Enaptin also known as nesprin-1 or synaptic nuclear envelope protein 1 (syne-1) is an actin-binding protein that in humans that is encoded by the SYNE1 gene.[5]
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane.[5]
Enaptin contains a coiled alpha-helical region and a large beta-sheet region in the upper part and at least four alpha-helices spliced together, indicating the similarity with collagen. The protein is made up of three main parts, as can be seen in the diagram: cytoplasmic (1-8746), anchor for type IV membrane protein (8747-8767), and the sequence for perinuclear space (8768-8797). The region in the perinuclear space contains a KASH domain.
The molecular weight of the mature protein is approximately 1,011 kDa, and it has a theoretical pI of 5.38.[6] The protein's chemical formula is C44189H71252N12428O14007S321. It has a theoretical Instability Index (II) of 51.63, indicating that it would be unstable in a test tube. The protein's in vivohalf-life, the time it takes for half of the amount of protein in a cell to disappear after its synthesis in the cell, is predicted to be approximately 30 hours (in mammalianreticulocytes).[7]
Clinical significanceedit
Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce.[5]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000131018 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000096054 - 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.
Zhang Q, Skepper JN, Yang F, Davies JD, Hegyi L, Roberts RG, Weissberg PL, Ellis JA, Shanahan CM (December 2001). "Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues" (PDF). J. Cell Sci. 114 (Pt 24): 4485–98. doi:10.1242/jcs.114.24.4485. PMID 11792814.
Grady RM, Starr DA, Ackerman GL, Sanes JR, Han M (March 2005). "Syne proteins anchor muscle nuclei at the neuromuscular junction". Proc. Natl. Acad. Sci. U.S.A. 102 (12): 4359–64. doi:10.1073/pnas.0500711102. PMC555524. PMID 15749817.
External linksedit
GeneReview/NCBI/NIH/UW entry on SYNE1-Related Autosomal Recessive Cerebellar Ataxia
Overview of all the structural information available in the PDB for UniProt: Q8NF91 (Nesprin-1) at the PDBe-KB.
enaptin, also, known, nesprin, synaptic, nuclear, envelope, protein, syne, actin, binding, protein, that, humans, that, encoded, syne1, gene, syne1available, structurespdbortholog, search, pdbe, rcsblist, codes4dxridentifiersaliasessyne1, arca1, c6orf98, cpg2,. Enaptin also known as nesprin 1 or synaptic nuclear envelope protein 1 syne 1 is an actin binding protein that in humans that is encoded by the SYNE1 gene 5 SYNE1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes4DXRIdentifiersAliasesSYNE1 8B ARCA1 C6orf98 CPG2 EDMD4 MYNE1 Nesp1 SCAR8 dJ45H2 2 spectrin repeat containing nuclear envelope protein 1 KASH1 AMCM AMC3External IDsOMIM 608441 MGI 1927152 HomoloGene 52329 GeneCards SYNE1Gene location Human Chr Chromosome 6 human 1 Band6q25 2Start152 121 687 bp 1 End152 637 801 bp 1 Gene location Mouse Chr Chromosome 10 mouse 2 Band10 10 A1Start5 020 917 bp 2 End5 551 482 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed incerebellar hemisphereAchilles tendonnucleus accumbenssural nerveright lungmiddle temporal gyruscaudate nucleusascending aortaright uterine tubepituitary glandTop expressed incerebellar cortexcerebellar vermishabenulaRegion I of hippocampus propersuperior frontal gyrusdentate gyrusolfactory tuberclepiriform cortexsubiculumprimary motor cortexMore reference expression dataBioGPSn aGene ontologyMolecular functionactin filament binding protein binding identical protein binding actin binding lamin binding protein homodimerization activity enzyme binding RNA bindingCellular componentcytoplasm integral component of membrane postsynaptic membrane Golgi apparatus nuclear membrane nuclear envelope membrane sarcomere nucleoplasm meiotic nuclear membrane microtubule tethering complex nuclear outer membrane cytoskeleton nucleus P body nucleolusBiological processnuclear matrix anchoring at nuclear membrane Golgi organization nucleus organization muscle cell differentiation spermatogenesis cell differentiationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2334564009EnsemblENSG00000131018ENSMUSG00000096054UniProtQ8NF91Q6ZWR6RefSeq mRNA NM 001099267NM 001134379NM 015293NM 033071NM 133650NM 182961NM 001347701NM 001347702NM 001079686NM 022027NM 153399NM 001347711NM 001347732RefSeq protein NP 001334630NP 001334631NP 149062NP 892006NP 001073154NP 001334640NP 001334661NP 071310NP 700448Location UCSC Chr 6 152 12 152 64 MbChr 10 5 02 5 55 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Structure 3 Clinical significance 4 References 5 Further reading 6 External linksFunction editThis gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle and peripheral blood lymphocytes that localizes to the nuclear membrane 5 Enaptin is a nuclear envelope protein found in human myocytes and synapses which is made up of 8 797 amino acids Enaptin is involved in the maintenance of nuclear organization and structural integrity tethering the cell nucleus to the cytoskeleton by interacting with the nuclear envelope and with F actin in the cytoplasm Structure editEnaptin contains a coiled alpha helical region and a large beta sheet region in the upper part and at least four alpha helices spliced together indicating the similarity with collagen The protein is made up of three main parts as can be seen in the diagram cytoplasmic 1 8746 anchor for type IV membrane protein 8747 8767 and the sequence for perinuclear space 8768 8797 The region in the perinuclear space contains a KASH domain The molecular weight of the mature protein is approximately 1 011 kDa and it has a theoretical pI of 5 38 6 The protein s chemical formula is C44189H71252N12428O14007S321 It has a theoretical Instability Index II of 51 63 indicating that it would be unstable in a test tube The protein s in vivo half life the time it takes for half of the amount of protein in a cell to disappear after its synthesis in the cell is predicted to be approximately 30 hours in mammalian reticulocytes 7 Clinical significance editMutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8 also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000131018 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000096054 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 c Entrez Gene Spectrin repeat containing nuclear envelope 1 Compute pI Mw for SYNE1 HUMAN Q8NF91 ExPASy Swiss Institute of Bioinformatics ProtParam for SYNE1 HUMAN Q8NF91 ExPASy Swiss Institute of Bioinformatics Further reading editZhang Q Skepper JN Yang F Davies JD Hegyi L Roberts RG Weissberg PL Ellis JA Shanahan CM December 2001 Nesprins a novel family of spectrin repeat containing proteins that localize to the nuclear membrane in multiple tissues PDF J Cell Sci 114 Pt 24 4485 98 doi 10 1242 jcs 114 24 4485 PMID 11792814 Grady RM Starr DA Ackerman GL Sanes JR Han M March 2005 Syne proteins anchor muscle nuclei at the neuromuscular junction Proc Natl Acad Sci U S A 102 12 4359 64 doi 10 1073 pnas 0500711102 PMC 555524 PMID 15749817 External links editGeneReview NCBI NIH UW entry on SYNE1 Related Autosomal Recessive Cerebellar Ataxia Overview of all the structural information available in the PDB for UniProt Q8NF91 Nesprin 1 at the PDBe KB This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title Enaptin amp oldid 1189924592, wikipedia, wiki, book, books, library,
