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P20929 (NEBU_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nebulin
Gene names
Name:NEB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length6669 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with TTN/titin. Interacts with SVIL. Ref.5 Ref.8

Subcellular location

Cytoplasmmyofibrilsarcomere. Cytoplasmcytoskeleton.

Tissue specificity

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

Involvement in disease

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. Ref.7

Sequence similarities

Contains 178 nebulin repeats.

Contains 1 SH3 domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 66696669Nebulin
PRO_0000096775

Regions

Repeat76 – 10732Nebulin 1
Repeat113 – 14331Nebulin 2
Repeat148 – 17831Nebulin 3
Repeat183 – 21331Nebulin 4
Repeat218 – 24831Nebulin 5
Repeat253 – 28331Nebulin 6
Repeat289 – 31830Nebulin 7
Repeat324 – 35431Nebulin 8
Repeat363 – 39331Nebulin 9
Repeat398 – 42831Nebulin 10
Repeat434 – 46431Nebulin 11
Repeat502 – 53231Nebulin 12
Repeat537 – 56731Nebulin 13
Repeat573 – 60331Nebulin 14
Repeat611 – 64131Nebulin 15
Repeat681 – 71131Nebulin 16
Repeat749 – 77931Nebulin 17
Repeat784 – 81431Nebulin 18
Repeat820 – 85031Nebulin 19
Repeat858 – 88831Nebulin 20
Repeat893 – 92331Nebulin 21
Repeat924 – 95431Nebulin 22
Repeat959 – 99032Nebulin 23
Repeat993 – 102331Nebulin 24
Repeat1028 – 105831Nebulin 25
Repeat1064 – 109431Nebulin 26
Repeat1102 – 113231Nebulin 27
Repeat1137 – 116731Nebulin 28
Repeat1168 – 119831Nebulin 29
Repeat1204 – 123431Nebulin 30
Repeat1237 – 126731Nebulin 31
Repeat1272 – 130231Nebulin 32
Repeat1308 – 133831Nebulin 33
Repeat1346 – 137631Nebulin 34
Repeat1381 – 141131Nebulin 35
Repeat1412 – 144231Nebulin 36
Repeat1448 – 147831Nebulin 37
Repeat1481 – 151131Nebulin 38
Repeat1516 – 154631Nebulin 39
Repeat1552 – 158231Nebulin 40
Repeat1590 – 162031Nebulin 41
Repeat1625 – 165531Nebulin 42
Repeat1656 – 168631Nebulin 43
Repeat1692 – 172231Nebulin 44
Repeat1725 – 175531Nebulin 45
Repeat1760 – 179031Nebulin 46
Repeat1796 – 182631Nebulin 47
Repeat1834 – 186431Nebulin 48
Repeat1869 – 189931Nebulin 49
Repeat1900 – 193031Nebulin 50
Repeat1936 – 196631Nebulin 51
Repeat1969 – 199931Nebulin 52
Repeat2004 – 203431Nebulin 53
Repeat2040 – 207031Nebulin 54
Repeat2078 – 210831Nebulin 55
Repeat2113 – 214331Nebulin 56
Repeat2144 – 217431Nebulin 57
Repeat2180 – 221031Nebulin 58
Repeat2213 – 224331Nebulin 59
Repeat2248 – 227831Nebulin 60
Repeat2284 – 231431Nebulin 61
Repeat2322 – 235231Nebulin 62
Repeat2357 – 238731Nebulin 63
Repeat2388 – 241831Nebulin 64
Repeat2423 – 245331Nebulin 65
Repeat2456 – 248631Nebulin 66
Repeat2491 – 252131Nebulin 67
Repeat2527 – 255731Nebulin 68
Repeat2565 – 259531Nebulin 69
Repeat2600 – 263031Nebulin 70
Repeat2631 – 266131Nebulin 71
Repeat2666 – 269631Nebulin 72
Repeat2699 – 272931Nebulin 73
Repeat2734 – 276431Nebulin 74
Repeat2770 – 280031Nebulin 75
Repeat2808 – 283831Nebulin 76
Repeat2843 – 287331Nebulin 77
Repeat2874 – 290431Nebulin 78
Repeat2909 – 293931Nebulin 79
Repeat2942 – 297231Nebulin 80
Repeat2977 – 300731Nebulin 81
Repeat3013 – 304331Nebulin 82
Repeat3051 – 308131Nebulin 83
Repeat3086 – 311631Nebulin 84
Repeat3117 – 314731Nebulin 85
Repeat3152 – 318231Nebulin 86
Repeat3185 – 321531Nebulin 87
Repeat3220 – 325031Nebulin 88
Repeat3256 – 328631Nebulin 89
Repeat3294 – 332431Nebulin 90
Repeat3329 – 335931Nebulin 91
Repeat3360 – 339031Nebulin 92
Repeat3395 – 342531Nebulin 93
Repeat3428 – 345831Nebulin 94
Repeat3463 – 349331Nebulin 95
Repeat3499 – 352931Nebulin 96
Repeat3537 – 356731Nebulin 97
Repeat3572 – 360231Nebulin 98
Repeat3603 – 363331Nebulin 99
Repeat3638 – 366831Nebulin 100
Repeat3671 – 370131Nebulin 101
Repeat3706 – 373631Nebulin 102
Repeat3742 – 377231Nebulin 103
Repeat3780 – 381031Nebulin 104
Repeat3815 – 384531Nebulin 105
Repeat3846 – 387631Nebulin 106
Repeat3914 – 394431Nebulin 107
Repeat3949 – 397931Nebulin 108
Repeat3984 – 401431Nebulin 109
Repeat4021 – 405232Nebulin 110
Repeat4057 – 408731Nebulin 111
Repeat4088 – 411831Nebulin 112
Repeat4123 – 415331Nebulin 113
Repeat4156 – 418631Nebulin 114
Repeat4191 – 422030Nebulin 115
Repeat4226 – 425631Nebulin 116
Repeat4264 – 429431Nebulin 117
Repeat4299 – 432931Nebulin 118
Repeat4330 – 436031Nebulin 119
Repeat4365 – 439531Nebulin 120
Repeat4400 – 443031Nebulin 121
Repeat4435 – 446531Nebulin 122
Repeat4471 – 450131Nebulin 123
Repeat4544 – 457431Nebulin 124
Repeat4575 – 460531Nebulin 125
Repeat4610 – 464031Nebulin 126
Repeat4645 – 467531Nebulin 127
Repeat4680 – 471031Nebulin 128
Repeat4716 – 474631Nebulin 129
Repeat4754 – 478431Nebulin 130
Repeat4789 – 481931Nebulin 131
Repeat4820 – 485031Nebulin 132
Repeat4855 – 488531Nebulin 133
Repeat4890 – 492031Nebulin 134
Repeat4926 – 495631Nebulin 135
Repeat4961 – 499131Nebulin 136
Repeat4997 – 502731Nebulin 137
Repeat5032 – 506231Nebulin 138
Repeat5067 – 509731Nebulin 139
Repeat5137 – 516731Nebulin 140
Repeat5172 – 520231Nebulin 141
Repeat5207 – 523731Nebulin 142
Repeat5242 – 527231Nebulin 143
Repeat5277 – 530731Nebulin 144
Repeat5312 – 534231Nebulin 145
Repeat5347 – 537731Nebulin 146
Repeat5382 – 541231Nebulin 147
Repeat5417 – 544731Nebulin 148
Repeat5452 – 548231Nebulin 149
Repeat5488 – 551831Nebulin 150
Repeat5523 – 555331Nebulin 151
Repeat5558 – 558831Nebulin 152
Repeat5593 – 562331Nebulin 153
Repeat5628 – 565831Nebulin 154
Repeat5665 – 569531Nebulin 155
Repeat5702 – 573231Nebulin 156
Repeat5736 – 576631Nebulin 157
Repeat5771 – 580131Nebulin 158
Repeat5808 – 583831Nebulin 159
Repeat5843 – 587331Nebulin 160
Repeat5878 – 590831Nebulin 161
Repeat5911 – 594333Nebulin 162
Repeat5950 – 598031Nebulin 163
Repeat5987 – 601731Nebulin 164
Repeat6025 – 605531Nebulin 165
Repeat6060 – 609031Nebulin 166
Repeat6095 – 612531Nebulin 167
Repeat6130 – 616031Nebulin 168
Repeat6161 – 619131Nebulin 169
Repeat6192 – 622231Nebulin 170
Repeat6223 – 625331Nebulin 171
Repeat6255 – 628430Nebulin 172
Repeat6285 – 631531Nebulin 173
Repeat6316 – 634631Nebulin 174
Repeat6347 – 637731Nebulin 175
Repeat6378 – 640831Nebulin 176
Repeat6414 – 644431Nebulin 177
Repeat6449 – 647931Nebulin 178
Domain6610 – 666960SH3
Region6457 – 6612156Interaction with SVIL

