SPG7 [The Human Chemical-Genetic Interaction Map Project]

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======= SPG7 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SPG7
  * **<color #00a2e8>Official Name</color>**: SPG7 matrix AAA peptidase subunit, paraplegin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6687|6687]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UQ90|Q9UQ90]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SPG7&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SPG7|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602783|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735). {ECO:0000269|PubMed:26387735, ECO:0000305}.

<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'>
|AAA|
|FtsH ext|
|Peptidase M41|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|m-AAA complex|
|mitochondrial permeability transition pore complex|
|mitochondrial outer membrane permeabilization involved in programmed cell death|
|positive regulation of mitochondrial membrane permeability|
|positive regulation of membrane permeability|
|mitochondrial calcium ion transmembrane transport|
|anterograde axonal transport|
|axonal transport|
|axon cytoplasm|
|axo-dendritic transport|
|regulation of mitochondrial membrane permeability|
|peptidase activity|
|regulation of membrane permeability|
|metalloendopeptidase activity|
|mitochondrial membrane organization|
|unfolded protein binding|
|transport along microtubule|
|cytoskeleton-dependent intracellular transport|
|microtubule-based transport|
|calcium ion transmembrane transport|
|mitochondrial transport|
|calcium ion transport|
|microtubule-based movement|
|divalent metal ion transport|
|divalent inorganic cation transport|
|mitochondrial inner membrane|
|mitochondrion organization|
|inorganic cation transmembrane transport|
|cation transmembrane transport|
|metal ion transport|
|inorganic ion transmembrane transport|
|microtubule-based process|
|cation transport|
|zinc ion binding|
|membrane organization|
|ion transmembrane transport|
|programmed cell death|
|cell death|
|mitochondrion|
|proteolysis|
|transmembrane transport|
|ion transport|
|ATP binding|
|intracellular transport|
|movement of cell or subcellular component|
|establishment of localization in cell|
</modal>
\\

 === CRISPR Data ===
<button type='primary' 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'>
^Screen^Score^
|[[:results:exp25|Oligomycin-A 2μM R00 exp25]]|-3.34|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|-2.7|
|[[:results:exp22|MLN-4924 2μM R00 exp22]]|-2.53|
|[[:results:exp359|FK-506 30μM R07 exp359]]|-2.2|
|[[:results:exp242|Radicicol 0.16μM R05 exp242]]|-2.1|
|[[:results:exp492|iCRT14 30μM R08 exp492]]|-1.91|
|[[:results:exp248|UM0131023 0.05μM R05 exp248]]|-1.88|
|[[:results:exp26|Oligomycin-A 20μM R00 exp26]]|-1.86|
|[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|-1.81|
|[[:results:exp17|DABN 20μM R00 exp17]]|-1.78|
|[[:results:exp68|Clomiphene 4.4μM R02 exp68]]|-1.71|
|[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|1.77|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:polr2j3|POLR2J3]]|0.486|
|[[:human genes:h:hgc6.3|HGC6.3]]|0.467|
</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>**: 6633
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.82 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SPG7 Expression in NALM6 Cells: 6.82'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>