TIMM8A [The Human Chemical-Genetic Interaction Map Project]

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======= TIMM8A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TIMM8A
  * **<color #00a2e8>Official Name</color>**: translocase of inner mitochondrial membrane 8A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1678|1678]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60220|O60220]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TIMM8A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TIMM8A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300356|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development. {ECO:0000269|PubMed:11489896, ECO:0000269|PubMed:15254020}.

<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'>
|zf-Tim10 DDP|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|chaperone-mediated protein transport|
|mitochondrial intermembrane space|
|mitochondrial inner membrane|
|mitochondrion|
|protein transport|
|peptide transport|
|amide transport|
|establishment of protein localization|
|nitrogen compound transport|
</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:exp538|ZLN024 50μM R08 exp538]]|-1.73|
|[[:results:exp59|UMK57 1μM R01 exp59]]|1.7|
|[[:results:exp525|Sulforaphane 9μM R08 exp525]]|1.73|
|[[:results:exp15|Cycloheximide 0.2μM R00 exp15]]|1.83|
|[[:results:exp216|Erlotinib 10μM R05 exp216]]|1.86|
|[[:results:exp71|KU-0063794 3.8μM R02 exp71]]|1.91|
|[[:results:exp224|CB-839 10μM R05 exp224]]|2.08|
|[[:results:exp242|Radicicol 0.16μM R05 exp242]]|2.11|
|[[:results:exp233|EPZ-5676 30μM R05 exp233]]|2.17|
|[[:results:exp467|CAY10603 0.55μM R08 exp467]]|2.33|
|[[:results:exp97|BI-6727 0.0125μM R03 exp97]]|3.1|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:parl|PARL]]|0.433|
|[[:human genes:s:slc25a20|SLC25A20]]|0.43|
|[[:human genes:s:slc30a9|SLC30A9]]|0.416|
|[[:human genes:c:ccdc58|CCDC58]]|0.414|
|[[:human genes:t:timm17a|TIMM17A]]|0.407|
|[[:human genes:c:c4orf29|C4orf29]]|0.403|
|[[:human genes:c:crls1|CRLS1]]|0.402|
|[[:human genes:a:atad3a|ATAD3A]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 494/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|21/28|
|blood|21/26|
|bone|18/26|
|breast|22/30|
|central nervous system|26/49|
|cervix|3/4|
|colorectal|10/17|
|esophagus|10/11|
|fibroblast|1/1|
|gastric|11/14|
|kidney|10/18|
|liver|13/19|
|lung|50/72|
|lymphocyte|14/16|
|ovary|19/25|
|pancreas|19/22|
|peripheral nervous system|10/15|
|plasma cell|11/12|
|prostate|1/1|
|skin|12/20|
|soft tissue|6/9|
|thyroid|1/2|
|upper aerodigestive|17/22|
|urinary tract|16/28|
|uterus|4/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1937
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.06 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TIMM8A Expression in NALM6 Cells: 5.06'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>