======= NSDHL ======= == Gene Information == * **Official Symbol**: NSDHL * **Official Name**: N/AD(P) dependent steroid dehydrogenase-like * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=50814|50814]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q15738|Q15738]] * **Interactions**: [[https://thebiogrid.org/search.php?search=NSDHL&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NSDHL|Open PubMed]] * **OMIM**: [[https://omim.org/entry/300275|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. {ECO:0000269|PubMed:14506130}. |3Beta HSD| |RmlD sub bind| |Polysacc synt 2| |NAD binding 4| |Epimerase| |C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity| |sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity| |4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity| |4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity| |3-beta-hydroxy-delta5-steroid dehydrogenase activity| |oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor| |labyrinthine layer blood vessel development| |placenta blood vessel development| |cholesterol biosynthetic process| |secondary alcohol biosynthetic process| |labyrinthine layer development| |sterol biosynthetic process| |hair follicle development| |smoothened signaling pathway| |skin epidermis development| |hair cycle process| |molting cycle process| |lipid droplet| |embryonic placenta development| |molting cycle| |hair cycle| |alcohol biosynthetic process| |cholesterol metabolic process| |oxidoreductase activity| |steroid biosynthetic process| |secondary alcohol metabolic process| |sterol metabolic process| |placenta development| |organic hydroxy compound biosynthetic process| |steroid metabolic process| |alcohol metabolic process| |in utero embryonic development| |skin development| |epidermis development| |reproductive structure development| |reproductive system development| |embryonic organ development| |organic hydroxy compound metabolic process| |blood vessel development| |vasculature development| |cardiovascular system development| |lipid biosynthetic process| |small molecule biosynthetic process| |chordate embryonic development| |embryo development ending in birth or egg hatching| |developmental process involved in reproduction| |circulatory system development| |endoplasmic reticulum membrane| |oxidation-reduction process| |embryo development| |endoplasmic reticulum| |epithelium development| |lipid metabolic process| |organic cyclic compound biosynthetic process| |reproductive process| |reproduction| |small molecule metabolic process| |tissue development| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp483|FTY720 3μM R08 exp483]]|-2.05| |[[:results:exp452|Azithromycin 100μM R08 exp452]]|-1.89| |[[:results:exp124|GSK343 3μM R03 exp124]]|-1.78| |[[:results:exp525|Sulforaphane 9μM R08 exp525]]|-1.78| |[[:results:exp441|GSK-J4 1.5μM R08 exp441]]|1.7| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 14501 * **Expression level (log2 read counts)**: 4.43 {{:chemogenomics:nalm6 dist.png?nolink |}}