SPTBN4

SPTBN4
Identifiers
Aliases	SPTBN4 , QV, SPNB4, SPTBN3, spectrin beta, non-erythrocytic 4, CMND, NEDHND
External IDs	OMIM: 606214 MGI: 1890574 HomoloGene: 11879 GeneCards: SPTBN4
Gene location (Human)
Chr.	Chromosome 19 (human)
End	40,576,464 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	27,147,111 bp
RNA expression pattern
	Top expressed in
	Brodmann area 9; ; prefrontal cortex; ; nucleus accumbens; ; caudate nucleus; ; putamen; ; amygdala; ; pituitary gland; ; hypothalamus; ; anterior pituitary; ; cerebellar vermis;
	Top expressed in
	superior frontal gyrus; ; cerebellar cortex; ; subiculum; ; piriform cortex; ; nucleus accumbens; ; cerebellar vermis; ; Region I of hippocampus proper; ; superior colliculus; ; olfactory tubercle; ; pontine nuclei;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphatase binding ; spectrin binding ; structural constituent of cytoskeleton ; protein binding ; ankyrin binding ; actin binding ; phospholipid binding ;
Cellular component	cytoplasm ; cytosol ; PML body ; spectrin ; membrane ; cell body fiber ; nuclear matrix ; adherens junction ; plasma membrane ; node of Ranvier ; axon ; neuronal cell body ; cell cortex ; axon hillock ; axon initial segment ; paranode region of axon ; extracellular exosome ; cytoskeleton ; intercalated disc ;
Biological process	clustering of voltage-gated sodium channels ; axonogenesis ; regulation of sodium ion transport ; transmission of nerve impulse ; sensory perception of sound ; negative regulation of heart rate ; MAPK cascade ; axon guidance ; endoplasmic reticulum to Golgi vesicle-mediated transport ; reproductive process ; adult behavior ; cardiac conduction ; regulation of peptidyl-serine phosphorylation ; actin filament capping ; positive regulation of multicellular organism growth ; fertilization ; central nervous system projection neuron axonogenesis ; vesicle-mediated transport ; adult walking behavior ; protein localization to plasma membrane ; regulation of molecular function ; cytoskeleton organization ;
	Sources:Amigo / QuickGO
Orthologs
	57731
	80297
	ENSG00000160460
	ENSMUSG00000011751
	Q9H254
	n/a
	NM_020971 ; NM_025213
	NM_001199234 ; NM_001199235 ; NM_001199236 ; NM_032610
	NP_066022 ; NP_079489
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 13, 2022

Spectrin, beta, non-erythrocytic 4, also known as SPTBN4, is a protein that in humans is encoded by the SPTBN4 gene.^[5]^[6]

Spectrin is an actin crosslinking and molecular scaffold protein that links the cell 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.^[5]

Interactions

SPTBN4 has been shown to interact with PTPRN ^[6] and DISC1.^[7]

Related Research Articles

Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.

Nucleoporin p62 (p62) is a protein complex associated with the nuclear envelope. The p62 protein remains associated with the nuclear pore complex-lamina fraction. p62 is synthesized as a soluble cytoplasmic precursor of 61 kDa followed by modification that involve addition of N-acetylglucosamine residues, followed by association with other complex proteins.

AP-2 complex subunit alpha-1 is a protein that in humans is encoded by the AP2A1 gene.

Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene.

Alpha II-spectrin, also known as Spectrin alpha chain, brain is a protein that in humans is encoded by the SPTAN1 gene. Alpha II-spectrin is expressed in a variety of tissues, and is highly expressed in cardiac muscle at Z-disc structures, costameres and at the sarcolemma membrane. Mutations in alpha II-spectrin have been associated with early infantile epileptic encephalopathy-5, and alpha II-spectrin may be a valuable biomarker for Guillain–Barré syndrome and infantile congenital heart disease.

Alpha-adducin is a protein that in humans is encoded by the ADD1 gene.

Alpha-actinin-2 is a protein which in humans is encoded by the ACTN2 gene. This gene encodes an alpha-actinin isoform that is expressed in both skeletal and cardiac muscles and functions to anchor myofibrillar actin thin filaments and titin to Z-discs.

Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene.

Ran-binding protein 9 is a protein that in humans is encoded by the RANBP9 gene.

Beta-adducin is a protein that in humans is encoded by the ADD2 gene.

Alpha-centractin (yeast) or ARP1 is a protein that in humans is encoded by the ACTR1A gene.

Nuclear distribution protein nudE-like 1 is a protein that in humans is encoded by the NDEL1 gene.

Receptor-type tyrosine-protein phosphatase-like N, also called "IA-2", is an enzyme that in humans is encoded by the PTPRN gene.

Protein unc-13 homolog B is a protein that in humans is encoded by the UNC13B gene.

Fasciculation and elongation protein zeta-1 is a protein that in humans is encoded by the FEZ1 gene.

Receptor-type tyrosine-protein phosphatase N2 (R-PTP-N2) also known as islet cell autoantigen-related protein (ICAAR) and phogrin is an enzyme that in humans is encoded by the PTPRN2 gene. PTPRN and PTPRN2 are both found to be major autoantigens associated with insulin-dependent diabetes mellitus.

Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.

Ankyrin 1, also known as ANK-1, and erythrocyte ankyrin, is a protein that in humans is encoded by the ANK1 gene.

Ankyrin-3 (ANK-3), also known as ankyrin-G, is a protein from ankyrin family that in humans is encoded by the ANK3 gene.

Spectrin, beta, non-erythrocytic 5 also known as SPTBN5 is a protein that in humans is encoded by the SPTBN5 gene. SPTBN5 belongs to the spectrin family of cytoskeletal proteins.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000160460 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000011751 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: SPTBN4 spectrin, beta, non-erythrocytic 4".
1 2 Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (November 2000). "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. doi:10.1083/jcb.151.5.985. PMC 2174349 . PMID 11086001.
↑ Morris JA, Kandpal G, Ma L, Austin CP (Jul 2003). "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. doi: 10.1093/hmg/ddg162 . PMID 12812986.

Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (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. doi: 10.1093/dnares/7.4.271 . PMID 10997877.
Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (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. doi:10.1083/jcb.151.5.985. PMC 2174349 . PMID 11086001.
Tse WT, Tang J, Jin O, Korsgren C, John KM, Kung AL, Gwynn B, Peters LL, Lux SE (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. PMC 2199236 . 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. doi:10.1006/cbir.2002.0895. PMID 12119179. S2CID 39778155.
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. PMC 187542 . PMID 12421765.
Ozeki Y, Tomoda T, Kleiderlein J, Kamiya A, Bord L, Fujii K, Okawa M, Yamada N, Hatten ME, Snyder SH, Ross CA, Sawa A (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. Bibcode:2003PNAS..100..289O. doi: 10.1073/pnas.0136913100 . PMC 140954 . 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. doi: 10.1093/hmg/ddg162 . PMID 12812986.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (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. S2CID 7827573.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000160460 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000011751 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: SPTBN4 spectrin, beta, non-erythrocytic 4".

[pmid11086001-6] 1 2 Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (November 2000). "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. doi:10.1083/jcb.151.5.985. PMC 2174349 . PMID 11086001.

[pmid12812986-7] Morris JA, Kandpal G, Ma L, Austin CP (Jul 2003). "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. doi: 10.1093/hmg/ddg162 . PMID 12812986.

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SPTBN4

Contents

Interactions

Related Research Articles

References

Further reading