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UniProtKB - P20929 (NEBU_HUMAN)

Protein

Nebulin

Gene

NEB

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

Functioni

This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.

GO - Molecular functioni

  • actin filament binding Source: GO_Central
  • structural constituent of muscle Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActin-binding, Muscle protein

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP20929

Names & Taxonomyi

Protein namesi
Recommended name:
Nebulin
Gene namesi
Name:NEB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000183091.19
HGNCiHGNC:7720 NEB
MIMi161650 gene
neXtProtiNX_P20929

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 2 (NEM2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination.
See also OMIM:256030

Keywords - Diseasei

Nemaline myopathy

Organism-specific databases

DisGeNETi4703
GeneReviewsiNEB
MalaCardsiNEB
MIMi256030 phenotype
OpenTargetsiENSG00000183091
Orphaneti171439 Childhood-onset nemaline myopathy
399103 Distal nebulin myopathy
171433 Intermediate nemaline myopathy
33108 Lethal multiple pterygium syndrome
171430 Severe congenital nemaline myopathy
171436 Typical nemaline myopathy
PharmGKBiPA31530

Polymorphism and mutation databases

BioMutaiNEB
DMDMi313104310

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000967751 – 6669NebulinAdd BLAST6669

Proteomic databases

PeptideAtlasiP20929
PRIDEiP20929
ProteomicsDBi53825

PTM databases

CarbonylDBiP20929
iPTMnetiP20929
PhosphoSitePlusiP20929

Expressioni

Tissue specificityi

Muscle specific. Located in the thin filament of striated muscle.

Gene expression databases

BgeeiENSG00000183091 Expressed in 139 organ(s), highest expression level in gluteal muscle
CleanExiHS_NEB
ExpressionAtlasiP20929 baseline and differential
GenevisibleiP20929 HS

Organism-specific databases

HPAiHPA016601

Interactioni

Subunit structurei

Monomer and homooligomer (PubMed:23615443). Interacts with TTN/titin (PubMed:12482578). Interacts with SVIL (PubMed:18639526). Interacts (via nebulin repeats 160-164) with DES (PubMed:23615443).3 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110783, 27 interactors
IntActiP20929, 25 interactors
MINTiP20929

Structurei

Secondary structure

16669
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP20929
SMRiP20929
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP20929

