UniProtKB - P20929 (NEBU_HUMAN)
Nebulin
NEB
Functioni
GO - Molecular functioni
- actin filament binding Source: GO_Central
- structural constituent of muscle Source: ProtInc
GO - Biological processi
- cardiac muscle thin filament assembly Source: GO_Central
- muscle fiber development Source: GO_Central
- muscle filament sliding Source: Reactome
- muscle organ development Source: ProtInc
- regulation of actin filament length Source: UniProtKB
- somatic muscle development Source: UniProtKB
Keywordsi
Molecular function | Actin-binding, Muscle protein |
Enzyme and pathway databases
PathwayCommonsi | P20929 |
Reactomei | R-HSA-390522, Striated Muscle Contraction |
SIGNORi | P20929 |
Names & Taxonomyi
Protein namesi | Recommended name: Nebulin |
Gene namesi | Name:NEB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000183091.19 |
HGNCi | HGNC:7720, NEB |
MIMi | 161650, gene |
neXtProti | NX_P20929 |
Subcellular locationi
Cytoskeleton
Other locations
Cytoskeleton
- actin cytoskeleton Source: ProtInc
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Other locations
- Z disc Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Nemaline myopathy 2 (NEM2)1 Publication
Keywords - Diseasei
Nemaline myopathyOrganism-specific databases
DisGeNETi | 4703 |
GeneReviewsi | NEB |
MalaCardsi | NEB |
MIMi | 256030, phenotype |
OpenTargetsi | ENSG00000183091 |
Orphaneti | 171439, 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 |
PharmGKBi | PA31530 |
Miscellaneous databases
Pharosi | P20929, Tbio |
Polymorphism and mutation databases
BioMutai | NEB |
DMDMi | 313104310 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000096775 | 1 – 6669 | NebulinAdd BLAST | 6669 |
Proteomic databases
jPOSTi | P20929 |
MassIVEi | P20929 |
PeptideAtlasi | P20929 |
PRIDEi | P20929 |
ProteomicsDBi | 31194 31219 53825 [P20929-1] |
PTM databases
CarbonylDBi | P20929 |
iPTMneti | P20929 |
PhosphoSitePlusi | P20929 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000183091, Expressed in deltoid and 156 other tissues |
ExpressionAtlasi | P20929, baseline and differential |
Genevisiblei | P20929, HS |
Organism-specific databases
HPAi | ENSG00000183091, Tissue enriched (skeletal) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsP20929
Isoform 4 [P20929-4]
With | #Exp. | IntAct |
---|---|---|
KLHL41 [O60662] | 5 | EBI-9531519,EBI-5353084 |
GO - Molecular functioni
- actin filament binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 110783, 29 interactors |
IntActi | P20929, 35 interactors |
MINTi | P20929 |
Miscellaneous databases
RNActi | P20929, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P20929 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P20929 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 76 – 107 | Nebulin 1Add BLAST | 32 | |
Repeati | 113 – 143 | Nebulin 2Add BLAST | 31 | |
Repeati | 148 – 178 | Nebulin 3Add BLAST | 31 | |
Repeati | 183 – 213 | Nebulin 4Add BLAST | 31 | |
Repeati | 218 – 248 | Nebulin 5Add BLAST | 31 | |
Repeati | 253 – 283 | Nebulin 6Add BLAST | 31 | |
Repeati | 289 – 318 | Nebulin 7Add BLAST | 30 | |
Repeati | 324 – 354 | Nebulin 8Add BLAST | 31 | |
Repeati | 363 – 393 | Nebulin 9Add BLAST | 31 | |
Repeati | 398 – 428 | Nebulin 10Add BLAST | 31 | |
Repeati | 434 – 464 | Nebulin 11Add BLAST | 31 | |
Repeati | 502 – 532 | Nebulin 12Add BLAST | 31 | |
Repeati | 537 – 567 | Nebulin 13Add BLAST | 31 | |
Repeati | 573 – 603 | Nebulin 14Add BLAST | 31 | |
Repeati | 611 – 641 | Nebulin 15Add BLAST | 31 | |
Repeati | 681 – 711 | Nebulin 16Add BLAST | 31 | |
Repeati | 749 – 779 | Nebulin 17Add BLAST | 31 | |
Repeati | 784 – 814 | Nebulin 18Add BLAST | 31 | |
Repeati | 820 – 850 | Nebulin 19Add BLAST | 31 | |
Repeati | 858 – 888 | Nebulin 20Add BLAST | 31 | |
Repeati | 893 – 923 | Nebulin 21Add BLAST | 31 | |
Repeati | 924 – 954 | Nebulin 22Add BLAST | 31 | |
Repeati | 959 – 990 | Nebulin 23Add BLAST | 32 | |
Repeati | 993 – 1023 | Nebulin 24Add BLAST | 31 | |
Repeati | 1028 – 1058 | Nebulin 25Add BLAST | 31 | |
Repeati | 1064 – 1094 | Nebulin 26Add BLAST | 31 | |
Repeati | 1102 – 1132 | Nebulin 27Add BLAST | 31 | |
Repeati | 1137 – 1167 | Nebulin 28Add BLAST | 31 | |
Repeati | 1168 – 1198 | Nebulin 29Add BLAST | 31 | |
Repeati | 1204 – 1234 | Nebulin 30Add BLAST | 31 | |
Repeati | 1237 – 1267 | Nebulin 31Add BLAST | 31 | |
Repeati | 1272 – 1302 | Nebulin 32Add BLAST | 31 | |
Repeati | 1308 – 1338 | Nebulin 33Add BLAST | 31 | |
Repeati | 1346 – 1376 | Nebulin 34Add BLAST | 31 | |
Repeati | 1381 – 1411 | Nebulin 35Add BLAST | 31 | |
Repeati | 1412 – 1442 | Nebulin 36Add BLAST | 31 | |
Repeati | 1448 – 1478 | Nebulin 37Add BLAST | 31 | |
Repeati | 1481 – 1511 | Nebulin 38Add BLAST | 31 | |
Repeati | 1516 – 1546 | Nebulin 39Add BLAST | 31 | |
Repeati | 1552 – 1582 | Nebulin 40Add BLAST | 31 | |
Repeati | 1590 – 1620 | Nebulin 41Add BLAST | 31 | |
Repeati | 1625 – 1655 | Nebulin 42Add BLAST | 31 | |
Repeati | 1656 – 1686 | Nebulin 43Add BLAST | 31 | |
Repeati | 1692 – 1722 | Nebulin 44Add BLAST | 31 | |
Repeati | 1725 – 1755 | Nebulin 45Add BLAST | 31 | |
Repeati | 1760 – 1790 | Nebulin 46Add BLAST | 31 | |
Repeati | 1796 – 1826 | Nebulin 47Add BLAST | 31 | |
Repeati | 1834 – 1864 | Nebulin 48Add BLAST | 31 | |
Repeati | 1869 – 1899 | Nebulin 49Add BLAST | 31 | |
Repeati | 1900 – 1930 | Nebulin 50Add BLAST | 31 | |
Repeati | 1936 – 1966 | Nebulin 51Add BLAST | 31 | |
Repeati | 1969 – 1999 | Nebulin 52Add BLAST | 31 | |
Repeati | 2004 – 2034 | Nebulin 53Add BLAST | 31 | |
Repeati | 2040 – 2070 | Nebulin 54Add BLAST | 31 | |
Repeati | 2078 – 2108 | Nebulin 55Add BLAST | 31 | |
Repeati | 2113 – 2143 | Nebulin 56Add BLAST | 31 | |
Repeati | 2144 – 2174 | Nebulin 57Add BLAST | 31 | |
Repeati | 2180 – 2210 | Nebulin 58Add BLAST | 31 | |
Repeati | 2213 – 2243 | Nebulin 59Add BLAST | 31 | |
Repeati | 2248 – 2278 | Nebulin 60Add BLAST | 31 | |
Repeati | 2284 – 2314 | Nebulin 61Add BLAST | 31 | |
Repeati | 2322 – 2352 | Nebulin 62Add BLAST | 31 | |
Repeati | 2357 – 2387 | Nebulin 63Add BLAST | 31 | |
Repeati | 2388 – 2418 | Nebulin 64Add BLAST | 31 | |
Repeati | 2423 – 2453 | Nebulin 65Add BLAST | 31 | |
Repeati | 2456 – 2486 | Nebulin 66Add BLAST | 31 | |
