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Ask your administrator if you think this is wrong. ======= NSDHL ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: NSDHL * **<color #00a2e8>Official Name</color>**: N/AD(P) dependent steroid dehydrogenase-like * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=50814|50814]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q15738|Q15738]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NSDHL&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NSDHL|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300275|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. {ECO:0000269|PubMed:14506130}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |3Beta HSD| |RmlD sub bind| |Polysacc synt 2| |NAD binding 4| |Epimerase| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |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| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^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| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> 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| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 14501 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.43 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='NSDHL Expression in NALM6 Cells: 4.43'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1