EXPH5 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | EXPH5 |
| Official Name | exophilin 5 [Source:HGNC Symbol;Acc:HGNC:30578] |
| Ensembl ID | ENSG00000110723 |
| Bio databases IDs | |
| Aliases | exophilin 5, synaptotagmin-like homologue lacking C2 domains b |
| Synonyms | AC079869.22gm5, B130009M24RIK, E030050P12, EBS4, EXOPHILIN 5, Kiaa0624, RGD1560308, SLAC2-B |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EXPH5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme binding
- protein binding
- Slp homology domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- autosomal recessive nonspecific epidermolysis bullosa
- hepatocellular carcinoma
- hereditary disorder
- idiopathic scoliosis
- diabetic nephropathy
- ulcerative colitis
- renal clear cell adenocarcinoma
- renal clear cell cancer
regulated by
- calcitriol
- THZ531
role in cell
- exocytosis by
- development
- function
- secretion
- association in
- association
- redistribution
- sorting
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EXPH5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multivesicular body sorting pathway
- positive regulation of protein secretion
- intracellular protein transport
- keratinocyte development
- positive regulation of exocytosis
Cellular Component
Where in the cell the gene product is active
- endosome
Molecular Function
What the gene product does at the molecular level
- small GTPase binding