Protein-coding gene in the species Homo sapiens
| SPTBN4 |
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| Identifiers |
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| Aliases | SPTBN4, QV, SPNB4, SPTBN3, spectrin beta, non-erythrocytic 4, CMND, NEDHND |
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| External IDs | OMIM: 606214; MGI: 1890574; HomoloGene: 11879; GeneCards: SPTBN4; OMA:SPTBN4 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 19 (human)[1] |
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| | Band | 19q13.2 | Start | 40,466,241 bp[1] |
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| End | 40,576,464 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7 A3|7 15.88 cM | Start | 27,055,808 bp[2] |
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| End | 27,147,111 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - right hemisphere of cerebellum
- right frontal lobe
- Brodmann area 9
- anterior cingulate cortex
- prefrontal cortex
- nucleus accumbens
- caudate nucleus
- putamen
- amygdala
- pituitary gland
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| | Top expressed in | - superior frontal gyrus
- primary visual cortex
- cerebellar cortex
- nucleus of stria terminalis
- central gray substance of midbrain
- dentate gyrus of hippocampal formation granule cell
- subiculum
- piriform cortex
- nucleus accumbens
- cerebellar vermis
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| 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
- hearing
- 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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NM_001199234
NM_001199235
NM_001199236
NM_032610 |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 19: 40.47 – 40.58 Mb | Chr 7: 27.06 – 27.15 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000160460 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "Entrez Gene: SPTBN4 spectrin, beta, non-erythrocytic 4".
- ^ a b 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.
Further reading
- 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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See also: cytoskeletal defects |
 | This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. |
