SPTAN1
Summary: Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:182810 Ensembl IDEnsembl:ENSG00000197694 HGNC IDHGNC:HGNC:11273 PHARMGKB IDPA36102 Map Location9q34.11 | |||||
GO terms in SPTAN1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003779 | actin binding |
| MF | TAS | GO:0005088 | Ras guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0005200 | structural constituent of cytoskeleton |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005516 | calmodulin binding |
Gene expression in normal tissue: SPTAN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SPTAN1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | deathpathway | induction of apoptosis through dr3 and dr4/5 death receptors |
| biocarta | hivnefpathway | hiv-1 nef: negative effector of fas and tnf |
| biocarta | ucalpainpathway | ucalpain and friends in cell spread |
| reactome | R-HSA-109581 | Apoptosis |
| reactome | R-HSA-111465 | Apoptotic cleavage of cellular proteins |
| reactome | R-HSA-1266738 | Developmental Biology |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SPTAN1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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