| Gene Information | |
|---|---|
| Gene Name | SPTBN1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2364 |
| Protein Names | Spectrin beta chain, non-erythrocytic 1 (Beta-II spectrin) (Fodrin beta chain) (Spectrin, non-erythroid beta chain 1) |
| Target Name | spectrin non-erythroid beta chain 1 |
| Target Type | Clinical trial target |
| Gene Age | 987 ( ENSG00000115306 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q01082 |
| Gene Card | SPTBN1 |
| Uniprot ID | Q01082 |
| Pfam | PF00307; PF15410; PF00435 |
| In ASD | no |
| Allosteric Prediction | yes (1.023291773) |
| Ortholog in Animals | Alpaca_ SPTBN1 ( ortholog_one2one ) Dog_ SPTBN1 ( ortholog_one2one ) GuineaPig_ SPTBN1 ( ortholog_one2one ) Macaque_ SPTBN1 ( ortholog_one2one ) Mouse_ Sptbn1 ( ortholog_one2one ) Pig_ SPTBN1 ( ortholog_one2one ) Rat_ Sptbn1 ( ortholog_one2one ) |
| Ohnologs | SPTB, SPTBN2 |
| Paralogs | DSP, SPTBN5, ACTN4, MICAL2, DMD, SYNE3, GAS2L2, SPTBN2, FLNB, SPTAN1, SYNE2, PLEC, EPPK1, SYNE1, CLMN, DYTN, MICAL3, PKHD1, SMTNL2, DRP2, UTRN, PKHD1L1, ACTN2, ACTN3, MICAL1, MACF1, ACTN1, DST, SPTB, GAS2L3, FLNC, FLNA, DTNA, SPTA1, DTNB, SPTBN4 |
| Tissue | NA |
| Tissue Specificity | Isoform 2 is present in brain, lung and kidney (at protein level). {ECO:0000269|PubMed:11665863}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1AA2 (X-ray 2.00A ) 1BKR (X-ray 1.10A ) 3EDV (X-ray 1.95A ) |
| DBSNP | rs1572690133 rs1029360897 rs1052790 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q62261}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000250|UniProtKB:Q62261}. Cytoplasm, cytosol {ECO:0000269|PubMed:34211179}. Cell membrane {ECO:0000269|PubMed:34211179}. Note=Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes. {ECO:0000250|UniProtKB:Q62261}.; [Isoform 2]: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |