Homo sapiens Gene: NSDHL
Summary
InnateDB Gene IDBG-89290.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NSDHL
Gene Name NAD(P) dependent steroid dehydrogenase-like
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000147383
Encoded Proteins
NAD(P) dependent steroid dehydrogenase-like
NAD(P) dependent steroid dehydrogenase-like
NAD(P) dependent steroid dehydrogenase-like
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:152830967-152869729
Strand Forward strand
Band q28
Transcripts
ENST00000370274 ENSP00000359297
ENST00000440023 ENSP00000391854
ENST00000432467 ENSP00000396266
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity
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
GO:0050662 coenzyme binding
Biological Process
GO:0001942 hair follicle development
GO:0006694 steroid biosynthetic process
GO:0006695 cholesterol biosynthetic process
GO:0007224 smoothened signaling pathway
GO:0008203 cholesterol metabolic process
GO:0009058 biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
GO:0060716 labyrinthine layer blood vessel development
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid particle
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Cholesterol biosynthesis pathway
Metabolism pathway
KEGG
Steroid biosynthesis pathway
INOH
Glycine Serine metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.57698
RefSeq NM_001129765 NM_015922 XM_006724824
HUGO
OMIM
CCDS CCDS14717
HPRD 02229
IMGT
EMBL
GenPept
RNA Seq Atlas