Mus musculus Gene: Nsdhl
Summary
InnateDB Gene IDBG-151446.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Nsdhl
Gene Name NAD(P) dependent steroid dehydrogenase-like
Synonyms AI747449; Bpa; H105E3; Str; XAP104
Species Mus musculus
Ensembl Gene ENSMUSG00000031349
Encoded Proteins
NAD(P) dependent steroid dehydrogenase-like
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000147383:
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:72918557-72958514
Strand Forward strand
Band A7.3
Transcripts
ENSMUST00000033715 ENSMUSP00000033715
ENSMUST00000155663
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0008831 dTDP-4-dehydrorhamnose reductase 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:0044237 cellular metabolic process
GO:0045226 extracellular polysaccharide biosynthetic 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
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Metabolism pathway
Metabolism of lipids and lipoproteins pathway
Cholesterol biosynthesis pathway
KEGG
Steroid biosynthesis pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Cholesterol biosynthesis pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Cholesterol biosynthesis pathway
KEGG
Steroid biosynthesis pathway
INOH
Glycine Serine metabolism pathway
PID NCI
Cross-References
SwissProt Q9R1J0
TrEMBL Q3US15
UniProt Splice Variant
Entrez Gene 18194
UniGene
RefSeq NM_010941
OMIM
CCDS CCDS30190
HPRD
IMGT
MGI ID MGI:1099438
MGI Symbol Nsdhl
EMBL AF100198 AK140930 AL021127 CH466624 KF356400
GenPept AAD38448 AGV54894 BAE24522 CAA15948 EDL26557
RNA Seq Atlas 18194