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati76 – 107Nebulin 1Add BLAST32
Repeati113 – 143Nebulin 2Add BLAST31
Repeati148 – 178Nebulin 3Add BLAST31
Repeati183 – 213Nebulin 4Add BLAST31
Repeati218 – 248Nebulin 5Add BLAST31
Repeati253 – 283Nebulin 6Add BLAST31
Repeati289 – 318Nebulin 7Add BLAST30
Repeati324 – 354Nebulin 8Add BLAST31
Repeati363 – 393Nebulin 9Add BLAST31
Repeati398 – 428Nebulin 10Add BLAST31
Repeati434 – 464Nebulin 11Add BLAST31
Repeati502 – 532Nebulin 12Add BLAST31
Repeati537 – 567Nebulin 13Add BLAST31
Repeati573 – 603Nebulin 14Add BLAST31
Repeati611 – 641Nebulin 15Add BLAST31
Repeati681 – 711Nebulin 16Add BLAST31
Repeati749 – 779Nebulin 17Add BLAST31
Repeati784 – 814Nebulin 18Add BLAST31
Repeati820 – 850Nebulin 19Add BLAST31
Repeati858 – 888Nebulin 20Add BLAST31
Repeati893 – 923Nebulin 21Add BLAST31
Repeati924 – 954Nebulin 22Add BLAST31
Repeati959 – 990Nebulin 23Add BLAST32
Repeati993 – 1023Nebulin 24Add BLAST31
Repeati1028 – 1058Nebulin 25Add BLAST31
Repeati1064 – 1094Nebulin 26Add BLAST31
Repeati1102 – 1132Nebulin 27Add BLAST31
Repeati1137 – 1167Nebulin 28Add BLAST31
Repeati1168 – 1198Nebulin 29Add BLAST31
Repeati1204 – 1234Nebulin 30Add BLAST31
Repeati1237 – 1267Nebulin 31Add BLAST31
Repeati1272 – 1302Nebulin 32Add BLAST31
Repeati1308 – 1338Nebulin 33Add BLAST31
Repeati1346 – 1376Nebulin 34Add BLAST31
Repeati1381 – 1411Nebulin 35Add BLAST31
Repeati1412 – 1442Nebulin 36Add BLAST31
Repeati1448 – 1478Nebulin 37Add BLAST31
Repeati1481 – 1511Nebulin 38Add BLAST31
Repeati1516 – 1546Nebulin 39Add BLAST31
Repeati1552 – 1582Nebulin 40Add BLAST31
Repeati1590 – 1620Nebulin 41Add BLAST31
Repeati1625 – 1655Nebulin 42Add BLAST31
Repeati1656 – 1686Nebulin 43Add BLAST31
Repeati1692 – 1722Nebulin 44Add BLAST31
Repeati1725 – 1755Nebulin 45Add BLAST31
Repeati1760 – 1790Nebulin 46Add BLAST31
Repeati1796 – 1826Nebulin 47Add BLAST31
Repeati1834 – 1864Nebulin 48Add BLAST31
Repeati1869 – 1899Nebulin 49Add BLAST31
Repeati1900 – 1930Nebulin 50Add BLAST31
Repeati1936 – 1966Nebulin 51Add BLAST31
Repeati1969 – 1999Nebulin 52Add BLAST31
Repeati2004 – 2034Nebulin 53Add BLAST31
Repeati2040 – 2070Nebulin 54Add BLAST31
Repeati2078 – 2108Nebulin 55Add BLAST31
Repeati2113 – 2143Nebulin 56Add BLAST31
Repeati2144 – 2174Nebulin 57Add BLAST31
Repeati2180 – 2210Nebulin 58Add BLAST31
Repeati2213 – 2243Nebulin 59Add BLAST31
Repeati2248 – 2278Nebulin 60Add BLAST31
Repeati2284 – 2314Nebulin 61Add BLAST31
Repeati2322 – 2352Nebulin 62Add BLAST31
Repeati2357 – 2387Nebulin 63Add BLAST31
Repeati2388 – 2418Nebulin 64Add BLAST31
Repeati2423 – 2453Nebulin 65Add BLAST31
Repeati2456 – 2486Nebulin 66Add BLAST31
Repeati2491 – 2521Nebulin 67Add BLAST31
Repeati2527 – 2557Nebulin 68Add BLAST31
Repeati2565 – 2595Nebulin 69Add BLAST31
Repeati2600 – 2630Nebulin 70Add BLAST31
Repeati2631 – 2661Nebulin 71Add BLAST31
Repeati2666 – 2696Nebulin 72Add BLAST31
Repeati2699 – 2729Nebulin 73Add BLAST31
Repeati2734 – 2764Nebulin 74Add BLAST31
Repeati2770 – 2800Nebulin 75Add BLAST31
Repeati2808 – 2838Nebulin 76Add BLAST31
Repeati2843 – 2873Nebulin 77Add BLAST31
Repeati2874 – 2904Nebulin 78Add BLAST31
Repeati2909 – 2939Nebulin 79Add BLAST31
Repeati2942 – 2972Nebulin 80Add BLAST31
Repeati2977 – 3007Nebulin 81Add BLAST31
Repeati3013 – 3043Nebulin 82Add BLAST31
Repeati3051 – 3081Nebulin 83Add BLAST31
Repeati3086 – 3116Nebulin 84Add BLAST31
Repeati3117 – 3147Nebulin 85Add BLAST31
Repeati3152 – 3182Nebulin 86Add BLAST31
Repeati3185 – 3215Nebulin 87Add BLAST31
Repeati3220 – 3250Nebulin 88Add BLAST31
Repeati3256 – 3286Nebulin 89Add BLAST31
Repeati3294 – 3324Nebulin 90Add BLAST31
Repeati3329 – 3359Nebulin 91Add BLAST31
