response to glucose stimulus  (ISO)
cellular response to gonadotropin stimulus  (ISO)
cellular response to hydrogen peroxide  (ISO)
cellular response to insulin stimulus  (ISO)
cellular response to luteinizing hormone stimulus  (ISO)
cellular response to mercury ion  (ISO)
cellular response to methylmercury  (ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
dibenzo-p-dioxin metabolic process  (ISO)
diterpenoid metabolic process  (ISO)
female gonad development  (ISO)
granulocyte differentiation  (ISO)
hippocampus development  (IBA,ISO)
insecticide metabolic process  (ISO)
Leydig cell differentiation  (ISO)
male gonad development  (ISO)
maternal process involved in female pregnancy  (ISO)
organic acid metabolic process  (ISO)
phenol-containing compound metabolic process  (ISO)
phosphatidylcholine metabolic process  (ISO)
progesterone biosynthetic process  (ISO)
response to activity  (ISO)
response to alkaloid  (ISO)
response to arsenic-containing substance  (ISO)
response to cadmium ion  (ISO)
response to calcium ion  (ISO)
response to corticosterone  (IBA,ISO)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to fatty acid  (ISO)
response to fungicide  (ISO)
response to herbicide  (ISO)
response to L-ascorbic acid  (ISO)
response to lead ion  (ISO)
response to metal ion  (ISO)
response to nutrient levels  (ISO)
response to organic cyclic compound  (ISO)
response to vitamin E  (ISO)
response to xenobiotic stimulus  (ISO)
steroid biosynthetic process  (IBA,IEA)
steroid metabolic process  (ISO)
testosterone biosynthetic process  (ISO)
toluene metabolic process  (ISO)

References
Additional References at PubMed
PMID:11683717   PMID:14681463   PMID:17060418   PMID:17145712   PMID:17647136   PMID:17728101   PMID:22301074   PMID:22405929   PMID:23581486   PMID:25130044   PMID:27512005   PMID:28877400  
PMID:29576467  


Genomics

Comparative Map Data
HSD3B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14101,565,229 - 101,574,110 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24111,555,576 - 111,564,185 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap4q16-q21NCBI
HSD3B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381119,507,203 - 119,515,058 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1119,507,198 - 119,515,054 (+)EnsemblGRCh38hg38GRCh38
GRCh371120,049,826 - 120,057,681 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361119,851,349 - 119,859,204 (+)NCBINCBI36Build 36hg18NCBI36
Build 341119,761,892 - 119,769,716NCBI
Celera1118,280,577 - 118,288,432 (+)NCBICelera
Cytogenetic Map1p12NCBI
HuRef1117,908,314 - 117,916,173 (+)NCBIHuRef
CHM1_11120,165,347 - 120,173,201 (+)NCBICHM1_1
T2T-CHM13v2.01119,520,389 - 119,528,244 (+)NCBIT2T-CHM13v2.0
Hsd3b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39398,749,672 - 98,767,110 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl398,759,510 - 98,767,110 (-)EnsemblGRCm39 Ensembl
GRCm38398,842,356 - 98,859,794 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl398,852,194 - 98,859,794 (-)EnsemblGRCm38mm10GRCm38
MGSCv37398,656,120 - 98,663,717 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36398,981,255 - 98,987,280 (-)NCBIMGSCv36mm8
Celera3100,188,018 - 100,195,618 (-)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map342.89NCBI
Hsd3b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82188,858,574 - 188,864,694 (-)NCBIGRCr8
mRatBN7.22186,169,864 - 186,175,984 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2186,169,863 - 186,175,999 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2193,825,866 - 193,831,935 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02191,621,665 - 191,627,731 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02186,458,432 - 186,464,495 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
RGSC_v3.42193,500,916 - 193,507,633 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2178,651,833 - 178,657,861 (-)NCBICelera
Cytogenetic Map2q34NCBI

Variants

.
Variants in HSD3B1
182 total Variants

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system hemolymphoid system nervous system renal system reproductive system respiratory system
High
Medium 1
Low 3
Below cutoff 5 1 2 11 1 1

Sequence


Reference Sequences
RefSeq Acc Id: NM_001004049   ⟹   NP_001004049
RefSeq Status: VALIDATED
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.14101,565,229 - 101,573,822 (-)NCBI
Sequence:
RefSeq Acc Id: XM_021088745   ⟹   XP_020944404
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.14101,565,229 - 101,574,110 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: XP_020944404   ⟸   XM_021088745
- Peptide Label: isoform X1
- UniProtKB: A0A8D0NBN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001004049   ⟸   NM_001004049
- UniProtKB: Q9N119 (UniProtKB/Swiss-Prot),   D0G6Y4 (UniProtKB/TrEMBL),   A0A8D0NBN7 (UniProtKB/TrEMBL)
- Sequence:
Protein Domains
3-beta hydroxysteroid dehydrogenase/isomerase


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSSSCG00000006719 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSSSCG00015031274 UniProtKB/TrEMBL
  ENSSSCG00025029902 UniProtKB/Swiss-Prot
  ENSSSCG00030031100 UniProtKB/Swiss-Prot
  ENSSSCG00035070172 UniProtKB/Swiss-Prot
  ENSSSCG00040068674 UniProtKB/TrEMBL
  ENSSSCG00045002042 UniProtKB/Swiss-Prot
  ENSSSCG00050026461 UniProtKB/TrEMBL
  ENSSSCG00055001503 UniProtKB/Swiss-Prot
  ENSSSCG00060035784 UniProtKB/Swiss-Prot
  ENSSSCG00070003287 UniProtKB/Swiss-Prot
Ensembl Transcript ENSSSCT00000007360 ENTREZGENE
  ENSSSCT00000007360.6 UniProtKB/Swiss-Prot
  ENSSSCT00015041478.1 UniProtKB/TrEMBL
  ENSSSCT00015041726.1 UniProtKB/TrEMBL
  ENSSSCT00025040671.1 UniProtKB/Swiss-Prot
  ENSSSCT00030043165.1 UniProtKB/Swiss-Prot
  ENSSSCT00035094806.1 UniProtKB/Swiss-Prot
  ENSSSCT00040093961.1 UniProtKB/TrEMBL
  ENSSSCT00045003183.1 UniProtKB/Swiss-Prot
  ENSSSCT00050035605.1 UniProtKB/TrEMBL
  ENSSSCT00055002747.1 UniProtKB/Swiss-Prot
  ENSSSCT00060048493.1 UniProtKB/Swiss-Prot
  ENSSSCT00070006206.1 UniProtKB/Swiss-Prot
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro 3Beta_OHSteriod_DH/Estase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report ssc:445539 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene HSD3B1 ENTREZGENE
PANTHER BIFUNCTIONAL POLYMYXIN RESISTANCE PROTEIN ARNA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHORT CHAIN DEHYDROGENASE_REDUCTASE FAMILY 42E, MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 3Beta_HSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 3BHS_PIG UniProtKB/Swiss-Prot
  A0A8D0NBN7 ENTREZGENE, UniProtKB/TrEMBL
  D0G6Y4 ENTREZGENE, UniProtKB/TrEMBL
  Q9N119 ENTREZGENE