SPECC1 Gene Summary [Human]
The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | SPECC1 |
| Official Name | sperm antigen with calponin homology and coiled-coil domains 1 [Source:HGNC Symbol;Acc:HGNC:30615] |
| Ensembl ID | ENSG00000128487 |
| Bio databases IDs | |
| Aliases | sperm antigen with calponin homology and coiled-coil domains 1, sperm antigen HCMOGT 1, cytokinesis and spindle organization B |
| Synonyms | 2810012G08RIK, B230396K10Rik, CYTSB, HCMOGT-1, LOC101055684, NSP, NSP5, RGD1309718, sperm antigen with calponin homology and coiled-coil domains 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 SPECC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rabaptin-like protein
- Calponin homology domain
- prefoldin
- Hyaluronan mediated motility receptor N-terminal
- Uso1 / p115 like vesicle tethering protein, C terminal region
- calponin homology (CH) domain superfamily
- helix-rich Mycoplasma protein
- Snapin/Pallidin
- Putative golgin subfamily A member 2-like protein 5
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- neoplasia
- diffuse large B-cell lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- schizophrenia
- endometriosis
role in cell
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- fibrillar center
- intracellular membrane-bounded organelle
- Cytoplasm
- apical compartment
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPECC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- blastocyst development
- associative learning
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- apical part of cell
- microtubule organizing center
- intracellular membrane-bounded organelle
- membrane
- cytosol
- filamentous actin
- fibrillar center
- nucleoplasm