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O76041 (NEBL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nebulette
Alternative name(s):
Actin-binding Z-disk protein
Gene names
Name:NEBL
Synonyms:LNEBL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1014 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.3

Subunit structure

Isoform 2 interacts with ZYX (Zyxin). Ref.3

Subcellular location

Isoform 2: Cytoplasm Ref.3.

Tissue specificity

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.

Sequence similarities

Contains 23 nebulin repeats.

Contains 1 SH3 domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O76041-1)

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.
Isoform 2 (identifier: O76041-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10141014Nebulette
PRO_0000096774

Regions

Repeat29 – 6335Nebulin 1
Repeat64 – 9936Nebulin 2
Repeat100 – 13637Nebulin 3
Repeat137 – 17236Nebulin 4
Repeat173 – 20533Nebulin 5
Repeat206 – 24136Nebulin 6
Repeat242 – 27837Nebulin 7
Repeat279 – 31335Nebulin 8
Repeat314 – 34835Nebulin 9
Repeat349 – 38537Nebulin 10
Repeat386 – 42237Nebulin 11
Repeat423 – 45937Nebulin 12
Repeat460 – 49637Nebulin 13
Repeat497 – 53337Nebulin 14
Repeat534 – 56936Nebulin 15
Repeat570 – 59930Nebulin 16
Repeat600 – 63536Nebulin 17
Repeat636 – 66631Nebulin 18
Repeat667 – 69327Nebulin 19
Repeat694 – 72835Nebulin 20
Repeat729 – 75931Nebulin 21
Repeat760 – 79435Nebulin 22
Repeat795 – 83036Nebulin 23
Domain954 – 101461SH3
Region836 – 953118Linker

Natural variations

Alternative sequence1 – 664664Missing in isoform 2.
VSP_043816
Alternative sequence665 – 782118TPVSM…NHISM → MNPQCARCGKVVYPTEKVNC LDKYWHKGCFHCEVCKMALN MNNYKGYEKKPYCNAHYPKQ SFTTVADTPENLRLKQQSEL QSQVKYKRDFEESKGRGFSI VTDTPELQRLKRTQEQISN in isoform 2.
VSP_043817
Alternative sequence840 – 92081Missing in isoform 2.
VSP_043818
Natural variant1871Q → H. Ref.9
Corresponds to variant rs75301590 [ dbSNP | Ensembl ].
VAR_010289
Natural variant2191A → D.
Corresponds to variant rs2296610 [ dbSNP | Ensembl ].
VAR_021887
Natural variant3511M → V. Ref.9
Corresponds to variant rs4025981 [ dbSNP | Ensembl ].
VAR_010290
Natural variant3781D → H.
Corresponds to variant rs41277370 [ dbSNP | Ensembl ].
VAR_051229
Natural variant6541N → K Higher frequency of homozygotes in a cohort of non-familial cardiomyopathy Japanese patients as compared to healthy controls. Ref.9
Corresponds to variant rs4748728 [ dbSNP | Ensembl ].
VAR_010291
Natural variant7281T → A. Ref.9
VAR_010292

Experimental info

Sequence conflict53 – 608RYKEEFKK → VIKKSLKS in AAF24858. Ref.2
Sequence conflict751N → T in AAF24858. Ref.2
Sequence conflict129 – 13810KHDAAKGFSD → NMMLPRILS in AAF24858. Ref.2
Sequence conflict439 – 4457RASEMAS → QPLKWQG in AAF24858. Ref.2
Sequence conflict706 – 72621RAKEN…QLGRA → PKETRKTSACLLQSSAGES in AAF24858. Ref.2
Sequence conflict7321T → I in AAF24858. Ref.2
Sequence conflict7401K → E in AAF24858. Ref.2
Sequence conflict7431E → G in AAF24858. Ref.2
Sequence conflict902 – 9043EIY → RDL in AAF24858. Ref.2

Secondary structure

........... 1014
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: 81712E38BC6AC9E1

FASTA1,014116,453
        10         20         30         40         50         60 
MRVPVFEDIK DETEEEKIGE EENEEDQVFY KPVIEDLSME LARKCTELIS DIRYKEEFKK 

        70         80         90        100        110        120 
SKDKCTFVTD SPMLNHVKNI GAFISEAKYK GTIKADLSNS LYKRMPATID SVFAGEVTQL 

       130        140        150        160        170        180 
QSEVAYKQKH DAAKGFSDYA HMKEPPEVKH AMEVNKHQSN ISYRKDVQDT HTYSAELDRP 

       190        200        210        220        230        240 
DIKMATQISK IISNAEYKKG QGIMNKEPAV IGRPDFEHAV EASKLSSQIK YKEKFDNEMK 

       250        260        270        280        290        300 
DKKHHYNPLE SASFRQNQLA ATLASNVKYK KDIQNMHDPV SDLPNLLFLD HVLKASKMLS 

       310        320        330        340        350        360 
GREYKKLFEE NKGMYHFDAD AVEHLHHKGN AVLQSQVKYK EEYEKNKGKP MLEFVETPSY 

       370        380        390        400        410        420 
QASKEAQKMQ SEKVYKEDFE KEIKGRSSLD LDKTPEFLHV KYITNLLREK EYKKDLENEI 

