HSD3B7 [The Human Chemical-Genetic Interaction Map Project]

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======= HSD3B7 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HSD3B7
  * **<color #00a2e8>Official Name</color>**: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=80270|80270]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H2F3|Q9H2F3]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HSD3B7&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HSD3B7|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607764|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7- alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein- coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. {ECO:0000250|UniProtKB:Q9EQC1, ECO:0000269|PubMed:11067870}.

<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'>
|Polysacc synt 2|
|3Beta HSD|
|KR|
|NmrA|
|NAD binding 4|
|adh short|
|RmlD sub bind|
|Epimerase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity|
|B cell chemotaxis|
|3-beta-hydroxy-delta5-steroid dehydrogenase activity|
|cholesterol catabolic process|
|sterol catabolic process|
|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|
|bile acid biosynthetic process|
|steroid catabolic process|
|bile acid metabolic process|
|lymphocyte chemotaxis|
|alcohol catabolic process|
|lymphocyte migration|
|organic hydroxy compound catabolic process|
|lipid droplet|
|cholesterol metabolic process|
|oxidoreductase activity|
|steroid biosynthetic process|
|secondary alcohol metabolic process|
|sterol metabolic process|
|leukocyte chemotaxis|
|organic hydroxy compound biosynthetic process|
|monocarboxylic acid biosynthetic process|
|cell chemotaxis|
|steroid metabolic process|
|lipid catabolic process|
|carboxylic acid biosynthetic process|
|organic acid biosynthetic process|
|alcohol metabolic process|
|leukocyte migration|
|small molecule catabolic process|
|organic hydroxy compound metabolic process|
|organic cyclic compound catabolic process|
|monocarboxylic acid metabolic process|
|chemotaxis|
|taxis|
|lipid biosynthetic process|
|small molecule biosynthetic process|
|carboxylic acid metabolic process|
|endoplasmic reticulum membrane|
|cell migration|
|oxidation-reduction process|
|oxoacid metabolic process|
|organic acid metabolic process|
|cell motility|
|localization of cell|
|lipid metabolic process|
|organic cyclic compound biosynthetic process|
|locomotion|
|movement of cell or subcellular component|
|small molecule metabolic process|
|organic substance catabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:ruvbl2|RUVBL2]]|0.463|
|[[:human genes:r:rrm1|RRM1]]|0.432|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4051
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.52 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HSD3B7 Expression in NALM6 Cells: 2.52'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>