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P20929

- NEBU_HUMAN

UniProt

P20929 - NEBU_HUMAN

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Protein
Nebulin
Gene
NEB
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

  1. protein binding Source: IntAct
  2. structural constituent of muscle Source: ProtInc

GO - Biological processi

  1. muscle filament sliding Source: Reactome
  2. muscle organ development Source: ProtInc
  3. regulation of actin filament length Source: UniProtKB
  4. somatic muscle development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Nebulin
Gene namesi
Name:NEB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:7720. NEB.

Subcellular locationi

GO - Cellular componenti

  1. Z disc Source: UniProtKB
  2. actin cytoskeleton Source: ProtInc
  3. cytosol Source: Reactome
  4. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 2 (NEM2) [MIM:256030]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Nemaline myopathy

Organism-specific databases

MIMi256030. phenotype.
Orphaneti171439. Childhood-onset nemaline myopathy.
171433. Intermediate nemaline myopathy.
171430. Severe congenital nemaline myopathy.
171436. Typical nemaline myopathy.
PharmGKBiPA31530.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 66696669Nebulin
PRO_0000096775Add
BLAST

Proteomic databases

PaxDbiP20929.
PRIDEiP20929.

PTM databases

PhosphoSiteiP20929.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiP20929.
BgeeiP20929.
CleanExiHS_NEB.
GenevestigatoriP20929.

Organism-specific databases

HPAiHPA016601.

Interactioni

Subunit structurei

Interacts with TTN/titin. Interacts with SVIL.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ACO1P213992EBI-1049657,EBI-2847111
DOCK9Q9BZ292EBI-1049657,EBI-2695893
DYSFO759236EBI-1049657,EBI-2799016
KLHL41O606628EBI-1049657,EBI-5353084
MYPNQ86TC92EBI-1049657,EBI-2562606
SOS1Q078893EBI-1049657,EBI-297487
SVILO954254EBI-1049657,EBI-487145
TTNQ8WZ426EBI-1049657,EBI-681210

Protein-protein interaction databases

BioGridi110783. 15 interactions.
IntActiP20929. 25 interactions.
MINTiMINT-1175200.
STRINGi9606.ENSP00000386259.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi6615 – 66173
Beta strandi6624 – 66285
Beta strandi6640 – 66423
Beta strandi6644 – 66518
Turni6653 – 66553
Beta strandi6658 – 66625
Turni6663 – 66653
Beta strandi6666 – 66683

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1ARKNMR-A6610-6669[»]
1NEBNMR-A6610-6669[»]
ProteinModelPortaliP20929.

Miscellaneous databases

EvolutionaryTraceiP20929.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati76 – 10732Nebulin 1
Add
BLAST
Repeati113 – 14331Nebulin 2
Add
BLAST
Repeati148 – 17831Nebulin 3
Add
BLAST
Repeati183 – 21331Nebulin 4
Add
BLAST
Repeati218 – 24831Nebulin 5
Add
BLAST
Repeati253 – 28331Nebulin 6
Add
BLAST
Repeati289 – 31830Nebulin 7
Add
BLAST
Repeati324 – 35431Nebulin 8
Add
BLAST
Repeati363 – 39331Nebulin 9
Add
BLAST
Repeati398 – 42831Nebulin 10
Add
BLAST
Repeati434 – 46431Nebulin 11
Add
BLAST
Repeati502 – 53231Nebulin 12
Add
BLAST
Repeati537 – 56731Nebulin 13
Add
BLAST
Repeati573 – 60331Nebulin 14
Add
BLAST
Repeati611 – 64131Nebulin 15
Add
BLAST
Repeati681 – 71131Nebulin 16
Add
BLAST
Repeati749 – 77931Nebulin 17
Add
BLAST
Repeati784 – 81431Nebulin 18
Add
BLAST
Repeati820 – 85031Nebulin 19
Add
BLAST
Repeati858 – 88831Nebulin 20
Add
BLAST
Repeati893 – 92331Nebulin 21
Add
BLAST
Repeati924 – 95431Nebulin 22
Add
BLAST
Repeati959 – 99032Nebulin 23
Add
BLAST
Repeati993 – 102331Nebulin 24
Add
BLAST
Repeati1028 – 105831Nebulin 25
Add
BLAST
Repeati1064 – 109431Nebulin 26
Add
BLAST
Repeati1102 – 113231Nebulin 27
Add
BLAST
Repeati1137 – 116731Nebulin 28
Add
BLAST
Repeati1168 – 119831Nebulin 29
Add
BLAST
Repeati1204 – 123431Nebulin 30
Add
BLAST
Repeati1237 – 126731Nebulin 31
Add
BLAST
Repeati1272 – 130231Nebulin 32
Add
BLAST
Repeati1308 – 133831Nebulin 33
Add
BLAST
Repeati1346 – 137631Nebulin 34
Add
BLAST
Repeati1381 – 141131Nebulin 35
Add
BLAST
Repeati1412 – 144231Nebulin 36
Add
BLAST
Repeati1448 – 147831Nebulin 37
Add
BLAST
Repeati1481 – 151131Nebulin 38
Add
BLAST
Repeati1516 – 154631Nebulin 39
Add
BLAST
Repeati1552 – 158231Nebulin 40
Add
BLAST
Repeati1590 – 162031Nebulin 41
Add
BLAST
Repeati1625 – 165531Nebulin 42
Add
BLAST
Repeati1656 – 168631Nebulin 43
Add
BLAST
Repeati1692 – 172231Nebulin 44
Add
BLAST
Repeati1725 – 175531Nebulin 45
Add
BLAST
Repeati1760 – 179031Nebulin 46
Add
BLAST
Repeati1796 – 182631Nebulin 47
Add
BLAST
Repeati1834 – 186431Nebulin 48
Add
BLAST
Repeati1869 – 189931Nebulin 49
Add
BLAST
Repeati1900 – 193031Nebulin 50
Add
BLAST
Repeati1936 – 196631Nebulin 51
Add
BLAST
Repeati1969 – 199931Nebulin 52
Add
BLAST
Repeati2004 – 203431Nebulin 53
Add
BLAST
Repeati2040 – 207031Nebulin 54
Add
BLAST
Repeati2078 – 210831Nebulin 55
Add
BLAST
Repeati2113 – 214331Nebulin 56
Add
BLAST
Repeati2144 – 217431Nebulin 57
Add
BLAST
Repeati2180 – 221031Nebulin 58
Add
BLAST
Repeati2213 – 224331Nebulin 59
Add
BLAST
Repeati2248 – 227831Nebulin 60
Add
BLAST
Repeati2284 – 231431Nebulin 61
Add
BLAST
Repeati2322 – 235231Nebulin 62
Add
BLAST
Repeati2357 – 238731Nebulin 63
Add
BLAST
Repeati2388 – 241831Nebulin 64
Add
BLAST
Repeati2423 – 245331Nebulin 65
Add
BLAST
Repeati2456 – 248631Nebulin 66
Add
BLAST
Repeati2491 – 252131Nebulin 67
Add
BLAST
Repeati2527 – 255731Nebulin 68
Add
BLAST
Repeati2565 – 259531Nebulin 69
Add
BLAST
Repeati2600 – 263031Nebulin 70
Add
BLAST
Repeati2631 – 266131Nebulin 71
Add
BLAST
Repeati2666 – 269631Nebulin 72
Add
BLAST
Repeati2699 – 272931Nebulin 73
Add
BLAST
Repeati2734 – 276431Nebulin 74
Add
BLAST
Repeati2770 – 280031Nebulin 75
Add
BLAST
Repeati2808 – 283831Nebulin 76
Add
BLAST
Repeati2843 – 287331Nebulin 77
Add
BLAST
Repeati2874 – 290431Nebulin 78
Add
BLAST
Repeati2909 – 293931Nebulin 79
Add
BLAST
Repeati2942 – 297231Nebulin 80
Add
BLAST
Repeati2977 – 300731Nebulin 81
Add
BLAST
Repeati3013 – 304331Nebulin 82
Add
BLAST
Repeati3051 – 308131Nebulin 83
Add
BLAST
Repeati3086 – 311631Nebulin 84
Add
BLAST
Repeati3117 – 314731Nebulin 85
Add
BLAST
Repeati3152 – 318231Nebulin 86
Add
BLAST
Repeati3185 – 321531Nebulin 87
Add
BLAST
Repeati3220 – 325031Nebulin 88
Add
BLAST
Repeati3256 – 328631Nebulin 89
Add
BLAST
Repeati3294 – 332431Nebulin 90
Add
BLAST
Repeati3329 – 335931Nebulin 91
Add
BLAST
Repeati3360 – 339031Nebulin 92
Add
BLAST
Repeati3395 – 342531Nebulin 93
Add
BLAST
Repeati3428 – 345831Nebulin 94
Add
BLAST
Repeati3463 – 349331Nebulin 95
Add
BLAST
Repeati3499 – 352931Nebulin 96
Add
BLAST
Repeati3537 – 356731Nebulin 97
Add
BLAST
Repeati3572 – 360231Nebulin 98
Add
BLAST
Repeati3603 – 363331Nebulin 99
Add
BLAST
Repeati3638 – 366831Nebulin 100
Add
BLAST
Repeati3671 – 370131Nebulin 101
Add
BLAST
Repeati3706 – 373631Nebulin 102
Add
BLAST
Repeati3742 – 377231Nebulin 103
Add
BLAST
Repeati3780 – 381031Nebulin 104
Add
BLAST
Repeati3815 – 384531Nebulin 105
Add
BLAST
Repeati3846 – 387631Nebulin 106
Add
BLAST
Repeati3914 – 394431Nebulin 107
Add
BLAST
Repeati3949 – 397931Nebulin 108
Add
BLAST
Repeati3984 – 401431Nebulin 109
Add
BLAST
Repeati4021 – 405232Nebulin 110
Add
BLAST
Repeati4057 – 408731Nebulin 111
Add
BLAST
Repeati4088 – 411831Nebulin 112
Add
BLAST
Repeati4123 – 415331Nebulin 113
Add
BLAST
Repeati4156 – 418631Nebulin 114
Add
BLAST
Repeati4191 – 422030Nebulin 115
Add
BLAST
Repeati4226 – 425631Nebulin 116
Add
BLAST
Repeati4264 – 429431Nebulin 117
Add
BLAST
Repeati4299 – 432931Nebulin 118
Add
BLAST
Repeati4330 – 436031Nebulin 119
Add
BLAST
Repeati4365 – 439531Nebulin 120
Add
BLAST
Repeati4400 – 443031Nebulin 121
Add
BLAST
Repeati4435 – 446531Nebulin 122
Add
BLAST
Repeati4471 – 450131Nebulin 123
Add
BLAST
Repeati4544 – 457431Nebulin 124
Add
BLAST
Repeati4575 – 460531Nebulin 125
Add
BLAST
Repeati4610 – 464031Nebulin 126
Add
BLAST
Repeati4645 – 467531Nebulin 127
Add
BLAST
Repeati4680 – 471031Nebulin 128
Add
BLAST
Repeati4716 – 474631Nebulin 129
Add
BLAST
Repeati4754 – 478431Nebulin 130
Add
BLAST
Repeati4789 – 481931Nebulin 131
Add
BLAST
Repeati4820 – 485031Nebulin 132
Add
BLAST
Repeati4855 – 488531Nebulin 133
Add
BLAST
Repeati4890 – 492031Nebulin 134
Add
BLAST
Repeati4926 – 495631Nebulin 135
Add
BLAST
Repeati4961 – 499131Nebulin 136
Add
BLAST
Repeati4997 – 502731Nebulin 137
Add
BLAST
Repeati5032 – 506231Nebulin 138
Add
BLAST
Repeati5067 – 509731Nebulin 139
Add
BLAST
Repeati5137 – 516731Nebulin 140
Add
BLAST
Repeati5172 – 520231Nebulin 141
Add
BLAST
Repeati5207 – 523731Nebulin 142
Add
BLAST
Repeati5242 – 527231Nebulin 143
Add
BLAST
Repeati5277 – 530731Nebulin 144
Add
BLAST
Repeati5312 – 534231Nebulin 145
Add
BLAST
Repeati5347 – 537731Nebulin 146
Add
BLAST
Repeati5382 – 541231Nebulin 147
Add
BLAST
Repeati5417 – 544731Nebulin 148
Add
BLAST
Repeati5452 – 548231Nebulin 149
Add
BLAST
Repeati5488 – 551831Nebulin 150
Add
BLAST
Repeati5523 – 555331Nebulin 151
Add
BLAST
Repeati5558 – 558831Nebulin 152
Add
BLAST
Repeati5593 – 562331Nebulin 153
Add
BLAST
Repeati5628 – 565831Nebulin 154
Add
BLAST
Repeati5665 – 569531Nebulin 155
Add
BLAST
Repeati5702 – 573231Nebulin 156
Add
BLAST
Repeati5736 – 576631Nebulin 157
Add
BLAST
Repeati5771 – 580131Nebulin 158
Add
BLAST
Repeati5808 – 583831Nebulin 159
Add
BLAST
Repeati5843 – 587331Nebulin 160
Add
BLAST
Repeati5878 – 590831Nebulin 161
Add
BLAST
Repeati5911 – 594333Nebulin 162
Add
BLAST
Repeati5950 – 598031Nebulin 163
Add
BLAST
Repeati5987 – 601731Nebulin 164
Add
BLAST
Repeati6025 – 605531Nebulin 165
Add
BLAST
Repeati6060 – 609031Nebulin 166
Add
BLAST
Repeati6095 – 612531Nebulin 167
Add
BLAST
Repeati6130 – 616031Nebulin 168
Add
BLAST
Repeati6161 – 619131Nebulin 169
Add
BLAST
Repeati6192 – 622231Nebulin 170
Add
BLAST
Repeati6223 – 625331Nebulin 171
Add
BLAST
Repeati6255 – 628430Nebulin 172
Add
BLAST
Repeati6285 – 631531Nebulin 173
Add
BLAST
Repeati6316 – 634631Nebulin 174
Add
BLAST
Repeati6347 – 637731Nebulin 175
Add
BLAST
Repeati6378 – 640831Nebulin 176
Add
BLAST
Repeati6414 – 644431Nebulin 177
Add
BLAST
Repeati6449 – 647931Nebulin 178
Add
BLAST
Domaini6610 – 666960SH3
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni6457 – 6612156Interaction with SVIL
Add
BLAST

