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Protein

Nexilin

Gene

NEXN

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

Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.3 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

  • actin filament binding Source: UniProtKB
  • cell-cell adhesion mediator activity Source: GO_Central
  • structural constituent of muscle Source: UniProtKB

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

<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_and_taxonomy_section">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:
Nexilin
Alternative name(s):
F-actin-binding protein
Nelin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:NEXNImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000162614.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29557 NEXN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613121 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q0ZGT2

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton

<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

Cardiomyopathy, dilated 1CC (CMD1CC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:613122
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_063009611P → T in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 PublicationCorresponds to variant dbSNP:rs137853198EnsemblClinVar.1
Natural variantiVAR_063010650Missing in CMD1CC; affects cardiac Z-disk integrity; no effect on protein expression and stability. 1 Publication1
Natural variantiVAR_063011652Y → C in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 PublicationCorresponds to variant dbSNP:rs137853197EnsemblClinVar.1
Cardiomyopathy, familial hypertrophic 20 (CMH20)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
See also OMIM:613876
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065477131Q → E in CMH20; affects interaction with ACTA1 and F-actin. 1 PublicationCorresponds to variant dbSNP:rs387907079EnsemblClinVar.1
Natural variantiVAR_065478279R → C in CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered. 1 PublicationCorresponds to variant dbSNP:rs146245480EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
91624

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

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GeneReviewsi
NEXN

MalaCards human disease database

More...
MalaCardsi
NEXN
MIMi613122 phenotype
613876 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000162614

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

More...
Orphaneti
154 Familial isolated dilated cardiomyopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134974801

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NEXN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
121945484

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003020851 – 675NexilinAdd BLAST675

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 residuei80PhosphoserineCombined sources1
Modified residuei241PhosphoserineCombined sources1
Modified residuei357PhosphoserineCombined sources1
Modified residuei365PhosphoserineCombined sources1
Modified residuei370PhosphothreonineCombined sources1
Modified residuei564PhosphoserineBy similarity1
Modified residuei569PhosphoserineBy similarity1
Isoform 4 (identifier: Q0ZGT2-4)
Modified residuei16PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q0ZGT2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q0ZGT2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q0ZGT2

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

More...
PaxDbi
Q0ZGT2

PeptideAtlas

More...
PeptideAtlasi
Q0ZGT2

PRoteomics IDEntifications database

More...
PRIDEi
Q0ZGT2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58848
58849 [Q0ZGT2-2]
58850 [Q0ZGT2-3]
58851 [Q0ZGT2-4]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q0ZGT2-4 [Q0ZGT2-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q0ZGT2

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

More...
PhosphoSitePlusi
Q0ZGT2

<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

Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000162614 Expressed in 177 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis

CleanEx database of gene expression profiles

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CleanExi
HS_NEXN

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q0ZGT2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q0ZGT2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA011185

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with F-actin.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124855, 52 interactors

Protein interaction database and analysis system

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IntActi
Q0ZGT2, 38 interactors

Molecular INTeraction database

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MINTi
Q0ZGT2

STRING: functional protein association networks

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STRINGi
9606.ENSP00000333938

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q0ZGT2

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

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SMRi
Q0ZGT2

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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_and_domains_section">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>Domaini582 – 670Ig-likeSequence analysisAdd BLAST89

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 biasi43 – 575Glu-richSequence analysisAdd BLAST533

Keywords - Domaini

Immunoglobulin domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IF6R Eukaryota
ENOG4110P6X LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00730000111176

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG066529

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q0ZGT2

Identification of Orthologs from Complete Genome Data

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OMAi
MNGSTIE

Database of Orthologous Groups

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OrthoDBi
614199at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q0ZGT2

