Recombinant Human Spectrin alpha chain, brain (SPTAN1), partial

1. Spectrin may be engaged in regulation of distinct events necessary for the establishment and maturity of the immunological synapse. PMID: 29244882
2. SPTAN1-related disorders comprise a wide spectrum of neurodevelopmental phenotypes ranging from mild to severe and progressive. Spectrin aggregate formation in fibroblasts with mutations in the alpha/beta heterodimerization domain seems to be associated with a severe neurodegenerative course. PMID: 29050398
3. Alpha-spectrin is critical for recruitment of non-ubiquitinated FANCD2 to sites of damage, which has an important role in the repair response and interstrand cross-link repair. PMID: 26297932
4. Studies demonstrate that alpha-IISp plays a critical role in maintaining chromosome stability in cells after DNA interstrand cross-links damage by repairing damage that occurs in both genomic and telomeric DNA. PMID: 25757157
5. These results suggest that ubiquitin C-terminal hydrolase and alphaII-spectrin breakdown product 145 kDa may be useful in assessing outcome after pediatric traumatic brain injury. PMID: 22022780
6. Variations in both alpha-spectrin (SPTA1) and beta-spectrin ( SPTB ) were found in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. PMID: 24193021
7. aggressiveness of MLH1-positive colorectal cancers might be related to SPTAN1. PMID: 24456667
8. hypomyelination of the cerebral white matter was revealed at the age of 1 year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed PMID: 22656320
9. loss of SPTAN1 switches TGF-beta signaling from tumor suppression to tumor promotion by engaging Notch signaling and activating SOX9 in esophageal adenocarcinoma. PMID: 23536563
10. organization of a spectrin-like cytoskeleton is associated with keratinocyte differentiation, and cytoskeleton disruption is mediated by either PKCdelta(Thr505) phosphorylation associated with phosphorylated adducin or due to reduction of endogenous adducin PMID: 22163289
11. In-frame mutations in the C-terminus of SPTAN1 cause a core set of manifestations that include severe intellectual disability, generalized epilepsy, and pontocerebellar atrophy. PMID: 22258530
12. Analysis of alphaII-spectrin breakdown products in cerebrospinal fluid predicts mortality and injury severity in adults following traumatic brain injury. PMID: 20408766
13. findings suggest that pathological aggregation of alpha/beta spectrin heterodimers and abnormal axon initial segment(AIS) integrity resulting from SPTAN1 mutations were involved in pathogenesis of infantile epilepsy PMID: 20493457
14. Fanconi anemia proteins may play an important role in maintaining the stability of alphaIISp in the cell by regulating its cleavage by mu-calpain. PMID: 20518497
15. This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia PMID: 20381070
16. SigA binds to epithelial HEp-2 cells as well as being able to induce fodrin degradation in vitro and in situ, further extending its documented role in the pathogenesis of Shigella infections. PMID: 20011051
17. Review. 120 kDa alpha-fodrin is an important autoantigen in both animal models and Sjogren syndrome patients. Increased caspase cascade activity may be involved in the progression of alpha-fodrin proteolysis and tissue destruction. PMID: 12630566
18. High affinity and slow overall kinetics of association/dissociation of alpha II-spectrin may suit it well to a role in strengthening cell junctions and providing stable anchorage for transmembrane proteins at points specified by cell-adhesion molecules. PMID: 12820899
19. Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA. PMID: 12893251
20. These observations indicate that calpain is activated and reacts with alpha-fodrin as a substrate at the sarcolemma, and plays a key role in modulating sarcolemmal proteins to adapt to the specific conditions in each myopathy. PMID: 15948206
21. The in vivo role of alpha-fodrin autoantigen in primary Sjogren's syndrome was analyzed. PMID: 16192640
22. These studies indicate that alphaSpIISigma( *) may play a role in a number of diverse and important processes in the nucleus and that a deficiency in this protein, as occurs in Fanconi's anemia, could affect a number of critical cellular pathways. PMID: 16889989
23. provide novel insights into spectrin functions by demonstrating the involvement of alphaII-spectrin in cell cycle regulation and actin organization PMID: 18978357
24. The SH3 domain of SPTAN1 is a target for the Fanconi anemia protein, FANCG. PMID: 19102630
25. depletion of alphaIISp in normal cells leads to a number of defects observed in Fanconi anemia cells, such as chromosome instability and a deficiency in cross-link repair. PMID: 19217883
26. fodrin degradation occurs during galectin-1 T cell death and CD45 is essential for fodrin degradation to occur PMID: 19454697
27. This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia. PMID: 19034380

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HGNC: 11273

OMIM: 182810

KEGG: hsa:6709

STRING: 9606.ENSP00000361824

UniGene: Hs.372331