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Entry version 188 (22 Apr 2020)
Sequence version 4 (28 Nov 2012)
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Protein

Nesprin-1

Gene

SYNE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding
Biological processDifferentiation, Spermatogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1221632 Meiotic synapsis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nesprin-1
Alternative name(s):
Enaptin
KASH domain-containing protein 1
Short name:
KASH1
Myocyte nuclear envelope protein 1
Short name:
Myne-1
Nuclear envelope spectrin repeat protein 1
Synaptic nuclear envelope protein 1
Short name:
Syne-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SYNE1
Synonyms:C6orf98, KIAA0796, KIAA1262, KIAA1756, MYNE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17089 SYNE1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608441 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NF91

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 8746CytoplasmicPROSITE-ProRule annotationAdd BLAST8746
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei8747 – 8767Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd BLAST21
Topological domaini8768 – 8797Perinuclear spacePROSITE-ProRule annotationAdd BLAST30

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form.
Related information in OMIM
Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0629748095R → H in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103246EnsemblClinVar.1
Natural variantiVAR_0629758387V → L in EDMD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs119103247EnsemblClinVar.1
Natural variantiVAR_0629768461E → K in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103248EnsemblClinVar.1
Arthrogryposis multiplex congenita, myogenic type (AMCM)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMCM is an autosomal recessive form characterized by decreased fetal movements, muscular hypotonia, delayed motor development, loss of ambulation, variable skeletal defects, and persistent contractures of interphalangeal joints.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0829868193 – 8797Missing in AMCM. 1 PublicationAdd BLAST605
Natural variantiVAR_0829878746 – 8797Missing in AMCM. 1 PublicationAdd BLAST52

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi8758 – 8763Missing : Abolishes the nuclear envelope targeting, induces a cytoplasmic localization. 1 Publication6

Keywords - Diseasei

Disease mutation, Emery-Dreifuss muscular dystrophy, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
23345

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SYNE1

MalaCards human disease database

More...
MalaCardsi
SYNE1
MIMi610743 phenotype
612998 phenotype
618484 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000131018

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
88644 Autosomal recessive ataxia, Beauce type
319332 Autosomal recessive myogenic arthrogryposis multiplex congenita

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134975331

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q8NF91 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SYNE1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
425906075

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001635911 – 8797Nesprin-1Add BLAST8797

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei732PhosphoserineBy similarity1
Modified residuei2270PhosphothreonineBy similarity1
Modified residuei5657PhosphoserineBy similarity1
Modified residuei8223PhosphoserineCombined sources1
Modified residuei8274PhosphothreonineCombined sources1
Modified residuei8277PhosphoserineCombined sources1
Modified residuei8280PhosphoserineCombined sources1
Modified residuei8305PhosphoserineBy similarity1
Modified residuei8360PhosphothreonineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi8774Interchain (C-563 in SUN2); alternateBy similarity
Disulfide bondi8774Interchain (with C-657 in SUN1); alternateBy similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces.By similarity

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NF91

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NF91

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8NF91

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8NF91

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8NF91

PeptideAtlas

More...
PeptideAtlasi
Q8NF91

PRoteomics IDEntifications database

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PRIDEi
Q8NF91

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
17580
34724
73268 [Q8NF91-1]
73269 [Q8NF91-2]
73270 [Q8NF91-3]
73271 [Q8NF91-4]
73272 [Q8NF91-5]
73273 [Q8NF91-6]
73274 [Q8NF91-7]
73275 [Q8NF91-8]
73276 [Q8NF91-9]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q8NF91

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8NF91

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8NF91

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predominantly expressed in heart and skeletal muscle (at protein level).5 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000131018 Expressed in cerebellum and 228 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NF91 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NF91 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000131018 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Core component of LINC complexes which are composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, differentially expression of LINC complex constituents can give rise to specific assemblies. At least SUN1/2-containing core LINC complexes are proposed to be hexameric composed of three protomers of each KASH and SUN domain-containing protein. The SUN2:SYNE1/KASH1 LINC complex is a heterohexamer; the homotrimeric cloverleave-like conformation of the SUN domain is a prerequisite for LINC complex formation in which three separate SYNE1/KASH1 peptides bind at the interface of adjacent SUN domains. Self-associates.

Interacts with SYNE3.

Interacts with SPAG4/SUN4. May interact with MUSK.

Interacts with F-actin via its N-terminal domain.

Interacts with EMD and LMNA in vitro.

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116928, 44 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8NF91

Protein interaction database and analysis system

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IntActi
Q8NF91, 36 interactors

Molecular INTeraction database

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MINTi
Q8NF91

STRING: functional protein association networks

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STRINGi
9606.ENSP00000356224

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q8NF91 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

18797
Legend: HelixTurnBeta strandPDB Structure known for this area
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3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8NF91

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini27 – 134Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST108
Domaini178 – 283Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST106
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati314 – 397Spectrin 1Add BLAST84
Repeati398 – 502Spectrin 2Add BLAST105
Repeati503 – 609Spectrin 3Add BLAST107
Repeati610 – 703Spectrin 4Add BLAST94
Repeati704 – 815Spectrin 5Add BLAST112
Repeati816 – 923Spectrin 6Add BLAST108
Repeati924 – 1024Spectrin 7Add BLAST101
Repeati1025 – 1122Spectrin 8Add BLAST98
Repeati1123 – 1246Spectrin 9Add BLAST124
Repeati1247 – 1335Spectrin 10Add BLAST89
Repeati1336 – 1444Spectrin 11Add BLAST109
Repeati1445 – 1550Spectrin 12Add BLAST106
Repeati1551 – 1653Spectrin 13Add BLAST103
Repeati1654 – 1763Spectrin 14Add BLAST110
Repeati1764 – 1879Spectrin 15Add BLAST116
Repeati1880 – 1976Spectrin 16Add BLAST97
Repeati1977 – 2081Spectrin 17Add BLAST105
Repeati2082 – 2195Spectrin 18Add BLAST114
Repeati2196 – 2303Spectrin 19Add BLAST108
Repeati2304 – 2401Spectrin 20Add BLAST98
Repeati2402 – 2513Spectrin 21Add BLAST112
Repeati2514 – 2619Spectrin 22Add BLAST106
Repeati2620 – 2731Spectrin 23Add BLAST112
Repeati2732 – 2838Spectrin 24Add BLAST107
Repeati2839 – 2962Spectrin 25Add BLAST124
Repeati2963 – 3062Spectrin 26Add BLAST100
Repeati3063 – 3171Spectrin 27Add BLAST109
Repeati3172 – 3275Spectrin 28Add BLAST104
Repeati3276 – 3387Spectrin 29Add BLAST112
Repeati3388 – 3490Spectrin 30Add BLAST103
Repeati3491 – 3593Spectrin 31Add BLAST103
Repeati3594 – 3720Spectrin 32Add BLAST127
Repeati3721 – 3814Spectrin 33Add BLAST94
Repeati3815 – 3920Spectrin 34Add BLAST106
Repeati3921 – 4028Spectrin 35Add BLAST108
Repeati4029 – 4139Spectrin 36Add BLAST111
Repeati4140 – 4235Spectrin 37Add BLAST96
Repeati4236 – 4339Spectrin 38Add BLAST104
Repeati4340 – 4451Spectrin 39Add BLAST112
Repeati4452 – 4560Spectrin 40Add BLAST109
Repeati4561 – 4669Spectrin 41Add BLAST109
Repeati4670 – 4776Spectrin 42Add BLAST107
Repeati4777 – 4882Spectrin 43Add BLAST106
Repeati4883 – 4991Spectrin 44Add BLAST109
Repeati4992 – 5099Spectrin 45Add BLAST108
Repeati5100 – 5209Spectrin 46Add BLAST110
Repeati5210 – 5318Spectrin 47Add BLAST109
Repeati5319 – 5424Spectrin 48Add BLAST106
Repeati5425 – 5522Spectrin 49Add BLAST98
Repeati5523 – 5630Spectrin 50Add BLAST108
Repeati5631 – 5736Spectrin 51Add BLAST106
Repeati5737 – 5842Spectrin 52Add BLAST106
Repeati5962 – 6071Spectrin 53Add BLAST110
Repeati6072 – 6178Spectrin 54Add BLAST107
Repeati6374 – 6485Spectrin 55Add BLAST112
Repeati6486 – 6581Spectrin 56Add BLAST96
Repeati6582 – 6691Spectrin 57Add BLAST110
Repeati6692 – 6795Spectrin 58Add BLAST104
Repeati6796 – 6902Spectrin 59Add BLAST107
Repeati6903 – 7020Spectrin 60Add BLAST118
Repeati7021 – 7128Spectrin 61Add BLAST108
Repeati7129 – 7237Spectrin 62Add BLAST109
Repeati7238 – 7350Spectrin 63Add BLAST113
Repeati7351 – 7454Spectrin 64Add BLAST104
Repeati7455 – 7558Spectrin 65Add BLAST104
Repeati7559 – 7671Spectrin 66Add BLAST113
Repeati7672 – 7783Spectrin 67Add BLAST112
Repeati7784 – 7883Spectrin 68Add BLAST100
Repeati7884 – 7997Spectrin 69Add BLAST114
Repeati7998 – 8106Spectrin 70Add BLAST109
Repeati8107 – 8216Spectrin 71Add BLAST110
Repeati8329 – 8438Spectrin 72Add BLAST110
Repeati8439 – 8548Spectrin 73Add BLAST110
Repeati8549 – 8666Spectrin 74Add BLAST118
Domaini8738 – 8797KASHPROSITE-ProRule annotationAdd BLAST60

