SPTB

From Wikipedia, the free encyclopedia

Spectrin, beta, erythrocytic (includes spherocytosis, clinical type I)

PDB rendering based on 1s35.

Available structures: 1s35

Identifiers

Symbol(s)

SPTB; HSpTB1

External IDs

OMIM: 182870 MGI: 98387 HomoloGene: 295

Gene ontology
Molecular Function:	• structural constituent of cytoskeleton • protein binding • actin filament binding
Cellular Component:	• membrane fraction • cytoskeleton • spectrin • membrane • protein complex
Biological Process:	• barbed-end actin filament capping

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000347 (mRNA)
NP_000338 (protein)

NM_013675 (mRNA)
NP_038703 (protein)

Location

Chr 14: 64.28 - 64.42 Mb

Chr 12: 77.5 - 77.63 Mb

Pubmed search

[1]

[2]

Spectrin, beta, erythrocytic (includes spherocytosis, clinical type I), also known as SPTB, is a human gene.^[1]

[edit] References

^ Entrez Gene: SPTB spectrin, beta, erythrocytic (includes spherocytosis, clinical type I).

[edit] Further reading

Bennett V, Baines AJ (2001). "Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues.". Physiol. Rev. 81 (3): 1353-92. PMID 11427698.
Kanzaki A, Rabodonirina M, Yawata Y, et al. (1992). "A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216).". Blood 80 (8): 2115-21. PMID 1391962.
Speicher DW, Weglarz L, DeSilva TM (1992). "Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site.". J. Biol. Chem. 267 (21): 14775-82. PMID 1634521.
Gallagher PG, Tse WT, Costa F, et al. (1991). "A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain.". J. Biol. Chem. 266 (23): 15154-9. PMID 1840591.
Tse WT, Lecomte MC, Costa FF, et al. (1990). "Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.". J. Clin. Invest. 86 (3): 909-16. PMID 1975598.
Yoon SH, Kentros CG, Prchal JT (1990). "Identification of an unusual deletion within homologous repeats of human reticulocyte beta-spectrin and probable peptide polymorphism.". Gene 91 (2): 297-302. PMID 1976574.
Garbarz M, Tse WT, Gallagher PG, et al. (1991). "Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.". J. Clin. Invest. 88 (1): 76-81. PMID 2056132.
Tse WT, Gallagher PG, Pothier B, et al. (1991). "An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).". Blood 78 (2): 517-23. PMID 2070088.
Winkelmann JC, Chang JG, Tse WT, et al. (1990). "Full-length sequence of the cDNA for human erythroid beta-spectrin.". J. Biol. Chem. 265 (20): 11827-32. PMID 2195026.
Fukushima Y, Byers MG, Watkins PC, et al. (1990). "Assignment of the gene for beta-spectrin (SPTB) to chromosome 14q23----q24.2 by in situ hybridization.". Cytogenet. Cell Genet. 53 (4): 232-3. PMID 2209094.
Winkelmann JC, Costa FF, Linzie BL, Forget BG (1990). "Beta spectrin in human skeletal muscle. Tissue-specific differential processing of 3' beta spectrin pre-mRNA generates a beta spectrin isoform with a unique carboxyl terminus.". J. Biol. Chem. 265 (33): 20449-54. PMID 2243099.
Coetzer T, Palek J, Lawler J, et al. (1990). "Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.". Blood 75 (11): 2235-44. PMID 2346784.
Winkelmann JC, Leto TL, Watkins PC, et al. (1988). "Molecular cloning of the cDNA for human erythrocyte beta-spectrin.". Blood 72 (1): 328-34. PMID 3390609.
Prchal JT, Morley BJ, Yoon SH, et al. (1987). "Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin.". Proc. Natl. Acad. Sci. U.S.A. 84 (21): 7468-72. PMID 3478706.
Pothier B, Morlé L, Alloisio N, et al. (1987). "Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis.". Blood 69 (6): 1759-65. PMID 3580577.
Wolfe LC, John KM, Falcone JC, et al. (1982). "A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis.". N. Engl. J. Med. 307 (22): 1367-74. PMID 6215583.
Speicher DW, Marchesi VT (1984). "Erythrocyte spectrin is comprised of many homologous triple helical segments.". Nature 311 (5982): 177-80. PMID 6472478.
Carlier MF, Simon C, Cassoly R, Pradel LA (1984). "Interaction between microtubule-associated protein tau and spectrin.". Biochimie 66 (4): 305-11. PMID 6743699.
Goodman SR, Shiffer KA, Casoria LA, Eyster ME (1982). "Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis.". Blood 60 (3): 772-84. PMID 7104494.
Schischmanoff PO, Winardi R, Discher DE, et al. (1995). "Defining of the minimal domain of protein 4.1 involved in spectrin-actin binding.". J. Biol. Chem. 270 (36): 21243-50. PMID 7673158.