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    Nsdhl NAD(P) dependent steroid dehydrogenase-like [ Mus musculus (house mouse) ]

    Gene ID: 18194, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Nsdhlprovided by MGI
    Official Full Name
    NAD(P) dependent steroid dehydrogenase-likeprovided by MGI
    Primary source
    MGI:MGI:1099438
    See related
    Ensembl:ENSMUSG00000031349 AllianceGenome:MGI:1099438
    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
    Also known as
    Bpa; Str; H105E3; XAP104
    Summary
    Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Acts upstream of or within several processes, including cholesterol metabolic process; hair follicle development; and labyrinthine layer blood vessel development. Located in endoplasmic reticulum and lipid droplet. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; integumental system; and nervous system. Used to study Bloch-Sulzberger syndrome and X-linked chondrodysplasia punctata 1. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Orthologous to human NSDHL (NAD(P) dependent steroid dehydrogenase-like). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in genital fat pad adult (RPKM 30.5), liver E18 (RPKM 28.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nsdhl in Genome Data Viewer
    Location:
    X A7.3; X 37.29 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (71962127..72002134)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (72918521..72958528)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene MAGE family member A9, pseudogene Neighboring gene centrin 2 Neighboring gene zinc finger protein 185 Neighboring gene microRNA 2137 Neighboring gene STARR-seq mESC enhancer starr_47340 Neighboring gene predicted gene, 52421 Neighboring gene paraneoplastic antigen family 5

    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 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. Statins repress hedgehog signaling in medulloblastoma with no bone toxicities. Fan Q, et al. Oncogene, 2021 Mar. PMID 33649536
    2. Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments. Phillips RJ, et al. Genet Res, 1973 Aug. PMID 4588955
    3. Homologous genes for X-linked chondrodysplasia punctata in man and mouse. Happle R, et al. Hum Genet, 1983. PMID 6682087
    4. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Smahi A, et al. Hum Mol Genet, 1994 Feb. PMID 8004094
    5. Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. Aradhya S, et al. Am J Med Genet, 2000 Mar 20. PMID 10756353

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Statins repress hedgehog signaling in medulloblastoma with no bone toxicities.
      Title: Statins repress hedgehog signaling in medulloblastoma with no bone toxicities.
    2. Suppression of NSDHL attenuates adipogenesis with a downregulation of LXR-SREBP1 pathway in 3T3-L1 cells.
      Title: Suppression of NSDHL attenuates adipogenesis with a downregulation of LXR-SREBP1 pathway in 3T3-L1 cells.
    3. The findings indicate that MSMO1 and NSDHL are novel modulators of adipogenesis.
      Title: RNA-Seq analysis reveals a negative role of MSMO1 with a synergized NSDHL expression during adipogenesis of 3T3-L1.
    4. The role of NSDHL and cholesterol in postnatal central nervous system development is shown.
      Title: Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.
    5. A novel SNP in Nsdhl suggests that Nsdhl is the causal gene for the HDL level QTL.
      Title: Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice.
    6. This work identifies a critical role for SC4MOL and NSDHL in the regulation of EGFR signaling and endocytic trafficking and suggests novel strategies to increase the potency of EGFR antagonists in tumors
      Title: Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
    7. Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl.
      Title: Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
    8. While NSDHL-deficient cells in the mosaic Bpa(1H) female are able to survive and differentiate during embryonic development, they are subject to negative selection over the life of the animal.
      Title: Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
    9. implicate the hedgehog signaling pathway in the pathogenesis of the placental defects in NSDHL deficiency
      Title: Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables C-3 sterol dehydrogenase (C-4 sterol decarboxylase) 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
    		  
    enables sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within hair follicle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within labyrinthine layer blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
    Names
    NAD(P)-dependent steroid dehydrogenase-like protein
    bare patches
    striated
    NP_035071.3

    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_010941.3 → NP_035071.3  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

      See identical proteins and their annotated locations for NP_035071.3

      Status: VALIDATED

      Source sequence(s)
      AK140930, AL671908
      Consensus CDS
      CCDS30190.1
      UniProtKB/Swiss-Prot
      O55109, Q9R1J0
      UniProtKB/TrEMBL
      Q3US15, Q7TPY3, Q8VE30, U3M993
      Related
      ENSMUSP00000033715.5, ENSMUST00000033715.5
      Conserved Domains (2) summary
      cd09813
      Location:29 → 355
      3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
      pfam01073
      Location:31 → 281
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      71962127..72002134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R1J0.1 GenPept UniProtKB/Swiss-Prot:Q9R1J0

    Gene LinkOut

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

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