PHLDB1 Gene Summary [Human]
Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in basal cortex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | PHLDB1 |
| Official Name | pleckstrin homology like domain family B member 1 [Source:HGNC Symbol;Acc:HGNC:23697] |
| Ensembl ID | ENSG00000019144 |
| Bio databases IDs | |
| Aliases | pleckstrin homology like domain family B member 1 |
| Synonyms | D330037A14RIK, KIAA0638, LL5, LL5A, LL5alpha, OI23, pleckstrin homology like domain family B member 1, pleckstrin homology-like domain, family B, member 1 |
| 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 PHLDB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPEC
- Coiled-coil region of CCDC155 or KASH
- Domain of unknown function (DUF4515)
- Inner membrane component of T3SS, cytoplasmic domain
- Ezrin/radixin/moesin, alpha-helical domain
- PspA/IM30 family
- Hyaluronan mediated motility receptor N-terminal
- protein binding
- Pleckstrin homology-like domain
- forkhead associated (FHA) domain superfamily
- Spectrin repeats
- Vacuolar (H+)-ATPase G subunit
- FHA domain
- Trichohyalin-plectin-homology domain
- Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
- PH domain
- Apolipoprotein A1/A4/E domain
- Valyl tRNA synthetase tRNA binding arm
- Domain of unknown function (DUF4200)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- age-related hearing loss
- multiple sclerosis
- glioma
- glioma formation
- non-small cell lung carcinoma
- lung adenocarcinoma
- osteogenesis imperfecta type XXIII
- systemic lupus erythematosus
- non-small cell lung cancer
role in cell
- phosphorylation in
- organization
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
- intracellular membrane-bounded organelle
- perinuclear region
- Plasma Membrane
- cytoplasmic bridges
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHLDB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of epithelial to mesenchymal transition
- regulation of gastrulation
- regulation of microtubule cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- intercellular bridge
- intracellular membrane-bounded organelle
- cytosol
- basal cortex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding