Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Nebulette

Gene

NEBL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in the assembly of focal adhesion.1 Publication

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
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000078114-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Nebulette
Alternative name(s):
Actin-binding Z-disk protein
Gene namesi
Name:NEBL
Synonyms:LNEBL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:16932. NEBL.

Subcellular locationi

Isoform 2 :
  • Cytoplasm 1 Publication

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • I band Source: UniProtKB
  • stress fiber Source: UniProtKB
  • Z disc Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi10529.
OpenTargetsiENSG00000078114.
PharmGKBiPA134981177.

Polymorphism and mutation databases

BioMutaiNEBL.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000967741 – 1014NebuletteAdd BLAST1014

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei795Omega-N-methylarginineCombined sources1
Isoform 2 (identifier: O76041-2)
Modified residuei96Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation

Proteomic databases

EPDiO76041.
PaxDbiO76041.
PeptideAtlasiO76041.
PRIDEiO76041.

PTM databases

iPTMnetiO76041.
PhosphoSitePlusiO76041.
SwissPalmiO76041.

Expressioni

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

BgeeiENSG00000078114.
CleanExiHS_NEBL.
ExpressionAtlasiO76041. baseline and differential.
GenevisibleiO76041. HS.

Organism-specific databases

HPAiHPA013994.
HPA013995.

Interactioni

Subunit structurei

Isoform 2 interacts with ZYX (Zyxin).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
B2R8Y43EBI-2880203,EBI-10175581
FAM9BQ8IZU03EBI-2880203,EBI-10175124
FLJ13057Q53SE73EBI-2880203,EBI-10172181
GOLGA2Q083793EBI-2880203,EBI-618309
HOMER3B2RA103EBI-2880203,EBI-10175777
LZTS2Q9BRK43EBI-2880203,EBI-741037
MAD1L1Q9Y6D95EBI-2880203,EBI-742610
MIPOL1Q8TD103EBI-2880203,EBI-2548751
NUTM1Q86Y263EBI-2880203,EBI-10178410
TRAF1Q130773EBI-2880203,EBI-359224
TRAF2Q129335EBI-2880203,EBI-355744
TRIM27P143733EBI-2880203,EBI-719493

GO - Molecular functioni

  • actin filament binding Source: UniProtKB
  • cytoskeletal protein binding Source: UniProtKB
  • filamin binding Source: UniProtKB
  • tropomyosin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115784. 30 interactors.
IntActiO76041. 33 interactors.
STRINGi9606.ENSP00000366326.

Structurei

Secondary structure

11014
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi959 – 963Combined sources5
Beta strandi980 – 986Combined sources7
Beta strandi988 – 996Combined sources9
Turni997 – 1000Combined sources4
Beta strandi1001 – 1006Combined sources6
Helixi1007 – 1009Combined sources3
Beta strandi1010 – 1012Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4F14X-ray1.20A955-1014[»]
ProteinModelPortaliO76041.
SMRiO76041.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Domaini954 – 1014SH3PROSITE-ProRule annotationAdd BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni836 – 953LinkerAdd BLAST118

Sequence similaritiesi

Contains 23 nebulin repeats.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiENOG410IP6T. Eukaryota.
ENOG410Y1M0. LUCA.
GeneTreeiENSGT00530000062924.
HOGENOMiHOG000048710.
HOVERGENiHBG006459.
InParanoidiO76041.
OMAiRKAEMEQ.
OrthoDBiEOG091G0U2O.
PhylomeDBiO76041.
TreeFamiTF319104.

Family and domain databases

InterProiIPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00880. Nebulin. 15 hits.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00227. NEBU. 23 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS51216. NEBULIN. 23 hits.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_010289187Q → H.1 PublicationCorresponds to variant rs75301590dbSNPEnsembl.1
Natural variantiVAR_021887219A → D.Corresponds to variant rs2296610dbSNPEnsembl.1
Natural variantiVAR_010290351M → V.1 PublicationCorresponds to variant rs4025981dbSNPEnsembl.1
Natural variantiVAR_051229378D → H.Corresponds to variant rs41277370dbSNPEnsembl.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 rs4748728dbSNPEnsembl.1
Natural variantiVAR_010292728T → A.1 PublicationCorresponds to variant rs71535732dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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, AL157398, AL731547 Genomic DNA. Translation: CAH71371.1.
AL731547, AL157398, AL359175 Genomic DNA. Translation: CAI15775.1.
AL157398, AL359175, AL731547 Genomic DNA. Translation: CAI41189.1.
AL157398 Genomic DNA. Translation: CAC19642.1.
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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, AL157398, AL731547 Genomic DNA. Translation: CAH71371.1.
AL731547, AL157398, AL359175 Genomic DNA. Translation: CAI15775.1.
AL157398, AL359175, AL731547 Genomic DNA. Translation: CAI41189.1.
AL157398 Genomic DNA. Translation: CAC19642.1.
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:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4F14X-ray1.20A955-1014[»]
ProteinModelPortaliO76041.
SMRiO76041.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115784. 30 interactors.
IntActiO76041. 33 interactors.
STRINGi9606.ENSP00000366326.

PTM databases

iPTMnetiO76041.
PhosphoSitePlusiO76041.
SwissPalmiO76041.

Polymorphism and mutation databases

BioMutaiNEBL.

Proteomic databases

EPDiO76041.
PaxDbiO76041.
PeptideAtlasiO76041.
PRIDEiO76041.

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

CTDi10529.
DisGeNETi10529.
GeneCardsiNEBL.
HGNCiHGNC:16932. NEBL.
HPAiHPA013994.
HPA013995.
MIMi605491. gene.
neXtProtiNX_O76041.
OpenTargetsiENSG00000078114.
PharmGKBiPA134981177.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IP6T. Eukaryota.
ENOG410Y1M0. LUCA.
GeneTreeiENSGT00530000062924.
HOGENOMiHOG000048710.
HOVERGENiHBG006459.
InParanoidiO76041.
OMAiRKAEMEQ.
OrthoDBiEOG091G0U2O.
PhylomeDBiO76041.
TreeFamiTF319104.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000078114-MONOMER.

Miscellaneous databases

ChiTaRSiNEBL. human.
GenomeRNAii10529.
PROiO76041.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000078114.
CleanExiHS_NEBL.
ExpressionAtlasiO76041. baseline and differential.
GenevisibleiO76041. HS.

Family and domain databases

InterProiIPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00880. Nebulin. 15 hits.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00227. NEBU. 23 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS51216. NEBULIN. 23 hits.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNEBL_HUMAN
AccessioniPrimary (citable) accession number: O76041
Secondary accession number(s): B0YJ45
, Q2TBD0, Q70I54, Q9UIC4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1998
Last modified: November 30, 2016
This is version 144 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.