Sequence similaritiesi

Contains 178 nebulin repeats.
Contains 1 SH3 domain.

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000231776.
HOVERGENiHBG045595.
InParanoidiP20929.
KOiK18267.
OrthoDBiEOG7GFB81.
PhylomeDBiP20929.
TreeFamiTF319104.

Family and domain databases

InterProiIPR013998. Nebulin.
IPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00880. Nebulin. 113 hits.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00510. NEBULIN.
SMARTiSM00227. NEBU. 181 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS51216. NEBULIN. 181 hits.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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

MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP     50
ALAQPALAQP ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK 100
YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV 150
DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA 200
MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ 250
AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA 300
RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE 350
DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN 400
YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT 450
AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT 500
KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK 550
VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD 600
YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC 650
ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN 700
SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT 750
AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA 800
YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK 850
SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML 900
QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA 950
DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP 1000
ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN 1050
MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV 1100
GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK 1150
KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM 1200
KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK 1250
QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW 1300
YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ 1350
DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA 1400
TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI 1450
PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL 1500
SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK 1550
GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV 1600
HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR 1650
QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE 1700
VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT 1750
EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP 1800
DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA 1850
KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY 1900
NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK 1950
AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD 2000
KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK 2050
AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR 2100
EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA 2150
MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS 2200
DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV 2250
MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR 2300
DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF 2350
EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA 2400
KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP 2450
PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI 2500
VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK 2550
YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF 2600
SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ 2650
SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS 2700
SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK 2750
VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK 2800
QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML 2850
GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS 2900
DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE 2950
QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR QNKINYSETL 3000
YKLANEEAKK KGYDLRSDAI PIVAAKASRD VISDYKYKDG YRKQLGHHIG 3050
ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK 3100
CQTLVSDVDY KNYLHEWTCL PDQNDVIHAR QAYDLQSDNI YKSDLQWLRG 3150
IGWVPIGSMD VVKCKRAAEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN 3200
ALNMNKRLYT EAWDKDKTQV HIMPDTPEIM LARQNKINYS ESLYRQAMEE 3250
AKKEGYDLRS DAIPIVAAKA SRDIASDYKY KEAYRKQLGH HIGARAVHDD 3300
PKIMWSLHIA KVQSDREYKK DFEKYKTRYS SPVDMLGIVL AKKCQTLVSD 3350
VDYKHPLHEW ICLPDQNDII HARKAYDLQS DNLYKSDLEW MKGIGWVPID 3400
SLEVVRAKRA GELLSDTIYR QRPETLKFTS ITDTPEQVLA KNNALNMNKR 3450
LYTEAWDNDK KTIHVMPDTP EIMLAKLNRI NYSDKLYKLA LEESKKEGYD 3500
LRLDAIPIQA AKASRDIASD YKYKEGYRKQ LGHHIGARNI KDDPKMMWSI 3550
HVAKIQSDRE YKKEFEKWKT KFSSPVDMLG VVLAKKCQIL VSDIDYKHPL 3600
HEWTCLPDQN DVIQARKAYD LQSDAIYKSD LEWLRGIGWV PIGSVEVEKV 3650
KRAGEILSDR KYRQPADQLK FTCITDTPEI VLAKNNALTM SKHLYTEAWD 3700
ADKTSIHVMP DTPDILLAKS NSANISQKLY TKGWDESKMK DYDLRADAIS 3750
IKSAKASRDI ASDYKYKEAY EKQKGHHIGA QSIEDDPKIM CAIHAGKIQS 3800
EREYKKEFQK WKTKFSSPVD MLSILLAKKC QTLVTDIDYR NYLHEWTCMP 3850
DQNDIIQAKK AYDLQSDALY KADLEWLRGI GWMPQGSPEV LRVKNAQNIF 3900
CDSVYRTPVV NLKYTSIVDT PEVVLAKSNA ENISIPKYRE VWDKDKTSIH 3950
IMPDTPEINL ARANALNVSN KLYREGWDEM KAGCDVRLDA IPIQAAKASR 4000
