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Aliases for NSDHL Gene

Aliases for NSDHL Gene

  • NAD(P) Dependent Steroid Dehydrogenase-Like 2 3
  • Protein H105e3 3 4
  • EC 1.1.1.170 4 64
  • H105E3 3 4
  • Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating 3
  • Short Chain Dehydrogenase/Reductase Family 31E, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 31E 2
  • Member 1 2
  • SDR31E1 3
  • XAP104 3

External Ids for NSDHL Gene

Summaries for NSDHL Gene

Entrez Gene Summary for NSDHL Gene

  • The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for NSDHL Gene

NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like) is a Protein Coding gene. Diseases associated with NSDHL include nsdhl-related disorders and ck syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 3-beta-hydroxy-delta5-steroid dehydrogenase activity and sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity. An important paralog of this gene is SDR42E2.

UniProtKB/Swiss-Prot for NSDHL Gene

  • Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.

Gene Wiki entry for NSDHL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSDHL Gene

Genomics for NSDHL Gene

Genomic Location for NSDHL Gene

Start:
152,830,967 bp from pter
End:
152,869,729 bp from pter
Size:
38,763 bases
Orientation:
Plus strand

Genomic View for NSDHL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NSDHL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSDHL Gene

Regulatory Elements for NSDHL Gene

Proteins for NSDHL Gene

  • Protein details for NSDHL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15738-NSDHL_HUMAN
    Recommended name:
    Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
    Protein Accession:
    Q15738
    Secondary Accessions:
    • D3DWT6
    • O00344

    Protein attributes for NSDHL Gene

    Size:
    373 amino acids
    Molecular mass:
    41900 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NSDHL Gene

Proteomics data for NSDHL Gene at MOPED

Selected DME Specific Peptides for NSDHL Gene

Post-translational modifications for NSDHL Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys96 and Lys191

Other Protein References for NSDHL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for NSDHL Gene

Gene Families for NSDHL Gene

HGNC:
  • SDRE :Short chain dehydrogenase/reductase superfamily / Extended SDR fold

Protein Domains for NSDHL Gene

UniProtKB/Swiss-Prot:

NSDHL_HUMAN
Family:
  • Belongs to the 3-beta-HSD family.:
    • Q15738
genes like me logo Genes that share domains with NSDHL: view

Function for NSDHL Gene

Molecular function for NSDHL Gene

UniProtKB/Swiss-Prot CatalyticActivity: A 3-beta-hydroxysteroid-4-alpha-carboxylate + NAD(P)(+) = a 3-oxosteroid + CO(2) + NAD(P)H
UniProtKB/Swiss-Prot Function: Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.

Enzyme Numbers (IUBMB) for NSDHL Gene

Gene Ontology (GO) - Molecular Function for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
GO:0047012 sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA --
GO:0050662 coenzyme binding --
genes like me logo Genes that share ontologies with NSDHL: view
genes like me logo Genes that share phenotypes with NSDHL: view

miRNA for NSDHL Gene

miRTarBase miRNAs that target NSDHL

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for NSDHL Gene

Localization for NSDHL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSDHL Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Lipid droplet. Note=Trafficking through the Golgi is necessary for ER membrane localization.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSDHL Gene COMPARTMENTS Subcellular localization image for NSDHL gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 2
peroxisome 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid particle IDA 14741744
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with NSDHL: view

Pathways for NSDHL Gene

genes like me logo Genes that share pathways with NSDHL: view

UniProtKB/Swiss-Prot Q15738-NSDHL_HUMAN

  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6

Gene Ontology (GO) - Biological Process for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006694 steroid biosynthetic process --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0007224 smoothened signaling pathway IEA --
GO:0008203 cholesterol metabolic process --
genes like me logo Genes that share ontologies with NSDHL: view

Compounds for NSDHL Gene

(13) HMDB Compounds for NSDHL Gene

Compound Synonyms Cas Number PubMed IDs
3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate
  • 3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
Not Available
3-Keto-4-methylzymosterol
  • 4-methyl-5a-cholesta-8,24-dien-3-one
Not Available
4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4a-carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
Not Available
4a-Methylzymosterol-4-carboxylic acid
  • 4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
Not Available
5a-Cholesta-8,24-dien-3-one
  • 5alpha-cholesta-8,24-dien-3-one
Not Available

(1) Drugbank Compounds for NSDHL Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(4) Novoseek inferred chemical compound relationships for NSDHL Gene

Compound -log(P) Hits PubMed IDs
emopamil 91.3 2
3beta-hydroxysteroid 70.6 3
cholesterol 53.4 10
lipid 0 5
genes like me logo Genes that share compounds with NSDHL: view

Transcripts for NSDHL Gene

Unigene Clusters for NSDHL Gene

NAD(P) dependent steroid dehydrogenase-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NSDHL Gene

No ASD Table

Relevant External Links for NSDHL Gene

GeneLoc Exon Structure for
NSDHL
ECgene alternative splicing isoforms for
NSDHL

Expression for NSDHL Gene

mRNA expression in normal human tissues for NSDHL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSDHL Gene

SOURCE GeneReport for Unigene cluster for NSDHL Gene Hs.57698

mRNA Expression by UniProt/SwissProt for NSDHL Gene

Q15738-NSDHL_HUMAN
Tissue specificity: Brain, heart, liver, lung, kidney, skin and placenta
genes like me logo Genes that share expressions with NSDHL: view

Orthologs for NSDHL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSDHL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSDHL 36
  • 92.96 (n)
  • 90.59 (a)
NSDHL 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NSDHL 36
  • 88.83 (n)
  • 90.42 (a)
NSDHL 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSDHL 36
  • 89.1 (n)
  • 87.67 (a)
NSDHL 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsdhl 36
  • 85.23 (n)
  • 85.87 (a)
Nsdhl 16
Nsdhl 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NSDHL 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSDHL 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsdhl 36
  • 84.76 (n)
  • 85.04 (a)
chicken
(Gallus gallus)
Aves NSDHL 36
  • 74.31 (n)
  • 75.88 (a)
NSDHL 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSDHL 37
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsdhl 36
  • 70.95 (n)
  • 77.31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9643 36
zebrafish
(Danio rerio)
Actinopterygii nsdhl 36
  • 65.27 (n)
  • 67.46 (a)
nsdhl 37
  • 66 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR001W 36
  • 49.48 (n)
  • 40.57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 36
  • 48.32 (n)
  • 40.88 (a)
ERG26 37
  • 37 (a)
OneToMany
ERG26 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18513g 36
  • 47.05 (n)
  • 40.85 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons 3BETAHSD/D2 36
  • 47.73 (n)
  • 42.9 (a)
rice
(Oryza sativa)
Liliopsida Os03g0405000 36
  • 49.75 (n)
  • 42.34 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02693 36
  • 47.92 (n)
  • 39.69 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3F6.02c 36
  • 46.71 (n)
  • 35.03 (a)
Species with no ortholog for NSDHL:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NSDHL Gene

ENSEMBL:
Gene Tree for NSDHL (if available)
TreeFam:
Gene Tree for NSDHL (if available)

Paralogs for NSDHL Gene

Paralogs for NSDHL Gene

Selected SIMAP similar genes for NSDHL Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NSDHL: view

Variants for NSDHL Gene

Sequence variations from dbSNP and Humsavar for NSDHL Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs916042 -- 152,851,624(+) atctt(C/T)catgc intron-variant
rs2027813 -- 152,855,469(+) TGGGC(A/C)TGAGT intron-variant
rs2071254 -- 152,867,231(+) AACGG(A/G)GGACC intron-variant
rs2071255 -- 152,867,882(+) GCTGA(C/T)GAGCT intron-variant
rs2071256 -- 152,867,908(+) TTCAG(C/G)TCACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSDHL Gene

Variant ID Type Subtype PubMed ID
dgv2493e1 CNV Complex 17122850
nsv470373 CNV Gain 18288195
esv25868 CNV Gain 19812545
esv269380 CNV Insertion 20981092
esv273004 CNV Insertion 20981092
nsv7158 CNV Insertion 18451855

Relevant External Links for NSDHL Gene

HapMap Linkage Disequilibrium report
NSDHL
Human Gene Mutation Database (HGMD)
NSDHL
Locus Specific Mutation Databases (LSDB)
NSDHL

Disorders for NSDHL Gene

(2) OMIM Diseases for NSDHL Gene (300275)

UniProtKB/Swiss-Prot

NSDHL_HUMAN
  • Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. {ECO:0000269 PubMed:10710235, ECO:0000269 PubMed:11907515}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • CK syndrome (CKS) [MIM:300831]: A disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. {ECO:0000269 PubMed:21129721}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for NSDHL Gene

Disease -log(P) Hits PubMed IDs
child syndrome 97.3 12
cdpx2 87.3 1
nevi 77.3 3
xanthoma 68.6 1

Relevant External Links for NSDHL

Genetic Association Database (GAD)
NSDHL
Human Genome Epidemiology (HuGE) Navigator
NSDHL
genes like me logo Genes that share disorders with NSDHL: view

Publications for NSDHL Gene

  1. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (PMID: 10710235) Konig A. … Grzeschik K.H. (Am. J. Med. Genet. 2000) 2 3 4 23
  2. Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. (PMID: 12837764) Ohashi M. … Yoshimori T. (J. Biol. Chem. 2003) 2 3 23
  3. Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts. (PMID: 15805545) Cunningham D. … Herman G.E. (J. Lipid Res. 2005) 3 23 25
  4. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. (PMID: 12966526) Hummel M. … Herman G.E. (Am. J. Med. Genet. A 2003) 3 23
  5. A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma. (PMID: 16230564) Mehra S. … Somach S. (Arch Dermatol 2005) 3 23

Products for NSDHL Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NSDHL
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NSDHL
    • Block miRNA regulation of NSDHL using miScript Target Protectors

    Sources for NSDHL Gene

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