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

    Gene ID: 101502, updated on 27-Nov-2024

    Summary

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    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 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, Nov 2024]
    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

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    See Hsd3b7 in Genome Data Viewer
    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_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E11369 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134920056-134920165 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134920423-134920532 Neighboring gene ORAI calcium release-activated calcium modulator 3 Neighboring gene SET domain containing 1A Neighboring gene syntaxin 1B Neighboring gene STARR-positive B cell enhancer ABC_E3755 Neighboring gene syntaxin 4A (placental) Neighboring gene STARR-seq mESC enhancer starr_20194

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid function. Shea HC, et al. Proc Natl Acad Sci U S A, 2007 Jul 10. PMID 17601774, Free PMC Article
    2. The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. Schwarz M, et al. J Clin Invest, 2000 Nov. PMID 11067870, Free PMC Article
    3. EBI2-mediated bridging channel positioning supports splenic dendritic cell homeostasis and particulate antigen capture. Yi T, et al. Elife, 2013 May 14. PMID 23682316, Free PMC Article
    4. Oxysterol gradient generation by lymphoid stromal cells guides activated B cell movement during humoral responses. Yi T, et al. Immunity, 2012 Sep 21. PMID 22999953, Free PMC Article
    5. EBI2 augments Tfh cell fate by promoting interaction with IL-2-quenching dendritic cells. Li J, et al. Nature, 2016 May 5. PMID 27147029, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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, 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
    		  
    involved_in regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lipid droplet IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    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
    NP_001407168.1
    NP_001407169.1
    NP_001407170.1
    NP_001407171.1
    NP_001407172.1
    NP_001407173.1
    NP_598704.2

    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)

    1. 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

    2. NM_001420239.1 → NP_001407168.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC149222

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

      Status: VALIDATED

      Source sequence(s)
      AC149222
      UniProtKB/TrEMBL
      D3Z3X1
      Related
      ENSMUSP00000101879.2, ENSMUST00000106272.8

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

      Status: VALIDATED

      Source sequence(s)
      AC149222

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

      Status: VALIDATED

      Source sequence(s)
      AC149222

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

      Status: VALIDATED

      Source sequence(s)
      AC149222

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

      Status: VALIDATED

      Source sequence(s)
      AC149222

    8. 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

    RNA

    1. NR_185150.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC149222
      Related
      ENSMUST00000132702.8

    2. NR_185151.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC149222

    3. NR_185152.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC149222

    4. NR_185153.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC149222

    5. NR_185154.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC149222

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      127399830..127402973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9EQC1.1 GenPept UniProtKB/Swiss-Prot:Q9EQC1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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