EHBP1 Gene Summary [Human]
This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | EHBP1 |
| Official Name | EH domain binding protein 1 [Source:HGNC Symbol;Acc:HGNC:29144] |
| Ensembl ID | ENSG00000115504 |
| Bio databases IDs | |
| Aliases | EH domain binding protein 1 |
| Synonyms | AF424697, EH domain binding protein 1, Flj21950, HPC12, KIAA0903, NACSIN, RGD1310604 |
| 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 EHBP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-terminal C2 in EEIG1 and EHBP1 proteins
- Calponin homology domain
- Bivalent Mical/EHBP Rab binding domain
- NPF motif
- calponin homology (CH) domain superfamily
- 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
- prostatic carcinoma
- prostate cancer
- epithelial cancer
- depressive disorder
- cleft lip
- metabolic syndrome X
- myocardial infarction
- essential tremor
- hemorrhoid
- pervasive developmental disorder
regulated by
- camptothecin
- calcitriol
- SHH
role in cell
- size
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
- Plasma Membrane
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EHBP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transport
- endocytosis
Cellular Component
Where in the cell the gene product is active
- endosome
- cytosol
- plasma membrane
- nucleoplasm