Property Summary

NCBI Gene PubMed Count 81
PubMed Score 241.12
PubTator Score 157.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
psoriasis -1.300 5.2e-04
osteosarcoma -3.259 1.1e-06
posterior fossa group A ependymoma -2.700 8.0e-19
glioblastoma -3.000 2.5e-09
medulloblastoma -2.700 8.2e-11
atypical teratoid / rhabdoid tumor -3.000 1.6e-13
medulloblastoma, large-cell -2.800 3.8e-06
primitive neuroectodermal tumor -2.700 1.6e-06
pediatric high grade glioma -2.800 3.7e-10
pilocytic astrocytoma -2.400 5.0e-09
lung adenocarcinoma 1.200 1.9e-02
mucosa-associated lymphoid tissue lympho... 1.149 2.1e-02

Gene RIF (24)

PMID Text
24193021 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.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
22164239 analysis of glycosylation of erythrocyte spectrin and its modification in visceral leishmaniasis
21738695 Data postulate that direct interactions between spectrin ankBDn and PE-rich domains play an important role in stabilizing the structure of the spectrin-based membrane skeleton.
21412925 Results suggest that it is possible for cellular proteins to differentially associate with the C-termini of different beta-spectrin isoforms to regulate alpha- and beta-spectrin association to form functional spectrin tetramers.
20724481 through the use of an ATP-driven phospholipid translocase (flippase), erythrocytes have evolved a protective mechanism against spectrin glycation and thus maintain their optimal membrane function during their long circulatory life span
20459687 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20164196 CD45 lateral mobility is regulated by the spectrin-ankyrin cytoskeleton of T cells
19910543 Observational study of gene-disease association. (HuGE Navigator)
19538529 DNA analysis of SPTB in hereditary spherocytosis subjects with decreased SPTB mRNA levels revealed the presence of 5 previously undescribed mutations: R1756X, 781delT and IVS22nt-4G>A, 1502insA & IVS20nt-2A>G
19168783 The putative coupling of flexibility and ligand binding suggests a mechanism by which spectrin might participate in mechanosensory regulation.
19141864 The structure of the ankyrin ZU5 domain shows a novel structure containing a beta core.
18202182 The spectrin tetramer can be modeled as a soft polymer with a unique flat force-extension profile over the range of biologically important lengths.
17977835 This model supports the hypothesis that initial docking of the correct alpha and beta repeats from among many very similar repeats in both subunits is driven primarily by long range electrostatic interactions.
17520478 The results indicate that the whole ankyrin-sensitive lipid-binding site of beta-spectrin exhibits a helical conformation revealing a distinct 3(10)-helix contribution at its N-terminus.
16476728 analysis of conformational stabilities of the structural repeats of erythroid spectrin
16060676 Binding sites for both protein 4.1R and actin are located in both of the beta I-spectrin calponin homology domains, (CH1 and CH2).
15492010 analysis of erythroid alpha and beta spectrin chaperone activity and prodan binding
15065869 This study identifies the precise sites of all significant phosphorylation events on beta-spectrin and has determined that these phosphorylation events apparently occur in a tightly regulated sequential order.
12655374 the repeats of five human beta-spectrins have been analysed
12354383 The spectrin-ankyrin skeleton controls CD45 surface display and interleukin-2 production
12119179 A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin
12038451 Important region in the beta-spectrin C-terminus for association with the alpha chain and for spectrin tetramer formation is defined.

AA Sequence

MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTFTKWVNSHLAR      1 - 70
VSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTKGKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVD     71 - 140
GNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALLLWCQMKTAGYPHVNVTNFTSSWKDGLAFNA    141 - 210
LIHKHRPDLIDFDKLKDSNARHNLEHAFNVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKM    211 - 280
KVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLLTWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTV    281 - 350
EKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKL    351 - 420
EQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRALEDLAQELEK    421 - 490
ENYHDQKRITARKDNILRLWSYLQELLQSRRQRLETTLALQKLFQDMLHSIDWMDEIKAHLLSAEFGKHL    491 - 560
LEVEDLLQKHKLMEADIAIQGDKVKAITAATLKFTEGKGYQPCDPQVIQDRISHLEQCFEELSNMAAGRK    561 - 630
AQLEQSKRLWKFFWEMDEAESWIKEKEQIYSSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLEQIFQEA    631 - 700
HGMVARKQFGHPQIEARIKEVSAQWDQLKDLAAFCKKNLQDAENFFQFQGDADDLKAWLQDAHRLLSGED    701 - 770
VGQDEGATRALGKKHKDFLEELEESRGVMEHLEQQAQGFPEEFRDSPDVTHRLQALRELYQQVVAQADLR    771 - 840
QQRLQEALDLYTVFGETDACELWMGEKEKWLAEMEMPDTLEDLEVVQHRFDILDQEMKTLMTQIDGVNLA    841 - 910
ANSLVESGHPRSREVKQYQDHLNTRWQAFQTLVSERREAVDSALRVHNYCVDCEETSKWITDKTKVVEST    911 - 980
KDLGRDLAGIIAIQRKLSGLERDVAAIQARVDALERESQQLMDSHPEQKEDIGQRQKHLEELWQGLQQSL    981 - 1050
QGQEDLLGEVSQLQAFLQDLDDFQAWLSITQKAVASEDMPESLPEAEQLLQQHAGIKDEIDGHQDSYQRV   1051 - 1120
KESGEKVIQGQTDPEYLLLGQRLEGLDTGWNALGRMWESRSHTLAQCLGFQEFQKDAKQAEAILSNQEYT   1121 - 1190
LAHLEPPDSLEAAEAGIRKFEDFLGSMENNRDKVLSPVDSGNKLVAEGNLYSDKIKEKVQLIEDRHRKNN   1191 - 1260
EKAQEASVLLRDNLELQNFLQNCQELTLWINDKLLTSQDVSYDEARNLHNKWLKHQAFVAELASHEGWLE   1261 - 1330
NIDAEGKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARSSDLRLQTHADLNKWISAMED   1331 - 1400
QLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFAQVPSMGEEGGDADLSIEKRFLDLLEPLGRR   1401 - 1470
KKQLESSRAKLQISRDLEDETLWVEERLPLAQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQR   1471 - 1540
GQQLVEAAEIDCQDLEERLGHLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISD   1541 - 1610
EIPKDEEGAIVMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAE   1611 - 1680
ERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETGAIGQERVDNV   1681 - 1750
NAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLHRYFYTGAEILGLIDEKHREL   1751 - 1820
PEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVATRLQTAYAGEKAEAIQNKEQEVSAAWQALLD   1821 - 1890
ACAGRRTQLVDTADKFRFFSMARDLLSWMESIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFS   1891 - 1960
ACLELGESLLQRQHQASEEIREKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEP   1961 - 2030
YLASGDFGHTVDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQIAERPAEETGPQEEEGETAG   2031 - 2100
EAPVSHHAATERTSPVSLWSRLSSSWESLQPEPSHPY                                    2101 - 2137
//

Text Mined References (86)

PMID Year Title
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24193021 2014 Variations in both ?-spectrin (SPTA1) and ?-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
22164239 2011 Glycosylation of erythrocyte spectrin and its modification in visceral leishmaniasis.
21738695 2011 Key amino acid residues of ankyrin-sensitive phosphatidylethanolamine/phosphatidylcholine-lipid binding site of ?I-spectrin.
21412925 2011 Apparent structural differences at the tetramerization region of erythroid and nonerythroid beta spectrin as discriminated by phage displayed scFvs.
21269460 2011 Initial characterization of the human central proteome.
20724481 2010 ATP-dependent mechanism protects spectrin against glycation in human erythrocytes.
20459687 2010 Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20197550 2010 Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex.
20164196 2010 Dynamic regulation of CD45 lateral mobility by the spectrin-ankyrin cytoskeleton of T cells.
19910543 2010 Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke.
19538529 2009 Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
19168783 2009 The structure of the ankyrin-binding site of beta-spectrin reveals how tandem spectrin-repeats generate unique ligand-binding properties.
19141864 2009 Structures of the spectrin-ankyrin interaction binding domains.
18202182 2008 Unique elastic properties of the spectrin tetramer as revealed by multiscale coarse-grained modeling.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17977835 2008 A structural model of the erythrocyte spectrin heterodimer initiation site determined using homology modeling and chemical cross-linking.
17520478 Structural insight into an ankyrin-sensitive lipid-binding site of erythroid beta-spectrin.
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
16476728 2006 Conformational stabilities of the structural repeats of erythroid spectrin and their functional implications.
16060676 2005 Identification and functional characterization of protein 4.1R and actin-binding sites in erythrocyte beta spectrin: regulation of the interactions by phosphatidylinositol-4,5-bisphosphate.
15492010 2004 Chaperone activity and prodan binding at the self-associating domain of erythroid spectrin.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15065869 2004 In vivo phosphorylation of human erythrocyte spectrin occurs in a sequential manner.
15062087 2004 Structural insights into the stability and flexibility of unusual erythroid spectrin repeats.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14593108 2004 Plasma membrane-cytoskeleton-endoplasmic reticulum complexes in neurons and astrocytes.
12820899 2003 Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site.
12743109 2003 Neural cell adhesion molecule (NCAM) association with PKCbeta2 via betaI spectrin is implicated in NCAM-mediated neurite outgrowth.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12655374 2003 Comprehensive analysis of all triple helical repeats in beta-spectrins reveals patterns of selective evolutionary conservation.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12354383 2002 The spectrin-ankyrin skeleton controls CD45 surface display and interleukin-2 production.
11703334 2001 beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism.
11427698 2001 Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues.
11418000 2001 Spectrin oligomerization is cooperatively coupled to membrane assembly: a linkage targeted by many hereditary hemolytic anemias?
10950304 2000 Adducin: structure, function and regulation.
10867799 2000 Aciculin and its relation to dystrophin: immunocytochemical studies in human normal and Duchenne dystrophy quadriceps muscles.
10751147 2000 The muscle regulatory and structural protein MLP is a cytoskeletal binding partner of betaI-spectrin.
10477754 1999 Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin.
10037687 1999 A human beta-spectrin gene promoter directs high level expression in erythroid but not muscle or neural cells.
9890967 1999 Interactions of the alpha-spectrin N-terminal region with beta-spectrin. Implications for the spectrin tetramerization reaction.
9450796 1998 A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao).
9414314 1998 Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG --> GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family.
9163587 1997 Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis.
9005995 1997 Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8844207 1996 Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.
8675627 1995 Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.
8663089 1996 Identification of the spectrin subunit and domains required for formation of spectrin/adducin/actin complexes.
8493579 1993 Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2.
8341682 1993 Cloning of human erythroid dematin reveals another member of the villin family.
8226774 1993 Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer.
8159688 1994 Ankyrin binds to two distinct cytoplasmic domains of Na,K-ATPase alpha subunit.
8102379 1993 Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
8018926 1994 Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.
7962054 1994 Golgi spectrin: identification of an erythroid beta-spectrin homolog associated with the Golgi complex.
7883966 1995 Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
7673158 1995 Defining of the minimal domain of protein 4.1 involved in spectrin-actin binding.
7104494 1982 Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis.
6743699 1984 Interaction between microtubule-associated protein tau and spectrin.
6472478 1984 Erythrocyte spectrin is comprised of many homologous triple helical segments.
6215583 1982 A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis.
3580577 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.
3478706 1987 Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin.
3390609 1988 Molecular cloning of the cDNA for human erythrocyte beta-spectrin.
2346784 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.
2243099 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.
2209094 1990 Assignment of the gene for beta-spectrin (SPTB) to chromosome 14q23----q24.2 by in situ hybridization.
2195026 1990 Full-length sequence of the cDNA for human erythroid beta-spectrin.
2070088 1991 An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).
2056132 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.
1976574 1990 Identification of an unusual deletion within homologous repeats of human reticulocyte beta-spectrin and probable peptide polymorphism.
1975598 1990 Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.
1840591 1991 A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain.
1634521 1992 Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site.
1498324 1992 Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene.
1391962 1992 A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216).
379653 1979 The membrane attachment protein for spectrin is associated with band 3 in human erythrocyte membranes.