ATP7B [The Human Chemical-Genetic Interaction Map Project]

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======= ATP7B =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ATP7B
  * **<color #00a2e8>Official Name</color>**: ATPase copper transporting beta
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=540|540]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P35670|P35670]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ATP7B&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ATP7B|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606882|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Copper ion transmembrane transporter involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. {ECO:0000269|PubMed:18203200, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876, ECO:0000269|PubMed:26004889}.

<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'>
|Hydrolase|
|HAD|
|HMA|
|E1-E2 ATPase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|copper transmembrane transporter activity, phosphorylative mechanism|
|protein maturation by copper ion transfer|
|sequestering of calcium ion|
|copper ion transmembrane transporter activity|
|copper ion transmembrane transport|
|copper ion import|
|cellular copper ion homeostasis|
|copper ion homeostasis|
|copper ion transport|
|cellular zinc ion homeostasis|
|zinc ion homeostasis|
|lactation|
|response to copper ion|
|copper ion binding|
|body fluid secretion|
|trans-Golgi network membrane|
|cellular transition metal ion homeostasis|
|transition metal ion transport|
|late endosome|
|mammary gland development|
|transition metal ion homeostasis|
|maintenance of location|
|trans-Golgi network|
|basolateral plasma membrane|
|protein maturation|
|cytoplasmic vesicle|
|divalent inorganic cation transport|
|response to metal ion|
|gland development|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|divalent inorganic cation homeostasis|
|regulation of body fluid levels|
|response to inorganic substance|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|cation transmembrane transport|
|Golgi membrane|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|perinuclear region of cytoplasm|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|cation transport|
|cellular homeostasis|
|ion transmembrane transport|
|Golgi apparatus|
|chemical homeostasis|
|secretion|
|mitochondrion|
|transmembrane transport|
|ion transport|
|integral component of plasma membrane|
|ATP binding|
|homeostatic process|
|membrane|
|gene expression|
</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:exp149|SB203580 25μM R03 exp149]]|-1.9|
|[[:results:exp527|Tanespimycin 14μM R08 exp527]]|-1.79|
</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: 0/739
^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>**: 12316
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.9 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ATP7B Expression in NALM6 Cells: 1.9'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>