ID:SPTN1_HUMAN DESCRIPTION: RecName: Full=Spectrin alpha chain, non-erythrocytic 1; AltName: Full=Alpha-II spectrin; AltName: Full=Fodrin alpha chain; AltName: Full=Spectrin, non-erythroid alpha subunit; FUNCTION: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. SUBUNIT: Like erythrocyte spectrin, the spectrin-like proteins are capable of forming dimers which can further associate to tetramers. Interacts with isoform 1 of ACP1. Interacts with CALM and EMD. Interacts (via C-terminal spectrin repeats) with TRPC4. Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1 (By similarity). INTERACTION: P40692:MLH1; NbExp=7; IntAct=EBI-351450, EBI-744248; Q01082:SPTBN1; NbExp=7; IntAct=EBI-351450, EBI-351561; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells (By similarity). PTM: Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro (By similarity). DISEASE: Defects in SPTAN1 are the cause of epileptic encephalopathy early infantile type 5 (EIEE5) [MIM:613477]. EIEE5 is a disorder characterized by seizures associated with hypsarrhythmia profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia. SIMILARITY: Belongs to the spectrin family. SIMILARITY: Contains 3 EF-hand domains. SIMILARITY: Contains 1 SH3 domain. SIMILARITY: Contains 23 spectrin repeats. SEQUENCE CAUTION: Sequence=BAD93097.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13813
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK300386 - Homo sapiens cDNA FLJ61399 complete cds, highly similar to Spectrin alpha chain, brain. AK307676 - Homo sapiens cDNA, FLJ97624. AK294753 - Homo sapiens cDNA FLJ59116 complete cds, highly similar to Spectrin alpha chain, brain. BC034956 - Homo sapiens cDNA clone IMAGE:4821017, containing frame-shift errors. AB191262 - Homo sapiens SPTAN1 mRNA for non-erythrocytic spectrin alpha, complete cds. AB209860 - Homo sapiens mRNA for spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) variant protein. BC051801 - Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin), mRNA (cDNA clone IMAGE:5211391), partial cds. J05243 - Human nonerythroid alpha-spectrin (SPTAN1) mRNA, complete cds. BC053521 - Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin), mRNA (cDNA clone MGC:51928 IMAGE:5529391), complete cds. GQ891543 - Homo sapiens clone HEL-S-264 epididymis secretory sperm binding protein mRNA, complete cds. U83867 - Human alpha II spectrin mRNA, complete cds. AB463282 - Synthetic construct DNA, clone: pF1KB5523, Homo sapiens SPTAN1 gene for spectrin, alpha, non-erythrocytic 1, without stop codon, in Flexi system. AF075058 - Homo sapiens full length insert cDNA YO67D02. JD150542 - Sequence 131566 from Patent EP1572962. JD254205 - Sequence 235229 from Patent EP1572962. JD142276 - Sequence 123300 from Patent EP1572962. M18627 - Human alpha-fodrin gene, partial cds. M24773 - Human alpha-fodrin mRNA, partial cds. U26396 - Human fetal alpha II spectrin mRNA, partial cds. AL110273 - Homo sapiens mRNA; cDNA DKFZp564P0562 (from clone DKFZp564P0562). AK026484 - Homo sapiens cDNA: FLJ22831 fis, clone KAIA4161. M19725 - Human nonerythroid alpha-spectrin mRNA, 3' end. X86901 - H.sapiens mRNA for alpha-spectrin. AK309836 - Homo sapiens cDNA, FLJ99877. AK310696 - Homo sapiens cDNA, FLJ17738. AK126576 - Homo sapiens cDNA FLJ44613 fis, clone BRACE2012814, highly similar to Spectrin alpha chain. JD519869 - Sequence 500893 from Patent EP1572962. JD140476 - Sequence 121500 from Patent EP1572962. JD323360 - Sequence 304384 from Patent EP1572962. JD113464 - Sequence 94488 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_tnfr1Pathway - TNFR1 Signaling Pathway h_ucalpainPathway - uCalpain and friends in Cell spread h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors h_PDZsPathway - Synaptic Proteins at the Synaptic Junction h_fasPathway - FAS signaling pathway ( CD95 )
Reactome (by CSHL, EBI, and GO)
Protein Q13813 (Reactome details) participates in the following event(s):
R-HSA-202967 Caspase mediated cleavage of alpha-II-Fodrin R-HSA-451403 Interaction of nephrin with adherens junction-associated proteins R-HSA-6798749 Exocytosis of specific granule lumen proteins R-HSA-6798745 Exocytosis of tertiary granule lumen proteins R-HSA-391868 Dephosphorylation of NCAM1 bound pFyn R-NUL-420388 Dephosphorylation of NCAM1 bound pFyn R-HSA-391865 Recruitment of FAK to NCAM1:Fyn in lipid rafts R-HSA-391871 Autophosphorylation of NCAM1 bound Fyn R-HSA-392751 L1 linked to actin cytoskeleton by ankyrin R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex R-NUL-420398 Autophosphorylation of NCAM1 bound Fyn R-HSA-391866 Phosphorylation of FAK by Src kinase R-HSA-392051 Recruitment of Grb2 to pFAK:NCAM1 R-HSA-392053 SOS binds Grb2 bound to pFAK:NCAM1 R-HSA-373739 Ankyrins link voltage-gated sodium and potassium channels to spectrin and L1 R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin R-HSA-392054 NCAM1:pFAK:Grb2:Sos-mediated nucleotide exchange of Ras R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange R-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins R-HSA-373753 Nephrin family interactions R-HSA-111465 Apoptotic cleavage of cellular proteins R-HSA-6798695 Neutrophil degranulation R-HSA-375165 NCAM signaling for neurite out-growth R-HSA-1500931 Cell-Cell communication R-HSA-75153 Apoptotic execution phase R-HSA-168249 Innate Immune System R-HSA-445095 Interaction between L1 and Ankyrins R-HSA-6807878 COPI-mediated anterograde transport R-HSA-422475 Axon guidance R-HSA-109581 Apoptosis R-HSA-168256 Immune System R-HSA-373760 L1CAM interactions R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-1266738 Developmental Biology R-HSA-5357801 Programmed Cell Death R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-5673001 RAF/MAP kinase cascade R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-5684996 MAPK1/MAPK3 signaling R-HSA-597592 Post-translational protein modification R-HSA-5683057 MAPK family signaling cascades R-HSA-392499 Metabolism of proteins R-HSA-162582 Signal Transduction
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
