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Aliases for NSDHL Gene

Aliases for NSDHL Gene

  • NAD(P) Dependent Steroid Dehydrogenase-Like 2 3 5
  • Protein H105e3 3 4
  • EC 1.1.1.170 4 63
  • H105E3 3 4
  • 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

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 Terpenoid backbone biosynthesis. 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 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

Regulatory Elements for NSDHL Gene

Promoters for NSDHL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSDHL on UCSC Golden Path with GeneCards custom track

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

Proteomics data for NSDHL Gene at MOPED

Selected DME Specific Peptides for NSDHL Gene

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

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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:0043231 intracellular membrane-bounded organelle IDA --
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:0044281 small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(15) 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:

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

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, 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 expression patterns with NSDHL: view

Protein tissue co-expression partners for NSDHL Gene

Primer Products

In Situ Assay 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 36
  • 96 (a)
OneToOne
NSDHL 35
  • 92.96 (n)
  • 90.59 (a)
cow
(Bos Taurus)
Mammalia NSDHL 36
  • 90 (a)
OneToOne
NSDHL 35
  • 88.83 (n)
  • 90.42 (a)
dog
(Canis familiaris)
Mammalia NSDHL 35
  • 89.1 (n)
  • 87.67 (a)
NSDHL 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsdhl 16
Nsdhl 36
  • 86 (a)
OneToOne
Nsdhl 35
  • 85.23 (n)
  • 85.87 (a)
oppossum
(Monodelphis domestica)
Mammalia NSDHL 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSDHL 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsdhl 35
  • 84.76 (n)
  • 85.04 (a)
chicken
(Gallus gallus)
Aves NSDHL 35
  • 74.31 (n)
  • 75.88 (a)
NSDHL 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSDHL 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsdhl 35
  • 70.95 (n)
  • 77.31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9643 35
zebrafish
(Danio rerio)
Actinopterygii nsdhl 36
  • 66 (a)
OneToOne
nsdhl 35
  • 65.27 (n)
  • 67.46 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR001W 35
  • 49.48 (n)
  • 40.57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 35
  • 48.32 (n)
  • 40.88 (a)
ERG26 36
  • 37 (a)
OneToMany
ERG26 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18513g 35
  • 47.05 (n)
  • 40.85 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons 3BETAHSD/D2 35
  • 47.73 (n)
  • 42.9 (a)
rice
(Oryza sativa)
Liliopsida Os03g0405000 35
  • 49.75 (n)
  • 42.34 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02693 35
  • 47.92 (n)
  • 39.69 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3F6.02c 35
  • 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

(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
VAR_010207 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)
VAR_010208 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)
VAR_065289 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)
rs2285032 -- 152,864,459(+) CTGAT(A/T)CTGAT intron-variant
rs3827416 -- 152,833,907(+) GAAAT(C/T)AATGC 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

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

HapMap Linkage Disequilibrium report
NSDHL
Human Gene Mutation Database (HGMD)
NSDHL

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

Disorders for NSDHL Gene

MalaCards: The human disease database

(10) 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 nevus and limb defects
ck syndrome
  • x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
nsdhl-related disorders
palmoplantar keratoderma and woolly hair
  • ppkwh
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
  • 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.

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 23 67
  2. 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
  3. 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
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  5. Functional analysis of cholesterol biosynthesis by RNA interference. (PMID: 17498944) Guggenberger C. … Adamski J. (J. Steroid Biochem. Mol. Biol. 2007) 3 23

Products for NSDHL Gene

Sources for NSDHL Gene

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