======= EXPH5 ======= == Gene Information == * **Official Symbol**: EXPH5 * **Official Name**: exophilin 5 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23086|23086]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8NEV8|Q8NEV8]] * **Interactions**: [[https://thebiogrid.org/search.php?search=EXPH5&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EXPH5|Open PubMed]] * **OMIM**: [[https://omim.org/entry/612878|Open OMIM]] == Function Summary == * **Entrez Summary**: The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. * **UniProt Summary**: May act as Rab effector protein and play a role in vesicle trafficking. No Pfam Domain information is available for this gene. |keratinocyte development| |multivesicular body sorting pathway| |positive regulation of exocytosis| |Rab GTPase binding| |epithelial cell development| |regulation of exocytosis| |positive regulation of protein secretion| |endosome| |keratinocyte differentiation| |positive regulation of peptide secretion| |epidermal cell differentiation| |skin development| |positive regulation of secretion by cell| |epidermis development| |positive regulation of protein transport| |positive regulation of secretion| |positive regulation of establishment of protein localization| |regulation of protein secretion| |regulation of peptide secretion| |regulation of vesicle-mediated transport| |epithelial cell differentiation| |regulation of protein transport| |regulation of peptide transport| |regulation of establishment of protein localization| |regulation of secretion by cell| |regulation of secretion| |positive regulation of transport| |intracellular protein transport| |regulation of protein localization| |epithelium development| |protein transport| |intracellular transport| |peptide transport| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |cell development| |tissue development| |establishment of localization in cell| |nitrogen compound transport| |regulation of transport| |vesicle-mediated transport| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp365|I-BRD9 4μM R07 exp365]]|1.7| |[[:results:exp112|S-DABN 8μM R03 exp112]]|1.77| |[[:results:exp101|Nicotinamide 1000μM R03 exp101]]|1.78| ^Gene^Correlation^ |[[:human genes:r:rrm1|RRM1]]|0.601| 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| == Essentiality in NALM6 == * **Essentiality Rank**: 15231 * **Expression level (log2 read counts)**: 3.3 {{:chemogenomics:nalm6 dist.png?nolink |}}