SPTBN4

From Wikipedia, the free encyclopedia

Spectrin, beta, non-erythrocytic 4

Identifiers

SPTBN4; KIAA1642; QV; SPNB4; SPTBN3

External IDs

OMIM: 606214 MGI: 1890574 HomoloGene: 11879

Gene ontology
Molecular Function:	• actin binding • structural constituent of cytoskeleton • protein binding • ankyrin binding
Cellular Component:	• cytoplasm • cytoskeleton • spectrin • membrane • nuclear matrix • PML body • axon • axon hillock
Biological Process:	• cytoskeletal anchoring • sensory perception of sound • vesicle-mediated transport • transmission of nerve impulse • barbed-end actin filament capping

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_020971 (mRNA)
NP_066022 (protein)

NM_032610 (mRNA)
NP_115999 (protein)

Location

Chr 19: 45.66 - 45.77 Mb

Chr 7: 27.07 - 27.16 Mb

Pubmed search

[1]

[2]

Spectrin, beta, non-erythrocytic 4, also known as SPTBN4, is a human gene.^[1]

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene.^[1]

[edit] References

^ ^a ^b Entrez Gene: SPTBN4 spectrin, beta, non-erythrocytic 4.

[edit] Further reading

Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 7 (4): 273–81. PMID 10997877.
Berghs S, Aggujaro D, Dirkx R, et al. (2001). "betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system.". J. Cell Biol. 151 (5): 985–1002. PMID 11086001.
Tse WT, Tang J, Jin O, et al. (2001). "A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix.". J. Biol. Chem. 276 (26): 23974–85. doi:10.1074/jbc.M009307200. PMID 11294830.
Komada M, Soriano P (2002). "[Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier.". J. Cell Biol. 156 (2): 337–48. doi:10.1083/jcb.200110003. PMID 11807096.
Shoeman RL, Hartig R, Hauses C, Traub P (2003). "Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease.". Cell Biol. Int. 26 (6): 529–39. PMID 12119179.
Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMID 12421765.
Ozeki Y, Tomoda T, Kleiderlein J, et al. (2003). "Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth.". Proc. Natl. Acad. Sci. U.S.A. 100 (1): 289–94. doi:10.1073/pnas.0136913100. PMID 12506198.
Morris JA, Kandpal G, Ma L, Austin CP (2004). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation.". Hum. Mol. Genet. 12 (13): 1591–608. PMID 12812986.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.