EIASDYKYKL DHEKQKGHYV GTLTARDDNK IRWALIADKL QNEREYRLDW 4050
AKWKAKIQSP VDMLSILHSK NSQALVSDMD YRNYLHQWTC MPDQNDVIQA 4100
KKAYELQSDN VYKADLEWLR GIGWMPNDSV SVNHAKHAAD IFSEKKYRTK 4150
IETLNFTPVD DRVDYVTAKQ SGEILDDIKY RKDWNATKSK YTLTETPLLH 4200
TAQEAARILD QYLYKEGWER QKATGYILPP DAVPFVHAHH CNDVQSELKY 4250
KAEHVKQKGH YVGVPTMRDD PKLVWFEHAG QIQNERLYKE DYHKTKAKIN 4300
IPADMVSVLA AKQGQTLVSD IDYRNYLHQW MCHPDQNDVI QARKAYDLQS 4350
DNVYRADLEW LRGIGWIPLD SVDHVRVTKN QEMMSQIKYK KNALENYPNF 4400
RSVVDPPEIV LAKINSVNQS DVKYKETFNK AKGKYTFSPD TPHISHSKDM 4450
GKLYSTILYK GAWEGTKAYG YTLDERYIPI VGAKHADLVN SELKYKETYE 4500
KQKGHYLAGK VIGEFPGVVH CLDFQKMRSA LNYRKHYEDT KANVHIPNDM 4550
MNHVLAKRCQ YILSDLEYRH YFHQWTSLLE EPNVIRVRNA QEILSDNVYK 4600
DDLNWLKGIG CYVWDTPQIL HAKKSYDLQS QLQYTAAGKE NLQNYNLVTD 4650
TPLYVTAVQS GINASEVKYK ENYHQIKDKY TTVLETVDYD RTRNLKNLYS 4700
SNLYKEAWDR VKATSYILPS STLSLTHAKN QKHLASHIKY REEYEKFKAL 4750
YTLPRSVDDD PNTARCLRVG KLNIDRLYRS VYEKNKMKIH IVPDMVEMVT 4800
AKDSQKKVSE IDYRLRLHEW ICHPDLQVND HVRKVTDQIS DIVYKDDLNW 4850
LKGIGCYVWD TPEILHAKHA YDLRDDIKYK AHMLKTRNDY KLVTDTPVYV 4900
QAVKSGKQLS DAVYHYDYVH SVRGKVAPTT KTVDLDRALH AYKLQSSNLY 4950
KTSLRTLPTG YRLPGDTPHF KHIKDTRYMS SYFKYKEAYE HTKAYGYTLG 5000
PKDVPFVHVR RVNNVTSERL YRELYHKLKD KIHTTPDTPE IRQVKKTQEA 5050
VSELIYKSDF FKMQGHMISL PYTPQVIHCR YVGDITSDIK YKEDLQVLKG 5100
FGCFLYDTPD MVRSRHLRKL WSNYLYTDKA RKMRDKYKVV LDTPEYRKVQ 5150
ELKTHLSELV YRAAGKKQKS IFTSVPDTPD LLRAKRGQKL QSQYLYVELA 5200
TKERPHHHAG NQTTALKHAK DVKDMVSEKK YKIQYEKMKD KYTPVPDTPI 5250
LIRAKRAYWN ASDLRYKETF QKTKGKYHTV KDALDIVYHR KVTDDISKIK 5300
YKENYMSQLG IWRSIPDRPE HFHHRAVTDT VSDVKYKEDL TWLKGIGCYA 5350
YDTPDFTLAE KNKTLYSKYK YKEVFERTKS DFKYVADSPI NRHFKYATQL 5400
MNEKKYRADY EQRKDKYHLV VDEPRHLLAK TAGDQISQIK YRKNYEKSKD 5450
KFTSIVDTPE HLRTTKVNKQ ISDILYKLEY NKAKPRGYTT IHDTPMLLHV 5500
RKVKDEVSDL KYKEVYQRNK SNCTIEPDAV HIKAAKDAYK VNTNLDYKKQ 5550
YEANKAHWKW TPDRPDFLQA AKSSLQQSDF EYKLDREFLK GCKLSVTDDK 5600
NTVLALRNTL IESDLKYKEK HVKERGTCHA VPDTPQILLA KTVSNLVSEN 5650
KYKDHVKKHL AQGSYTTLPE TRDTVHVKEV TKHVSDTNYK KKFVKEKGKS 5700
NYSIMLEPPE VKHAMEVAKK QSDVAYRKDA KENLHYTTVA DRPDIKKATQ 5750
AAKQASEVEY RAKHRKEGSH GLSMLGRPDI EMAKKAAKLS SQVKYRENFD 5800
KEKGKTPKYN PKDSQLYKVM KDANNLASEV KYKADLKKLH KPVTDMKESL 5850
IMNHVLNTSQ LASSYQYKKK YEKSKGHYHT IPDNLEQLHL KEATELQSIV 5900
KYKEKYEKER GKPMLDFETP TYITAKESQQ MQSGKEYRKD YEESIKGRNL 5950
TGLEVTPALL HVKYATKIAS EKEYRKDLEE SIRGKGLTEM EDTPDMLRAK 6000
NATQILNEKE YKRDLELEVK GRGLNAMANE TPDFMRARNA TDIASQIKYK 6050
QSAEMEKANF TSVVDTPEII HAQQVKNLSS QKKYKEDAEK SMSYYETVLD 6100
TPEIQRVREN QKNFSLLQYQ CDLKNSKGKI TVVQDTPEIL RVKENQKNFS 6150
SVLYKEDVSP GTAIGKTPEM MRVKQTQDHI SSVKYKEAIG QGTPIPDLPE 6200
VKRVKETQKH ISSVMYKENL GTGIPTTVTP EIERVKRNQE NFSSVLYKEN 6250
LGKGIPTPIT PEMERVKRNQ ENFSSVLYKE NMGKGTPLAV TPEMERVKHN 6300
QENISSVLYK ENVGKATATP VTPEMQRVKR NQENISSVLY KENLGKATPT 6350
PFTPEMERVK RNQENFSSVL YKENMRKATP TPVTPEMERA KRNQENISSV 6400
LYSDSFRKQI QGKAAYVLDT PEMRRVRETQ RHISTVKYHE DFEKHKGCFT 6450
PVVTDPITER VKKNMQDFSD INYRGIQRKV VEMEQKRNDQ DQETITGLRV 6500
WRTNPGSVFD YDPAEDNIQS RSLHMINVQA QRRSREQSRS ASALSISGGE 6550
EKSEHSEAPD HHLSTYSDGG VFAVSTAYKH AKTTELPQQR SSSVATQQTT 6600
VSSIPSHPST AGKIFRAMYD YMAADADEVS FKDGDAIINV QAIDEGWMYG 6650
TVQRTGRTGM LPANYVEAI 6669
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti146 – 1461T → A.
Corresponds to variant rs4077109 [ dbSNP | Ensembl ].
VAR_047692
Natural varianti191 – 1911E → Q.
Corresponds to variant rs35686968 [ dbSNP | Ensembl ].
VAR_047693
Natural varianti1027 – 10271K → N.1 Publication
Corresponds to variant rs6735208 [ dbSNP | Ensembl ].
VAR_047694
Natural varianti1301 – 13011Y → H.1 Publication
Corresponds to variant rs6711382 [ dbSNP | Ensembl ].
VAR_047695
Natural varianti1469 – 14691E → D.
Corresponds to variant rs34800215 [ dbSNP | Ensembl ].
VAR_047696
Natural varianti1479 – 14791V → I.
Corresponds to variant rs34577613 [ dbSNP | Ensembl ].
VAR_047697
Natural varianti1491 – 14911V → M.1 Publication
Corresponds to variant rs7426114 [ dbSNP | Ensembl ].
VAR_047698
Natural varianti1969 – 19691Y → H.
Corresponds to variant rs34532796 [ dbSNP | Ensembl ].
VAR_047699
Natural varianti2613 – 26131K → N.
Corresponds to variant rs13013209 [ dbSNP | Ensembl ].
VAR_047700
Natural varianti2773 – 27731R → Q.
Corresponds to variant rs35974308 [ dbSNP | Ensembl ].
VAR_047701
Natural varianti2912 – 29121S → P.
Corresponds to variant rs6713162 [ dbSNP | Ensembl ].
VAR_047702
Natural varianti2952 – 29521V → G.
Corresponds to variant rs13024542 [ dbSNP | Ensembl ].
VAR_047703
Natural varianti3360 – 33601W → C.1 Publication
Corresponds to variant rs10172023 [ dbSNP | Ensembl ].
VAR_047704
Natural varianti3887 – 38871S → T.
Corresponds to variant rs35227368 [ dbSNP | Ensembl ].
VAR_047705
Natural varianti4271 – 42711P → L.
Corresponds to variant rs4327235 [ dbSNP | Ensembl ].
VAR_047706
Natural varianti4337 – 43371N → S.
Corresponds to variant rs16830236 [ dbSNP | Ensembl ].
VAR_047707
Natural varianti4401 – 44011R → T.1 Publication
Corresponds to variant rs2288210 [ dbSNP | Ensembl ].
VAR_047708
Natural varianti5030 – 50301D → V.
Corresponds to variant rs2288200 [ dbSNP | Ensembl ].
VAR_024240
Natural varianti5463 – 54631R → P.
Corresponds to variant rs16830171 [ dbSNP | Ensembl ].
VAR_047709
Natural varianti5934 – 59341G → E.
Corresponds to variant rs3732309 [ dbSNP | Ensembl ].
VAR_021888
Natural varianti6131 – 61311T → I.
Corresponds to variant rs34368668 [ dbSNP | Ensembl ].
VAR_056953
Natural varianti6546 – 65461I → V.1 Publication
Corresponds to variant rs1061305 [ dbSNP | Ensembl ].
VAR_056954