TreeFam database of animal gene trees

More...
TreeFami
TF328960

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07679 I-set, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00409 IG, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48726 SSF48726, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50835 IG_LIKE, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q0ZGT2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MNDISQKAEI LLSSSKPVPK TYVPKLGKGD VKDKFEAMQR AREERNQRRS
60 70 80 90 100
RDEKQRRKEQ YIREREWNRR KQEIKEMLAS DDEEDVSSKV EKAYVPKLTG
110 120 130 140 150
TVKGRFAEME KQRQEEQRKR TEEERKRRIE QDMLEKRKIQ RELAKRAEQI
160 170 180 190 200
EDINNTGTES ASEEGDDSLL ITVVPVKSYK TSGKMKKNFE DLEKEREEKE
210 220 230 240 250
RIKYEEDKRI RYEEQRPSLK EAKCLSLVMD DEIESEAKKE SLSPGKLKLT
260 270 280 290 300
FEELERQRQE NRKKQAEEEA RKRLEEEKRA FEEARRQMVN EDEENQDTAK
310 320 330 340 350
IFKGYRPGKL KLSFEEMERQ RREDEKRKAE EEARRRIEEE KKAFAEARRN
360 370 380 390 400
MVVDDDSPEM YKTISQEFLT PGKLEINFEE LLKQKMEEEK RRTEEERKHK
410 420 430 440 450
LEMEKQEFEQ LRQEMGEEEE ENETFGLSRE YEELIKLKRS GSIQAKNLKS
460 470 480 490 500
KFEKIGQLSE KEIQKKIEEE RARRRAIDLE IKEREAENFH EEDDVDVRPA
510 520 530 540 550
RKSEAPFTHK VNMKARFEQM AKAREEEEQR RIEEQKLLRM QFEQREIDAA
560 570 580 590 600
LQKKREEEEE EEGSIMNGST AEDEEQTRSG APWFKKPLKN TSVVDSEPVR
610 620 630 640 650
FTVKVTGEPK PEITWWFEGE ILQDGEDYQY IERGETYCLY LPETFPEDGG
660 670
EYMCKAVNNK GSAASTCILT IESKN
Length:675
Mass (Da):80,658
Last modified:August 22, 2006 - v1
<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:i18D6336E62503E7F
GO
Isoform 21 Publication (identifier: Q0ZGT2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-163: Missing.
     673-675: SKN → TDDY

Note: No experimental confirmation available.Curated
Show »
Length:662
Mass (Da):79,362
Checksum:iE91BF5E00A8016D4
GO
Isoform 31 Publication (identifier: Q0ZGT2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     237-298: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:613
Mass (Da):73,128
Checksum:i90EC363A14C50E7B
GO
Isoform 4 (identifier: Q0ZGT2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-72: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:611
Mass (Da):72,732
Checksum:iD7A8A66A2BEF4255
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BXY5H7BXY5_HUMAN
Nexilin
NEXN
576Annotation 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>
E7ETM8E7ETM8_HUMAN
Nexilin
NEXN
321Annotation 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>
E7EUA0E7EUA0_HUMAN
Nexilin
NEXN
435Annotation 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>

<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 AAH17827 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH55084 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH55084 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI11396 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI14445 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI14446 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB71622 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti94 – 101YVPKLTGT → NLPFTVP in AAD29607 (PubMed:15489334).Curated8
Sequence conflicti328K → E in AAI14446 (PubMed:12053183).Curated1
Sequence conflicti429R → K in AAD29607 (PubMed:15489334).Curated1
Sequence conflicti448L → Q in AAH17827 (PubMed:12053183).Curated1
Sequence conflicti476A → T in BAB71622 (PubMed:14702039).Curated1
Sequence conflicti637Y → H in BAB71622 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065477131Q → E in CMH20; affects interaction with ACTA1 and F-actin. 1 PublicationCorresponds to variant dbSNP:rs387907079EnsemblClinVar.1
Natural variantiVAR_049963245G → R3 PublicationsCorresponds to variant dbSNP:rs1166698EnsemblClinVar.1
Natural variantiVAR_065478279R → C in CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered. 1 PublicationCorresponds to variant dbSNP:rs146245480EnsemblClinVar.1
Natural variantiVAR_059414335R → K. Corresponds to variant dbSNP:rs9660322Ensembl.1
Natural variantiVAR_063009611P → T in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 PublicationCorresponds to variant dbSNP:rs137853198EnsemblClinVar.1
Natural variantiVAR_063010650Missing in CMD1CC; affects cardiac Z-disk integrity; no effect on protein expression and stability. 1 Publication1
Natural variantiVAR_063011652Y → C in CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability. 1 PublicationCorresponds to variant dbSNP:rs137853197EnsemblClinVar.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0434399 – 72Missing in isoform 4. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_052541150 – 163Missing in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_052542237 – 298Missing in isoform 3. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_052543673 – 675SKN → TDDY in isoform 2. 1 Publication3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
DQ464902 mRNA Translation: ABE97925.1
AK057954 mRNA Translation: BAB71622.1 Different initiation.
AK298565 mRNA Translation: BAG60759.1
AC096948 Genomic DNA No translation available.
AC138392 Genomic DNA No translation available.
BC055084 mRNA Translation: AAH55084.1 Sequence problems.
BC017827 mRNA Translation: AAH17827.1 Sequence problems.
BC111395 mRNA Translation: AAI11396.1 Different initiation.
BC114444 mRNA Translation: AAI14445.1 Different initiation.
BC114445 mRNA Translation: AAI14446.1 Different initiation.
AF114264 mRNA Translation: AAD29607.1
S67069 mRNA Translation: AAB28815.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS41351.1 [Q0ZGT2-1]
CCDS53335.1 [Q0ZGT2-4]

NCBI Reference Sequences

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RefSeqi
NP_001165780.1, NM_001172309.1 [Q0ZGT2-4]
NP_653174.3, NM_144573.3 [Q0ZGT2-1]
XP_005271380.1, XM_005271323.3 [Q0ZGT2-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.612385

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000330010; ENSP00000327363; ENSG00000162614 [Q0ZGT2-4]
ENST00000334785; ENSP00000333938; ENSG00000162614 [Q0ZGT2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
91624

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:91624

UCSC genome browser

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UCSCi
uc001dib.5 human [Q0ZGT2-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ464902 mRNA Translation: ABE97925.1
AK057954 mRNA Translation: BAB71622.1 Different initiation.
AK298565 mRNA Translation: BAG60759.1
AC096948 Genomic DNA No translation available.
AC138392 Genomic DNA No translation available.
BC055084 mRNA Translation: AAH55084.1 Sequence problems.
BC017827 mRNA Translation: AAH17827.1 Sequence problems.
BC111395 mRNA Translation: AAI11396.1 Different initiation.
BC114444 mRNA Translation: AAI14445.1 Different initiation.
BC114445 mRNA Translation: AAI14446.1 Different initiation.
AF114264 mRNA Translation: AAD29607.1
S67069 mRNA Translation: AAB28815.1
CCDSiCCDS41351.1 [Q0ZGT2-1]
CCDS53335.1 [Q0ZGT2-4]
RefSeqiNP_001165780.1, NM_001172309.1 [Q0ZGT2-4]
NP_653174.3, NM_144573.3 [Q0ZGT2-1]
XP_005271380.1, XM_005271323.3 [Q0ZGT2-2]
UniGeneiHs.612385

3D structure databases

ProteinModelPortaliQ0ZGT2
SMRiQ0ZGT2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124855, 52 interactors
IntActiQ0ZGT2, 38 interactors
MINTiQ0ZGT2
STRINGi9606.ENSP00000333938

PTM databases

iPTMnetiQ0ZGT2
PhosphoSitePlusiQ0ZGT2

Polymorphism and mutation databases

BioMutaiNEXN
DMDMi121945484

Proteomic databases

EPDiQ0ZGT2
jPOSTiQ0ZGT2
MaxQBiQ0ZGT2
PaxDbiQ0ZGT2
PeptideAtlasiQ0ZGT2
PRIDEiQ0ZGT2
ProteomicsDBi58848
58849 [Q0ZGT2-2]
58850 [Q0ZGT2-3]
58851 [Q0ZGT2-4]
TopDownProteomicsiQ0ZGT2-4 [Q0ZGT2-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330010; ENSP00000327363; ENSG00000162614 [Q0ZGT2-4]
ENST00000334785; ENSP00000333938; ENSG00000162614 [Q0ZGT2-1]
GeneIDi91624
KEGGihsa:91624
UCSCiuc001dib.5 human [Q0ZGT2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
91624
DisGeNETi91624
EuPathDBiHostDB:ENSG00000162614.18

GeneCards: human genes, protein and diseases

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GeneCardsi
NEXN
GeneReviewsiNEXN
HGNCiHGNC:29557 NEXN
HPAiHPA011185
MalaCardsiNEXN
MIMi613121 gene
613122 phenotype
613876 phenotype
neXtProtiNX_Q0ZGT2
OpenTargetsiENSG00000162614
Orphaneti154 Familial isolated dilated cardiomyopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA134974801

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF6R Eukaryota
ENOG4110P6X LUCA
GeneTreeiENSGT00730000111176
HOVERGENiHBG066529
InParanoidiQ0ZGT2
OMAiMNGSTIE
OrthoDBi614199at2759
PhylomeDBiQ0ZGT2
TreeFamiTF328960

Miscellaneous databases

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

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ChiTaRSi
NEXN human

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

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GenomeRNAii
91624

Protein Ontology

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PROi
PR:Q0ZGT2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162614 Expressed in 177 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis
CleanExiHS_NEXN
ExpressionAtlasiQ0ZGT2 baseline and differential
GenevisibleiQ0ZGT2 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
PfamiView protein in Pfam
PF07679 I-set, 1 hit
SMARTiView protein in SMART
SM00409 IG, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiNEXN_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: Q0ZGT2
Secondary accession number(s): A0PJ84
, B4DPZ7, Q0D2H2, Q14CC2, Q14CC3, Q16081, Q7Z2X0, Q96DL0, Q9Y2V1
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: August 22, 2006
Last modified: January 16, 2019
This is version 123 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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