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O76041

- NEBL_HUMAN

UniProt

O76041 - NEBL_HUMAN

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Protein

Nebulette

Gene

NEBL

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. structural constituent of muscle Source: UniProtKB
  5. 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. extracellular vesicular exosome Source: UniProt
  2. I band Source: UniProtKB
  3. stress fiber Source: UniProtKB
  4. Z disc 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 – 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

BgeeiO76041.
CleanExiHS_NEBL.
ExpressionAtlasiO76041. baseline and differential.
GenevestigatoriO76041.

Organism-specific databases

HPAiHPA013994.
HPA013995.

Interactioni

Subunit structurei

Isoform 2 interacts with ZYX (Zyxin).1 Publication

Protein-protein interaction databases

BioGridi115784. 8 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 – 9635Combined sources
Beta strandi980 – 9867Combined sources
Beta strandi988 – 9969Combined sources
Turni997 – 10004Combined sources
Beta strandi1001 – 10066Combined sources
Helixi1007 – 10093Combined sources
Beta strandi1010 – 10123Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00530000062924.
HOGENOMiHOG000048710.
HOVERGENiHBG006459.
InParanoidiO76041.
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

        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.

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:
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.3. human. [O76041-1]
uc001iqk.3. human. [O76041-2]

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 .
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:
PDBei
RCSB PDBi
PDBji
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. 8 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 GC10M021068.
HGNCi HGNC:16932. NEBL.
HPAi HPA013994.
HPA013995.
MIMi 605491. gene.
neXtProti NX_O76041.
PharmGKBi PA134981177.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG249897.
GeneTreei ENSGT00530000062924.
HOGENOMi HOG000048710.
HOVERGENi HBG006459.
InParanoidi O76041.
OMAi CCIIVER.
OrthoDBi EOG7GFB81.
PhylomeDBi O76041.
TreeFami TF319104.

Miscellaneous databases

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

Gene expression databases

Bgeei O76041.
CleanExi HS_NEBL.
ExpressionAtlasi O76041. baseline and differential.
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: November 26, 2014
This is version 125 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