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Hsd17b1 Gene Detail
Summary
  • Symbol
    Hsd17b1
  • Name
    hydroxysteroid (17-beta) dehydrogenase 1
  • Synonyms
    17beta-HSD, Hsd17ba
  • Feature Type
    protein coding gene
  • IDs
    MGI:105077
    NCBI Gene: 15485
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:100969237-100971353 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 64.17 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    23 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105077
protein coding gene Chr11:100968792-100972014 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019177
protein coding gene Chr11:103888433-103890549 (+)
A/J MGP_AJ_G0019145
protein coding gene Chr11:99535687-99537803 (+)
AKR/J MGP_AKRJ_G0019114
protein coding gene Chr11:102632722-102634838 (+)
BALB/cJ MGP_BALBcJ_G0019119
protein coding gene Chr11:100030172-100032288 (+)
C3H/HeJ MGP_C3HHeJ_G0018928
protein coding gene Chr11:102802608-102804724 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019568
protein coding gene Chr11:107104098-107106214 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017194
protein coding gene Chr11:96953762-96955893 (+)
CAST/EiJ MGP_CASTEiJ_G0018482
protein coding gene Chr11:103789103-103791222 (+)
CBA/J MGP_CBAJ_G0018897
protein coding gene Chr11:111568190-111570306 (+)
DBA/2J MGP_DBA2J_G0019009
protein coding gene Chr11:99070717-99072833 (+)
FVB/NJ MGP_FVBNJ_G0018999
protein coding gene Chr11:98613428-98615544 (+)
LP/J MGP_LPJ_G0019078
protein coding gene Chr11:104438002-104440118 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019030
protein coding gene Chr11:111136744-111138860 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019606
protein coding gene Chr11:102951016-102953132 (+)
PWK/PhJ MGP_PWKPhJ_G0018245
protein coding gene Chr11:100121321-100123437 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018037
protein coding gene Chr11:102687355-102689470 (+)
WSB/EiJ MGP_WSBEiJ_G0018531
protein coding gene Chr11:102950267-102952383 (+)



Homology
more
  • Human Ortholog
    HSD17B1, hydroxysteroid 17-beta dehydrogenase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HSD17B1, hydroxysteroid 17-beta dehydrogenase 1
  • Synonyms
    17-beta-HSD, 20-alpha-HSD, E2DH, EDH17B2, EDHB17, HSD17, SDR28C1
  • Links
    NCBI Gene ID: 3292
    neXtProt AC: NX_P14061
    UniProt: P14061

  • Chr Location
    17q21.2; chr17:42552922-42555214 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 2 alleles in 2 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit severe female subfertility with defects in leteunization and progesterone production.
Gene Ontology
(GO)
Classifications
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  • 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
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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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019301 Ensembl Gene Model | MGI Sequence Detail 2117 C57BL/6J ±  kb
    transcript ENSMUST00000019445 Ensembl | MGI Sequence Detail 1339 Not Applicable  
    polypeptide ENSMUSP00000019445 Ensembl | MGI Sequence Detail 344 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      Genomic 3
      cDNA 18
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-24094, MGD-MRK-32117, MGI:700002
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 15
      Gene Ontology 10
      Phenotypes 16
    • Earliest
      J:25103 Deyashiki Y, et al., Molecular cloning and characterization of mouse estradiol 17 beta-dehydrogenase (A-specific), a member of the aldoketoreductase family. J Biol Chem. 1995 May 5;270(18):10461-7
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

    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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    last database update
    07/02/2024
    MGI 6.13
    The Jackson Laboratory