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 |
|---|---|---|---|---|---|
| spectrin alpha, non-erythrocytic 1 | MIM:182810 | Ensembl:ENSG00000197694 | HGNC:HGNC:11273 | PA36102 | 9q34.11 |
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 |
| MF | HDA | GO:0045296 | cadherin binding |
| BP | TAS | GO:0000165 | MAPK cascade |
| BP | TAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | IEA | GO:0007010 | cytoskeleton organization |
| BP | TAS | GO:0007411 | axon guidance |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IEA | GO:0051693 | actin filament capping |
| CC | TAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0008091 | spectrin |
| CC | IDA | GO:0015630 | microtubule cytoskeleton |
| CC | TAS | GO:0016020 | membrane |
| CC | TAS | GO:0035580 | specific granule lumen |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | HDA | GO:1903561 | extracellular vesicle |
| CC | TAS | GO:1904724 | tertiary granule lumen |
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 |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-264870 | Caspase-mediated cleavage of cytoskeletal proteins |
| reactome | R-HSA-373753 | Nephrin family interactions |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-5357801 | Programmed Cell Death |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5673001 | RAF/MAP kinase cascade |
| reactome | R-HSA-5683057 | MAPK family signaling cascades |
| reactome | R-HSA-5684996 | MAPK1/MAPK3 signaling |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-6807878 | COPI-mediated anterograde transport |
| reactome | R-HSA-75153 | Apoptotic execution phase |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
| wikipathways | WP314 | Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation |
| pid | caspase_pathway | Caspase Cascade in Apoptosis |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD61 | Kinetin riboside | 5 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD889 | Compound 7d-cis | 3 |
| iGMDRD387 | CHIR-99021 | 2 |
| iGMDRD772 | BRD4770 | 3 |
| iGMDRD151 | CHM-1 | 4 |
| iGMDRD433 | Lexibulin | 2 |
| iGMDRD494 | Neopeltolide | 4 |
| iGMDRD781 | Sirolimus | 1 |
| iGMDRD144 | NSC95397 | 3 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD188 | Piperlongumine | 4 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD598 | QS-11 | 2 |
| iGMDRD524 | ISX-9 | 3 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD318 | PAC-1 | 4 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD351 | GW843682X | 6 |
| iGMDRD499 | PDMP | 3 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 3 |
| iGMDRD607 | Ubistatin B | 2 |
| iGMDRD307 | Manumycin A | 3 |
| iGMDRD405 | PIK-75 | 3 |
| iGMDRD532 | Olaparib | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 2 |
| iGMDRD662 | JQ-1 | 2 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD286 | Nsc 632839 | 6 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD42 | Vorinostat | 2 |
| iGMDRD82 | Quiflapon | 3 |
| iGMDRD505 | Pevonedistat | 3 |
| iGMDRD147 | Prima-1 | 2 |
| iGMDRD552 | AZD-1775 | 2 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD271 | Brefeldin A | 3 |
| iGMDRD202 | Curcumin | 6 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD705 | Nakiterpiosin | 4 |
| iGMDRD221 | Tamoxifen | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SPTAN1
CLASSFICATION
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