Repeati3360 – 3390Nebulin 92Add BLAST31
Repeati3395 – 3425Nebulin 93Add BLAST31
Repeati3428 – 3458Nebulin 94Add BLAST31
Repeati3463 – 3493Nebulin 95Add BLAST31
Repeati3499 – 3529Nebulin 96Add BLAST31
Repeati3537 – 3567Nebulin 97Add BLAST31
Repeati3572 – 3602Nebulin 98Add BLAST31
Repeati3603 – 3633Nebulin 99Add BLAST31
Repeati3638 – 3668Nebulin 100Add BLAST31
Repeati3671 – 3701Nebulin 101Add BLAST31
Repeati3706 – 3736Nebulin 102Add BLAST31
Repeati3742 – 3772Nebulin 103Add BLAST31
Repeati3780 – 3810Nebulin 104Add BLAST31
Repeati3815 – 3845Nebulin 105Add BLAST31
Repeati3846 – 3876Nebulin 106Add BLAST31
Repeati3914 – 3944Nebulin 107Add BLAST31
Repeati3949 – 3979Nebulin 108Add BLAST31
Repeati3984 – 4014Nebulin 109Add BLAST31
Repeati4021 – 4052Nebulin 110Add BLAST32
Repeati4057 – 4087Nebulin 111Add BLAST31
Repeati4088 – 4118Nebulin 112Add BLAST31
Repeati4123 – 4153Nebulin 113Add BLAST31
Repeati4156 – 4186Nebulin 114Add BLAST31
Repeati4191 – 4220Nebulin 115Add BLAST30
Repeati4226 – 4256Nebulin 116Add BLAST31
Repeati4264 – 4294Nebulin 117Add BLAST31
Repeati4299 – 4329Nebulin 118Add BLAST31
Repeati4330 – 4360Nebulin 119Add BLAST31
Repeati4365 – 4395Nebulin 120Add BLAST31
Repeati4400 – 4430Nebulin 121Add BLAST31
Repeati4435 – 4465Nebulin 122Add BLAST31
Repeati4471 – 4501Nebulin 123Add BLAST31
Repeati4544 – 4574Nebulin 124Add BLAST31
Repeati4575 – 4605Nebulin 125Add BLAST31
Repeati4610 – 4640Nebulin 126Add BLAST31
Repeati4645 – 4675Nebulin 127Add BLAST31
Repeati4680 – 4710Nebulin 128Add BLAST31
Repeati4716 – 4746Nebulin 129Add BLAST31
Repeati4754 – 4784Nebulin 130Add BLAST31
Repeati4789 – 4819Nebulin 131Add BLAST31
Repeati4820 – 4850Nebulin 132Add BLAST31
Repeati4855 – 4885Nebulin 133Add BLAST31
Repeati4890 – 4920Nebulin 134Add BLAST31
Repeati4926 – 4956Nebulin 135Add BLAST31
Repeati4961 – 4991Nebulin 136Add BLAST31
Repeati4997 – 5027Nebulin 137Add BLAST31
Repeati5032 – 5062Nebulin 138Add BLAST31
Repeati5067 – 5097Nebulin 139Add BLAST31
Repeati5137 – 5167Nebulin 140Add BLAST31
Repeati5172 – 5202Nebulin 141Add BLAST31
Repeati5207 – 5237Nebulin 142Add BLAST31
Repeati5242 – 5272Nebulin 143Add BLAST31
Repeati5277 – 5307Nebulin 144Add BLAST31
Repeati5312 – 5342Nebulin 145Add BLAST31
Repeati5347 – 5377Nebulin 146Add BLAST31
Repeati5382 – 5412Nebulin 147Add BLAST31
Repeati5417 – 5447Nebulin 148Add BLAST31
Repeati5452 – 5482Nebulin 149Add BLAST31
Repeati5488 – 5518Nebulin 150Add BLAST31
Repeati5523 – 5553Nebulin 151Add BLAST31
Repeati5558 – 5588Nebulin 152Add BLAST31
Repeati5593 – 5623Nebulin 153Add BLAST31
Repeati5628 – 5658Nebulin 154Add BLAST31
Repeati5665 – 5695Nebulin 155Add BLAST31
Repeati5702 – 5732Nebulin 156Add BLAST31
Repeati5736 – 5766Nebulin 157Add BLAST31
Repeati5771 – 5801Nebulin 158Add BLAST31
Repeati5808 – 5838Nebulin 159Add BLAST31
Repeati5843 – 5873Nebulin 160Add BLAST31
Repeati5878 – 5908Nebulin 161Add BLAST31
Repeati5911 – 5943Nebulin 162Add BLAST33
Repeati5950 – 5980Nebulin 163Add BLAST31
Repeati5987 – 6017Nebulin 164Add BLAST31
Repeati6025 – 6055Nebulin 165Add BLAST31
Repeati6060 – 6090Nebulin 166Add BLAST31
Repeati6095 – 6125Nebulin 167Add BLAST31
Repeati6130 – 6160Nebulin 168Add BLAST31
Repeati6161 – 6191Nebulin 169Add BLAST31
Repeati6192 – 6222Nebulin 170Add BLAST31
Repeati6223 – 6253Nebulin 171Add BLAST31
Repeati6255 – 6284Nebulin 172Add BLAST30
Repeati6285 – 6315Nebulin 173Add BLAST31
Repeati6316 – 6346Nebulin 174Add BLAST31
Repeati6347 – 6377Nebulin 175Add BLAST31
Repeati6378 – 6408Nebulin 176Add BLAST31
Repeati6414 – 6444Nebulin 177Add BLAST31
Repeati6449 – 6479Nebulin 178Add BLAST31
Domaini6610 – 6669SH3PROSITE-ProRule annotationAdd BLAST60