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2959 – 29602IT → LN in isoform 4.
VSP_054444
Alternative sequencei2973 – 29731D → DKTQIHIMPDTPEIMLARMN KINYSESLYKLANEEAKKKG YDLRSDAIPIVAAKASRDII SDYKYKDGYCKQLGHHIGAR NIEDDPKMMWSMHVAKIQSD REYKKDFEKWKTKFSSPVDM LGVVLAKKCQTLVSDVDYKN YLHEWTCLPDQSDVIHARQA YDLQSDNIYKSDLQWLRGIG WVPIGSMDVVKCKRATEILS DNIYRQPPDKLKFTSVTDSL EQVLAKNNALNMNKRLYTEA WDKD in isoform 2 and isoform 3.
VSP_054445
Alternative sequencei3854 – 38596DIIQAK → 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.
VSP_054446
Alternative sequencei5404 – 543633KKYRA…AGDQI → RKYKSSAKMFLQHGCNEILR PDMLTALYNSHMW in isoform 2.
VSP_054447Add
BLAST
Alternative sequencei6272 – 62732NF → NFSSILYKENLSKGTPLPVT PEMERVKLNQENFSSVLYKE NVGKGIPIPITPEMERVKHN QENFSSVLYKENLGTGIPIP ITPEMQRVKHNQENLSSVLY KENMGKGTPLPVTPEMERVK HNQENISSVLYKENMGKGTP LPVTPEMERVKHNQENI in isoform 2 and isoform 3.
VSP_054448

