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Hsd3b1 Gene Detail
Summary
  • Symbol
    Hsd3b1
  • Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
  • Synonyms
    D3Ertd383e
  • Feature Type
    protein coding gene
  • IDs
    MGI:96233
    NCBI Gene: 15492
  • Member of
    Hsd3b cluster
  • Alliance
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:98759510-98767110 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 3, 42.89 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    101 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96233
protein coding gene Chr3:98749672-98767110 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027660
protein coding gene Chr3:99893340-99902646 (-)
A/J MGP_AJ_G0027619
protein coding gene Chr3:96728697-96737075 (-)
AKR/J MGP_AKRJ_G0027585
protein coding gene Chr3:99054090-99062301 (-)
BALB/cJ MGP_BALBcJ_G0027632
protein coding gene Chr3:96529828-96537337 (-)
C3H/HeJ MGP_C3HHeJ_G0027361
protein coding gene Chr3:99395546-99407174 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028075
protein coding gene Chr3:103611684-103623201 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025416
protein coding gene Chr3:93048947-93056380 (-)
CAST/EiJ MGP_CASTEiJ_G0026817
protein coding gene Chr3:98542383-98549994 (-)
CBA/J MGP_CBAJ_G0027336
protein coding gene Chr3:107294094-107303728 (-)
DBA/2J MGP_DBA2J_G0027479
protein coding gene Chr3:95999378-96007191 (-)
FVB/NJ MGP_FVBNJ_G0027447
protein coding gene Chr3:93953646-93965773 (-)
LP/J MGP_LPJ_G0027586
protein coding gene Chr3:101271325-101280519 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027477
protein coding gene Chr3:113374097-113383267 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028130
protein coding gene Chr3:98608227-98617625 (-)
PWK/PhJ MGP_PWKPhJ_G0026544
protein coding gene Chr3:95789686-95797347 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026366
protein coding gene Chr3:96742520-96749784 (-)
WSB/EiJ MGP_WSBEiJ_G0026897
protein coding gene Chr3:99168072-99180690 (-)



Homology
more
  • Human Ortholog
    HSD3B1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
  • Vertebrate Orthologs
    6
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HSD3B1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
  • Synonyms
    3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
  • Links
    NCBI Gene ID: 3283
    neXtProt AC: NX_P14060
    UniProt: P14060

  • Chr Location
    1p12; chr1:119507198-119515058 (+)  GRCh38

  • Human Ortholog
    HSD3B2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • Synonyms
    HSD3B, HSDB, SDR11E2
  • Links
    NCBI Gene ID: 3284
    neXtProt AC: NX_P26439
    UniProt: P26439

  • Chr Location
    1p12; chr1:119414931-119423035 (+)  GRCh38

Human Diseases
more
  • Diseases
    2 with human HSD3B1,HSD3B2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000027871 Ensembl Gene Model | MGI Sequence Detail 7601 C57BL/6J ±  kb
transcript ENSMUST00000107016 Ensembl | MGI Sequence Detail 1855 Not Applicable  
polypeptide ENSMUSP00000102630 Ensembl | MGI Sequence Detail 373 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 60
    Genomic 2
    cDNA 49
    Primer pair 9

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-10946, MGI:1196249
References
more
  • Summaries
    All 104
    Developmental Gene Expression 67
    Diseases 1
    Gene Ontology 6
    Phenotypes 5
  • Earliest
    J:29466 Bain PA, et al., Multiple forms of mouse 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase and differential expression in gonads, adrenal glands, liver, and kidneys of both sexes. Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):8870-4
  • Latest
    J:343800 Souali-Crespo S, et al., Loss of NR5A1 in mouse Sertoli cells after sex determination changes cellular identity and induces cell death by anoikis. Development. 2023 Dec 15;150(24)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory