Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hsd3b7provided by MGI
Official Full Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7provided by MGI
Primary source: MGI:MGI:2141879
See related: Ensembl:ENSMUSG00000042289 AllianceGenome:MGI:2141879
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity. Involved in B cell chemotaxis. Predicted to be located in intracellular membrane-bounded organelle and lipid droplet. Is expressed in several structures, including alimentary system; bladder; facial bone primordium; heart; and liver and biliary system. Human ortholog(s) of this gene implicated in congenital bile acid synthesis defect 1 and intrahepatic cholestasis. Orthologous to human HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 369.2), liver E18 (RPKM 105.2) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 69.74 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (127399830..127402973)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (127800609..127803802)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Findings indicate that CYP7B1 and HSD3B7, as well as CH25H, have essential roles in controlling oxysterol production in lymphoid tissues.
Title: Oxysterol gradient generation by lymphoid stromal cells guides activated B cell movement during humoral responses.
Catalyzes two reactions required for inversion of the cholesterol 3beta-hydroxyl group to the 3alpha-hydroxyl of bile acids; its stereochemical alteration eliminates cholesterol absorption in the gut and enterohepatic circulation feedback regulation.
Title: Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid function.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

General gene information

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Markers

BB098564 (e-PCR)
- UniSTS:185733

AI195443 (e-PCR)
- UniSTS:179652

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in B cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in steroid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 3 beta-hydroxysteroid dehydrogenase type 7

Names: 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; c(27) 3-beta-HSD; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase

NP_001035774.1

EC 1.1.1.181

NP_001407168.1

EC 1.1.1.181

NP_001407169.1

EC 1.1.1.181

NP_001407170.1

EC 1.1.1.181

NP_001407171.1

EC 1.1.1.181

NP_001407172.1

EC 1.1.1.181

NP_001407173.1

EC 1.1.1.181

NP_598704.2

EC 1.1.1.181

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001040684.2 → NP_001035774.1 3 beta-hydroxysteroid dehydrogenase type 7 isoform b

Status: VALIDATED

Source sequence(s)

AC149222

Conserved Domains (2) summary

pfam01073
Location:2 → 256

3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

cl21454
Location:1 → 334

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001420239.1 → NP_001407168.1 3 beta-hydroxysteroid dehydrogenase type 7 isoform b

Status: VALIDATED

Source sequence(s)

AC149222
NM_001420240.1 → NP_001407169.1 3 beta-hydroxysteroid dehydrogenase type 7 isoform c

Status: VALIDATED

Source sequence(s)

AC149222

UniProtKB/TrEMBL

D3Z3X1
NM_001420241.1 → NP_001407170.1 3 beta-hydroxysteroid dehydrogenase type 7 isoform d

Status: VALIDATED

Source sequence(s)

AC149222
NM_001420242.1 → NP_001407171.1 3 beta-hydroxysteroid dehydrogenase type 7 isoform e

Status: VALIDATED

Source sequence(s)

AC149222
NM_001420243.1 → NP_001407172.1 3 beta-hydroxysteroid dehydrogenase type 7 isoform e

Status: VALIDATED

Source sequence(s)

AC149222
NM_001420244.1 → NP_001407173.1 3 beta-hydroxysteroid dehydrogenase type 7 isoform e

Status: VALIDATED

Source sequence(s)

AC149222
NM_133943.3 → NP_598704.2 3 beta-hydroxysteroid dehydrogenase type 7 isoform a

See identical proteins and their annotated locations for NP_598704.2

Status: VALIDATED

Source sequence(s)

AC149222

Consensus CDS

CCDS40145.1

UniProtKB/Swiss-Prot

A2RTR5, Q9EQC1

Related

ENSMUSP00000036245.6, ENSMUST00000046863.12

Conserved Domains (2) summary

cd09811
Location:11 → 361

3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs

pfam01073
Location:13 → 283

3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family