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 289Actin-bindingAdd BLAST289

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili314 – 8666Sequence analysisAdd BLAST8353

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi8663 – 8729Ser-richAdd BLAST67

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the nesprin family.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0516 Eukaryota
COG5069 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154481

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000025_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NF91

KEGG Orthology (KO)

More...
KOi
K19326

Identification of Orthologs from Complete Genome Data

More...
OMAi
EMQLHQM

Database of Orthologous Groups

More...
OrthoDBi
47at2759

TreeFam database of animal gene trees

More...
TreeFami
TF329280

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00014 CH, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.418.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR012315 KASH
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat
IPR030265 SYNE1

The PANTHER Classification System

More...
PANTHERi
PTHR14514:SF3 PTHR14514:SF3, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00307 CH, 2 hits
PF10541 KASH, 1 hit
PF00435 Spectrin, 10 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00033 CH, 2 hits
SM01249 KASH, 1 hit
SM00150 SPEC, 45 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47576 SSF47576, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS51049 KASH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (12+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 12 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 12 described isoforms and 26 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NF91-1) [UniParc]FASTAAdd to basket
Also known as: Nesprin-1 Giant, Enaptin

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATSRGASRC PRDIANVMQR LQDEQEIVQK RTFTKWINSH LAKRKPPMVV
60 70 80 90 100
DDLFEDMKDG VKLLALLEVL SGQKLPCEQG RRMKRIHAVA NIGTALKFLE
110 120 130 140 150
GRKIKLVNIN STDIADGRPS IVLGLMWTII LYFQIEELTS NLPQLQSLSS
160 170 180 190 200
SASSVDSIVS SETPSPPSKR KVTTKIQGNA KKALLKWVQY TAGKQTGIEV
210 220 230 240 250
KDFGKSWRSG VAFHSVIHAI RPELVDLETV KGRSNRENLE DAFTIAETEL
260 270 280 290 300
GIPRLLDPED VDVDKPDEKS IMTYVAQFLK HYPDIHNAST DGQEDDEILP
310 320 330 340 350
GFPSFANSVQ NFKREDRVIF KEMKVWIEQF ERDLTRAQMV ESNLQDKYQS
360 370 380 390 400
FKHFRVQYEM KRKQIEHLIQ PLHRDGKLSL DQALVKQSWD RVTSRLFDWH
410 420 430 440 450
IQLDKSLPAP LGTIGAWLYR AEVALREEIT VQQVHEETAN TIQRKLEQHK
460 470 480 490 500
DLLQNTDAHK RAFHEIYRTR SVNGIPVPPD QLEDMAERFH FVSSTSELHL
510 520 530 540 550
MKMEFLELKY RLLSLLVLAE SKLKSWIIKY GRRESVEQLL QNYVSFIENS
560 570 580 590 600
KFFEQYEVTY QILKQTAEMY VKADGSVEEA ENVMKFMNET TAQWRNLSVE
610 620 630 640 650
VRSVRSMLEE VISNWDRYGN TVASLQAWLE DAEKMLNQSE NAKKDFFRNL
660 670 680 690 700
PHWIQQHTAM NDAGNFLIET CDEMVSRDLK QQLLLLNGRW RELFMEVKQY
710 720 730 740 750
AQADEMDRMK KEYTDCVVTL SAFATEAHKK LSEPLEVSFM NVKLLIQDLE
760 770 780 790 800
DIEQRVPVMD AQYKIITKTA HLITKESPQE EGKEMFATMS KLKEQLTKVK
810 820 830 840 850
ECYSPLLYES QQLLIPLEEL EKQMTSFYDS LGKINEIITV LEREAQSSAL
860 870 880 890 900
FKQKHQELLA CQENCKKTLT LIEKGSQSVQ KFVTLSNVLK HFDQTRLQRQ
910 920 930 940 950
IADIHVAFQS MVKKTGDWKK HVETNSRLMK KFEESRAELE KVLRIAQEGL
960 970 980 990 1000
EEKGDPEELL RRHTEFFSQL DQRVLNAFLK ACDELTDILP EQEQQGLQEA
1010 1020 1030 1040 1050
VRKLHKQWKD LQGEAPYHLL HLKIDVEKNR FLASVEECRT ELDRETKLMP
1060 1070 1080 1090 1100
QEGSEKIIKE HRVFFSDKGP HHLCEKRLQL IEELCVKLPV RDPVRDTPGT
1110 1120 1130 1140 1150
CHVTLKELRA AIDSTYRKLM EDPDKWKDYT SRFSEFSSWI STNETQLKGI
1160 1170 1180 1190 1200
KGEAIDTANH GEVKRAVEEI RNGVTKRGET LSWLKSRLKV LTEVSSENEA
1210 1220 1230 1240 1250
QKQGDELAKL SSSFKALVTL LSEVEKMLSN FGDCVQYKEI VKNSLEELIS
1260 1270 1280 1290 1300
GSKEVQEQAE KILDTENLFE AQQLLLHHQQ KTKRISAKKR DVQQQIAQAQ
1310 1320 1330 1340 1350
QGEGGLPDRG HEELRKLEST LDGLERSRER QERRIQVTLR KWERFETNKE
1360 1370 1380 1390 1400
TVVRYLFQTG SSHERFLSFS SLESLSSELE QTKEFSKRTE SIAVQAENLV
1410 1420 1430 1440 1450
KEASEIPLGP QNKQLLQQQA KSIKEQVKKL EDTLEEDIKT MEMVKTKWDH
1460 1470 1480 1490 1500
FGSNFETLSV WITEKEKELN ALETSSSAMD MQISQIKVTI QEIESKLSSI
1510 1520 1530 1540 1550
VGLEEEAQSF AQFVTTGESA RIKAKLTQIR RYGEELREHA QCLEGTILGH
1560 1570 1580 1590 1600
LSQQQKFEEN LRKIQQSVSE FEDKLAVPIK ICSSATETYK VLQEHMDLCQ
1610 1620 1630 1640 1650
ALESLSSAIT AFSASARKVV NRDSCVQEAA ALQQQYEDIL RRAKERQTAL
1660 1670 1680 1690 1700
ENLLAHWQRL EKELSSFLTW LERGEAKASS PEMDISADRV KVEGELQLIQ
1710 1720 1730 1740 1750
ALQNEVVSQA SFYSKLLQLK ESLFSVASKD DVKMMKLHLE QLDERWRDLP
1760 1770 1780 1790 1800
QIINKRINFL QSVVAEHQQF DELLLSFSVW IKLFLSELQT TSEISIMDHQ
1810 1820 1830 1840 1850
VALTRHKDHA AEVESKKGEL QSLQGHLAKL GSLGRAEDLH LLQGKAEDCF
1860 1870 1880 1890 1900
QLFEEASQVV ERRQLALSHL AEFLQSHASL SGILRQLRQT VEATNSMNKN
1910 1920 1930 1940 1950
ESDLIEKDLN DALQNAKALE SAAVSLDGIL SKAQYHLKIG SSEQRTSCRA
1960 1970 1980 1990 2000
TADQLCGEVE RIQNLLGTKQ SEADALAVLK KAFQDQKEEL LKSIEDIEER
2010 2020 2030 2040 2050
TDKERLKEPT RQALQQRLRV FNQLEDELNS HEHELCWLKD KAKQIAQKDV
2060 2070 2080 2090 2100
AFAPEVDREI NRLEVTWDDT KRLIHENQGQ CCGLIDLMRE YQNLKSAVSK
2110 2120 2130 2140 2150
VLENASSVIV TRTTIKDQED LKWAFSKHET AKNKMNYKQK DLDNFTSKGK
2160 2170 2180 2190 2200
HLLSELKKIH SSDFSLVKTD MESTVDKWLD VSEKLEENMD RLRVSLSIWD
2210 2220 2230 2240 2250
DVLSTRDEIE GWSNNCVPQM AENISNLDNH LRAEELLKEF ESEVKNKALR
2260 2270 2280 2290 2300
LEELHSKVND LKELTKNLET PPDLQFIEAD LMQKLEHAKE ITEVAKGTLK
2310 2320 2330 2340 2350
DFTAQSTQVE KFINDITTWF TKVEESLMNC AQNETCEALK KVKDIQKELQ
2360 2370 2380 2390 2400
SQQSNISSTQ ENLNSLCRKY HSAELESLGR AMTGLIKKHE AVSQLCSKTQ
2410 2420 2430 2440 2450
ASLQESLEKH FSESMQEFQE WFLGAKAAAK ESSDRTGDSK VLEAKLHDLQ
2460 2470 2480 2490 2500
NILDSVSDGQ SKLDAVTQEG QTLYAHLSKQ IVSSIQEQIT KANEEFQAFL
2510 2520 2530 2540 2550
KQCLKDKQAL QDCASELGSF EDQHRKLNLW IHEMEERFNT ENLGESKQHI
2560 2570 2580 2590 2600
PEKKNEVHKV EMFLGELLAA RESLDKLSQR GQLLSEEGHG AGQEGRLCSQ
2610 2620 2630 2640 2650
LLTSHQNLLR MTKEKLRSCQ VALQEHEALE EALQSMWFWV KAIQDRLACA
2660 2670 2680 2690 2700
ESTLGSKDTL EKRLSQIQDI LLMKGEGEVK LNMAIGKGEQ ALRSSNKEGQ
2710 2720 2730 2740 2750
RVIQTQLETL KEVWADIMSS SVHAQSTLES VISQWNDYVE RKNQLEQWME
2760 2770 2780 2790 2800
SVDQKIEHPL QPQPGLKEKF VLLDHLQSIL SEAEDHTRAL HRLIAKSREL
2810 2820 2830 2840 2850
YEKTEDESFK DTAQEELKTQ FNDIMTVAKE KMRKVEEIVK DHLMYLDAVH
2860 2870 2880 2890 2900
EFTDWLHSAK EELHRWSDMS GDSSATQKKL SKIKELIDSR EIGASRLSRV
2910 2920 2930 2940 2950
ESLAPEVKQN TTASGCELMH TEMQALRADW KQWEDSVFQT QSCLENLVSQ
2960 2970 2980 2990 3000
MALSEQEFSG QVAQLEQALE QFSALLKTWA QQLTLLEGKN TDEEIVECWH
3010 3020 3030 3040 3050
KGQEILDALQ KAEPRTEDLK SQLNELCRFS RDLSTYSGKV SGLIKEYNCL
3060 3070 3080 3090 3100
CLQASKGCQN KEQILQQRFR KAFRDFQQWL VNAKITTAKC FDIPQNISEV
3110 3120 3130 3140 3150
STSLQKIQEF LSESENGQHK LNMMLSKGEL LSTLLTKEKA KGIQAKVTAA
3160 3170 3180 3190 3200
KEDWKNFHSN LHQKESALEN LKIQMKDFEV SAEPIQDWLS KTEKMVHESS
3210 3220 3230 3240 3250
NRLYDLPAKR REQQKLQSVL EEIHCYEPQL NRLKEKAQQL WEGQAASKSF
3260 3270 3280 3290 3300
RHRVSQLSSQ YLALSNLTKE KVSRLDRIVA EHNQFSLGIK ELQDWMTDAI
3310 3320 3330 3340 3350
HMLDSYCHPT SDKSVLDSRT LKLEALLSVK QEKEIQMKMI VTRGESVLQN
3360 3370 3380 3390 3400
TSPEGIPTIQ QQLQSVKDMW ASLLSAGIRC KSQLEGALSK WTSYQDGVRQ
3410 3420 3430 3440 3450
FSGWMDSMEA NLNESERQHA ELRDKTTMLG KAKLLNEEVL SYSSLLETIE
3460 3470 3480 3490 3500
VKGAGMTEHY VTQLELQDLQ ERYRAIQERA KEAVTKSEKL VRLHQEYQRD
3510 3520 3530 3540 3550
LKAFEVWLGQ EQEKLDQYSV LEGDAHTHET TLRDLQELQV HCAEGQALLN
3560 3570 3580 3590 3600
SVLHTREDVI PSGIPQAEDR ALESLRQDWQ AYQHRLSETR TQFNNVVNKL
3610 3620 3630 3640 3650
RLMEQKFQQV DEWLKTAEEK VSPRTRRQSN RATKEIQLHQ MKKWHEEVTA
3660 3670 3680 3690 3700
YRDEVEEVGA RAQEILDESH VNSRMGCQAT QLTSRYQALL LQVLEQIKFL
3710 3720 3730 3740 3750
EEEIQSLEES ESSLSSYSDW YGSTHKNFKN VATKIDKVDT VMMGKKLKTL
3760 3770 3780 3790 3800
EVLLKDMEKG HSLLKSAREK GERAVKYLEE GEAERLRKEI HDHMEQLKEL
3810 3820 3830 3840 3850
TSTVRKEHMT LEKGLHLAKE FSDKCKALTQ WIAEYQEILH VPEEPKMELY
3860 3870 3880 3890 3900
EKKAQLSKYK SLQQTVLSHE PSVKSVREKG EALLELVQDV TLKDKIDQLQ
3910 3920 3930 3940 3950