Repeati | 2491 – 2521 | Nebulin 67Add BLAST | 31 | |
Repeati | 2527 – 2557 | Nebulin 68Add BLAST | 31 | |
Repeati | 2565 – 2595 | Nebulin 69Add BLAST | 31 | |
Repeati | 2600 – 2630 | Nebulin 70Add BLAST | 31 | |
Repeati | 2631 – 2661 | Nebulin 71Add BLAST | 31 | |
Repeati | 2666 – 2696 | Nebulin 72Add BLAST | 31 | |
Repeati | 2699 – 2729 | Nebulin 73Add BLAST | 31 | |
Repeati | 2734 – 2764 | Nebulin 74Add BLAST | 31 | |
Repeati | 2770 – 2800 | Nebulin 75Add BLAST | 31 | |
Repeati | 2808 – 2838 | Nebulin 76Add BLAST | 31 | |
Repeati | 2843 – 2873 | Nebulin 77Add BLAST | 31 | |
Repeati | 2874 – 2904 | Nebulin 78Add BLAST | 31 | |
Repeati | 2909 – 2939 | Nebulin 79Add BLAST | 31 | |
Repeati | 2942 – 2972 | Nebulin 80Add BLAST | 31 | |
Repeati | 2977 – 3007 | Nebulin 81Add BLAST | 31 | |
Repeati | 3013 – 3043 | Nebulin 82Add BLAST | 31 | |
Repeati | 3051 – 3081 | Nebulin 83Add BLAST | 31 | |
Repeati | 3086 – 3116 | Nebulin 84Add BLAST | 31 | |
Repeati | 3117 – 3147 | Nebulin 85Add BLAST | 31 | |
Repeati | 3152 – 3182 | Nebulin 86Add BLAST | 31 | |
Repeati | 3185 – 3215 | Nebulin 87Add BLAST | 31 | |
Repeati | 3220 – 3250 | Nebulin 88Add BLAST | 31 | |
Repeati | 3256 – 3286 | Nebulin 89Add BLAST | 31 | |
Repeati | 3294 – 3324 | Nebulin 90Add BLAST | 31 | |
Repeati | 3329 – 3359 | Nebulin 91Add BLAST | 31 | |
Repeati | 3360 – 3390 | Nebulin 92Add BLAST | 31 | |
Repeati | 3395 – 3425 | Nebulin 93Add BLAST | 31 | |
Repeati | 3428 – 3458 | Nebulin 94Add BLAST | 31 | |
Repeati | 3463 – 3493 | Nebulin 95Add BLAST | 31 | |
Repeati | 3499 – 3529 | Nebulin 96Add BLAST | 31 | |
Repeati | 3537 – 3567 | Nebulin 97Add BLAST | 31 | |
Repeati | 3572 – 3602 | Nebulin 98Add BLAST | 31 | |
Repeati | 3603 – 3633 | Nebulin 99Add BLAST | 31 | |
Repeati | 3638 – 3668 | Nebulin 100Add BLAST | 31 | |
Repeati | 3671 – 3701 | Nebulin 101Add BLAST | 31 | |
Repeati | 3706 – 3736 | Nebulin 102Add BLAST | 31 | |
Repeati | 3742 – 3772 | Nebulin 103Add BLAST | 31 | |
Repeati | 3780 – 3810 | Nebulin 104Add BLAST | 31 | |
Repeati | 3815 – 3845 | Nebulin 105Add BLAST | 31 | |
Repeati | 3846 – 3876 | Nebulin 106Add BLAST | 31 | |
Repeati | 3914 – 3944 | Nebulin 107Add BLAST | 31 | |
Repeati | 3949 – 3979 | Nebulin 108Add BLAST | 31 | |
Repeati | 3984 – 4014 | Nebulin 109Add BLAST | 31 | |
Repeati | 4021 – 4052 | Nebulin 110Add BLAST | 32 | |
Repeati | 4057 – 4087 | Nebulin 111Add BLAST | 31 | |
Repeati | 4088 – 4118 | Nebulin 112Add BLAST | 31 | |
Repeati | 4123 – 4153 | Nebulin 113Add BLAST | 31 | |
Repeati | 4156 – 4186 | Nebulin 114Add BLAST | 31 | |
Repeati | 4191 – 4220 | Nebulin 115Add BLAST | 30 | |
Repeati | 4226 – 4256 | Nebulin 116Add BLAST | 31 | |
Repeati | 4264 – 4294 | Nebulin 117Add BLAST | 31 | |
Repeati | 4299 – 4329 | Nebulin 118Add BLAST | 31 | |
Repeati | 4330 – 4360 | Nebulin 119Add BLAST | 31 | |
Repeati | 4365 – 4395 | Nebulin 120Add BLAST | 31 | |
Repeati | 4400 – 4430 | Nebulin 121Add BLAST | 31 | |
Repeati | 4435 – 4465 | Nebulin 122Add BLAST | 31 | |
Repeati | 4471 – 4501 | Nebulin 123Add BLAST | 31 | |
Repeati | 4544 – 4574 | Nebulin 124Add BLAST | 31 | |
Repeati | 4575 – 4605 | Nebulin 125Add BLAST | 31 | |
Repeati | 4610 – 4640 | Nebulin 126Add BLAST | 31 | |
Repeati | 4645 – 4675 | Nebulin 127Add BLAST | 31 | |
Repeati | 4680 – 4710 | Nebulin 128Add BLAST | 31 | |
Repeati | 4716 – 4746 | Nebulin 129Add BLAST | 31 | |
Repeati | 4754 – 4784 | Nebulin 130Add BLAST | 31 | |
Repeati | 4789 – 4819 | Nebulin 131Add BLAST | 31 | |
Repeati | 4820 – 4850 | Nebulin 132Add BLAST | 31 | |
Repeati | 4855 – 4885 | Nebulin 133Add BLAST | 31 | |
Repeati | 4890 – 4920 | Nebulin 134Add BLAST | 31 | |
Repeati | 4926 – 4956 | Nebulin 135Add BLAST | 31 | |
Repeati | 4961 – 4991 | Nebulin 136Add BLAST | 31 | |
Repeati | 4997 – 5027 | Nebulin 137Add BLAST | 31 | |
Repeati | 5032 – 5062 | Nebulin 138Add BLAST | 31 | |
Repeati | 5067 – 5097 | Nebulin 139Add BLAST | 31 | |
Repeati | 5137 – 5167 | Nebulin 140Add BLAST | 31 | |
Repeati | 5172 – 5202 | Nebulin 141Add BLAST | 31 | |
Repeati | 5207 – 5237 | Nebulin 142Add BLAST | 31 | |
Repeati | 5242 – 5272 | Nebulin 143Add BLAST | 31 | |
Repeati | 5277 – 5307 | Nebulin 144Add BLAST | 31 | |
Repeati | 5312 – 5342 | Nebulin 145Add BLAST | 31 | |
Repeati | 5347 – 5377 | Nebulin 146Add BLAST | 31 | |
Repeati | 5382 – 5412 | Nebulin 147Add BLAST | 31 | |
Repeati | 5417 – 5447 | Nebulin 148Add BLAST | 31 | |
Repeati | 5452 – 5482 | Nebulin 149Add BLAST | 31 | |
Repeati | 5488 – 5518 | Nebulin 150Add BLAST | 31 | |
Repeati | 5523 – 5553 | Nebulin 151Add BLAST | 31 | |
Repeati | 5558 – 5588 | Nebulin 152Add BLAST | 31 | |
Repeati | 5593 – 5623 | Nebulin 153Add BLAST | 31 | |
Repeati | 5628 – 5658 | Nebulin 154Add BLAST | 31 | |
Repeati | 5665 – 5695 | Nebulin 155Add BLAST | 31 | |
Repeati | 5702 – 5732 | Nebulin 156Add BLAST | 31 | |
Repeati | 5736 – 5766 | Nebulin 157Add BLAST | 31 | |
Repeati | 5771 – 5801 | Nebulin 158Add BLAST | 31 | |
Repeati | 5808 – 5838 | Nebulin 159Add BLAST | 31 | |
Repeati | 5843 – 5873 | Nebulin 160Add BLAST | 31 | |
Repeati | 5878 – 5908 | Nebulin 161Add BLAST | 31 | |
Repeati | 5911 – 5943 | Nebulin 162Add BLAST | 33 | |
Repeati | 5950 – 5980 | Nebulin 163Add BLAST | 31 | |
Repeati | 5987 – 6017 | Nebulin 164Add BLAST | 31 | |
Repeati | 6025 – 6055 | Nebulin 165Add BLAST | 31 | |
Repeati | 6060 – 6090 | Nebulin 166Add BLAST | 31 | |
Repeati | 6095 – 6125 | Nebulin 167Add BLAST | 31 | |
Repeati | 6130 – 6160 | Nebulin 168Add BLAST | 31 | |
Repeati | 6161 – 6191 | Nebulin 169Add BLAST | 31 | |
Repeati | 6192 – 6222 | Nebulin 170Add BLAST | 31 | |
Repeati | 6223 – 6253 | Nebulin 171Add BLAST | 31 | |
Repeati | 6255 – 6284 | Nebulin 172Add BLAST | 30 | |
Repeati | 6285 – 6315 | Nebulin 173Add BLAST | 31 | |
Repeati | 6316 – 6346 | Nebulin 174Add BLAST | 31 | |
Repeati | 6347 – 6377 | Nebulin 175Add BLAST | 31 | |
Repeati | 6378 – 6408 | Nebulin 176Add BLAST | 31 | |
Repeati | 6414 – 6444 | Nebulin 177Add BLAST | 31 | |
Repeati | 6449 – 6479 | Nebulin 178Add BLAST | 31 | |
Domaini | 6610 – 6669 | SH3PROSITE-ProRule annotationAdd BLAST | 60 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 6457 – 6612 | Interaction with SVIL1 PublicationAdd BLAST | 156 |
Keywords - Domaini
Repeat, SH3 domainPhylogenomic databases
GeneTreei | ENSGT00940000154533 |
HOGENOMi | CLU_000024_0_0_1 |
InParanoidi | P20929 |
OrthoDBi | 1549538at2759 |
TreeFami | TF319104 |
Family and domain databases
CDDi | cd11933, SH3_Nebulin_C, 1 hit |
InterProi | View protein in InterPro IPR013998, Nebulin-like IPR000900, Nebulin_repeat IPR035629, Nebulin_SH3 IPR036028, SH3-like_dom_sf IPR001452, SH3_domain |
Pfami | View protein in Pfam PF00880, Nebulin, 75 hits PF14604, SH3_9, 1 hit |
PRINTSi | PR00510, NEBULIN |
SMARTi | View protein in SMART SM00227, NEBU, 181 hits SM00326, SH3, 1 hit |
SUPFAMi | SSF50044, SSF50044, 1 hit |
PROSITEi | View protein in PROSITE PS51216, NEBULIN, 181 hits PS50002, SH3, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087X1N7 | A0A087X1N7_HUMAN | Nebulin | NEB | 8,560 | Annotation score: | ||
H0Y786 | H0Y786_HUMAN | Nebulin | NEB | 3,007 | Annotation score: | ||
H7BZD5 | H7BZD5_HUMAN | Nebulin | NEB | 766 | Annotation score: | ||
H0Y3P5 | H0Y3P5_HUMAN | Nebulin | NEB | 659 | Annotation score: | ||
H7C2D0 | H7C2D0_HUMAN | Nebulin | NEB | 250 | Annotation score: | ||
H7C2B3 | H7C2B3_HUMAN | Nebulin | NEB | 255 | Annotation score: | ||
H7C2Z5 | H7C2Z5_HUMAN | Nebulin | NEB | 401 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 727 | E → D in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 781 | K → R in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 1290 | N → S in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 1305 | A → R in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 1389 | S → T in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 1549 | A → R in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 1939 | P → L in AAA59917 (PubMed:3397062).Curated | 1 | |
Sequence conflicti | 2023 | M → I in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 2613 | K → Y in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 3796 | G → E in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 3838 | D → Y in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 5038 | T → P in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 5132 | K → E in CAA58788 (PubMed:7739042).Curated | 1 | |
Sequence conflicti | 5432 – 5433 | AG → RS in CAA58788 (PubMed:7739042).Curated | 2 | |
Sequence conflicti | 6289 | A → P in CAA58788 (PubMed:7739042).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047692 | 146 | T → A. Corresponds to variant dbSNP:rs4077109Ensembl. | 1 | |
Natural variantiVAR_047693 | 191 | E → Q. Corresponds to variant dbSNP:rs35686968EnsemblClinVar. | 1 | |
Natural variantiVAR_047694 | 1027 | K → N1 PublicationCorresponds to variant dbSNP:rs6735208EnsemblClinVar. | 1 | |
Natural variantiVAR_047695 | 1301 | Y → H1 PublicationCorresponds to variant dbSNP:rs6711382EnsemblClinVar. | 1 | |
Natural variantiVAR_047696 | 1469 | E → D. Corresponds to variant dbSNP:rs34800215EnsemblClinVar. | 1 | |
Natural variantiVAR_047697 | 1479 | V → I. Corresponds to variant dbSNP:rs34577613EnsemblClinVar. | 1 | |
