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Aliases for NSDHL Gene

Aliases for NSDHL Gene

  • NAD(P) Dependent Steroid Dehydrogenase-Like 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 31E, Member 1 2 3
  • Protein H105e3 3 4
  • EC 1.1.1.170 4 61
  • H105E3 3 4
  • Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating 3
  • SDR31E1 3
  • XAP104 3

External Ids for NSDHL Gene

Previous GeneCards Identifiers for NSDHL Gene

  • GC0XP150618
  • GC0XP151670
  • GC0XP151750
  • GC0XP151999
  • GC0XP140816

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 Child Syndrome and Ck Syndrome. Among its related pathways are Metabolism and cholesterol biosynthesis I. GO annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and 3-beta-hydroxy-delta5-steroid dehydrogenase activity. An important paralog of this gene is SDR42E1.

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

Regulatory Elements for NSDHL Gene

Enhancers for NSDHL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF152829 1 ENCODE 0.8 +1.3 1253 4.8 HDGF ATF1 PKNOX1 ARID4B SIN3A DMAP1 BRCA1 YY1 GLIS2 ZNF143 ZNF185 PNMA6A NSDHL
GH0XF152893 1.5 FANTOM5 Ensembl ENCODE 0.2 +65.2 65163 5.7 BCOR KLF1 PKNOX1 TEAD4 ZMYM3 SIN3A GATA3 CTBP1 POLR2A RCOR1 ZNF185 CETN2 NSDHL
GH0XF152878 1.1 ENCODE 0.2 +48.2 48248 1.4 CTCF ATF2 ZNF185 NSDHL
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NSDHL on UCSC Golden Path with GeneCards custom track

Promoters for NSDHL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000073849 234 2800 HDGF ATF1 PKNOX1 ARID4B SIN3A DMAP1 BRCA1 YY1 GLIS2 ZNF143

Genomic Location for NSDHL Gene

Chromosome:
X
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

Genes around NSDHL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSDHL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSDHL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for NSDHL Gene

Q15738:
  • QDLYPALKGV
  • LGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPY

Post-translational modifications for NSDHL Gene

  • Ubiquitination at Lys 96 and Lys 191
  • Modification sites at PhosphoSitePlus

Other Protein References for NSDHL Gene

Antibody Products

  • Abcam antibodies for NSDHL

Domains & Families for NSDHL Gene

Gene Families for NSDHL Gene

Protein Domains for NSDHL Gene

Suggested Antigen Peptide Sequences for NSDHL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15738

UniProtKB/Swiss-Prot:

NSDHL_HUMAN :
  • Belongs to the 3-beta-HSD family.
Family:
  • Belongs to the 3-beta-HSD family.
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:0000252 C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity TAS --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA,TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0047012 sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA --
genes like me logo Genes that share ontologies with NSDHL: view
genes like me logo Genes that share phenotypes with NSDHL: view

Human Phenotype Ontology for NSDHL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NSDHL Gene

miRTarBase miRNAs that target NSDHL

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 5
cytosol 2
peroxisome 2
extracellular 1
lysosome 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 IEA,IDA 14741744
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NSDHL: view

Pathways & Interactions 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:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0007224 smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with NSDHL: view

No data available for SIGNOR curated interactions for NSDHL Gene

Drugs & Compounds for NSDHL Gene

(6) Drugs for NSDHL Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(12) Additional Compounds for NSDHL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate
  • 3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylic acid
  • 3b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylic acid
  • 3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
  • b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
  • beta-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
3-Keto-4-methylzymosterol
  • (5a)-4-methylcholesta-8,24-dien-3-one
  • (5alpha)-4-methylcholesta-8,24-dien-3-one
  • 3-Dehydro-4-methylzymosterol
  • 3-Keto-4-methylzymosterol
  • 4-Methyl-5a-cholesta-8,24-dien-3-one
4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
4a-Methylzymosterol-4-carboxylic acid
  • 4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
  • 4alpha-Methylzymosterol-4-carboxylic acid
5a-Cholesta-8,24-dien-3-one
  • 5alpha-cholesta-8,24-dien-3-one
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for NSDHL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSDHL Gene