SDYQDLCSIG KEHVFSLEAK VKDHEDYNSE LQEVEKWLLQ MSGRLVAPDL
3960 3970 3980 3990 4000
LETSSLETIT QQLAHHKAMM EEIAGFEDRL NNLQMKGDTL IGQCADHLQA
4010 4020 4030 4040 4050
KLKQNVHAHL QGTKDSYSAI CSTAQRMYQS LEHELQKHVS RQDTLQQCQA
4060 4070 4080 4090 4100
WLSAVQPDLE PSPQPPLSRA EAIKQVKHFR ALQEQARTYL DLLCSMCDLS
4110 4120 4130 4140 4150
NASVKTTAKD IQQTEQTIEQ KLVQAQNLTQ GWEEIKHLKS ELWIYLQDAD
4160 4170 4180 4190 4200
QQLQNMKRRH SELELNIAQN MVSQVKDFVK KLQSKQASVN TIIEKVNKLT
4210 4220 4230 4240 4250
KKEESPEHKE INHLNDQWLD LCRQSNNLCL QREEDLQRTR DYHDCMNVVE
4260 4270 4280 4290 4300
VFLEKFTTEW DNLARSDAES TAVHLEALKK LALALQERKY AIEDLKDQKQ
4310 4320 4330 4340 4350
KMIEHLNLDD KELVKEQTSH LEQRWFQLED LIKRKIQVSV TNLEELNVVQ
4360 4370 4380 4390 4400
SRFQELMEWA EEQQPNIAEA LKQSPPPDMA QNLLMDHLAI CSELEAKQML
4410 4420 4430 4440 4450
LKSLIKDADR VMADLGLNER QVIQKALSDA QSHVNCLSDL VGQRRKYLNK
4460 4470 4480 4490 4500
ALSEKTQFLM AVFQATSQIQ QHERKIMFRE HICLLPDDVS KQVKTCKSAQ
4510 4520 4530 4540 4550
ASLKTYQNEV TGLWAQGREL MKEVTEQEKS EVLGKLQELQ SVYDSVLQKC
4560 4570 4580 4590 4600
SHRLQELEKN LVSRKHFKED FDKACHWLKQ ADIVTFPEIN LMNESSELHT
4610 4620 4630 4640 4650
QLAKYQNILE QSPEYENLLL TLQRTGQTIL PSLNEVDHSY LSEKLNALPR
4660 4670 4680 4690 4700
QFNVIVALAK DKFYKVQEAI LARKEYASLI ELTTQSLSEL EAQFLRMSKV
4710 4720 4730 4740 4750
PTDLAVEEAL SLQDGCRAIL DEVAGLGEAV DELNQKKEGF RSTGQPWQPD
4760 4770 4780 4790 4800
KMLHLVTLYH RLKRQTEQRV SLLEDTTSAY QEHEKMCQQL ERQLKSVKEE
4810 4820 4830 4840 4850
QSKVNEETLP AEEKLKMYHS LAGSLQDSGI VLKRVTIHLE DLAPHLDPLA
4860 4870 4880 4890 4900
YEKARHQIQS WQGELKLLTS AIGETVTECE SRMVQSIDFQ TEMSRSLDWL
4910 4920 4930 4940 4950
RRVKAELSGP VYLDLNLQDI QEEIRKIQIH QEEVQSSLRI MNALSHKEKE
4960 4970 4980 4990 5000
KFTKAKELIS ADLEHSLAEL SELDGDIQEA LRTRQATLTE IYSQCQRYYQ
5010 5020 5030 5040 5050
VFQAANDWLE DAQELLQLAG NGLDVESAEE NLKSHMEFFS TEDQFHSNLE
5060 5070 5080 5090 5100
ELHSLVATLD PLIKPTGKED LEQKVASLEL RSQRMSRDSG AQVDLLQRCT
5110 5120 5130 5140 5150
AQWHDYQKAR EEVIELMNDT EKKLSEFSLL KTSSSHEAEE KLSEHKALVS
5160 5170 5180 5190 5200
VVNSFHEKIV ALEEKASQLE KTGNDASKAT LSRSMTTVWQ RWTRLRAVAQ
5210 5220 5230 5240 5250
DQEKILEDAV DEWTGFNNKV KKATEMIDQL QDKLPGSSAE KASKAELLTL
5260 5270 5280 5290 5300
LEYHDTFVLE LEQQQSALGM LRQQTLSMLQ DGAAPTPGEE PPLMQEITAM
5310 5320 5330 5340 5350
QDRCLNMQEK VKTNGKLVKQ ELKDREMVET QINSVKCWVQ ETKEYLGNPT
5360 5370 5380 5390 5400
IEIDAQLEEL QILLTEATNH RQNIEKMAEE QKEKYLGLYT ILPSELSLQL
5410 5420 5430 5440 5450
AEVALDLKIR DQIQDKIKEV EQSKATSQEL SRQIQKLAKD LTTILTKLKA
5460 5470 5480 5490 5500
KTDNVVQAKT DQKVLGEELD GCNSKLMELD AAVQKFLEQN GQLGKPLAKK
5510 5520 5530 5540 5550
IGKLTELHQQ TIRQAENRLS KLNQAASHLE EYNEMLELIL KWIEKAKVLA
5560 5570 5580 5590 5600
HGTIAWNSAS QLREQYILHQ TLLEESKEID SELEAMTEKL QYLTSVYCTE
5610 5620 5630 5640 5650
KMSQQVAELG RETEELRQMI KIRLQNLQDA AKDMKKFEAE LKKLQAALEQ
5660 5670 5680 5690 5700
AQATLTSPEV GRLSLKEQLS HRQHLLSEME SLKPKVQAVQ LCQSALRIPE
5710 5720 5730 5740 5750
DVVASLPLCH AALRLQEEAS RLQHTAIQQC NIMQEAVVQY EQYEQEMKHL
5760 5770 5780 5790 5800
QQLIEGAHRE IEDKPVATSN IQELQAQISR HEELAQKIKG YQEQIASLNS
5810 5820 5830 5840 5850
KCKMLTMKAK HATMLLTVTE VEGLAEGTED LDGELLPTPS AHPSVVMMTA
5860 5870 5880 5890 5900
GRCHTLLSPV TEESGEEGTN SEISSPPACR SPSPVANTDA SVNQDIAYYQ
5910 5920 5930 5940 5950
ALSAERLQTD AAKIHPSTSA SQEFYEPGLE PSATAKLGDL QRSWETLKNV
5960 5970 5980 5990 6000
ISEKQRTLYE ALERQQKYQD SLQSISTKME AIELKLSESP EPGRSPESQM
6010 6020 6030 6040 6050
AEHQALMDEI LMLQDEINEL QSSLAEELVS ESCEADPAEQ LALQSTLTVL
6060 6070 6080 6090 6100
AERMSTIRMK ASGKRQLLEE KLNDQLEEQR QEQALQRYRC EADELDSWLL
6110 6120 6130 6140 6150
STKATLDTAL SPPKEPMDME AQLMDCQNML VEIEQKVVAL SELSVHNENL
6160 6170 6180 6190 6200
LLEGKAHTKD EAEQLAGKLR RLKGSLLELQ RALHDKQLNM QGTAQEKEES
6210 6220 6230 6240 6250
DVDLTATQSP GVQEWLAQAR TTWTQQRQSS LQQQKELEQE LAEQKSLLRS
6260 6270 6280 6290 6300
VASRGEEILI QHSAAETSGD AGEKPDVLSQ ELGMEGEKSS AEDQMRMKWE
6310 6320 6330 6340 6350
SLHQEFSTKQ KLLQNVLEQE QEQVLYSRPN RLLSGVPLYK GDVPTQDKSA
6360 6370 6380 6390 6400
VTSLLDGLNQ AFEEVSSQSG GAKRQSIHLE QKLYDGVSAT STWLDDVEER
6410 6420 6430 6440 6450
LFVATALLPE ETETCLFNQE ILAKDIKEMS EEMDKNKNLF SQAFPENGDN
6460 6470 6480 6490 6500
RDVIEDTLGC LLGRLSLLDS VVNQRCHQMK ERLQQILNFQ NDLKVLFTSL
6510 6520 6530 6540 6550
ADNKYIILQK LANVFEQPVA EQIEAIQQAE DGLKEFDAGI IELKRRGDKL
6560 6570 6580 6590 6600
QVEQPSMQEL SKLQDMYDEL MMIIGSRRSG LNQNLTLKSQ YERALQDLAD
6610 6620 6630 6640 6650
LLETGQEKMA GDQKIIVSSK EEIQQLLDKH KEYFQGLESH MILTETLFRK
6660 6670 6680 6690 6700
IISFAVQKET QFHTELMAQA SAVLKRAHKR GVELEYILET WSHLDEDQQE
6710 6720 6730 6740 6750
LSRQLEVVES SIPSVGLVEE NEDRLIDRIT LYQHLKSSLN EYQPKLYQVL
6760 6770 6780 6790 6800
DDGKRLLISI SCSDLESQLN QLGECWLSNT NKMSKELHRL ETILKHWTRY
6810 6820 6830 6840 6850
QSESADLIHW LQSAKDRLEF WTQQSVTVPQ ELEMVRDHLN AFLEFSKEVD
6860 6870 6880 6890 6900
AQSSLKSSVL STGNQLLRLK KVDTATLRSE LSRIDSQWTD LLTNIPAVQE
6910 6920 6930 6940 6950
KLHQLQMDKL PSRHAISEVM SWISLMENVI QKDEDNIKNS IGYKAIHEYL
6960 6970 6980 6990 7000
QKYKGFKIDI NCKQLTVDFV NQSVLQISSQ DVESKRSDKT DFAEQLGAMN
7010 7020 7030 7040 7050
KSWQILQGLV TEKIQLLEGL LESWSEYENN VQCLKTWFET QEKRLKQQHR
7060 7070 7080 7090 7100
IGDQASVQNA LKDCQDLEDL IKAKEKEVEK IEQNGLALIQ NKKEDVSSIV
7110 7120 7130 7140 7150
MSTLRELGQT WANLDHMVGQ LKILLKSVLD QWSSHKVAFD KINSYLMEAR
7160 7170 7180 7190 7200
YSLSRFRLLT GSLEAVQVQV DNLQNLQDDL EKQERSLQKF GSITNQLLKE
7210 7220 7230 7240 7250
CHPPVTETLT NTLKEVNMRW NNLLEEIAEQ LQSSKALLQL WQRYKDYSKQ
7260 7270 7280 7290 7300
CASTVQQQED RTNELLKAAT NKDIADDEVA TWIQDCNDLL KGLGTVKDSL
7310 7320 7330 7340 7350
FFLHELGEQL KQQVDASAAS AIQSDQLSLS QHLCALEQAL CKQQTSLQAG
7360 7370 7380 7390 7400
VLDYETFAKS LEALEAWIVE AEEILQGQDP SHSSDLSTIQ ERMEELKGQM
7410 7420 7430 7440 7450
LKFSSMAPDL DRLNELGYRL PLNDKEIKRM QNLNRHWSLI SSQTTERFSK
7460 7470 7480 7490 7500
LQSFLLQHQT FLEKCETWME FLVQTEQKLA VEISGNYQHL LEQQRAHELF
7510 7520 7530 7540 7550
QAEMFSRQQI LHSIIIDGQR LLEQGQVDDR DEFNLKLTLL SNQWQGVIRR
7560 7570 7580 7590 7600
AQQRRGIIDS QIRQWQRYRE MAEKLRKWLV EVSYLPMSGL GSVPIPLQQA
7610 7620 7630 7640 7650
RTLFDEVQFK EKVFLRQQGS YILTVEAGKQ LLLSADSGAE AALQAELAEI
7660 7670 7680 7690 7700
QEKWKSASMR LEEQKKKLAF LLKDWEKCEK GIADSLEKLR TFKKKLSQSL
7710 7720 7730 7740 7750
PDHHEELHAE QMRCKELENA VGSWTDDLTQ LSLLKDTLSA YISADDISIL
7760 7770 7780 7790 7800
NERVELLQRQ WEELCHQLSL RRQQIGERLN EWAVFSEKNK ELCEWLTQME
7810 7820 7830 7840 7850
SKVSQNGDIL IEEMIEKLKK DYQEEIAIAQ ENKIQLQQMG ERLAKASHES
7860 7870 7880 7890 7900
KASEIEYKLG KVNDRWQHLL DLIAARVKKL KETLVAVQQL DKNMSSLRTW
7910 7920 7930 7940 7950
LAHIESELAK PIVYDSCNSE EIQRKLNEQQ ELQRDIEKHS TGVASVLNLC
7960 7970 7980 7990 8000
EVLLHDCDAC ATDAECDSIQ QATRNLDRRW RNICAMSMER RLKIEETWRL
8010 8020 8030 8040 8050
WQKFLDDYSR FEDWLKSSER TAAFPSSSGV IYTVAKEELK KFEAFQRQVH
8060 8070 8080 8090 8100
ECLTQLELIN KQYRRLAREN RTDSACSLKQ MVHEGNQRWD NLQKRVTSIL
8110 8120 8130 8140 8150
RRLKHFIGQR EEFETARDSI LVWLTEMDLQ LTNIEHFSEC DVQAKIKQLK
8160 8170 8180 8190 8200
AFQQEISLNH NKIEQIIAQG EQLIEKSEPL DAAIIEEELD ELRRYCQEVF
8210 8220 8230 8240 8250
GRVERYHKKL IRLPLPDDEH DLSDRELELE DSAALSDLHW HDRSADSLLS
8260 8270 8280 8290 8300
PQPSSNLSLS LAQPLRSERS GRDTPASVDS IPLEWDHDYD LSRDLESAMS
8310 8320 8330 8340 8350
RALPSEDEEG QDDKDFYLRG AVGLSGDHSA LESQIRQLGK ALDDSRFQIQ
8360 8370 8380 8390 8400
QTENIIRSKT PTGPELDTSY KGYMKLLGEC SSSIDSVKRL EHKLKEEEES
8410 8420 8430 8440 8450
LPGFVNLHST ETQTAGVIDR WELLQAQALS KELRMKQNLQ KWQQFNSDLN
8460 8470 8480 8490 8500
SIWAWLGDTE EELEQLQRLE LSTDIQTIEL QIKKLKELQK AVDHRKAIIL
8510 8520 8530 8540 8550
SINLCSPEFT QADSKESRDL QDRLSQMNGR WDRVCSLLEE WRGLLQDALM
8560 8570 8580 8590 8600
QCQGFHEMSH GLLLMLENID RRKNEIVPID SNLDAEILQD HHKQLMQIKH
8610 8620 8630 8640 8650
ELLESQLRVA SLQDMSCQLL VNAEGTDCLE AKEKVHVIGN RLKLLLKEVS
8660 8670 8680 8690 8700
RHIKELEKLL DVSSSQQDLS SWSSADELDT SGSVSPTSGR STPNRQKTPR
8710 8720 8730 8740 8750
GKCSLSQPGP SVSSPHSRST KGGSDSSLSE PGPGRSGRGF LFRVLRAALP
8760 8770 8780 8790
LQLLLLLLIG LACLVPMSEE DYSCALSNNF ARSFHPMLRY TNGPPPL
Length:8,797
Mass (Da):1,011,086
Last modified:November 28, 2012 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i02A53B8AFBF34A17
GO
Isoform 2 (identifier: Q8NF91-2) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-5476: Missing.

Show »
Length:3,321
Mass (Da):380,360
Checksum:iDEAC32C9FD296ABD
GO
Isoform 3 (identifier: Q8NF91-3) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-7838: Missing.
     8325-8325: S → SDVMIPESPEAYVKLTENAIKNTS

Show »
Length:982
Mass (Da):112,393
Checksum:i332A6E5ABA5A2248
GO
Isoform 4 (identifier: Q8NF91-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-103: K → KSMHRGSP
     3620-3641: Missing.
     3912-3967: Missing.
     8325-8325: S → SDVMIPESPEAYVKLTENAIKNTS

Show »
Length:8,749
Mass (Da):1,005,239
Checksum:i2D846CDD4BC30A8D
GO
Isoform 5 (identifier: Q8NF91-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1437-1443: DIKTMEM → EYVIDKS
     1444-8797: Missing.

Show »
Length:1,443
Mass (Da):167,250
Checksum:i01D6C47A6D74C395
GO
Isoform 6 (identifier: Q8NF91-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1702-1725: LQNEVVSQASFYSKLLQLKESLFS → SSRKCEEGKNKMLFVTVTLFKIIK
     1726-8797: Missing.

Show »
Length:1,725
Mass (Da):199,267
Checksum:i1ED934CA22A45E49
GO
Isoform 7 (identifier: Q8NF91-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     5571-5580: TLLEESKEID → VTLGKIIFKK
     5581-8797: Missing.

Show »
Length:5,580
Mass (Da):642,672
Checksum:iEEDEA59F5A4DBD2A
GO
Isoform 8 (identifier: Q8NF91-8) [UniParc]FASTAAdd to basket
Also known as: Beta 2

The sequence of this isoform differs from the canonical sequence as follows:
     1-5585: Missing.

Show »
Length:3,212
Mass (Da):367,873
Checksum:i9D23ECB198DE3636
GO
Isoform 9 (identifier: Q8NF91-9) [UniParc]FASTAAdd to basket
Also known as: Alpha 2

The sequence of this isoform differs from the canonical sequence as follows:
     1-7843: Missing.
     7844-7874: AKASHESKASEIEYKLGKVNDRWQHLLDLIA → MVVAEDLSALRMAEDGCVDADLPDCNCDVTR
     8325-8325: S → SDVMIPESPEAYVKLTENAIKNTS

Show »
Length:977
Mass (Da):111,583
Checksum:i621DAF9F731FEC9F
GO
Isoform 10 (identifier: Q8NF91-10) [UniParc]FASTAAdd to basket
Also known as: drop1

The sequence of this isoform differs from the canonical sequence as follows:
     297-313: Missing.
     3049-3049: C → W
     3050-8797: Missing.

Note: Lost in uterus, cervix, kidney, lung, thyroid and pancreas carcinomas, already at early tumor stages.1 Publication
Show »
Length:3,032
Mass (Da):349,010
Checksum:iD13770B93FD427D8
GO
Isoform 11 (identifier: Q8NF91-11) [UniParc]FASTAAdd to basket
Also known as: myne-1, 131kDa

The sequence of this isoform differs from the canonical sequence as follows:
     1-7658: Missing.

Note: Muscle-specific.Curated
Show »
Length:1,139
Mass (Da):131,185
Checksum:iE075A5CDBDAAFC43
GO
Isoform GSRP-56 (identifier: Q8NF91-12) [UniParc]FASTAAdd to basket
Also known as: 56kDa

The sequence of this isoform differs from the canonical sequence as follows:
     1-2918: Missing.
     3325-3394: ALLSVKQEKE...EGALSKWTSY → VCIFTQKYLQ...PGCFPKNKIK
     3395-8797: Missing.

Note: Interacts with TRPV2.1 Publication
Show »
Length:476
Mass (Da):54,914
Checksum:i96F892E4F14839B4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 26 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WAI0F8WAI0_HUMAN
Nesprin-1
SYNE1
975Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DG40A0A0C4DG40_HUMAN
Nesprin-1
SYNE1
8,749Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ENN3E7ENN3_HUMAN
Nesprin-1
SYNE1
8,392Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JV20Q5JV20_HUMAN
Nesprin-1
SYNE1
952Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y326H0Y326_HUMAN
Nesprin-1
SYNE1
1,355Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y325H0Y325_HUMAN
Nesprin-1
SYNE1
1,654Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GZ83F5GZ83_HUMAN
Nesprin-1
SYNE1
195Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYQ7F5GYQ7_HUMAN
Nesprin-1
SYNE1
615Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H6R8F5H6R8_HUMAN
Nesprin-1
SYNE1
242Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YGD3H0YGD3_HUMAN
Nesprin-1
SYNE1
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC02992 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH39121 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAM95335 differs from that shown. Contaminating sequence. Sequence of unknown origin.Curated
The sequence BAB71097 differs from that shown. Chimeric cDNA.Curated
The sequence BAC04284 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAD28486 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti98F → L in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti494S → P in AAM95335 (PubMed:12808039).Curated1
Sequence conflicti1440T → P in CAD28486 (PubMed:17974005).Curated1
Sequence conflicti3096N → D in BAB71097 (PubMed:14702039).Curated1
Sequence conflicti5526A → T in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti5564E → K in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti5735E → A in AAN03486 (PubMed:15093733).Curated1
Sequence conflicti6549K → E in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6549K → E in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6549K → E in AAO27774 (Ref. 6) Curated1
Sequence conflicti6626L → P in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6626L → P in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6626L → P in AAO27774 (Ref. 6) Curated1
Sequence conflicti6645E → V in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6645E → V in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6645E → V in AAO27774 (Ref. 6) Curated1
Sequence conflicti6923I → T in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6923I → T in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6923I → T in AAO27774 (Ref. 6) Curated1
Sequence conflicti6929V → A in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6929V → A in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6929V → A in AAO27774 (Ref. 6) Curated1
Sequence conflicti7075E → D in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti7075E → D in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti7075E → D in AAO27774 (Ref. 6) Curated1
Sequence conflicti7091N → T in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti7091N → T in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti7091N → T in AAO27774 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056211655Q → R Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs9397509EnsemblClinVar.1
Natural variantiVAR_056212885L → V. Corresponds to variant dbSNP:rs17082709EnsemblClinVar.1
Natural variantiVAR_0562131035V → A. Corresponds to variant dbSNP:rs214976EnsemblClinVar.1
Natural variantiVAR_0741901062R → S1 Publication1
Natural variantiVAR_0562142030S → G. Corresponds to variant dbSNP:rs35763277EnsemblClinVar.1
Natural variantiVAR_0562152795A → V. Corresponds to variant dbSNP:rs214950EnsemblClinVar.1
Natural variantiVAR_0705613088A → T Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398123005EnsemblClinVar.1
Natural variantiVAR_0362503671V → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs567753957EnsemblClinVar.1
Natural variantiVAR_0562163874K → T. Corresponds to variant dbSNP:rs13210127EnsemblClinVar.1
Natural variantiVAR_0705623892L → S Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs180727534EnsemblClinVar.1
Natural variantiVAR_0562173954S → T. Corresponds to variant dbSNP:rs7775119Ensembl.1
Natural variantiVAR_0562184060E → D. Corresponds to variant dbSNP:rs4645434EnsemblClinVar.1
Natural variantiVAR_0562194121K → N. Corresponds to variant dbSNP:rs28385621EnsemblClinVar.1
Natural variantiVAR_0562204121K → R. Corresponds to variant dbSNP:rs9479297EnsemblClinVar.1
Natural variantiVAR_0562214203E → K. Corresponds to variant dbSNP:rs2130262EnsemblClinVar.1
Natural variantiVAR_0362514210E → D in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0362524223R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs140492158Ensembl.1
Natural variantiVAR_0562224546V → I. Corresponds to variant dbSNP:rs4870093EnsemblClinVar.1
Natural variantiVAR_0562234596S → T2 PublicationsCorresponds to variant dbSNP:rs6911096EnsemblClinVar.1
Natural variantiVAR_0562244944L → M. Corresponds to variant dbSNP:rs2306916EnsemblClinVar.1
Natural variantiVAR_0562255015L → M2 PublicationsCorresponds to variant dbSNP:rs2306916EnsemblClinVar.1
Natural variantiVAR_0562265377M → L. Corresponds to variant dbSNP:rs35987150EnsemblClinVar.1
Natural variantiVAR_0562275426T → M. Corresponds to variant dbSNP:rs2306914EnsemblClinVar.1
Natural variantiVAR_0362535507L → R in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0562286566M → I. Corresponds to variant dbSNP:rs35654757EnsemblClinVar.1
Natural variantiVAR_0562296664T → I. Corresponds to variant dbSNP:rs35079654EnsemblClinVar.1
Natural variantiVAR_0562306951Q → H. Corresponds to variant dbSNP:rs3945783Ensembl.1
Natural variantiVAR_0562317302F → V4 PublicationsCorresponds to variant dbSNP:rs2147377EnsemblClinVar.1
Natural variantiVAR_0562327506S → G. Corresponds to variant dbSNP:rs35763277EnsemblClinVar.1
Natural variantiVAR_0629748095R → H in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103246EnsemblClinVar.1
Natural variantiVAR_0562338161N → H. Corresponds to variant dbSNP:rs36215251EnsemblClinVar.1
Natural variantiVAR_0562348168A → S. Corresponds to variant dbSNP:rs17082236EnsemblClinVar.1
Natural variantiVAR_0829868193 – 8797Missing in AMCM. 1 PublicationAdd BLAST605
Natural variantiVAR_0155488323G → A5 PublicationsCorresponds to variant dbSNP:rs2252755EnsemblClinVar.1
Natural variantiVAR_0629758387V → L in EDMD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs119103247EnsemblClinVar.1
Natural variantiVAR_0629768461E → K in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103248EnsemblClinVar.1
Natural variantiVAR_0362548468R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs143049227EnsemblClinVar.1
Natural variantiVAR_0562358687T → I. Corresponds to variant dbSNP:rs35591210EnsemblClinVar.1
Natural variantiVAR_0562368741L → M. Corresponds to variant dbSNP:rs2295190EnsemblClinVar.1
Natural variantiVAR_0829878746 – 8797Missing in AMCM. 1 PublicationAdd BLAST52

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0071331 – 7843Missing in isoform 9. 1 PublicationAdd BLAST7843
Alternative sequenceiVSP_0071321 – 7838Missing in isoform 3. 1 PublicationAdd BLAST7838
Alternative sequenceiVSP_0574761 – 7658Missing in isoform 11. 1 PublicationAdd BLAST7658
Alternative sequenceiVSP_0071311 – 5585Missing in isoform 8. 1 PublicationAdd BLAST5585
Alternative sequenceiVSP_0071301 – 5476Missing in isoform 2. 1 PublicationAdd BLAST5476
Alternative sequenceiVSP_0574771 – 2918Missing in isoform GSRP-56. 1 PublicationAdd BLAST2918
Alternative sequenceiVSP_007134103K → KSMHRGSP in isoform 4. 1 Publication1
Alternative sequenceiVSP_057478297 – 313Missing in isoform 10. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_0071351437 – 1443DIKTMEM → EYVIDKS in isoform 5. 1 Publication7
Alternative sequenceiVSP_0071361444 – 8797Missing in isoform 5. 1 PublicationAdd BLAST7354
Alternative sequenceiVSP_0071371702 – 1725LQNEV…ESLFS → SSRKCEEGKNKMLFVTVTLF KIIK in isoform 6. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_0071381726 – 8797Missing in isoform 6. 1 PublicationAdd BLAST7072
Alternative sequenceiVSP_0574793049C → W in isoform 10. 1 Publication1
Alternative sequenceiVSP_0574803050 – 8797Missing in isoform 10. 1 PublicationAdd BLAST5748
Alternative sequenceiVSP_0574813325 – 3394ALLSV…KWTSY → VCIFTQKYLQPTEFVFLKIS RLHPPGVMMSHSLHDKSQML CECNAVCLGCTCQRIPESSD PGCFPKNKIK in isoform GSRP-56. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_0574823395 – 8797Missing in isoform GSRP-56. 1 PublicationAdd BLAST5403
Alternative sequenceiVSP_0071393620 – 3641Missing in isoform 4. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_0071403912 – 3967Missing in isoform 4. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_0071415571 – 5580TLLEESKEID → VTLGKIIFKK in isoform 7. 1 Publication10
Alternative sequenceiVSP_0071425581 – 8797Missing in isoform 7. 1 PublicationAdd BLAST3217
Alternative sequenceiVSP_0071437844 – 7874AKASH…LDLIA → MVVAEDLSALRMAEDGCVDA DLPDCNCDVTR in isoform 9. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_0071448325S → SDVMIPESPEAYVKLTENAI KNTS in isoform 3, isoform 4 and isoform 9. 3 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY061755 mRNA Translation: AAL33798.1
AY061756 mRNA Translation: AAL33799.1
AY184203 mRNA Translation: AAO27771.1
AY184206 mRNA Translation: AAO27774.1
AF535142 mRNA Translation: AAN03486.1
AF444779 mRNA Translation: AAL38031.1
FM162565 mRNA Translation: CAQ57272.1
AF495910 mRNA Translation: AAN60442.1
AL049548 Genomic DNA No translation available.
AL136079 Genomic DNA No translation available.
AL589963 Genomic DNA No translation available.
AL591507 Genomic DNA No translation available.
AL078582 Genomic DNA No translation available.
AL138832 Genomic DNA No translation available.
AL357081 Genomic DNA No translation available.
AL450401 Genomic DNA No translation available.
KF458330 Genomic DNA No translation available.
BC039121 mRNA Translation: AAH39121.1 Different initiation.
AY135172 mRNA Translation: AAM95335.1 Sequence problems.
AY183142 mRNA Translation: AAO23669.1
AK056122 mRNA Translation: BAB71097.1 Sequence problems.
AK094094 mRNA Translation: BAC04284.1 Different initiation.
AB051543 mRNA Translation: BAB21847.1
AL713682 mRNA Translation: CAD28486.2 Different initiation.
AB033088 mRNA Translation: BAA86576.1
AB018339 mRNA Translation: BAA34516.2
AF043290 mRNA Translation: AAC02992.2 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5235.1 [Q8NF91-4]
CCDS5236.2 [Q8NF91-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001334631.1, NM_001347702.1
NP_149062.1, NM_033071.3
NP_892006.3, NM_182961.3 [Q8NF91-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000367253; ENSP00000356222; ENSG00000131018 [Q8NF91-6]
ENST00000367255; ENSP00000356224; ENSG00000131018 [Q8NF91-1]
ENST00000413186; ENSP00000414510; ENSG00000131018 [Q8NF91-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23345

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23345

UCSC genome browser

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UCSCi
uc003qot.5 human [Q8NF91-1]
uc003qov.4 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Enaptin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY061755 mRNA Translation: AAL33798.1
AY061756 mRNA Translation: AAL33799.1
AY184203 mRNA Translation: AAO27771.1
AY184206 mRNA Translation: AAO27774.1
AF535142 mRNA Translation: AAN03486.1
AF444779 mRNA Translation: AAL38031.1
FM162565 mRNA Translation: CAQ57272.1
AF495910 mRNA Translation: AAN60442.1
AL049548 Genomic DNA No translation available.
AL136079 Genomic DNA No translation available.
AL589963 Genomic DNA No translation available.
AL591507 Genomic DNA No translation available.
AL078582 Genomic DNA No translation available.
AL138832 Genomic DNA No translation available.
AL357081 Genomic DNA No translation available.
AL450401 Genomic DNA No translation available.
KF458330 Genomic DNA No translation available.
BC039121 mRNA Translation: AAH39121.1 Different initiation.
AY135172 mRNA Translation: AAM95335.1 Sequence problems.
AY183142 mRNA Translation: AAO23669.1
AK056122 mRNA Translation: BAB71097.1 Sequence problems.
AK094094 mRNA Translation: BAC04284.1 Different initiation.
AB051543 mRNA Translation: BAB21847.1
AL713682 mRNA Translation: CAD28486.2 Different initiation.
AB033088 mRNA Translation: BAA86576.1
AB018339 mRNA Translation: BAA34516.2
AF043290 mRNA Translation: AAC02992.2 Different initiation.
CCDSiCCDS5235.1 [Q8NF91-4]
CCDS5236.2 [Q8NF91-1]
RefSeqiNP_001334631.1, NM_001347702.1
NP_149062.1, NM_033071.3
NP_892006.3, NM_182961.3 [Q8NF91-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4DXRX-ray2.32B8769-8797[»]
SMRiQ8NF91
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi116928, 44 interactors
CORUMiQ8NF91
IntActiQ8NF91, 36 interactors
MINTiQ8NF91
STRINGi9606.ENSP00000356224

PTM databases

CarbonylDBiQ8NF91
iPTMnetiQ8NF91
PhosphoSitePlusiQ8NF91

Polymorphism and mutation databases

BioMutaiSYNE1
DMDMi425906075

Proteomic databases

EPDiQ8NF91
jPOSTiQ8NF91
MassIVEiQ8NF91
MaxQBiQ8NF91
PaxDbiQ8NF91
PeptideAtlasiQ8NF91
PRIDEiQ8NF91
ProteomicsDBi17580
34724
73268 [Q8NF91-1]
73269 [Q8NF91-2]
73270 [Q8NF91-3]
73271 [Q8NF91-4]
73272 [Q8NF91-5]
73273 [Q8NF91-6]
73274 [Q8NF91-7]
73275 [Q8NF91-8]
73276 [Q8NF91-9]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
19931 145 antibodies

Genome annotation databases

EnsembliENST00000367253; ENSP00000356222; ENSG00000131018 [Q8NF91-6]
ENST00000367255; ENSP00000356224; ENSG00000131018 [Q8NF91-1]
ENST00000413186; ENSP00000414510; ENSG00000131018 [Q8NF91-5]
GeneIDi23345
KEGGihsa:23345
UCSCiuc003qot.5 human [Q8NF91-1]
uc003qov.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23345
DisGeNETi23345

GeneCards: human genes, protein and diseases

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GeneCardsi
SYNE1
GeneReviewsiSYNE1
HGNCiHGNC:17089 SYNE1
HPAiENSG00000131018 Low tissue specificity
MalaCardsiSYNE1
MIMi608441 gene
610743 phenotype
612998 phenotype
618484 phenotype
neXtProtiNX_Q8NF91
OpenTargetsiENSG00000131018
Orphaneti98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
88644 Autosomal recessive ataxia, Beauce type
319332 Autosomal recessive myogenic arthrogryposis multiplex congenita
PharmGKBiPA134975331

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0516 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00940000154481
HOGENOMiCLU_000025_1_0_1
InParanoidiQ8NF91
KOiK19326
OMAiEMQLHQM
OrthoDBi47at2759
TreeFamiTF329280

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SYNE1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Enaptin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23345
PharosiQ8NF91 Tbio

Protein Ontology

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PROi
PR:Q8NF91
RNActiQ8NF91 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131018 Expressed in cerebellum and 228 other tissues
ExpressionAtlasiQ8NF91 baseline and differential
GenevisibleiQ8NF91 HS

Family and domain databases

CDDicd00014 CH, 2 hits
Gene3Di1.10.418.10, 2 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR012315 KASH
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat
IPR030265 SYNE1
PANTHERiPTHR14514:SF3 PTHR14514:SF3, 1 hit
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF10541 KASH, 1 hit
PF00435 Spectrin, 10 hits
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM01249 KASH, 1 hit
SM00150 SPEC, 45 hits
SUPFAMiSSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS51049 KASH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYNE1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NF91
Secondary accession number(s): B3W695
, E7EQI5, H0Y4C0, O94890, Q3ZCV0, Q5JV19, Q5JV22, Q8N9P7, Q8TCP1, Q8WWW6, Q8WWW7, Q8WXF6, Q96N17, Q9C0A7, Q9H525, Q9H526, Q9NS36, Q9NU50, Q9UJ06, Q9UJ07, Q9ULF8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: November 28, 2012
Last modified: April 22, 2020
This is version 188 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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