Hsd17b1 MGI Mouse Gene Detail - MGI:105077 - hydroxysteroid (17-beta) dehydrogenase 1

Symbol

Hsd17b1
Name

hydroxysteroid (17-beta) dehydrogenase 1
Synonyms

17beta-HSD, Hsd17ba

Feature Type

protein coding gene
IDs

MGI:105077
NCBI Gene: 15485
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr11:100969237-100971353 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 64.17 cM
Mapping Data

5 experiments

SNPs within 2kb

141 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:5210

NCBI Gene ID: 3292

neXtProt AC: NX_P14061

UniProt: P14061
Chr Location

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

MGI Vertebrate Homology

Hsd17b1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HSD17B1
Protein SuperFamily

17beta-HSD
Gene Tree

Hsd17b1

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Phenotype Summary

29 phenotypes from 2 alleles in 2 genetic backgrounds
16 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

5
Targeted

5
Genomic Mutations

3 involving Hsd17b1
Incidental Mutations

APF
Find Mice (IMSR)

14 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a knock-out allele exhibit severe female subfertility with defects in leteunization and progesterone production.

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All GO Annotations

35
GO References

9

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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

878
Tissues

123
cDNA Data

19
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN hsd17b1

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All Sequences

37
RefSeq

4
UniProt

4
CCDS

CCDS25445.1

Ensembl

ENSMUSG00000019301 (Evidence)
NCBI Gene

15485

			Length	Strain/Species	Flank
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

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UniProt

4 Sequences
Protein Ontology

PR:000008773 17-beta-hydroxysteroid dehydrogenase type 1

(term hierarchy)
EC

1.1.1.51, 1.1.1.62
InterPro Domains

IPR011348 17beta-dehydrogenase

IPR036291 NAD(P)-binding domain superfamily

IPR020904 Short-chain dehydrogenase/reductase, conserved site

IPR002347 Short-chain dehydrogenase/reductase SDR

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All nucleic 26

Genomic 3

cDNA 19

Primer pair 4

Microarray probesets 3

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MGD-MRK-24094, MGD-MRK-32117, MGI:700002

Summaries

All 67

Developmental Gene Expression 15

Gene Ontology 9

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

TSS for Hsd17b1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr105033	Chr11:100969180-100969187 (+)	-53 bp
Tssr105034	Chr11:100969189-100969234 (+)	-25 bp
Tssr105035	Chr11:100969239-100969248 (+)	7 bp
Tssr105036	Chr11:100969249-100969261 (+)	18 bp
Tssr105037	Chr11:100969263-100969272 (+)	31 bp
Tssr105038	Chr11:100970015-100970027 (+)	784 bp
Tssr105039	Chr11:100970505-100970515 (+)	1,273 bp

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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