FKBP8 Gene Summary [Human]
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FKBP8 |
| Official Name | FKBP prolyl isomerase 8 [Source:HGNC Symbol;Acc:HGNC:3724] |
| Ensembl ID | ENSG00000105701 |
| Bio databases IDs | |
| Aliases | FKBP prolyl isomerase 8, FK506-binding protein 8 (38kD) |
| Synonyms | FK506 binding protein 8, FKBP-38, FKBP prolyl isomerase 8, FKBPR38, mFKBP38 |
| 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 FKBP8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FKBP-type peptidyl-prolyl cis-trans isomerase
- TPR repeat
- FK506 binding domain
- calmodulin binding
- Tetratricopeptide repeats
- calmodulin binding domain
- transmembrane domain
- protein domain specific binding
- protein binding
- tetratricopeptide repeat
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infantile hemangioma formation
- cyanosis
- gastroesophageal reflux
- anophthalmia
- metastasis
- microphthalmia
- clubfoot
- atopic dermatitis
- scoliosis
- exencephaly
role in cell
- cell death
- binding in
- activation in
- specification
- function
- differentiation
- apoptosis
- replication in
- signaling in
- signal transduction in
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
- membranous web
- endoplasmic reticulum mitochondria contact site
- mitochondrial envelope
- intracellular compartment
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FKBP8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- dorsal/ventral neural tube patterning
- smoothened signaling pathway
- protein folding
- positive regulation of BMP signaling pathway
- neuron fate specification
- protein localization in mitochondrion
- negative regulation of protein phosphorylation
- BMP signaling pathway
- negative regulation of apoptotic process
- apoptotic process
- camera-type eye development
- regulation of gene expression
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- mitochondrial membrane
- mitochondrion
- membrane
- cytosol
- endomembrane system
- endoplasmic reticulum
- macromolecular complex
- mitochondrial envelope
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- identical protein binding
- peptidyl-prolyl cis-trans isomerase activity
- protein binding
- protein binding involved in protein folding
- metal ion binding