Description: Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA. RefSeq Summary (NM_001024858): This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr14:65,213,001-65,289,863 Size: 76,863 Total Exon Count: 35 Strand: - Coding Region Position: hg19 chr14:65,216,024-65,289,812 Size: 73,789 Coding Exon Count: 35
Amyotrophic Lateral Sclerosis Simon Cronin et al. Human molecular genetics 2008, A genome-wide association study of sporadic ALS in a homogenous Irish population., Human molecular genetics.
[PubMed 18057069]
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 P11277-2
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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.
AB209415 - Homo sapiens mRNA for spectrin, beta, erythrocytic (includes spherocytosis, clinical type I) variant protein. AB384944 - Synthetic construct DNA, clone: pF1KB4399, Homo sapiens SPTB gene for spectrin beta chain, complete cds, without stop codon, in Flexi system. J05500 - Human beta-spectrin (SPTB) mRNA, complete cds. BC136284 - Homo sapiens spectrin, beta, erythrocytic, mRNA (cDNA clone MGC:167894 IMAGE:9020271), complete cds. BC136285 - Homo sapiens spectrin, beta, erythrocytic, mRNA (cDNA clone MGC:167895 IMAGE:9020272), complete cds. BC010434 - Homo sapiens spectrin, beta, erythrocytic, mRNA (cDNA clone IMAGE:3538218). AK094815 - Homo sapiens cDNA FLJ37496 fis, clone BRAWH2015728. KJ901762 - Synthetic construct Homo sapiens clone ccsbBroadEn_11156 SPTB gene, encodes complete protein. BX248270 - human full-length cDNA clone CS0DC018YF11 of Neuroblastoma of Homo sapiens (human). AF465439 - Homo sapiens beta I spectrin form betaI sigma3 mRNA, partial cds; alternatively spliced. M37884 - Human muscle beta spectrin mRNA, 3' end. AK126627 - Homo sapiens cDNA FLJ44666 fis, clone BRACE3004767, moderately similar to Spectrin beta chain, brain. M37885 - Human brain beta spectrin mRNA, partial cds. X59511 - H.sapiens mRNA for beta-spectrin (3' partial). S42560 - spectrin beta Tandil=beta-chain variant {3'region} [human, mRNA Partial Mutant, 180 nt]. M57948 - Human beta-spectrin mRNA. M18054 - Human erythrocyte beta-spectrin mRNA, partial cds. X59510 - H.sapiens mRNA for beta-spectrin (5' partial). DQ588282 - Homo sapiens piRNA piR-55394, complete sequence. JD107429 - Sequence 88453 from Patent EP1572962. JD059391 - Sequence 40415 from Patent EP1572962. JD087576 - Sequence 68600 from Patent EP1572962. JD521479 - Sequence 502503 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P11277 (Reactome details) participates in the following event(s):
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-375165 NCAM signaling for neurite out-growth R-HSA-445095 Interaction between L1 and Ankyrins R-HSA-6807878 COPI-mediated anterograde transport R-HSA-422475 Axon guidance R-HSA-373760 L1CAM interactions R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-1266738 Developmental Biology 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
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Common Gene Haplotype Alleles 
