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

Gene ID: 309262, updated on 3-Apr-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
Ensembl: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, Apr 2022]
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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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-hydroxy-delta5-steroid dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity IEA
Inferred from Electronic Annotation
more info
  
enables 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity IEA
Inferred from Electronic Annotation
more info
  
enables 4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) 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 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
    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

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