Natural variations

Natural variant1461T → A.
Corresponds to variant rs4077109 [ dbSNP | Ensembl ].
VAR_047692
Natural variant1911E → Q.
Corresponds to variant rs35686968 [ dbSNP | Ensembl ].
VAR_047693
Natural variant10271K → N. Ref.1
Corresponds to variant rs6735208 [ dbSNP | Ensembl ].
VAR_047694
Natural variant13011Y → H. Ref.1
Corresponds to variant rs6711382 [ dbSNP | Ensembl ].
VAR_047695
Natural variant14691E → D.
Corresponds to variant rs34800215 [ dbSNP | Ensembl ].
VAR_047696
Natural variant14791V → I.
Corresponds to variant rs34577613 [ dbSNP | Ensembl ].
VAR_047697
Natural variant14911V → M. Ref.1
Corresponds to variant rs7426114 [ dbSNP | Ensembl ].
VAR_047698
Natural variant19691Y → H.
Corresponds to variant rs34532796 [ dbSNP | Ensembl ].
VAR_047699
Natural variant26131K → N.
Corresponds to variant rs13013209 [ dbSNP | Ensembl ].
VAR_047700
Natural variant27731R → Q.
Corresponds to variant rs35974308 [ dbSNP | Ensembl ].
VAR_047701
Natural variant29121S → P.
Corresponds to variant rs6713162 [ dbSNP | Ensembl ].
VAR_047702
Natural variant29521V → G.
Corresponds to variant rs13024542 [ dbSNP | Ensembl ].
VAR_047703
Natural variant33601W → C. Ref.1
Corresponds to variant rs10172023 [ dbSNP | Ensembl ].
VAR_047704
Natural variant38871S → T.
Corresponds to variant rs35227368 [ dbSNP | Ensembl ].
VAR_047705
Natural variant42711P → L.
Corresponds to variant rs4327235 [ dbSNP | Ensembl ].
VAR_047706
Natural variant43371N → S.
Corresponds to variant rs16830236 [ dbSNP | Ensembl ].
VAR_047707
Natural variant44011R → T. Ref.1
Corresponds to variant rs2288210 [ dbSNP | Ensembl ].
VAR_047708
Natural variant50301D → V.
Corresponds to variant rs2288200 [ dbSNP | Ensembl ].
VAR_024240
Natural variant54631R → P.
Corresponds to variant rs16830171 [ dbSNP | Ensembl ].
VAR_047709
Natural variant59341G → E.
Corresponds to variant rs3732309 [ dbSNP | Ensembl ].
VAR_021888
Natural variant61311T → I.
Corresponds to variant rs34368668 [ dbSNP | Ensembl ].
VAR_056953
Natural variant65461I → V. Ref.1
Corresponds to variant rs1061305 [ dbSNP | Ensembl ].
VAR_056954

Experimental info

Sequence conflict7271E → D in CAA58788. Ref.1
Sequence conflict7811K → R in CAA58788. Ref.1
Sequence conflict12901N → S in CAA58788. Ref.1
Sequence conflict13051A → R in CAA58788. Ref.1
Sequence conflict13891S → T in CAA58788. Ref.1
Sequence conflict15491A → R in CAA58788. Ref.1
Sequence conflict19391P → L in AAA59917. Ref.4
Sequence conflict20231M → I in CAA58788. Ref.1
Sequence conflict26131K → Y in CAA58788. Ref.1
Sequence conflict37961G → E in CAA58788. Ref.1
Sequence conflict38381D → Y in CAA58788. Ref.1
Sequence conflict50381T → P in CAA58788. Ref.1
Sequence conflict51321K → E in CAA58788. Ref.1
Sequence conflict5432 – 54332AG → RS in CAA58788. Ref.1
Sequence conflict62891A → P in CAA58788. Ref.1

Secondary structure

............... 6669
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P20929 [UniParc].