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni6457 – 6612Interaction with SVIL1 PublicationAdd BLAST156

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

GeneTreeiENSGT00530000062924
HOGENOMiHOG000231776
HOVERGENiHBG045595
InParanoidiP20929
KOiK18267
TreeFamiTF319104

Family and domain databases

CDDicd11933 SH3_Nebulin_C, 1 hit
InterProiView protein in InterPro
IPR013998 Nebulin-like
IPR000900 Nebulin_repeat
IPR035629 Nebulin_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00880 Nebulin, 77 hits
PF14604 SH3_9, 1 hit
PRINTSiPR00510 NEBULIN
SMARTiView protein in SMART
SM00227 NEBU, 181 hits
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS51216 NEBULIN, 181 hits
PS50002 SH3, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P20929-1) [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
MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP 
        60         70         80         90        100
ALAQPALAQP ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK 
       110        120        130        140        150
YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV 
       160        170        180        190        200
DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA 
       210        220        230        240        250
MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ 
       260        270        280        290        300
AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA 
       310        320        330        340        350
RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE 
       360        370        380        390        400
DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN 
       410        420        430        440        450
YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT 
       460        470        480        490        500
AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT 
       510        520        530        540        550
KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK 
       560        570        580        590        600
VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD 
       610        620        630        640        650
YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC 
       660        670        680        690        700
ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN 
       710        720        730        740        750
SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT 
       760        770        780        790        800
AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA 
       810        820        830        840        850
YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK 
       860        870        880        890        900
SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML 
       910        920        930        940        950
QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA 
       960        970        980        990       1000
DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP 
      1010       1020       1030       1040       1050
ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN 
      1060       1070       1080       1090       1100
MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV 
      1110       1120       1130       1140       1150
GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK 
      1160       1170       1180       1190       1200
KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM 
      1210       1220       1230       1240       1250
KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK 
      1260       1270       1280       1290       1300
QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW 
      1310       1320       1330       1340       1350
YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ 
      1360       1370       1380       1390       1400
DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA 
      1410       1420       1430       1440       1450
TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI 
      1460       1470       1480       1490       1500
PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL 
      1510       1520       1530       1540       1550
SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK 
      1560       1570       1580       1590       1600
GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV 
      1610       1620       1630       1640       1650
HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR 
      1660       1670       1680       1690       1700
QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE 
      1710       1720       1730       1740       1750
VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT 
      1760       1770       1780       1790       1800
EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP 
      1810       1820       1830       1840       1850
DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA 
      1860       1870       1880       1890       1900
KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY 
      1910       1920       1930       1940       1950
NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK 
      1960       1970       1980       1990       2000
AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD 
      2010       2020       2030       2040       2050
KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK 
