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O76041

- NEBL_HUMAN

UniProt

O76041 - NEBL_HUMAN

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Protein
Nebulette
Gene
NEBL, LNEBL
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. actin filament binding Source: UniProtKB
  2. cytoskeletal protein binding Source: UniProtKB
  3. filamin binding Source: UniProtKB
  4. protein binding Source: UniProtKB
  5. structural constituent of muscle Source: UniProtKB
  6. tropomyosin binding Source: UniProtKB

GO - Biological processi

  1. cardiac muscle thin filament assembly Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Actin-binding

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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:16932. NEBL.

Subcellular locationi

Isoform 2 : Cytoplasm 1 Publication

GO - Cellular componenti

  1. I band Source: UniProtKB
  2. Z disc Source: UniProtKB
  3. extracellular vesicular exosome Source: UniProt
  4. stress fiber Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134981177.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10141014Nebulette
PRO_0000096774Add
BLAST

Proteomic databases

MaxQBiO76041.
PaxDbiO76041.
PRIDEiO76041.

PTM databases

PhosphoSiteiO76041.

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

ArrayExpressiO76041.
BgeeiO76041.
CleanExiHS_NEBL.
GenevestigatoriO76041.

Organism-specific databases

HPAiHPA013994.
HPA013995.

Interactioni

Subunit structurei

Isoform 2 interacts with ZYX (Zyxin).1 Publication

Protein-protein interaction databases

BioGridi115784. 3 interactions.
IntActiO76041. 6 interactions.
STRINGi9606.ENSP00000366326.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi959 – 9635
Beta strandi980 – 9867
Beta strandi988 – 9969
Turni997 – 10004
Beta strandi1001 – 10066
Helixi1007 – 10093
Beta strandi1010 – 10123

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4F14X-ray1.20A955-1014[»]
ProteinModelPortaliO76041.
SMRiO76041. Positions 958-1013.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati29 – 6335Nebulin 1
Add
BLAST
Repeati64 – 9936Nebulin 2
Add
BLAST
Repeati100 – 13637Nebulin 3
Add
BLAST
Repeati137 – 17236Nebulin 4
Add
BLAST
Repeati173 – 20533Nebulin 5
Add
BLAST
Repeati206 – 24136Nebulin 6
Add
BLAST
Repeati242 – 27837Nebulin 7
Add
BLAST
Repeati279 – 31335Nebulin 8
Add
BLAST
Repeati314 – 34835Nebulin 9
Add
BLAST
Repeati349 – 38537Nebulin 10
Add
BLAST
Repeati386 – 42237Nebulin 11
Add
BLAST
Repeati423 – 45937Nebulin 12
Add
BLAST
Repeati460 – 49637Nebulin 13
Add
BLAST
Repeati497 – 53337Nebulin 14
Add
BLAST
Repeati534 – 56936Nebulin 15
Add
BLAST
Repeati570 – 59930Nebulin 16
Add
BLAST
Repeati600 – 63536Nebulin 17
Add
BLAST
Repeati636 – 66631Nebulin 18
Add
BLAST
Repeati667 – 69327Nebulin 19
Add
BLAST
Repeati694 – 72835Nebulin 20
Add
BLAST
Repeati729 – 75931Nebulin 21
Add
BLAST
Repeati760 – 79435Nebulin 22
Add
BLAST
Repeati795 – 83036Nebulin 23
Add
BLAST
Domaini954 – 101461SH3
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni836 – 953118Linker
Add
BLAST

Sequence similaritiesi

Contains 23 nebulin repeats.
Contains 1 SH3 domain.

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiNOG249897.
HOGENOMiHOG000048710.
HOVERGENiHBG006459.
OMAiCCIIVER.
OrthoDBiEOG7GFB81.
PhylomeDBiO76041.
TreeFamiTF319104.

Family and domain databases

InterProiIPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00880. Nebulin. 14 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. Align

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

MRVPVFEDIK DETEEEKIGE EENEEDQVFY KPVIEDLSME LARKCTELIS     50
DIRYKEEFKK SKDKCTFVTD SPMLNHVKNI GAFISEAKYK GTIKADLSNS 100
LYKRMPATID SVFAGEVTQL QSEVAYKQKH DAAKGFSDYA HMKEPPEVKH 150
AMEVNKHQSN ISYRKDVQDT HTYSAELDRP DIKMATQISK IISNAEYKKG 200
QGIMNKEPAV IGRPDFEHAV EASKLSSQIK YKEKFDNEMK DKKHHYNPLE 250
SASFRQNQLA ATLASNVKYK KDIQNMHDPV SDLPNLLFLD HVLKASKMLS 300
GREYKKLFEE NKGMYHFDAD AVEHLHHKGN AVLQSQVKYK EEYEKNKGKP 350
MLEFVETPSY QASKEAQKMQ SEKVYKEDFE KEIKGRSSLD LDKTPEFLHV 400
KYITNLLREK EYKKDLENEI KGKGMELNSE VLDIQRAKRA SEMASEKEYK 450
KDLESIIKGK GMQAGTDTLE MQHAKKAAEI ASEKDYKRDL ETEIKGKGMQ 500
VSTDTLDVQR AKKASEMASQ KQYKKDLENE IKGKGMQVSM DIPDILRAKR 550
TSEIYSQRKY KDEAEKMLSN YSTIADTPEI QRIKTTQQNI SAVFYKKEVG 600
AGTAVKDSPE IERVKKNQQN ISSVKYKEEI KHATAISDPP ELKRVKENQK 650
NISNLQYKEQ NYKATPVSMT PEIERVRRNQ EQLSAVKYKG ELQRGTAISD 700
PPELKRAKEN QKNISNVYYR GQLGRATTLS VTPEMERVKK NQENISSVKY 750
TQDHKQMKGR PSLILDTPAM RHVKEAQNHI SMVKYHEDFE KTKGRGFTPV 800
VDDPVTERVR KNTQVVSDAA YKGVHPHIVE MDRRPGIIVD LKVWRTDPGS 850
IFDLDPLEDN IQSRSLHMLS EKASHYRRHW SRSHSSSTFG TGLGDDRSEI 900
SEIYPSFSCC SEVTRPSDEG APVLPGAYQQ SHSQGYGYMH QTSVSSMRSM 950
QHSPNLRTYR AMYDYSAQDE DEVSFRDGDY IVNVQPIDDG WMYGTVQRTG 1000
RTGMLPANYI EFVN 1014
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.

Show »
Length:270
Mass (Da):31,196
Checksum:iE3A31825D585FAA1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti187 – 1871Q → H.1 Publication
Corresponds to variant rs75301590 [ dbSNP | Ensembl ].
VAR_010289
Natural varianti219 – 2191A → D.
Corresponds to variant rs2296610 [ dbSNP | Ensembl ].
VAR_021887
Natural varianti351 – 3511M → V.1 Publication
Corresponds to variant rs4025981 [ dbSNP | Ensembl ].
VAR_010290
Natural varianti378 – 3781D → H.
Corresponds to variant rs41277370 [ dbSNP | Ensembl ].
VAR_051229
Natural varianti654 – 6541N → K Higher frequency of homozygotes in a cohort of non-familial cardiomyopathy Japanese patients as compared to healthy controls. 1 Publication
Corresponds to variant rs4748728 [ dbSNP | Ensembl ].
VAR_010291
Natural varianti728 – 7281T → A.1 Publication
VAR_010292

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 664664Missing in isoform 2.
VSP_043816Add
BLAST
Alternative sequencei665 – 782118TPVSM…NHISM → MNPQCARCGKVVYPTEKVNC LDKYWHKGCFHCEVCKMALN MNNYKGYEKKPYCNAHYPKQ SFTTVADTPENLRLKQQSEL QSQVKYKRDFEESKGRGFSI VTDTPELQRLKRTQEQISN in isoform 2.
VSP_043817Add
BLAST
Alternative sequencei840 – 92081Missing in isoform 2.
VSP_043818Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti53 – 608RYKEEFKK → VIKKSLKS in AAF24858. 1 Publication
Sequence conflicti75 – 751N → T in AAF24858. 1 Publication
Sequence conflicti129 – 13810KHDAAKGFSD → NMMLPRILS in AAF24858. 1 Publication
Sequence conflicti439 – 4457RASEMAS → QPLKWQG in AAF24858. 1 Publication
Sequence conflicti706 – 72621RAKEN…QLGRA → PKETRKTSACLLQSSAGES in AAF24858. 1 Publication
Add
BLAST
Sequence conflicti732 – 7321T → I in AAF24858. 1 Publication
Sequence conflicti740 – 7401K → E in AAF24858. 1 Publication
Sequence conflicti743 – 7431E → G in AAF24858. 1 Publication
Sequence conflicti902 – 9043EIY → RDL in AAF24858. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [O76041-1]
uc001iqk.3. human. [O76041-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS7133.1. [O76041-2 ]
CCDS7134.1. [O76041-1 ]
RefSeqi NP_001166955.1. NM_001173484.1.
NP_006384.1. NM_006393.2. [O76041-1 ]
NP_998734.1. NM_213569.2. [O76041-2 ]
UniGenei Hs.5025.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4F14 X-ray 1.20 A 955-1014 [» ]
ProteinModelPortali O76041.
SMRi O76041. Positions 958-1013.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115784. 3 interactions.
IntActi O76041. 6 interactions.
STRINGi 9606.ENSP00000366326.

PTM databases

PhosphoSitei O76041.

Proteomic databases

MaxQBi O76041.
PaxDbi O76041.
PRIDEi O76041.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377122 ; ENSP00000366326 ; ENSG00000078114 . [O76041-1 ]
ENST00000417816 ; ENSP00000393896 ; ENSG00000078114 . [O76041-2 ]
GeneIDi 10529.
KEGGi hsa:10529.
UCSCi uc001iqi.3. human. [O76041-1 ]
uc001iqk.3. human. [O76041-2 ]

Organism-specific databases

CTDi 10529.
GeneCardsi GC10M021110.
HGNCi HGNC:16932. NEBL.
HPAi HPA013994.
HPA013995.
MIMi 605491. gene.
neXtProti NX_O76041.
PharmGKBi PA134981177.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG249897.
HOGENOMi HOG000048710.
HOVERGENi HBG006459.
OMAi CCIIVER.
OrthoDBi EOG7GFB81.
PhylomeDBi O76041.
TreeFami TF319104.

Miscellaneous databases

ChiTaRSi NEBL. human.
GenomeRNAii 10529.
NextBioi 39946.
PROi O76041.
SOURCEi Search...

Gene expression databases

ArrayExpressi O76041.
Bgeei O76041.
CleanExi HS_NEBL.
Genevestigatori O76041.

Family and domain databases

InterProi IPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view ]
Pfami PF00880. Nebulin. 14 hits.
PF14604. SH3_9. 1 hit.
[Graphical view ]
PRINTSi PR00452. SH3DOMAIN.
SMARTi SM00227. NEBU. 23 hits.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
PROSITEi PS51216. NEBULIN. 23 hits.
PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

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: July 9, 2014
This is version 122 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

External Data

Dasty 3

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