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti727 – 7271E → D in CAA58788. 1 Publication
Sequence conflicti781 – 7811K → R in CAA58788. 1 Publication
Sequence conflicti1290 – 12901N → S in CAA58788. 1 Publication
Sequence conflicti1305 – 13051A → R in CAA58788. 1 Publication
Sequence conflicti1389 – 13891S → T in CAA58788. 1 Publication
Sequence conflicti1549 – 15491A → R in CAA58788. 1 Publication
Sequence conflicti1939 – 19391P → L in AAA59917. 1 Publication
Sequence conflicti2023 – 20231M → I in CAA58788. 1 Publication
Sequence conflicti2613 – 26131K → Y in CAA58788. 1 Publication
Sequence conflicti3796 – 37961G → E in CAA58788. 1 Publication
Sequence conflicti3838 – 38381D → Y in CAA58788. 1 Publication
Sequence conflicti5038 – 50381T → P in CAA58788. 1 Publication
Sequence conflicti5132 – 51321K → E in CAA58788. 1 Publication
Sequence conflicti5432 – 54332AG → RS in CAA58788. 1 Publication
Sequence conflicti6289 – 62891A → P in CAA58788. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000397345; ENSP00000380505; ENSG00000183091.
ENST00000409198; ENSP00000386259; ENSG00000183091.
ENST00000427231; ENSP00000416578; ENSG00000183091.
ENST00000603639; ENSP00000473894; ENSG00000183091.
ENST00000604864; ENSP00000474498; ENSG00000183091.
GeneIDi4703.
KEGGihsa:4703.
UCSCiuc010fnx.3. human. [P20929-1]

Polymorphism databases

DMDMi313104310.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
CCDS54407.1. [P20929-2 ]
CCDS54408.1. [P20929-3 ]
PIRi A29979.
B29979.
S55024.
RefSeqi NP_004534.2. NM_004543.4.
UniGenei Hs.588655.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1ARK NMR - A 6610-6669 [» ]
1NEB NMR - A 6610-6669 [» ]
ProteinModelPortali P20929.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110783. 15 interactions.
IntActi P20929. 25 interactions.
MINTi MINT-1175200.
STRINGi 9606.ENSP00000386259.

PTM databases

PhosphoSitei P20929.

Polymorphism databases

DMDMi 313104310.

Proteomic databases

PaxDbi P20929.
PRIDEi P20929.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000397345 ; ENSP00000380505 ; ENSG00000183091 .
ENST00000409198 ; ENSP00000386259 ; ENSG00000183091 .
ENST00000427231 ; ENSP00000416578 ; ENSG00000183091 .
ENST00000603639 ; ENSP00000473894 ; ENSG00000183091 .
ENST00000604864 ; ENSP00000474498 ; ENSG00000183091 .
GeneIDi 4703.
KEGGi hsa:4703.
UCSCi uc010fnx.3. human. [P20929-1 ]

Organism-specific databases

CTDi 4703.
GeneCardsi GC02M152306.
GeneReviewsi NEB.
HGNCi HGNC:7720. NEB.
HPAi HPA016601.
MIMi 161650. gene.
256030. phenotype.
neXtProti NX_P20929.
Orphaneti 171439. Childhood-onset nemaline myopathy.
171433. Intermediate nemaline myopathy.
171430. Severe congenital nemaline myopathy.
171436. Typical nemaline myopathy.
PharmGKBi PA31530.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000231776.
HOVERGENi HBG045595.
InParanoidi P20929.
KOi K18267.
OrthoDBi EOG7GFB81.
PhylomeDBi P20929.
TreeFami TF319104.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi NEB. human.
EvolutionaryTracei P20929.
GenomeRNAii 4703.
NextBioi 18136.
PROi P20929.
SOURCEi Search...

Gene expression databases

ArrayExpressi P20929.
Bgeei P20929.
CleanExi HS_NEB.
Genevestigatori P20929.

Family and domain databases

InterProi IPR013998. Nebulin.
IPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view ]
Pfami PF00880. Nebulin. 113 hits.
PF14604. SH3_9. 1 hit.
[Graphical view ]
PRINTSi PR00510. NEBULIN.
SMARTi SM00227. NEBU. 181 hits.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
PROSITEi PS51216. NEBULIN. 181 hits.
PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The complete primary structure of human nebulin and its correlation to muscle structure."
    Labeit S., Kolmerer B.
    J. Mol. Biol. 248:308-315(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANTS ASN-1027; HIS-1301; MET-1491; CYS-3360; THR-4401 AND VAL-6546.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Cloning, expression, and protein interaction of human nebulin fragments composed of varying numbers of sequence modules."
    Jin J.P., Wang K.
    J. Biol. Chem. 266:21215-21223(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6263-6329.
  4. "Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32."
    Zeviani M., Darras B.T., Rizzuto R., Salviati G., Betto R., Bonilla E., Miranda A.F., Du J., Samitt C., Dickson G., Walsh F.S., Dimauro S., Francke U., Schon E.A.
    Genomics 2:249-256(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1811-1939.
  5. "Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin."
    Ma K., Wang K.
    FEBS Lett. 532:273-278(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TTN.
  6. "SH3 in muscles: solution structure of the SH3 domain from nebulin."
    Politou A.S., Millevoi S., Gautel M., Kolmerer B., Pastore A.
    J. Mol. Biol. 276:189-202(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 6610-6669.
  7. Cited for: INVOLVEMENT IN NEM2.
  8. "Archvillin anchors in the Z-line of skeletal muscle via the nebulin C-terminus."
    Lee M.-A., Joo Y.M., Lee Y.M., Kim H.S., Kim J.-H., Choi J.-K., Ahn S.-J., Min B.-I., Kim C.-R.
    Biochem. Biophys. Res. Commun. 374:320-324(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SVIL.

Entry informationi

Entry nameiNEBU_HUMAN
AccessioniPrimary (citable) accession number: P20929
Secondary accession number(s): F8WCL5
, F8WCP0, Q15346, Q53QQ2, Q53TG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: May 14, 2014
Last modified: September 3, 2014
This is version 145 of the entry and version 5 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 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
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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