This gene is overexpressed in Nasal epithelium (24.2), Bone (9.3), Fetal testis (9.1), and Testis (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NSDHL Gene



Protein tissue co-expression partners for NSDHL Gene

NURSA nuclear receptor signaling pathways regulating expression of NSDHL Gene:

NSDHL

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 expression patterns with NSDHL: view

Primer Products

No data available for mRNA differential expression in normal tissues for NSDHL Gene

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 34 35
  • 92.96 (n)
dog
(Canis familiaris)
Mammalia NSDHL 34 35
  • 89.1 (n)
cow
(Bos Taurus)
Mammalia NSDHL 34 35
  • 88.83 (n)
mouse
(Mus musculus)
Mammalia Nsdhl 34 16 35
  • 85.23 (n)
rat
(Rattus norvegicus)
Mammalia Nsdhl 34
  • 84.76 (n)
oppossum
(Monodelphis domestica)
Mammalia NSDHL 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSDHL 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSDHL 34 35
  • 74.31 (n)
lizard
(Anolis carolinensis)
Reptilia NSDHL 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsdhl 34
  • 70.95 (n)
zebrafish
(Danio rerio)
Actinopterygii nsdhl 34 35
  • 65.27 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9643 34
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR001W 34
  • 49.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 34 35 37
  • 48.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18513g 34
  • 47.05 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons 3BETAHSD/D2 34
  • 47.73 (n)
rice
(Oryza sativa)
Liliopsida Os03g0405000 34
  • 49.75 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02693 34
  • 47.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3F6.02c 34
  • 46.71 (n)
Species where no ortholog for NSDHL was found in the sources mined by GeneCards:
  • 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

(2) 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
rs104894901 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050], Pathogenic 152,865,888(+) TTTTC(A/G)GCCCA reference, missense
rs104894904 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050], Pathogenic 152,865,819(+) TCCAG(C/G)CAGTT reference, missense
rs104894909 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050], Pathogenic 152,858,816(+) CTGTG(C/T)GTCAC reference, missense
rs104894902 Pathogenic 152,865,903(+) ACCCG(C/T)AGTTG reference, stop-gained
rs104894903 Pathogenic 152,850,418(+) GCAGC(C/T)GACAG reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv25868 CNV gain 19812545
esv2758901 CNV gain 17122850
esv3305102 CNV mobile element insertion 20981092
esv3308731 CNV mobile element insertion 20981092
esv3423214 CNV insertion 20981092
nsv470373 CNV gain 18288195
nsv7158 CNV insertion 18451855

Variation tolerance for NSDHL Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSDHL Gene

Human Gene Mutation Database (HGMD)
NSDHL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSDHL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSDHL Gene

Disorders for NSDHL Gene

MalaCards: The human disease database

(8) MalaCards diseases for NSDHL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
child syndrome
  • congenital hemidysplasia with ichthyosiform erythroderma and limb defects
ck syndrome
  • x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
nsdhl-related disorders
children's interstitial lung disease
  • child
verruciform xanthoma of skin
  • cutaneous verruciform xanthoma
- elite association - COSMIC cancer census association via MalaCards
Search NSDHL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NSDHL_HUMAN
  • 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.
  • 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.

Relevant External Links for NSDHL

Genetic Association Database (GAD)
NSDHL
Human Genome Epidemiology (HuGE) Navigator
NSDHL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSDHL
genes like me logo Genes that share disorders with NSDHL: view

No data available for Genatlas for NSDHL Gene

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 22 64
  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 22 64
  3. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. (PMID: 21129721) McLarren K.W. … Boerkoel C.F. (Am. J. Hum. Genet. 2010) 3 4 64
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 46 64

Products for NSDHL Gene

Sources for NSDHL Gene

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