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

Summary

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, Apr 2022]
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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Statins repress hedgehog signaling in medulloblastoma with no bone toxicities.
Title: Statins repress hedgehog signaling in medulloblastoma with no bone toxicities.
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.
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.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Spontaneous (3) 1 citation
Targeted (1) 1 citation
Chemically induced (ENU) (2) 1 citation
Radiation induced (5) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI747449 (e-PCR)
- UniSTS:164668

Mmp1a (e-PCR), detects polymorphism
- UniSTS:265621

NoName (e-PCR)
- UniSTS:238035

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 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	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
acts_upstream_of_or_within 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 lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
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
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sterol biosynthetic process	IEA Inferred from Electronic Annotation more info

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 lipid droplet	IDA Inferred from Direct Assay more info	PubMed
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: sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Names: NAD(P)-dependent steroid dehydrogenase-like protein; bare patches; striated

NP_035071.3

EC 1.1.1.170

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_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