SPECC1L
Summary: This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sperm antigen with calponin homology and coiled-coil domains 1 like | MIM:614140 | Ensembl:ENSG00000100014 | HGNC:HGNC:29022 | PA164718673 | 22q11.23 |
GO terms in SPECC1L
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005815 | microtubule organizing center |
| CC | IEA | GO:0005819 | spindle |
| CC | IDA | GO:0005829 | cytosol |
| CC | IEA | GO:0005921 | gap junction |
| CC | IDA | GO:0015629 | actin cytoskeleton |
| CC | IBA | GO:0031941 | filamentous actin |
| BP | IEA | GO:0007049 | cell cycle |
| BP | IDA | GO:0007155 | cell adhesion |
| BP | IBA | GO:0030036 | actin cytoskeleton organization |
| BP | IEA | GO:0051301 | cell division |
Gene expression in normal tissue: SPECC1L
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SPECC1L
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SPECC1L
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