Natural variantiVAR_047698 | 1491 | V → M1 PublicationCorresponds to variant dbSNP:rs7426114EnsemblClinVar. | 1 | |
Natural variantiVAR_047699 | 1969 | Y → H. Corresponds to variant dbSNP:rs34532796EnsemblClinVar. | 1 | |
Natural variantiVAR_047700 | 2613 | K → N. Corresponds to variant dbSNP:rs13013209EnsemblClinVar. | 1 | |
Natural variantiVAR_047701 | 2773 | R → Q. Corresponds to variant dbSNP:rs35974308EnsemblClinVar. | 1 | |
Natural variantiVAR_047702 | 2912 | S → P. Corresponds to variant dbSNP:rs6713162EnsemblClinVar. | 1 | |
Natural variantiVAR_047703 | 2952 | V → G. Corresponds to variant dbSNP:rs13024542Ensembl. | 1 | |
Natural variantiVAR_047704 | 3360 | W → C1 PublicationCorresponds to variant dbSNP:rs10172023Ensembl. | 1 | |
Natural variantiVAR_047705 | 3887 | S → T. Corresponds to variant dbSNP:rs35227368Ensembl. | 1 | |
Natural variantiVAR_047706 | 4271 | P → L. Corresponds to variant dbSNP:rs4327235Ensembl. | 1 | |
Natural variantiVAR_047707 | 4337 | N → S. Corresponds to variant dbSNP:rs16830236Ensembl. | 1 | |
Natural variantiVAR_047708 | 4401 | R → T1 PublicationCorresponds to variant dbSNP:rs2288210Ensembl. | 1 | |
Natural variantiVAR_024240 | 5030 | D → V. Corresponds to variant dbSNP:rs2288200Ensembl. | 1 | |
Natural variantiVAR_047709 | 5463 | R → P. Corresponds to variant dbSNP:rs16830171Ensembl. | 1 | |
Natural variantiVAR_021888 | 5934 | G → E. Corresponds to variant dbSNP:rs3732309Ensembl. | 1 | |
Natural variantiVAR_056953 | 6131 | T → I. Corresponds to variant dbSNP:rs34368668Ensembl. | 1 | |
Natural variantiVAR_056954 | 6546 | I → V1 PublicationCorresponds to variant dbSNP:rs1061305Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054444 | 2959 – 2960 | IT → LN in isoform 4. 1 Publication | 2 | |
Alternative sequenceiVSP_054445 | 2973 | D → DKTQIHIMPDTPEIMLARMN KINYSESLYKLANEEAKKKG YDLRSDAIPIVAAKASRDII SDYKYKDGYCKQLGHHIGAR NIEDDPKMMWSMHVAKIQSD REYKKDFEKWKTKFSSPVDM LGVVLAKKCQTLVSDVDYKN YLHEWTCLPDQSDVIHARQA YDLQSDNIYKSDLQWLRGIG WVPIGSMDVVKCKRATEILS DNIYRQPPDKLKFTSVTDSL EQVLAKNNALNMNKRLYTEA WDKD in isoform 2 and isoform 3. Curated | 1 | |
Alternative sequenceiVSP_054446 | 3854 – 3859 | DIIQAK → 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. Curated | 6 | |
Alternative sequenceiVSP_054447 | 5404 – 5436 | KKYRA…AGDQI → RKYKSSAKMFLQHGCNEILR PDMLTALYNSHMW in isoform 2. CuratedAdd BLAST | 33 | |
Alternative sequenceiVSP_054448 | 6272 – 6273 | NF → NFSSILYKENLSKGTPLPVT PEMERVKLNQENFSSVLYKE NVGKGIPIPITPEMERVKHN QENFSSVLYKENLGTGIPIP ITPEMQRVKHNQENLSSVLY KENMGKGTPLPVTPEMERVK HNQENISSVLYKENMGKGTP LPVTPEMERVKHNQENI in isoform 2 and isoform 3. Curated | 2 |
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 |
CCDSi | CCDS46424.1 [P20929-4] CCDS54408.1 [P20929-3] |
PIRi | A29979 B29979 S55024 |
RefSeqi | NP_004534.2, NM_004543.4 [P20929-4] |
Genome annotation databases
Ensembli | ENST00000172853; 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] |
GeneIDi | 4703 |
KEGGi | hsa:4703 |
UCSCi | uc002txu.3, human [P20929-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar 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 |
CCDSi | CCDS46424.1 [P20929-4] CCDS54408.1 [P20929-3] |
PIRi | A29979 B29979 S55024 |
RefSeqi | NP_004534.2, NM_004543.4 [P20929-4] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1ARK | NMR | - | A | 6610-6669 | [»] | |
1NEB | NMR | - | A | 6610-6669 | [»] | |
SMRi | P20929 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110783, 29 interactors |
IntActi | P20929, 35 interactors |
MINTi | P20929 |
PTM databases
CarbonylDBi | P20929 |
iPTMneti | P20929 |
PhosphoSitePlusi | P20929 |
Polymorphism and mutation databases
BioMutai | NEB |
DMDMi | 313104310 |
Proteomic databases
jPOSTi | P20929 |
MassIVEi | P20929 |
PeptideAtlasi | P20929 |
PRIDEi | P20929 |
ProteomicsDBi | 31194 31219 53825 [P20929-1] |
Protocols and materials databases
Antibodypediai | 1171, 115 antibodies |
Genome annotation databases
Ensembli | ENST00000172853; 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] |
GeneIDi | 4703 |
KEGGi | hsa:4703 |
UCSCi | uc002txu.3, human [P20929-1] |
Organism-specific databases
CTDi | 4703 |
DisGeNETi | 4703 |
EuPathDBi | HostDB:ENSG00000183091.19 |
GeneCardsi | NEB |
GeneReviewsi | NEB |
HGNCi | HGNC:7720, NEB |
HPAi | ENSG00000183091, Tissue enriched (skeletal) |
MalaCardsi | NEB |
MIMi | 161650, gene 256030, phenotype |
neXtProti | NX_P20929 |
OpenTargetsi | ENSG00000183091 |
Orphaneti | 171439, 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 |
PharmGKBi | PA31530 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00940000154533 |
HOGENOMi | CLU_000024_0_0_1 |
InParanoidi | P20929 |
OrthoDBi | 1549538at2759 |
TreeFami | TF319104 |
Enzyme and pathway databases
PathwayCommonsi | P20929 |
Reactomei | R-HSA-390522, Striated Muscle Contraction |
SIGNORi | P20929 |
Miscellaneous databases
BioGRID-ORCSi | 4703, 4 hits in 838 CRISPR screens |
ChiTaRSi | NEB, human |
EvolutionaryTracei | P20929 |
GenomeRNAii | 4703 |
Pharosi | P20929, Tbio |
PROi | PR:P20929 |
RNActi | P20929, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183091, Expressed in deltoid and 156 other tissues |
ExpressionAtlasi | P20929, baseline and differential |
Genevisiblei | P20929, HS |
Family and domain databases
CDDi | cd11933, SH3_Nebulin_C, 1 hit |
InterProi | View protein in InterPro IPR013998, Nebulin-like IPR000900, Nebulin_repeat IPR035629, Nebulin_SH3 IPR036028, SH3-like_dom_sf IPR001452, SH3_domain |
Pfami | View protein in Pfam PF00880, Nebulin, 75 hits PF14604, SH3_9, 1 hit |
PRINTSi | PR00510, NEBULIN |
SMARTi | View protein in SMART SM00227, NEBU, 181 hits SM00326, SH3, 1 hit |
SUPFAMi | SSF50044, SSF50044, 1 hit |
PROSITEi | View protein in PROSITE PS51216, NEBULIN, 181 hits PS50002, SH3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NEBU_HUMAN | |
Accessioni | P20929Primary (citable) accession number: P20929 Secondary accession number(s): F8WCL5 Q53TG8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1991 |
Last sequence update: | May 14, 2014 | |
Last modified: | December 2, 2020 | |
This is version 196 of the entry and version 5 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations