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    Nsdhl NAD(P) dependent steroid dehydrogenase-like [ Rattus norvegicus (Norway rat) ]

    Gene ID: 309262, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Nsdhlprovided by RGD
    Official Full Name
    NAD(P) dependent steroid dehydrogenase-likeprovided by RGD
    Primary source
    RGD:1359337
    See related
    EnsemblRapid:ENSRNOG00000057814 AllianceGenome:RGD:1359337
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in cholesterol metabolic process. Predicted to act upstream of or within hair follicle development; labyrinthine layer blood vessel development; and smoothened signaling pathway. Predicted to be located in lipid droplet. Predicted to be active in endoplasmic reticulum. 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
    Biased expression in Liver (RPKM 1015.9), Kidney (RPKM 76.6) and 5 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Nsdhl in Genome Data Viewer
    Location:
    Xq37
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (155817301..155848224)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (150775034..150807161)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (152933118..152964399)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene similar human chromosome 15 open reading frame 48 Neighboring gene centrin 2 Neighboring gene zinc finger protein 185 Neighboring gene PNMA family member 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Liu XY, et al. Nat Genet, 1999 Jun. PMID 10369263
    2. Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme. Caldas H, et al. Mol Genet Metab, 2005 Jan. PMID 15639195
    3. Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. II. Investigations into the nature and mechanism of the XO production. Phillips RJ, et al. Genet Res, 1974 Aug. PMID 4435359
    4. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Herman GE. Hum Mol Genet, 2003 Apr 1. PMID 12668600
    5. Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development. Jiang F, et al. Hum Mol Genet, 2006 Nov 15. PMID 17028112

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Homology

    Clone Names

    • MGC105618

    Gene Ontology Provided by RGD

    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
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within hair follicle development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within labyrinthine layer blood vessel development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within smoothened signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lipid droplet ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
    NP_001009399.1
    XP_017457511.1
    XP_038955611.1
    XP_063136039.1

    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_001009399.1 → NP_001009399.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

      See identical proteins and their annotated locations for NP_001009399.1

      Status: PROVISIONAL

      Source sequence(s)
      BC087626
      UniProtKB/Swiss-Prot
      Q5PPL3
      UniProtKB/TrEMBL
      A6KSY6
      Related
      ENSRNOP00000069662.1, ENSRNOT00000091154.3
      Conserved Domains (1) summary
      cl21454
      Location:29 → 355
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      155817301..155848224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017602022.3 → XP_017457511.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X2

    2. XM_039099683.2 → XP_038955611.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X3

      Conserved Domains (1) summary
      cl21454
      Location:1 → 201
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. XM_063279969.1 → XP_063136039.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1

      UniProtKB/Swiss-Prot
      Q5PPL3
      UniProtKB/TrEMBL
      A6KSY6
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5PPL3.1 GenPept UniProtKB/Swiss-Prot:Q5PPL3

    Gene LinkOut

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

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