       430        440        450        460        470        480 
KGKGMELNSE VLDIQRAKRA SEMASEKEYK KDLESIIKGK GMQAGTDTLE MQHAKKAAEI 

       490        500        510        520        530        540 
ASEKDYKRDL ETEIKGKGMQ VSTDTLDVQR AKKASEMASQ KQYKKDLENE IKGKGMQVSM 

       550        560        570        580        590        600 
DIPDILRAKR TSEIYSQRKY KDEAEKMLSN YSTIADTPEI QRIKTTQQNI SAVFYKKEVG 

       610        620        630        640        650        660 
AGTAVKDSPE IERVKKNQQN ISSVKYKEEI KHATAISDPP ELKRVKENQK NISNLQYKEQ 

       670        680        690        700        710        720 
NYKATPVSMT PEIERVRRNQ EQLSAVKYKG ELQRGTAISD PPELKRAKEN QKNISNVYYR 

       730        740        750        760        770        780 
GQLGRATTLS VTPEMERVKK NQENISSVKY TQDHKQMKGR PSLILDTPAM RHVKEAQNHI 

       790        800        810        820        830        840 
SMVKYHEDFE KTKGRGFTPV VDDPVTERVR KNTQVVSDAA YKGVHPHIVE MDRRPGIIVD 

       850        860        870        880        890        900 
LKVWRTDPGS IFDLDPLEDN IQSRSLHMLS EKASHYRRHW SRSHSSSTFG TGLGDDRSEI 

       910        920        930        940        950        960 
SEIYPSFSCC SEVTRPSDEG APVLPGAYQQ SHSQGYGYMH QTSVSSMRSM QHSPNLRTYR 

       970        980        990       1000       1010 
AMYDYSAQDE DEVSFRDGDY IVNVQPIDDG WMYGTVQRTG RTGMLPANYI EFVN 

« Hide

Isoform 2 (LIM-nebulette) (LNEBL) [UniParc].

Checksum: E3A31825D585FAA1
Show »

FASTA27031,196

References

« Hide 'large scale' references
[1]"Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs."
Millevoi S., Trombitas K., Kolmerer B., Kostin S., Schaper J., Pelin K., Granzier H., Labeit S.
J. Mol. Biol. 282:111-123(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Heart muscle.
[2]"Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains."
Moncman C.L., Wang K.
Cell Motil. Cytoskeleton 44:1-22(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Heart.
[3]"Zyxin interacts with the SH3 domains of the cytoskeletal proteins LIM-nebulette and Lasp-1."
Li B., Zhuang L., Trueb B.
J. Biol. Chem. 279:20401-20410(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, INTERACTION WITH ZYX, SUBCELLULAR LOCATION (ISOFORM 2).
Tissue: Placenta.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[5]NHLBI resequencing and genotyping service (RS&G)
Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
[9]"Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy."
Arimura T., Nakamura T., Hiroi S., Satoh M., Takahashi M., Ohbuchi N., Ueda K., Nouchi T., Yamaguchi N., Akai J., Matsumori A., Sasayama S., Kimura A.
Hum. Genet. 107:440-451(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-187; VAL-351; LYS-654 AND ALA-728.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS7133.1. [O76041-2]
CCDS7134.1. [O76041-1]
RefSeqNP_001166955.1. NM_001173484.1.
NP_006384.1. NM_006393.2. [O76041-1]
NP_998734.1. NM_213569.2. [O76041-2]
UniGeneHs.5025.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4F14X-ray1.20A955-1014[»]
ProteinModelPortalO76041.
SMRO76041. Positions 958-1013.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115784. 3 interactions.
IntActO76041. 6 interactions.
STRING9606.ENSP00000366326.

PTM databases

PhosphoSiteO76041.

Proteomic databases

MaxQBO76041.
PaxDbO76041.
PRIDEO76041.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377122; ENSP00000366326; ENSG00000078114. [O76041-1]
ENST00000417816; ENSP00000393896; ENSG00000078114. [O76041-2]
GeneID10529.
KEGGhsa:10529.
UCSCuc001iqi.3. human. [O76041-1]
uc001iqk.3. human. [O76041-2]

Organism-specific databases

CTD10529.
GeneCardsGC10M021110.
HGNCHGNC:16932. NEBL.
HPAHPA013994.
HPA013995.
MIM605491. gene.
neXtProtNX_O76041.
PharmGKBPA134981177.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG249897.
HOGENOMHOG000048710.
HOVERGENHBG006459.
OMACCIIVER.
OrthoDBEOG7GFB81.
PhylomeDBO76041.
TreeFamTF319104.

Gene expression databases

ArrayExpressO76041.
BgeeO76041.
CleanExHS_NEBL.
GenevestigatorO76041.

Family and domain databases

InterProIPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view]
PfamPF00880. Nebulin. 14 hits.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSPR00452. SH3DOMAIN.
SMARTSM00227. NEBU. 23 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS51216. NEBULIN. 23 hits.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNEBL. human.
GenomeRNAi10529.
NextBio39946.
PROO76041.
SOURCESearch...

Entry information

Entry nameNEBL_HUMAN
AccessionPrimary (citable) accession number: O76041
Secondary accession number(s): B0YJ45 expand/collapse secondary AC list , Q2TBD0, Q70I54, Q9UIC4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1998
Last modified: July 9, 2014
This is version 122 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM