EXPH5

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.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics 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

Expression Distribution

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