      2060       2070       2080       2090       2100
AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR 
      2110       2120       2130       2140       2150
EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA 
      2160       2170       2180       2190       2200
MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS 
      2210       2220       2230       2240       2250
DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV 
      2260       2270       2280       2290       2300
MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR 
      2310       2320       2330       2340       2350
DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF 
      2360       2370       2380       2390       2400
EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA 
      2410       2420       2430       2440       2450
KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP 
      2460       2470       2480       2490       2500
PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI 
      2510       2520       2530       2540       2550
VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK 
      2560       2570       2580       2590       2600
YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF 
      2610       2620       2630       2640       2650
SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ 
      2660       2670       2680       2690       2700
SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS 
      2710       2720       2730       2740       2750
SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK 
      2760       2770       2780       2790       2800
VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK 
      2810       2820       2830       2840       2850
QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML 
      2860       2870       2880       2890       2900
GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS 
      2910       2920       2930       2940       2950
DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE 
      2960       2970       2980       2990       3000
QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR QNKINYSETL 
      3010       3020       3030       3040       3050
YKLANEEAKK KGYDLRSDAI PIVAAKASRD VISDYKYKDG YRKQLGHHIG 
      3060       3070       3080       3090       3100
ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK 
      3110       3120       3130       3140       3150
CQTLVSDVDY KNYLHEWTCL PDQNDVIHAR QAYDLQSDNI YKSDLQWLRG 
      3160       3170       3180       3190       3200
IGWVPIGSMD VVKCKRAAEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN 
      3210       3220       3230       3240       3250
ALNMNKRLYT EAWDKDKTQV HIMPDTPEIM LARQNKINYS ESLYRQAMEE 
      3260       3270       3280       3290       3300
AKKEGYDLRS DAIPIVAAKA SRDIASDYKY KEAYRKQLGH HIGARAVHDD 
      3310       3320       3330       3340       3350
PKIMWSLHIA KVQSDREYKK DFEKYKTRYS SPVDMLGIVL AKKCQTLVSD 
      3360       3370       3380       3390       3400
VDYKHPLHEW ICLPDQNDII HARKAYDLQS DNLYKSDLEW MKGIGWVPID 
      3410       3420       3430       3440       3450
SLEVVRAKRA GELLSDTIYR QRPETLKFTS ITDTPEQVLA KNNALNMNKR 
      3460       3470       3480       3490       3500
LYTEAWDNDK KTIHVMPDTP EIMLAKLNRI NYSDKLYKLA LEESKKEGYD 
      3510       3520       3530       3540       3550
LRLDAIPIQA AKASRDIASD YKYKEGYRKQ LGHHIGARNI KDDPKMMWSI 
      3560       3570       3580       3590       3600
HVAKIQSDRE YKKEFEKWKT KFSSPVDMLG VVLAKKCQIL VSDIDYKHPL 
      3610       3620       3630       3640       3650
HEWTCLPDQN DVIQARKAYD LQSDAIYKSD LEWLRGIGWV PIGSVEVEKV 
      3660       3670       3680       3690       3700
KRAGEILSDR KYRQPADQLK FTCITDTPEI VLAKNNALTM SKHLYTEAWD 
      3710       3720       3730       3740       3750
ADKTSIHVMP DTPDILLAKS NSANISQKLY TKGWDESKMK DYDLRADAIS 
      3760       3770       3780       3790       3800
IKSAKASRDI ASDYKYKEAY EKQKGHHIGA QSIEDDPKIM CAIHAGKIQS 
      3810       3820       3830       3840       3850
EREYKKEFQK WKTKFSSPVD MLSILLAKKC QTLVTDIDYR NYLHEWTCMP 
      3860       3870       3880       3890       3900
DQNDIIQAKK AYDLQSDALY KADLEWLRGI GWMPQGSPEV LRVKNAQNIF 
      3910       3920       3930       3940       3950
CDSVYRTPVV NLKYTSIVDT PEVVLAKSNA ENISIPKYRE VWDKDKTSIH 
      3960       3970       3980       3990       4000
IMPDTPEINL ARANALNVSN KLYREGWDEM KAGCDVRLDA IPIQAAKASR 
      4010       4020       4030       4040       4050
EIASDYKYKL DHEKQKGHYV GTLTARDDNK IRWALIADKL QNEREYRLDW 
      4060       4070       4080       4090       4100
AKWKAKIQSP VDMLSILHSK NSQALVSDMD YRNYLHQWTC MPDQNDVIQA 
      4110       4120       4130       4140       4150
KKAYELQSDN VYKADLEWLR GIGWMPNDSV SVNHAKHAAD IFSEKKYRTK 
      4160       4170       4180       4190       4200
IETLNFTPVD DRVDYVTAKQ SGEILDDIKY RKDWNATKSK YTLTETPLLH 
      4210       4220       4230       4240       4250
TAQEAARILD QYLYKEGWER QKATGYILPP DAVPFVHAHH CNDVQSELKY 
      4260       4270       4280       4290       4300
KAEHVKQKGH YVGVPTMRDD PKLVWFEHAG QIQNERLYKE DYHKTKAKIN 
      4310       4320       4330       4340       4350
IPADMVSVLA AKQGQTLVSD IDYRNYLHQW MCHPDQNDVI QARKAYDLQS 
      4360       4370       4380       4390       4400
DNVYRADLEW LRGIGWIPLD SVDHVRVTKN QEMMSQIKYK KNALENYPNF 
      4410       4420       4430       4440       4450
RSVVDPPEIV LAKINSVNQS DVKYKETFNK AKGKYTFSPD TPHISHSKDM 
      4460       4470       4480       4490       4500
GKLYSTILYK GAWEGTKAYG YTLDERYIPI VGAKHADLVN SELKYKETYE 
      4510       4520       4530       4540       4550
KQKGHYLAGK VIGEFPGVVH CLDFQKMRSA LNYRKHYEDT KANVHIPNDM 
      4560       4570       4580       4590       4600
MNHVLAKRCQ YILSDLEYRH YFHQWTSLLE EPNVIRVRNA QEILSDNVYK 
      4610       4620       4630       4640       4650
DDLNWLKGIG CYVWDTPQIL HAKKSYDLQS QLQYTAAGKE NLQNYNLVTD 
      4660       4670       4680       4690       4700
TPLYVTAVQS GINASEVKYK ENYHQIKDKY TTVLETVDYD RTRNLKNLYS 
      4710       4720       4730       4740       4750
SNLYKEAWDR VKATSYILPS STLSLTHAKN QKHLASHIKY REEYEKFKAL 
      4760       4770       4780       4790       4800
YTLPRSVDDD PNTARCLRVG KLNIDRLYRS VYEKNKMKIH IVPDMVEMVT 
      4810       4820       4830       4840       4850
AKDSQKKVSE IDYRLRLHEW ICHPDLQVND HVRKVTDQIS DIVYKDDLNW 
      4860       4870       4880       4890       4900
LKGIGCYVWD TPEILHAKHA YDLRDDIKYK AHMLKTRNDY KLVTDTPVYV 
      4910       4920       4930       4940       4950
QAVKSGKQLS DAVYHYDYVH SVRGKVAPTT KTVDLDRALH AYKLQSSNLY 
      4960       4970       4980       4990       5000
KTSLRTLPTG YRLPGDTPHF KHIKDTRYMS SYFKYKEAYE HTKAYGYTLG 
      5010       5020       5030       5040       5050
PKDVPFVHVR RVNNVTSERL YRELYHKLKD KIHTTPDTPE IRQVKKTQEA 
      5060       5070       5080       5090       5100
VSELIYKSDF FKMQGHMISL PYTPQVIHCR YVGDITSDIK YKEDLQVLKG 
      5110       5120       5130       5140       5150
FGCFLYDTPD MVRSRHLRKL WSNYLYTDKA RKMRDKYKVV LDTPEYRKVQ 
      5160       5170       5180       5190       5200
ELKTHLSELV YRAAGKKQKS IFTSVPDTPD LLRAKRGQKL QSQYLYVELA 
      5210       5220       5230       5240       5250
TKERPHHHAG NQTTALKHAK DVKDMVSEKK YKIQYEKMKD KYTPVPDTPI 
      5260       5270       5280       5290       5300
LIRAKRAYWN ASDLRYKETF QKTKGKYHTV KDALDIVYHR KVTDDISKIK 
      5310       5320       5330       5340       5350
YKENYMSQLG IWRSIPDRPE HFHHRAVTDT VSDVKYKEDL TWLKGIGCYA 
      5360       5370       5380       5390       5400
YDTPDFTLAE KNKTLYSKYK YKEVFERTKS DFKYVADSPI NRHFKYATQL 
      5410       5420       5430       5440       5450
MNEKKYRADY EQRKDKYHLV VDEPRHLLAK TAGDQISQIK YRKNYEKSKD 
      5460       5470       5480       5490       5500
KFTSIVDTPE HLRTTKVNKQ ISDILYKLEY NKAKPRGYTT IHDTPMLLHV 
      5510       5520       5530       5540       5550
RKVKDEVSDL KYKEVYQRNK SNCTIEPDAV HIKAAKDAYK VNTNLDYKKQ 
      5560       5570       5580       5590       5600
YEANKAHWKW TPDRPDFLQA AKSSLQQSDF EYKLDREFLK GCKLSVTDDK 
      5610       5620       5630       5640       5650
NTVLALRNTL IESDLKYKEK HVKERGTCHA VPDTPQILLA KTVSNLVSEN 
      5660       5670       5680       5690       5700
KYKDHVKKHL AQGSYTTLPE TRDTVHVKEV TKHVSDTNYK KKFVKEKGKS 
      5710       5720       5730       5740       5750
NYSIMLEPPE VKHAMEVAKK QSDVAYRKDA KENLHYTTVA DRPDIKKATQ 
      5760       5770       5780       5790       5800
AAKQASEVEY RAKHRKEGSH GLSMLGRPDI EMAKKAAKLS SQVKYRENFD 
      5810       5820       5830       5840       5850
KEKGKTPKYN PKDSQLYKVM KDANNLASEV KYKADLKKLH KPVTDMKESL 
      5860       5870       5880       5890       5900
IMNHVLNTSQ LASSYQYKKK YEKSKGHYHT IPDNLEQLHL KEATELQSIV 
      5910       5920       5930       5940       5950
KYKEKYEKER GKPMLDFETP TYITAKESQQ MQSGKEYRKD YEESIKGRNL 
      5960       5970       5980       5990       6000
TGLEVTPALL HVKYATKIAS EKEYRKDLEE SIRGKGLTEM EDTPDMLRAK 
      6010       6020       6030       6040       6050
NATQILNEKE YKRDLELEVK GRGLNAMANE TPDFMRARNA TDIASQIKYK 
      6060       6070       6080       6090       6100
QSAEMEKANF TSVVDTPEII HAQQVKNLSS QKKYKEDAEK SMSYYETVLD 
      6110       6120       6130       6140       6150
TPEIQRVREN QKNFSLLQYQ CDLKNSKGKI TVVQDTPEIL RVKENQKNFS 
      6160       6170       6180       6190       6200
SVLYKEDVSP GTAIGKTPEM MRVKQTQDHI SSVKYKEAIG QGTPIPDLPE 
      6210       6220       6230       6240       6250
VKRVKETQKH ISSVMYKENL GTGIPTTVTP EIERVKRNQE NFSSVLYKEN 
      6260       6270       6280       6290       6300
LGKGIPTPIT PEMERVKRNQ ENFSSVLYKE NMGKGTPLAV TPEMERVKHN 
      6310       6320       6330       6340       6350
QENISSVLYK ENVGKATATP VTPEMQRVKR NQENISSVLY KENLGKATPT 
      6360       6370       6380       6390       6400
PFTPEMERVK RNQENFSSVL YKENMRKATP TPVTPEMERA KRNQENISSV 
      6410       6420       6430       6440       6450
LYSDSFRKQI QGKAAYVLDT PEMRRVRETQ RHISTVKYHE DFEKHKGCFT 
      6460       6470       6480       6490       6500
PVVTDPITER VKKNMQDFSD INYRGIQRKV VEMEQKRNDQ DQETITGLRV 
      6510       6520       6530       6540       6550
WRTNPGSVFD YDPAEDNIQS RSLHMINVQA QRRSREQSRS ASALSISGGE 
      6560       6570       6580       6590       6600
EKSEHSEAPD HHLSTYSDGG VFAVSTAYKH AKTTELPQQR SSSVATQQTT 
      6610       6620       6630       6640       6650
VSSIPSHPST AGKIFRAMYD YMAADADEVS FKDGDAIINV QAIDEGWMYG 
      6660 
TVQRTGRTGM LPANYVEAI
Length:6,669
Mass (Da):772,914
Last modified:May 14, 2014 - v5
Checksum:iAD93D9B6FB3D8161
GO
Isoform 2 (identifier: P20929-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2973-2973: D → DKTQIHIMPD...RLYTEAWDKD
     3854-3859: DIIQAK → DIIQAKKAYD...PDQNDVIQAR
     5404-5436: KKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQI → RKYKSSAKMFLQHGCNEILRPDMLTALYNSHMW
     6272-6273: NF → NFSSILYKEN...ERVKHNQENI

Show »
Length:8,525
Mass (Da):986,665
Checksum:iCB81263B60987A7B
GO
Isoform 3 (identifier: P20929-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2973-2973: D → DKTQIHIMPD...RLYTEAWDKD
     3854-3859: DIIQAK → DIIQAKKAYD...PDQNDVIQAR
     6272-6273: NF → NFSSILYKEN...ERVKHNQENI

Show »
Length:8,525
Mass (Da):986,680
Checksum:i338E8A78A6543B96
GO
Isoform 4 (identifier: P20929-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2959-2960: IT → LN

Show »
Length:6,669
Mass (Da):772,927
Checksum:iC1073801C04C3105
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X1N7A0A087X1N7_HUMAN
Nebulin
NEB
8,560Annotation score:
H0Y786H0Y786_HUMAN
Nebulin
NEB
3,007Annotation score:
H7BZD5H7BZD5_HUMAN
Nebulin
NEB
766Annotation score:
H0Y3P5H0Y3P5_HUMAN
Nebulin
NEB
659Annotation score:
H7C2D0H7C2D0_HUMAN
Nebulin
NEB
250Annotation score:
H7C2Z5H7C2Z5_HUMAN
Nebulin
NEB
401Annotation score:
H7C2B3H7C2B3_HUMAN
Nebulin
NEB
255Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti727E → D in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti781K → R in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti1290N → S in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti1305A → R in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti1389S → T in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti1549A → R in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti1939P → L in AAA59917 (PubMed:3397062).Curated1
Sequence conflicti2023M → I in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti2613K → Y in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti3796G → E in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti3838D → Y in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti5038T → P in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti5132K → E in CAA58788 (PubMed:7739042).Curated1
Sequence conflicti5432 – 5433AG → RS in CAA58788 (PubMed:7739042).Curated2
Sequence conflicti6289A → P in CAA58788 (PubMed:7739042).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047692146T → A. Corresponds to variant dbSNP:rs4077109Ensembl.1
Natural variantiVAR_047693191E → Q. Corresponds to variant dbSNP:rs35686968EnsemblClinVar.1
Natural variantiVAR_0476941027K → N1 PublicationCorresponds to variant dbSNP:rs6735208EnsemblClinVar.1
Natural variantiVAR_0476951301Y → H1 PublicationCorresponds to variant dbSNP:rs6711382Ensembl.1
Natural variantiVAR_0476961469E → D. Corresponds to variant dbSNP:rs34800215EnsemblClinVar.1
Natural variantiVAR_0476971479V → I. Corresponds to variant dbSNP:rs34577613EnsemblClinVar.1
Natural variantiVAR_0476981491V → M1 PublicationCorresponds to variant dbSNP:rs7426114EnsemblClinVar.1
Natural variantiVAR_0476991969Y → H. Corresponds to variant dbSNP:rs34532796EnsemblClinVar.1
Natural variantiVAR_0477002613K → N. Corresponds to variant dbSNP:rs13013209EnsemblClinVar.1
Natural variantiVAR_0477012773R → Q. Corresponds to variant dbSNP:rs35974308EnsemblClinVar.1
Natural variantiVAR_0477022912S → P. Corresponds to variant dbSNP:rs6713162EnsemblClinVar.1
Natural variantiVAR_0477032952V → G. Corresponds to variant dbSNP:rs13024542Ensembl.1
Natural variantiVAR_0477043360W → C1 PublicationCorresponds to variant dbSNP:rs10172023EnsemblClinVar.1
Natural variantiVAR_0477053887S → T. Corresponds to variant dbSNP:rs35227368EnsemblClinVar.1
Natural variantiVAR_0477064271P → L. Corresponds to variant dbSNP:rs4327235Ensembl.1
Natural variantiVAR_0477074337N → S. Corresponds to variant dbSNP:rs16830236EnsemblClinVar.1
Natural variantiVAR_0477084401R → T1 PublicationCorresponds to variant dbSNP:rs2288210EnsemblClinVar.1
Natural variantiVAR_0242405030D → V. Corresponds to variant dbSNP:rs2288200EnsemblClinVar.1
Natural variantiVAR_0477095463R → P. Corresponds to variant dbSNP:rs16830171Ensembl.1
Natural variantiVAR_0218885934G → E. Corresponds to variant dbSNP:rs3732309Ensembl.1
Natural variantiVAR_0569536131T → I. Corresponds to variant dbSNP:rs34368668EnsemblClinVar.1
Natural variantiVAR_0569546546I → V1 PublicationCorresponds to variant dbSNP:rs1061305EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0544442959 – 2960IT → LN in isoform 4. 1 Publication2
Alternative sequenceiVSP_0544452973D → DKTQIHIMPDTPEIMLARMN KINYSESLYKLANEEAKKKG YDLRSDAIPIVAAKASRDII SDYKYKDGYCKQLGHHIGAR NIEDDPKMMWSMHVAKIQSD REYKKDFEKWKTKFSSPVDM LGVVLAKKCQTLVSDVDYKN YLHEWTCLPDQSDVIHARQA YDLQSDNIYKSDLQWLRGIG WVPIGSMDVVKCKRATEILS DNIYRQPPDKLKFTSVTDSL EQVLAKNNALNMNKRLYTEA WDKD in isoform 2 and isoform 3. Curated1
Alternative sequenceiVSP_0544463854 – 3859DIIQAK → DIIQAKKAYDLQSDSVYKAD LEWLRGIGWMPEGSVEMNRV KVAQDLVNERLYRTRPEALS FTSIVDTPEVVLAKANSLQI SEKLYQEAWNKDKSNITIPS DTPEMLQAHINALQISNKLY QKDWNDAKQKGYDIRADAIE IKHAKASREIASEYKYKEGY RKQLGHHMGFRTLQDDPKSV WAIHAAKIQSDREYKKAYEK SKGIHNTPLDMMSIVQAKKC QVLVSDIDYRNYLHQWTCLP DQNDVIQAKKAYDLQSDNLY KSDLEWLKGIGWLPEGSVEV MRVKNAQNLLNERLYRIKPE ALKFTSIVDTPEVIQAKINA VQISEPLYRDAWEKEKANVN VPADTPLMLQSKINALQISN KRYQQAWEDVKMTGYDLRAD AIGIQHAKASRDIASDYLYK TAYEKQKGHYIGCRSAKEDP KLVWAANVLKMQNDRLYKKA YNDHKAKISIPVDMVSISAA KEGQALASDVDYRHYLHHWS CFPDQNDVIQARKAYDLQSD SVYKADLEWLRGIGWMPEGS VEMNRVKVAQDLVNERLYRT RPEALSFTSIVDTPEVVLAK ANSLQISEKLYQEAWNKDKS NITIPSDTPEMLQAHINALQ ISNKLYQKDWNDTKQKGYDI RADAIEIKHAKASREIASEY KYKEGYRKQLGHHMGFRTLQ DDPKSVWAIHAAKIQSDREY KKAYEKSKGIHNTPLDMMSI VQAKKCQVLVSDIDYRNYLH QWTCLPDQNDVIQAKKAYDL QSDNLYKSDLEWLKGIGWLP EGSVEVMRVKNAQNLLNERL YRIKPEALKFTSIVDTPEVI QAKINAVQISEPLYRNAWEK EKANVNVPADTPLMLQSKIN ALQISNKRYQQAWEDVKMTG YDLRADAIGIQHAKASRDIA SDYLYKTAYEKQKGHYIGCR SAKEDPKLVWAANVLKMQND RLYKKAYNDHKAKISIPVDM VSISAAKEGQALASDVDYRH YLHHWSCFPDQNDVIQARKA YDLQSDSVYKADLEWLRGIG WMPEGSVEMNRVKVAQDLVN ERLYRTRPEALSFTSIVDTP EVVLAKANSLQISEKLYQEA WNKDKSNITIPSDTPEMLQA HINALQISNKLYQKDWNDTK QKGYDIRADAIEIKHAKASR EIASEYKYKEGYRKQLGHHM GFRTLQDDPKSVWAIHAAKI QSDREYKKAYEKSKGIHNTP LDMMSIVQAKKCQVLVSDID YRNYLHQWTCLPDQNDVIQA KKAYDLQSDNLYKSDLEWLK GIGWLPEGSVEVMRVKNAQN LLNERLYRIKPEALKFTSIV DTPEVIQAKINAVQISEPLY RDAWEKEKANVNVPADTPLM LQSKINALQISNKRYQQAWE DVKMTGYDLRADAIGIQHAK ASRDIASDYLYKTAYEKQKG HYIGCRSAKEDPKLVWAANV LKMQNDRLYKKAYNDHKAKI SIPVDMVSISAAKEGQALAS DVDYRHYLHRWSCFPDQNDV IQAR in isoform 2 and isoform 3. Curated6
Alternative sequenceiVSP_0544475404 – 5436KKYRA…AGDQI → RKYKSSAKMFLQHGCNEILR PDMLTALYNSHMW in isoform 2. CuratedAdd BLAST33
Alternative sequenceiVSP_0544486272 – 6273NF → NFSSILYKENLSKGTPLPVT PEMERVKLNQENFSSVLYKE NVGKGIPIPITPEMERVKHN QENFSSVLYKENLGTGIPIP ITPEMQRVKHNQENLSSVLY KENMGKGTPLPVTPEMERVK HNQENISSVLYKENMGKGTP LPVTPEMERVKHNQENI in isoform 2 and isoform 3. Curated2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83957 mRNA Translation: CAA58788.1
AC009497 Genomic DNA Translation: AAY14651.1
AC107052 Genomic DNA Translation: AAY14977.1
AC116650 Genomic DNA No translation available.
M19669 mRNA Translation: AAA59917.1
CCDSiCCDS46424.1 [P20929-4]
CCDS54407.1 [P20929-2]
CCDS54408.1 [P20929-3]
PIRiA29979
B29979
S55024
RefSeqiNP_004534.2, NM_004543.4
UniGeneiHs.588655

Genome annotation databases

EnsembliENST00000172853; ENSP00000172853; ENSG00000183091 [P20929-1]
ENST00000397345; ENSP00000380505; ENSG00000183091 [P20929-2]
ENST00000409198; ENSP00000386259; ENSG00000183091 [P20929-4]
ENST00000427231; ENSP00000416578; ENSG00000183091 [P20929-3]
ENST00000603639; ENSP00000473894; ENSG00000183091 [P20929-2]
ENST00000604864; ENSP00000474498; ENSG00000183091 [P20929-3]
GeneIDi4703
KEGGihsa:4703
UCSCiuc002txu.3 human [P20929-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83957 mRNA Translation: CAA58788.1
AC009497 Genomic DNA Translation: AAY14651.1
AC107052 Genomic DNA Translation: AAY14977.1
AC116650 Genomic DNA No translation available.
M19669 mRNA Translation: AAA59917.1
CCDSiCCDS46424.1 [P20929-4]
CCDS54407.1 [P20929-2]
CCDS54408.1 [P20929-3]
PIRiA29979
B29979
S55024
RefSeqiNP_004534.2, NM_004543.4
UniGeneiHs.588655

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ARKNMR-A6610-6669[»]
1NEBNMR-A6610-6669[»]
ProteinModelPortaliP20929
SMRiP20929
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110783, 27 interactors
IntActiP20929, 25 interactors
MINTiP20929

PTM databases

CarbonylDBiP20929
iPTMnetiP20929
PhosphoSitePlusiP20929

Polymorphism and mutation databases

BioMutaiNEB
DMDMi313104310

Proteomic databases

PeptideAtlasiP20929
PRIDEiP20929
ProteomicsDBi53825

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000172853; ENSP00000172853; ENSG00000183091 [P20929-1]
ENST00000397345; ENSP00000380505; ENSG00000183091 [P20929-2]
ENST00000409198; ENSP00000386259; ENSG00000183091 [P20929-4]
ENST00000427231; ENSP00000416578; ENSG00000183091 [P20929-3]
ENST00000603639; ENSP00000473894; ENSG00000183091 [P20929-2]
ENST00000604864; ENSP00000474498; ENSG00000183091 [P20929-3]
GeneIDi4703
KEGGihsa:4703
UCSCiuc002txu.3 human [P20929-1]

Organism-specific databases

CTDi4703
DisGeNETi4703
EuPathDBiHostDB:ENSG00000183091.19
GeneCardsiNEB
GeneReviewsiNEB
HGNCiHGNC:7720 NEB
HPAiHPA016601
MalaCardsiNEB
MIMi161650 gene
256030 phenotype
neXtProtiNX_P20929
OpenTargetsiENSG00000183091
Orphaneti171439 Childhood-onset nemaline myopathy
399103 Distal nebulin myopathy
171433 Intermediate nemaline myopathy
33108 Lethal multiple pterygium syndrome
171430 Severe congenital nemaline myopathy
171436 Typical nemaline myopathy
PharmGKBiPA31530
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00530000062924
HOGENOMiHOG000231776
HOVERGENiHBG045595
InParanoidiP20929
KOiK18267
TreeFamiTF319104

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP20929

Miscellaneous databases

ChiTaRSiNEB human
EvolutionaryTraceiP20929
GenomeRNAii4703
PROiPR:P20929
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183091 Expressed in 139 organ(s), highest expression level in gluteal muscle
CleanExiHS_NEB
ExpressionAtlasiP20929 baseline and differential
GenevisibleiP20929 HS

Family and domain databases

CDDicd11933 SH3_Nebulin_C, 1 hit
InterProiView protein in InterPro
IPR013998 Nebulin-like
IPR000900 Nebulin_repeat
IPR035629 Nebulin_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00880 Nebulin, 77 hits
PF14604 SH3_9, 1 hit
PRINTSiPR00510 NEBULIN
SMARTiView protein in SMART
SM00227 NEBU, 181 hits
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS51216 NEBULIN, 181 hits
PS50002 SH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNEBU_HUMAN
AccessioniPrimary (citable) accession number: P20929
Secondary accession number(s): F8WCL5
, F8WCP0, Q15346, Q53QQ2, Q53TG8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: May 14, 2014
Last modified: November 7, 2018
This is version 180 of the entry and version 5 of the sequence. See 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 2
    Human chromosome 2: 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
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Main funding by: National Institutes of Health

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