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O76041

- NEBL_HUMAN

UniProt

O76041 - NEBL_HUMAN

Protein

Nebulette

Gene

NEBL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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

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

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134981177.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10141014NebulettePRO_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

    1
    1014
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati29 – 6335Nebulin 1Add
    BLAST
    Repeati64 – 9936Nebulin 2Add
    BLAST
    Repeati100 – 13637Nebulin 3Add
    BLAST
    Repeati137 – 17236Nebulin 4Add
    BLAST
    Repeati173 – 20533Nebulin 5Add
    BLAST
    Repeati206 – 24136Nebulin 6Add
    BLAST
    Repeati242 – 27837Nebulin 7Add
    BLAST
    Repeati279 – 31335Nebulin 8Add
    BLAST
    Repeati314 – 34835Nebulin 9Add
    BLAST
    Repeati349 – 38537Nebulin 10Add
    BLAST
    Repeati386 – 42237Nebulin 11Add
    BLAST
    Repeati423 – 45937Nebulin 12Add
    BLAST
    Repeati460 – 49637Nebulin 13Add
    BLAST
    Repeati497 – 53337Nebulin 14Add
    BLAST
    Repeati534 – 56936Nebulin 15Add
    BLAST
    Repeati570 – 59930Nebulin 16Add
    BLAST
    Repeati600 – 63536Nebulin 17Add
    BLAST
    Repeati636 – 66631Nebulin 18Add
    BLAST
    Repeati667 – 69327Nebulin 19Add
    BLAST
    Repeati694 – 72835Nebulin 20Add
    BLAST
    Repeati729 – 75931Nebulin 21Add
    BLAST
    Repeati760 – 79435Nebulin 22Add
    BLAST
    Repeati795 – 83036Nebulin 23Add
    BLAST
    Domaini954 – 101461SH3PROSITE-ProRule annotationAdd
    BLAST

    Region

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

    Sequence similaritiesi

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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti53 – 608RYKEEFKK → VIKKSLKS in AAF24858. (PubMed:10470015)Curated
    Sequence conflicti75 – 751N → T in AAF24858. (PubMed:10470015)Curated
    Sequence conflicti129 – 13810KHDAAKGFSD → NMMLPRILS in AAF24858. (PubMed:10470015)Curated
    Sequence conflicti439 – 4457RASEMAS → QPLKWQG in AAF24858. (PubMed:10470015)Curated
    Sequence conflicti706 – 72621RAKEN…QLGRA → PKETRKTSACLLQSSAGES in AAF24858. (PubMed:10470015)CuratedAdd
    BLAST
    Sequence conflicti732 – 7321T → I in AAF24858. (PubMed:10470015)Curated
    Sequence conflicti740 – 7401K → E in AAF24858. (PubMed:10470015)Curated
    Sequence conflicti743 – 7431E → G in AAF24858. (PubMed:10470015)Curated
    Sequence conflicti902 – 9043EIY → RDL in AAF24858. (PubMed:10470015)Curated

    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. 3 PublicationsVSP_043816Add
    BLAST
    Alternative sequencei665 – 782118TPVSM…NHISM → MNPQCARCGKVVYPTEKVNC LDKYWHKGCFHCEVCKMALN MNNYKGYEKKPYCNAHYPKQ SFTTVADTPENLRLKQQSEL QSQVKYKRDFEESKGRGFSI VTDTPELQRLKRTQEQISN in isoform 2. 3 PublicationsVSP_043817Add
    BLAST
    Alternative sequencei840 – 92081Missing in isoform 2. 3 PublicationsVSP_043818Add
    BLAST

    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

    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: October 1, 2014
    This is version 123 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