Last modified November 30, 2010. Version 4.
Checksum: C1073801C04C3105

FASTA6,669772,927
        10         20         30         40         50         60 
MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP ALAQPALAQP 

        70         80         90        100        110        120 
ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK YKEKFEKTKG QPYASTTDTP 

       130        140        150        160        170        180 
ELRRIKKVQD QLSEVKYRMD GDVAKTICHV DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK 

       190        200        210        220        230        240 
DKYLLPPDAP ELVQAVKNTA MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV 

       250        260        270        280        290        300 
AYKKGLAEQQ AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA 

       310        320        330        340        350        360 
RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE DYEKNKGKAD 

       370        380        390        400        410        420 
YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN YCETPKFKLD TVLQNFSSDK 

       430        440        450        460        470        480 
KYKDSYLKDI LGHYVGSFED PYHSHCMKVT AQNSDKNYKA EYEEDRGKGF FPQTITQEYE 

       490        500        510        520        530        540 
AIKKLDQCKD HTYKVHPDKT KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP 

       550        560        570        580        590        600 
PDTPAFIQHK VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD 

       610        620        630        640        650        660 
YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC ETPKYQLDTQ 

       670        680        690        700        710        720 
LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN SDKSYKAEYE EDKGKCYFPQ 

       730        740        750        760        770        780 
TITQEYEAIK KLDQCKDHTY KVHPDKTKFT AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE 

       790        800        810        820        830        840 
KFKCHIPADA PQFIQHRVNA YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS 

       850        860        870        880        890        900 
DVMYKKDYEK SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML 

       910        920        930        940        950        960 
QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA DYNSWMKGCG 

       970        980        990       1000       1010       1020 
WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP ITVQSKINQA QRSDIAYKAK 

      1030       1040       1050       1060       1070       1080 
GEEIIHKYNL PPDLPQFIQA KVNAYNISEN MYKADLKDLS KKGYDLRTDA IPIRAAKAAR 

      1090       1100       1110       1120       1130       1140 
QAASDVQYKK DYEKAKGKMV GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP 

      1150       1160       1170       1180       1190       1200 
HDMFNVVAAK KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM 

      1210       1220       1230       1240       1250       1260 
KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK QNTKQVSDIL 

      1270       1280       1290       1300       1310       1320 
YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW YDLIAKGNNV LGDAIPITAA 

      1330       1340       1350       1360       1370       1380 
KASRNIASDY KYKEAYEKSK GKHVGFRSLQ DDPKLVHYMN VAKLQSDREY KKNYENTKTS 

      1390       1400       1410       1420       1430       1440 
YHTPGDMVSI TAAKMAQDVA TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY 

      1450       1460       1470       1480       1490       1500 
NSFLKGIGWI PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL 

      1510       1520       1530       1540       1550       1560 
SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK GYDLRPDAIP 

      1570       1580       1590       1600       1610       1620 
IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV HYMNVAKIQS DREYKKGYEA 

      1630       1640       1650       1660       1670       1680 
SKTKYHTPLD MVSVTAAKKS QEVATNANYR QSYHHYTLLP DALNVEHSRN AMQIQSDNLY 

      1690       1700       1710       1720       1730       1740 
KSDFTNWMKG IGWVPIESLE VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN 

      1750       1760       1770       1780       1790       1800 
KLNMDKRLYT EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP 

      1810       1820       1830       1840       1850       1860 
DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA KMQSDREYKK 

      1870       1880       1890       1900       1910       1920 
GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY NMLPDAMSFE LAKNMMQIQS 

      1930       1940       1950       1960       1970       1980 
DNQYKADYAD FMKGIGWLPL GSLEAEKNKK AMEIISEKKY RQHPDTLKYS TLMDSMNMVL 

      1990       2000       2010       2020       2030       2040 
AQNNAKIMNE HLYKQAWEAD KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY 

      2050       2060       2070       2080       2090       2100 
DLRPDAIPIK AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR 

      2110       2120       2130       2140       2150       2160 
EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA MNIELTRNMN 

      2170       2180       2190       2200       2210       2220 
RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS DQKYRQHPSN FQFKKLTDSM 

      2230       2240       2250       2260       2270       2280 
DMVLAKQNAH TMNKHLYTID WNKDKTKIHV MPDTPDILQA KQNQTLYSQK LYKLGWEEAL 

      2290       2300       2310       2320       2330       2340 
KKGYDLPVDA ISVQLAKASR DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM 

      2350       2360       2370       2380       2390       2400 
QSEREYKKDF EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA 

      2410       2420       2430       2440       2450       2460 
KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP PDRNKFTSIP 

      2470       2480       2490       2500       2510       2520 
DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI VLAKANLINT SDKLYRMGYE 

      2530       2540       2550       2560       2570       2580 
ELKRKGYDLP VDAIPIKAAK ASREIASEYK YKEGFRKQLG HHIGARNIED DPKMMWSMHV 

      2590       2600       2610       2620       2630       2640 
AKIQSDREYK KDFEKWKTKF SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV 

      2650       2660       2670       2680       2690       2700 
IHARQAYDLQ SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS 

      2710       2720       2730       2740       2750       2760 
SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK VNYSEKLYKL 

      2770       2780       2790       2800       2810       2820 
GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK QLGHHIGARA IRDDPKMMWS 

      2830       2840       2850       2860       2870       2880 
MHVAKIQSDR EYKKDFEKWK TKFSSPVDML GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ 

      2890       2900       2910       2920       2930       2940 
SDVIHARQAY DLQSDNMYKS DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF 

      2950       2960       2970       2980       2990       3000 
KFTSVTDSLE QVLAKNNALN MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR QNKINYSETL 

      3010       3020       3030       3040       3050       3060 
YKLANEEAKK KGYDLRSDAI PIVAAKASRD VISDYKYKDG YRKQLGHHIG ARNIEDDPKM 

      3070       3080       3090       3100       3110       3120 
MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK CQTLVSDVDY KNYLHEWTCL 

      3130       3140       3150       3160       3170       3180 
PDQNDVIHAR QAYDLQSDNI YKSDLQWLRG IGWVPIGSMD VVKCKRAAEI LSDNIYRQPP 

      3190       3200       3210       3220       3230       3240 
DKLKFTSVTD SLEQVLAKNN ALNMNKRLYT EAWDKDKTQV HIMPDTPEIM LARQNKINYS 

      3250       3260       3270       3280       3290       3300 
ESLYRQAMEE AKKEGYDLRS DAIPIVAAKA SRDIASDYKY KEAYRKQLGH HIGARAVHDD 

      3310       3320       3330       3340       3350       3360 
PKIMWSLHIA KVQSDREYKK DFEKYKTRYS SPVDMLGIVL AKKCQTLVSD VDYKHPLHEW 

      3370       3380       3390       3400       3410       3420 
ICLPDQNDII HARKAYDLQS DNLYKSDLEW MKGIGWVPID SLEVVRAKRA GELLSDTIYR 

      3430       3440       3450       3460       3470       3480 
QRPETLKFTS ITDTPEQVLA KNNALNMNKR LYTEAWDNDK KTIHVMPDTP EIMLAKLNRI 

      3490       3500       3510       3520       3530       3540 
NYSDKLYKLA LEESKKEGYD LRLDAIPIQA AKASRDIASD YKYKEGYRKQ LGHHIGARNI 

      3550       3560       3570       3580       3590       3600 
KDDPKMMWSI HVAKIQSDRE YKKEFEKWKT KFSSPVDMLG VVLAKKCQIL VSDIDYKHPL 

      3610       3620       3630       3640       3650       3660 
HEWTCLPDQN DVIQARKAYD LQSDAIYKSD LEWLRGIGWV PIGSVEVEKV KRAGEILSDR 

      3670       3680       3690       3700       3710       3720 
KYRQPADQLK FTCITDTPEI VLAKNNALTM SKHLYTEAWD ADKTSIHVMP DTPDILLAKS 

      3730       3740       3750       3760       3770       3780 
NSANISQKLY TKGWDESKMK DYDLRADAIS IKSAKASRDI ASDYKYKEAY EKQKGHHIGA 

      3790       3800       3810       3820       3830       3840 
QSIEDDPKIM CAIHAGKIQS EREYKKEFQK WKTKFSSPVD MLSILLAKKC QTLVTDIDYR 

      3850       3860       3870       3880       3890       3900 
NYLHEWTCMP DQNDIIQAKK AYDLQSDALY KADLEWLRGI GWMPQGSPEV LRVKNAQNIF 

      3910       3920       3930       3940       3950       3960 
CDSVYRTPVV NLKYTSIVDT PEVVLAKSNA ENISIPKYRE VWDKDKTSIH IMPDTPEINL 

      3970       3980       3990       4000       4010       4020 
ARANALNVSN KLYREGWDEM KAGCDVRLDA IPIQAAKASR EIASDYKYKL DHEKQKGHYV 

      4030       4040       4050       4060       4070       4080 
GTLTARDDNK IRWALIADKL QNEREYRLDW AKWKAKIQSP VDMLSILHSK NSQALVSDMD 

      4090       4100       4110       4120       4130       4140 
YRNYLHQWTC MPDQNDVIQA KKAYELQSDN VYKADLEWLR GIGWMPNDSV SVNHAKHAAD 

      4150       4160       4170       4180       4190       4200 
IFSEKKYRTK IETLNFTPVD DRVDYVTAKQ SGEILDDIKY RKDWNATKSK YTLTETPLLH 

      4210       4220       4230       4240       4250       4260 
TAQEAARILD QYLYKEGWER QKATGYILPP DAVPFVHAHH CNDVQSELKY KAEHVKQKGH 

      4270       4280       4290       4300       4310       4320 
YVGVPTMRDD PKLVWFEHAG QIQNERLYKE DYHKTKAKIN IPADMVSVLA AKQGQTLVSD 

      4330       4340       4350       4360       4370       4380 
IDYRNYLHQW MCHPDQNDVI QARKAYDLQS DNVYRADLEW LRGIGWIPLD SVDHVRVTKN 

      4390       4400       4410       4420       4430       4440 
QEMMSQIKYK KNALENYPNF RSVVDPPEIV LAKINSVNQS DVKYKETFNK AKGKYTFSPD 

      4450       4460       4470       4480       4490       4500 
TPHISHSKDM GKLYSTILYK GAWEGTKAYG YTLDERYIPI VGAKHADLVN SELKYKETYE 

      4510       4520       4530       4540       4550       4560 
KQKGHYLAGK VIGEFPGVVH CLDFQKMRSA LNYRKHYEDT KANVHIPNDM MNHVLAKRCQ 

      4570       4580       4590       4600       4610       4620 
YILSDLEYRH YFHQWTSLLE EPNVIRVRNA QEILSDNVYK DDLNWLKGIG CYVWDTPQIL 

      4630       4640       4650       4660       4670       4680 
HAKKSYDLQS QLQYTAAGKE NLQNYNLVTD TPLYVTAVQS GINASEVKYK ENYHQIKDKY 

      4690       4700       4710       4720       4730       4740 
TTVLETVDYD RTRNLKNLYS SNLYKEAWDR VKATSYILPS STLSLTHAKN QKHLASHIKY 

      4750       4760       4770       4780       4790       4800 
REEYEKFKAL YTLPRSVDDD PNTARCLRVG KLNIDRLYRS VYEKNKMKIH IVPDMVEMVT 

      4810       4820       4830       4840       4850       4860 
AKDSQKKVSE IDYRLRLHEW ICHPDLQVND HVRKVTDQIS DIVYKDDLNW LKGIGCYVWD 

      4870       4880       4890       4900       4910       4920 
TPEILHAKHA YDLRDDIKYK AHMLKTRNDY KLVTDTPVYV QAVKSGKQLS DAVYHYDYVH 

      4930       4940       4950       4960       4970       4980 
SVRGKVAPTT KTVDLDRALH AYKLQSSNLY KTSLRTLPTG YRLPGDTPHF KHIKDTRYMS 

      4990       5000       5010       5020       5030       5040 
SYFKYKEAYE HTKAYGYTLG PKDVPFVHVR RVNNVTSERL YRELYHKLKD KIHTTPDTPE 

      5050       5060       5070       5080       5090       5100 
IRQVKKTQEA VSELIYKSDF FKMQGHMISL PYTPQVIHCR YVGDITSDIK YKEDLQVLKG 

      5110       5120       5130       5140       5150       5160 
FGCFLYDTPD MVRSRHLRKL WSNYLYTDKA RKMRDKYKVV LDTPEYRKVQ ELKTHLSELV 

      5170       5180       5190       5200       5210       5220 
YRAAGKKQKS IFTSVPDTPD LLRAKRGQKL QSQYLYVELA TKERPHHHAG NQTTALKHAK 

      5230       5240       5250       5260       5270       5280 
DVKDMVSEKK YKIQYEKMKD KYTPVPDTPI LIRAKRAYWN ASDLRYKETF QKTKGKYHTV 

      5290       5300       5310       5320       5330       5340 
KDALDIVYHR KVTDDISKIK YKENYMSQLG IWRSIPDRPE HFHHRAVTDT VSDVKYKEDL 

      5350       5360       5370       5380       5390       5400 
TWLKGIGCYA YDTPDFTLAE KNKTLYSKYK YKEVFERTKS DFKYVADSPI NRHFKYATQL 

      5410       5420       5430       5440       5450       5460 
MNEKKYRADY EQRKDKYHLV VDEPRHLLAK TAGDQISQIK YRKNYEKSKD KFTSIVDTPE 

      5470       5480       5490       5500       5510       5520 
HLRTTKVNKQ ISDILYKLEY NKAKPRGYTT IHDTPMLLHV RKVKDEVSDL KYKEVYQRNK 

      5530       5540       5550       5560       5570       5580 
SNCTIEPDAV HIKAAKDAYK VNTNLDYKKQ YEANKAHWKW TPDRPDFLQA AKSSLQQSDF 

      5590       5600       5610       5620       5630       5640 
EYKLDREFLK GCKLSVTDDK NTVLALRNTL IESDLKYKEK HVKERGTCHA VPDTPQILLA 

      5650       5660       5670       5680       5690       5700 
KTVSNLVSEN KYKDHVKKHL AQGSYTTLPE TRDTVHVKEV TKHVSDTNYK KKFVKEKGKS 

      5710       5720       5730       5740       5750       5760 
NYSIMLEPPE VKHAMEVAKK QSDVAYRKDA KENLHYTTVA DRPDIKKATQ AAKQASEVEY 

      5770       5780       5790       5800       5810       5820 
RAKHRKEGSH GLSMLGRPDI EMAKKAAKLS SQVKYRENFD KEKGKTPKYN PKDSQLYKVM 

      5830       5840       5850       5860       5870       5880 
KDANNLASEV KYKADLKKLH KPVTDMKESL IMNHVLNTSQ LASSYQYKKK YEKSKGHYHT 

      5890       5900       5910       5920       5930       5940 
IPDNLEQLHL KEATELQSIV KYKEKYEKER GKPMLDFETP TYITAKESQQ MQSGKEYRKD 

      5950       5960       5970       5980       5990       6000 
YEESIKGRNL TGLEVTPALL HVKYATKIAS EKEYRKDLEE SIRGKGLTEM EDTPDMLRAK 

      6010       6020       6030       6040       6050       6060 
NATQILNEKE YKRDLELEVK GRGLNAMANE TPDFMRARNA TDIASQIKYK QSAEMEKANF 

      6070       6080       6090       6100       6110       6120 
TSVVDTPEII HAQQVKNLSS QKKYKEDAEK SMSYYETVLD TPEIQRVREN QKNFSLLQYQ 

      6130       6140       6150       6160       6170       6180 
CDLKNSKGKI TVVQDTPEIL RVKENQKNFS SVLYKEDVSP GTAIGKTPEM MRVKQTQDHI 

      6190       6200       6210       6220       6230       6240 
SSVKYKEAIG QGTPIPDLPE VKRVKETQKH ISSVMYKENL GTGIPTTVTP EIERVKRNQE 

      6250       6260       6270       6280       6290       6300 
NFSSVLYKEN LGKGIPTPIT PEMERVKRNQ ENFSSVLYKE NMGKGTPLAV TPEMERVKHN 

      6310       6320       6330       6340       6350       6360 
QENISSVLYK ENVGKATATP VTPEMQRVKR NQENISSVLY KENLGKATPT PFTPEMERVK 

      6370       6380       6390       6400       6410       6420 
RNQENFSSVL YKENMRKATP TPVTPEMERA KRNQENISSV LYSDSFRKQI QGKAAYVLDT 

      6430       6440       6450       6460       6470       6480 
PEMRRVRETQ RHISTVKYHE DFEKHKGCFT PVVTDPITER VKKNMQDFSD INYRGIQRKV 

      6490       6500       6510       6520       6530       6540 
VEMEQKRNDQ DQETITGLRV WRTNPGSVFD YDPAEDNIQS RSLHMINVQA QRRSREQSRS 

      6550       6560       6570       6580       6590       6600 
ASALSISGGE EKSEHSEAPD HHLSTYSDGG VFAVSTAYKH AKTTELPQQR SSSVATQQTT 

      6610       6620       6630       6640       6650       6660 
VSSIPSHPST AGKIFRAMYD YMAADADEVS FKDGDAIINV QAIDEGWMYG TVQRTGRTGM 


LPANYVEAI 

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References

« Hide 'large scale' references
[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], 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. expand/collapse author list , 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]"Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy."
Pelin K., Hilpelae P., Donner K., Sewry C., Akkari P.A., Wilton S.D., Wattanasirichaigoon D., Bang M.-L., Centner T., Hanefeld F., Odent S., Fardeau M., Urtizberea J.A., Muntoni F., Dubowitz V., Beggs A.H., Laing N.G., Labeit S., de la Chapelle A., Wallgren-Pettersson C.
Proc. Natl. Acad. Sci. U.S.A. 96:2305-2310(1999) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA29979.
B29979.
S55024.
RefSeqNP_004534.2. NM_004543.4.
UniGeneHs.588655.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1ARKNMR-A6610-6669[»]
1NEBNMR-A6610-6669[»]
ProteinModelPortalP20929.
SMRP20929. Positions 6610-6669.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110783. 16 interactions.
IntActP20929. 25 interactions.
MINTMINT-1175200.
STRING9606.ENSP00000386259.

PTM databases

PhosphoSiteP20929.

Polymorphism databases

DMDM215274128.

Proteomic databases

PaxDbP20929.
PRIDEP20929.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000409198; ENSP00000386259; ENSG00000183091.
GeneID4703.
KEGGhsa:4703.
UCSCuc010fnx.3. human.

Organism-specific databases

CTD4703.
GeneCardsGC02M152306.
HGNCHGNC:7720. NEB.
HPAHPA016601.
MIM161650. gene.
256030. phenotype.
neXtProtNX_P20929.
Orphanet171439. Childhood-onset nemaline myopathy.
171433. Intermediate nemaline myopathy.
171430. Severe congenital nemaline myopathy.
171436. Typical nemaline myopathy.
PharmGKBPA31530.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000231776.
HOVERGENHBG045595.
InParanoidP20929.
OrthoDBEOG7GFB81.

Enzyme and pathway databases

ReactomeREACT_17044. Muscle contraction.

Gene expression databases

ArrayExpressP20929.
BgeeP20929.
CleanExHS_NEB.
GenevestigatorP20929.

Family and domain databases

InterProIPR013998. Nebulin.
IPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view]
PfamPF00880. Nebulin. 113 hits.
[Graphical view]
PRINTSPR00510. NEBULIN.
SMARTSM00227. NEBU. 181 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS51216. NEBULIN. 181 hits.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNEB. human.
EvolutionaryTraceP20929.
GenomeRNAi4703.
NextBio18136.
PROP20929.
SOURCESearch...

Entry information

Entry nameNEBU_HUMAN
AccessionPrimary (citable) accession number: P20929
Secondary accession number(s): Q15346, Q53QQ2, Q53TG8
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: November 30, 2010
Last modified: March 19, 2014
This is version 140 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM