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Protein

Nebulette

Gene

NEBL

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

Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028).2 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
  • cytoskeletal protein binding Source: UniProtKB
  • filamin binding Source: UniProtKB
  • structural constituent of muscle Source: UniProtKB
  • tropomyosin binding Source: UniProtKB

GO - Biological processi

  • cardiac muscle thin filament assembly Source: UniProtKB

<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:
Nebulette
Alternative name(s):
Actin-binding Z-disk protein
<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:NEBL
Synonyms:LNEBL
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000078114.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16932 NEBL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605491 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O76041

<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

Cytoplasm

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
10529

MalaCards human disease database

More...
MalaCardsi
NEBL

Open Targets

More...
OpenTargetsi
ENSG00000078114

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
PA134981177

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NEBL

<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_00000967741 – 1014NebuletteAdd BLAST1014

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 residuei795Omega-N-methylarginineCombined sources1
Isoform 2 (identifier: O76041-2)
Modified residuei96Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O76041

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

More...
PaxDbi
O76041

PeptideAtlas

More...
PeptideAtlasi
O76041

PRoteomics IDEntifications database

More...
PRIDEi
O76041

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50360
50361 [O76041-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O76041

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

More...
PhosphoSitePlusi
O76041

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O76041

<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 cardiac muscle, but not in skeletal or smooth muscle. Localized to Z-lines in cardiac cells and to dense bodies in nonmuscle cells. Isoform 2 is expressed in non-muscle cells such as in fibroblasts.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000078114 Expressed in 214 organ(s), highest expression level in myocardium

CleanEx database of gene expression profiles

More...
CleanExi
HS_NEBL

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O76041 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O76041 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA013994
HPA013995

<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

Isoform 2 interacts with ZYX (Zyxin) (PubMed:15004028). Interacts (via nebulin repeats 1-5) with DESM (via rod region) (PubMed:27733623).2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115784, 32 interactors

Protein interaction database and analysis system

More...
IntActi
O76041, 34 interactors

Molecular INTeraction database

More...
MINTi
O76041

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000366326

<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

11014
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O76041

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

More...
SMRi
O76041

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 ‘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>Repeati29 – 63Nebulin 1Add BLAST35
Repeati64 – 99Nebulin 2Add BLAST36
Repeati100 – 136Nebulin 3Add BLAST37
Repeati137 – 172Nebulin 4Add BLAST36
Repeati173 – 205Nebulin 5Add BLAST33
Repeati206 – 241Nebulin 6Add BLAST36
Repeati242 – 278Nebulin 7Add BLAST37
Repeati279 – 313Nebulin 8Add BLAST35
Repeati314 – 348Nebulin 9Add BLAST35
Repeati349 – 385Nebulin 10Add BLAST37
Repeati386 – 422Nebulin 11Add BLAST37
Repeati423 – 459Nebulin 12Add BLAST37
Repeati460 – 496Nebulin 13Add BLAST37
Repeati497 – 533Nebulin 14Add BLAST37
Repeati534 – 569Nebulin 15Add BLAST36
Repeati570 – 599Nebulin 16Add BLAST30
Repeati600 – 635Nebulin 17Add BLAST36
Repeati636 – 666Nebulin 18Add BLAST31
Repeati667 – 693Nebulin 19Add BLAST27
Repeati694 – 728Nebulin 20Add BLAST35
Repeati729 – 759Nebulin 21Add BLAST31
Repeati760 – 794Nebulin 22Add BLAST35
Repeati795 – 830Nebulin 23Add BLAST36
<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>Domaini954 – 1014SH3PROSITE-ProRule annotationAdd BLAST61

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>Regioni836 – 953LinkerAdd BLAST118

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IP6T Eukaryota
ENOG410Y1M0 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156390

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000048710

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG054636

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O76041

Identification of Orthologs from Complete Genome Data

More...
OMAi
QTFTIVA

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0U2O

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O76041

TreeFam database of animal gene trees

More...
TreeFami
TF319104

Family and domain databases

Conserved Domains Database

More...
CDDi
cd11935 SH3_Nebulette_C, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035631 Nebulette_SH3
IPR000900 Nebulin_repeat
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00880 Nebulin, 15 hits
PF14604 SH3_9, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00452 SH3DOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00227 NEBU, 23 hits
SM00326 SH3, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50044 SSF50044, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51216 NEBULIN, 23 hits
PS50002 SH3, 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 (2+)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 2 <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 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O76041-1) [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
MRVPVFEDIK DETEEEKIGE EENEEDQVFY KPVIEDLSME LARKCTELIS
60 70 80 90 100
DIRYKEEFKK SKDKCTFVTD SPMLNHVKNI GAFISEAKYK GTIKADLSNS
110 120 130 140 150
LYKRMPATID SVFAGEVTQL QSEVAYKQKH DAAKGFSDYA HMKEPPEVKH
160 170 180 190 200
AMEVNKHQSN ISYRKDVQDT HTYSAELDRP DIKMATQISK IISNAEYKKG
210 220 230 240 250
QGIMNKEPAV IGRPDFEHAV EASKLSSQIK YKEKFDNEMK DKKHHYNPLE
260 270 280 290 300
SASFRQNQLA ATLASNVKYK KDIQNMHDPV SDLPNLLFLD HVLKASKMLS
310 320 330 340 350
GREYKKLFEE NKGMYHFDAD AVEHLHHKGN AVLQSQVKYK EEYEKNKGKP
360 370 380 390 400
MLEFVETPSY QASKEAQKMQ SEKVYKEDFE KEIKGRSSLD LDKTPEFLHV
410 420 430 440 450
KYITNLLREK EYKKDLENEI KGKGMELNSE VLDIQRAKRA SEMASEKEYK
460 470 480 490 500
KDLESIIKGK GMQAGTDTLE MQHAKKAAEI ASEKDYKRDL ETEIKGKGMQ
510 520 530 540 550
VSTDTLDVQR AKKASEMASQ KQYKKDLENE IKGKGMQVSM DIPDILRAKR
560 570 580 590 600
TSEIYSQRKY KDEAEKMLSN YSTIADTPEI QRIKTTQQNI SAVFYKKEVG
610 620 630 640 650
AGTAVKDSPE IERVKKNQQN ISSVKYKEEI KHATAISDPP ELKRVKENQK
660 670 680 690 700
NISNLQYKEQ NYKATPVSMT PEIERVRRNQ EQLSAVKYKG ELQRGTAISD
710 720 730 740 750
PPELKRAKEN QKNISNVYYR GQLGRATTLS VTPEMERVKK NQENISSVKY
760 770 780 790 800
TQDHKQMKGR PSLILDTPAM RHVKEAQNHI SMVKYHEDFE KTKGRGFTPV
810 820 830 840 850
VDDPVTERVR KNTQVVSDAA YKGVHPHIVE MDRRPGIIVD LKVWRTDPGS
860 870 880 890 900
IFDLDPLEDN IQSRSLHMLS EKASHYRRHW SRSHSSSTFG TGLGDDRSEI
910 920 930 940 950
SEIYPSFSCC SEVTRPSDEG APVLPGAYQQ SHSQGYGYMH QTSVSSMRSM
960 970 980 990 1000
QHSPNLRTYR AMYDYSAQDE DEVSFRDGDY IVNVQPIDDG WMYGTVQRTG
1010
RTGMLPANYI EFVN
Length:1,014
Mass (Da):116,453
Last modified:November 1, 1998 - 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:i81712E38BC6AC9E1
GO
Isoform 2 (identifier: O76041-2) [UniParc]FASTAAdd to basket
Also known as: LIM-nebulette, LNEBL

The sequence of this isoform differs from the canonical sequence as follows:
     1-664: Missing.
     665-782: TPVSMTPEIE...VKEAQNHISM → MNPQCARCGK...LKRTQEQISN
     840-920: Missing.

Note: Expressed in non-muscle cells. May be transcribed from an upstream promoter active in non-muscle cells.Combined sources
Show »
Length:270
Mass (Da):31,196
Checksum:iE3A31825D585FAA1
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JUU7Q5JUU7_HUMAN
Nebulette
NEBL
117Annotation 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>
A0A0U1RQY0A0A0U1RQY0_HUMAN
Nebulette
NEBL
115Annotation 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>
A0A0U1RRK0A0A0U1RRK0_HUMAN
Nebulette
NEBL
94Annotation 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>
A0A0U1RRI4A0A0U1RRI4_HUMAN
Nebulette
NEBL
63Annotation 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>

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 conflicti53 – 60RYKEEFKK → VIKKSLKS in AAF24858 (PubMed:10470015).Curated8
Sequence conflicti75N → T in AAF24858 (PubMed:10470015).Curated1
Sequence conflicti129 – 138KHDAAKGFSD → NMMLPRILS in AAF24858 (PubMed:10470015).Curated10
Sequence conflicti439 – 445RASEMAS → QPLKWQG in AAF24858 (PubMed:10470015).Curated7
Sequence conflicti706 – 726RAKEN…QLGRA → PKETRKTSACLLQSSAGES in AAF24858 (PubMed:10470015).CuratedAdd BLAST21
Sequence conflicti732T → I in AAF24858 (PubMed:10470015).Curated1
Sequence conflicti740K → E in AAF24858 (PubMed:10470015).Curated1
Sequence conflicti743E → G in AAF24858 (PubMed:10470015).Curated1
Sequence conflicti902 – 904EIY → RDL in AAF24858 (PubMed:10470015).Curated3

Natural variant

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_010289187Q → H1 PublicationCorresponds to variant dbSNP:rs75301590EnsemblClinVar.1
Natural variantiVAR_021887219A → D. Corresponds to variant dbSNP:rs2296610EnsemblClinVar.1
Natural variantiVAR_010290351M → V1 PublicationCorresponds to variant dbSNP:rs4025981EnsemblClinVar.1
Natural variantiVAR_051229378D → H. Corresponds to variant dbSNP:rs41277370EnsemblClinVar.1
Natural variantiVAR_010291654N → K Higher frequency of homozygotes in a cohort of non-familial cardiomyopathy Japanese patients as compared to healthy controls. 1 PublicationCorresponds to variant dbSNP:rs4748728EnsemblClinVar.1
Natural variantiVAR_010292728T → A1 PublicationCorresponds to variant dbSNP:rs71535732EnsemblClinVar.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_0438161 – 664Missing in isoform 2. 3 PublicationsAdd BLAST664
Alternative sequenceiVSP_043817665 – 782TPVSM…NHISM → MNPQCARCGKVVYPTEKVNC LDKYWHKGCFHCEVCKMALN MNNYKGYEKKPYCNAHYPKQ SFTTVADTPENLRLKQQSEL QSQVKYKRDFEESKGRGFSI VTDTPELQRLKRTQEQISN in isoform 2. 3 PublicationsAdd BLAST118
Alternative sequenceiVSP_043818840 – 920Missing in isoform 2. 3 PublicationsAdd BLAST81

Sequence databases

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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
Y16241 mRNA Translation: CAA76130.1
Y17673 mRNA Translation: CAA76810.1
AF047368 mRNA Translation: AAF24858.1
AJ580772 mRNA Translation: CAE45323.1
AK295186 mRNA Translation: BAG58190.1
EF445000 Genomic DNA Translation: ACA06022.1
EF445000 Genomic DNA Translation: ACA06023.1
EF445000 Genomic DNA Translation: ACA06024.1
EF445000 Genomic DNA Translation: ACA06026.1
AL359175 Genomic DNA No translation available.
AL731547 Genomic DNA No translation available.
AL157398 Genomic DNA No translation available.
AL158160 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW86175.1
BC110453 mRNA Translation: AAI10454.1
BC126132 mRNA Translation: AAI26133.1
BC126134 mRNA Translation: AAI26135.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7133.1 [O76041-2]
CCDS7134.1 [O76041-1]

NCBI Reference Sequences

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RefSeqi
NP_001166955.1, NM_001173484.1
NP_006384.1, NM_006393.2 [O76041-1]
NP_998734.1, NM_213569.2 [O76041-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.5025

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000377122; ENSP00000366326; ENSG00000078114 [O76041-1]
ENST00000417816; ENSP00000393896; ENSG00000078114 [O76041-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10529

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10529

UCSC genome browser

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UCSCi
uc001iqi.4 human [O76041-1]

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
Y16241 mRNA Translation: CAA76130.1
Y17673 mRNA Translation: CAA76810.1
AF047368 mRNA Translation: AAF24858.1
AJ580772 mRNA Translation: CAE45323.1
AK295186 mRNA Translation: BAG58190.1
EF445000 Genomic DNA Translation: ACA06022.1
EF445000 Genomic DNA Translation: ACA06023.1
EF445000 Genomic DNA Translation: ACA06024.1
EF445000 Genomic DNA Translation: ACA06026.1
AL359175 Genomic DNA No translation available.
AL731547 Genomic DNA No translation available.
AL157398 Genomic DNA No translation available.
AL158160 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW86175.1
BC110453 mRNA Translation: AAI10454.1
BC126132 mRNA Translation: AAI26133.1
BC126134 mRNA Translation: AAI26135.1
CCDSiCCDS7133.1 [O76041-2]
CCDS7134.1 [O76041-1]
RefSeqiNP_001166955.1, NM_001173484.1
NP_006384.1, NM_006393.2 [O76041-1]
NP_998734.1, NM_213569.2 [O76041-2]
UniGeneiHs.5025

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
4F14X-ray1.20A955-1014[»]
ProteinModelPortaliO76041
SMRiO76041
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115784, 32 interactors
IntActiO76041, 34 interactors
MINTiO76041
STRINGi9606.ENSP00000366326

PTM databases

iPTMnetiO76041
PhosphoSitePlusiO76041
SwissPalmiO76041

Polymorphism and mutation databases

BioMutaiNEBL

Proteomic databases

EPDiO76041
PaxDbiO76041
PeptideAtlasiO76041
PRIDEiO76041
ProteomicsDBi50360
50361 [O76041-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377122; ENSP00000366326; ENSG00000078114 [O76041-1]
ENST00000417816; ENSP00000393896; ENSG00000078114 [O76041-2]
GeneIDi10529
KEGGihsa:10529
UCSCiuc001iqi.4 human [O76041-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10529
DisGeNETi10529
EuPathDBiHostDB:ENSG00000078114.18

GeneCards: human genes, protein and diseases

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GeneCardsi
NEBL
HGNCiHGNC:16932 NEBL
HPAiHPA013994
HPA013995
MalaCardsiNEBL
MIMi605491 gene
neXtProtiNX_O76041
OpenTargetsiENSG00000078114
Orphaneti154 Familial isolated dilated cardiomyopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA134981177

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IP6T Eukaryota
ENOG410Y1M0 LUCA
GeneTreeiENSGT00940000156390
HOGENOMiHOG000048710
HOVERGENiHBG054636
InParanoidiO76041
OMAiQTFTIVA
OrthoDBiEOG091G0U2O
PhylomeDBiO76041
TreeFamiTF319104

Miscellaneous databases

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

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ChiTaRSi
NEBL human

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

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GenomeRNAii
10529

Protein Ontology

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PROi
PR:O76041

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000078114 Expressed in 214 organ(s), highest expression level in myocardium
CleanExiHS_NEBL
ExpressionAtlasiO76041 baseline and differential
GenevisibleiO76041 HS

Family and domain databases

CDDicd11935 SH3_Nebulette_C, 1 hit
InterProiView protein in InterPro
IPR035631 Nebulette_SH3
IPR000900 Nebulin_repeat
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00880 Nebulin, 15 hits
PF14604 SH3_9, 1 hit
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00227 NEBU, 23 hits
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS51216 NEBULIN, 23 hits
PS50002 SH3, 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 nameiNEBL_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: O76041
Secondary accession number(s): B0YJ45
, Q2TBD0, Q70I54, Q9UIC4
<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: February 21, 2001
Last sequence update: November 1, 1998
Last modified: December 5, 2018
This is version 161 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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