FAM134B [The Human Chemical-Genetic Interaction Map Project]

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======= FAM134B =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RETREG1
  * **<color #00a2e8>Official Name</color>**: reticulophagy regulator 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54463|54463]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H6L5|Q9H6L5]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FAM134B&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FAM134B|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613114|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720). Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins (PubMed:26040720). Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720). {ECO:0000269|PubMed:19838196, ECO:0000269|PubMed:26040720}.

<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'>
|Reticulon|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|reticulophagy|
|selective autophagy|
|organelle disassembly|
|cis-Golgi network|
|sensory perception of pain|
|integral component of endoplasmic reticulum membrane|
|negative regulation of neuron apoptotic process|
|macroautophagy|
|regulation of neuron apoptotic process|
|negative regulation of neuron death|
|autophagy|
|process utilizing autophagic mechanism|
|nuclear body|
|regulation of neuron death|
|cellular component disassembly|
|nucleolus|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|sensory perception|
|negative regulation of cell death|
|endoplasmic reticulum|
|nervous system process|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of cell death|
|cellular catabolic process|
|system process|
</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:exp244|SB743921 0.001μM R05 exp244]]|-1.8|
</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>**: 17806
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.03 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FAM134B Expression in NALM6 Cells: 4.03'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>