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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. 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. actin cytoskeleton Source: ProtInc
  2. cytosol Source: Reactome
  3. extracellular vesicular exosome Source: UniProt
  4. Z disc Source: UniProtKB
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

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 – 66696669NebulinPRO_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

BgeeiP20929.
CleanExiHS_NEB.
ExpressionAtlasiP20929. baseline and differential.
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. 19 interactions.
IntActiP20929. 25 interactions.
MINTiMINT-1175200.
STRINGi9606.ENSP00000386259.

Structurei

Secondary structure

1
6669
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi6615 – 66173Combined sources
Beta strandi6624 – 66285Combined sources
Beta strandi6640 – 66423Combined sources
Beta strandi6644 – 66518Combined sources
Turni6653 – 66553Combined sources
Beta strandi6658 – 66625Combined sources
Turni6663 – 66653Combined sources
Beta strandi6666 – 66683Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1ARKNMR-A6610-6669[»]
1NEBNMR-A6610-6669[»]
ProteinModelPortaliP20929.
SMRiP20929. Positions 6610-6669.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP20929.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati76 – 10732Nebulin 1Add
BLAST
Repeati113 – 14331Nebulin 2Add
BLAST
Repeati148 – 17831Nebulin 3Add
BLAST
Repeati183 – 21331Nebulin 4Add
BLAST
Repeati218 – 24831Nebulin 5Add
BLAST
Repeati253 – 28331Nebulin 6Add
BLAST
Repeati289 – 31830Nebulin 7Add
BLAST
Repeati324 – 35431Nebulin 8Add
BLAST
Repeati363 – 39331Nebulin 9Add
BLAST
Repeati398 – 42831Nebulin 10Add
BLAST
Repeati434 – 46431Nebulin 11Add
BLAST
Repeati502 – 53231Nebulin 12Add
BLAST
Repeati537 – 56731Nebulin 13Add
BLAST
Repeati573 – 60331Nebulin 14Add
BLAST
Repeati611 – 64131Nebulin 15Add
BLAST
Repeati681 – 71131Nebulin 16Add
BLAST
Repeati749 – 77931Nebulin 17Add
BLAST
Repeati784 – 81431Nebulin 18Add
BLAST
Repeati820 – 85031Nebulin 19Add
BLAST
Repeati858 – 88831Nebulin 20Add
BLAST
Repeati893 – 92331Nebulin 21Add
BLAST
Repeati924 – 95431Nebulin 22Add
BLAST
Repeati959 – 99032Nebulin 23Add
BLAST
Repeati993 – 102331Nebulin 24Add
BLAST
Repeati1028 – 105831Nebulin 25Add
BLAST
Repeati1064 – 109431Nebulin 26Add
BLAST
Repeati1102 – 113231Nebulin 27Add
BLAST
Repeati1137 – 116731Nebulin 28Add
BLAST
Repeati1168 – 119831Nebulin 29Add
BLAST
Repeati1204 – 123431Nebulin 30Add
BLAST
Repeati1237 – 126731Nebulin 31Add
BLAST
Repeati1272 – 130231Nebulin 32Add
BLAST
Repeati1308 – 133831Nebulin 33Add
BLAST
Repeati1346 – 137631Nebulin 34Add
BLAST
Repeati1381 – 141131Nebulin 35Add
BLAST
Repeati1412 – 144231Nebulin 36Add
BLAST
Repeati1448 – 147831Nebulin 37Add
BLAST
Repeati1481 – 151131Nebulin 38Add
BLAST
Repeati1516 – 154631Nebulin 39Add
BLAST
Repeati1552 – 158231Nebulin 40Add
BLAST
Repeati1590 – 162031Nebulin 41Add
BLAST
Repeati1625 – 165531Nebulin 42Add
BLAST
Repeati1656 – 168631Nebulin 43Add
BLAST
Repeati1692 – 172231Nebulin 44Add
BLAST
Repeati1725 – 175531Nebulin 45Add
BLAST
Repeati1760 – 179031Nebulin 46Add
BLAST
Repeati1796 – 182631Nebulin 47Add
BLAST
Repeati1834 – 186431Nebulin 48Add
BLAST
Repeati1869 – 189931Nebulin 49Add
BLAST
Repeati1900 – 193031Nebulin 50Add
BLAST
Repeati1936 – 196631Nebulin 51Add
BLAST
Repeati1969 – 199931Nebulin 52Add
BLAST
Repeati2004 – 203431Nebulin 53Add
BLAST
Repeati2040 – 207031Nebulin 54Add
BLAST
Repeati2078 – 210831Nebulin 55Add
BLAST
Repeati2113 – 214331Nebulin 56Add
BLAST
Repeati2144 – 217431Nebulin 57Add
BLAST
Repeati2180 – 221031Nebulin 58Add
BLAST
Repeati2213 – 224331Nebulin 59Add
BLAST
Repeati2248 – 227831Nebulin 60Add
BLAST
Repeati2284 – 231431Nebulin 61Add
BLAST
Repeati2322 – 235231Nebulin 62Add
BLAST
Repeati2357 – 238731Nebulin 63Add
BLAST
Repeati2388 – 241831Nebulin 64Add
BLAST
Repeati2423 – 245331Nebulin 65Add
BLAST
Repeati2456 – 248631Nebulin 66Add
BLAST
Repeati2491 – 252131Nebulin 67Add
BLAST
Repeati2527 – 255731Nebulin 68Add
BLAST
Repeati2565 – 259531Nebulin 69Add
BLAST
Repeati2600 – 263031Nebulin 70Add
BLAST
Repeati2631 – 266131Nebulin 71Add
BLAST
Repeati2666 – 269631Nebulin 72Add
BLAST
Repeati2699 – 272931Nebulin 73Add
BLAST
Repeati2734 – 276431Nebulin 74Add
BLAST
Repeati2770 – 280031Nebulin 75Add
BLAST
Repeati2808 – 283831Nebulin 76Add
BLAST
Repeati2843 – 287331Nebulin 77Add
BLAST
Repeati2874 – 290431Nebulin 78Add
BLAST
Repeati2909 – 293931Nebulin 79Add
BLAST
Repeati2942 – 297231Nebulin 80Add
BLAST
Repeati2977 – 300731Nebulin 81Add
BLAST
Repeati3013 – 304331Nebulin 82Add
BLAST
Repeati3051 – 308131Nebulin 83Add
BLAST
Repeati3086 – 311631Nebulin 84Add
BLAST
Repeati3117 – 314731Nebulin 85Add
BLAST
Repeati3152 – 318231Nebulin 86Add
BLAST
Repeati3185 – 321531Nebulin 87Add
BLAST
Repeati3220 – 325031Nebulin 88Add
BLAST
Repeati3256 – 328631Nebulin 89Add
BLAST
Repeati3294 – 332431Nebulin 90Add
BLAST
Repeati3329 – 335931Nebulin 91Add
BLAST
Repeati3360 – 339031Nebulin 92Add
BLAST
Repeati3395 – 342531Nebulin 93Add
BLAST
Repeati3428 – 345831Nebulin 94Add
BLAST
Repeati3463 – 349331Nebulin 95Add
BLAST
Repeati3499 – 352931Nebulin 96Add
BLAST
Repeati3537 – 356731Nebulin 97Add
BLAST
Repeati3572 – 360231Nebulin 98Add
BLAST
Repeati3603 – 363331Nebulin 99Add
BLAST
Repeati3638 – 366831Nebulin 100Add
BLAST
Repeati3671 – 370131Nebulin 101Add
BLAST
Repeati3706 – 373631Nebulin 102Add
BLAST
Repeati3742 – 377231Nebulin 103Add
BLAST
Repeati3780 – 381031Nebulin 104Add
BLAST
Repeati3815 – 384531Nebulin 105Add
BLAST
Repeati3846 – 387631Nebulin 106Add
BLAST
Repeati3914 – 394431Nebulin 107Add
BLAST
Repeati3949 – 397931Nebulin 108Add
BLAST
Repeati3984 – 401431Nebulin 109Add
BLAST
Repeati4021 – 405232Nebulin 110Add
BLAST
Repeati4057 – 408731Nebulin 111Add
BLAST
Repeati4088 – 411831Nebulin 112Add
BLAST
Repeati4123 – 415331Nebulin 113Add
BLAST
Repeati4156 – 418631Nebulin 114Add
BLAST
Repeati4191 – 422030Nebulin 115Add
BLAST
Repeati4226 – 425631Nebulin 116Add
BLAST
Repeati4264 – 429431Nebulin 117Add
BLAST
Repeati4299 – 432931Nebulin 118Add
BLAST
Repeati4330 – 436031Nebulin 119Add
BLAST
Repeati4365 – 439531Nebulin 120Add
BLAST
Repeati4400 – 443031Nebulin 121Add
BLAST
Repeati4435 – 446531Nebulin 122Add
BLAST
Repeati4471 – 450131Nebulin 123Add
BLAST
Repeati4544 – 457431Nebulin 124Add
BLAST
Repeati4575 – 460531Nebulin 125Add
BLAST
Repeati4610 – 464031Nebulin 126Add
BLAST
Repeati4645 – 467531Nebulin 127Add
BLAST
Repeati4680 – 471031Nebulin 128Add
BLAST
Repeati4716 – 474631Nebulin 129Add
BLAST
Repeati4754 – 478431Nebulin 130Add
BLAST
Repeati4789 – 481931Nebulin 131Add
BLAST
Repeati4820 – 485031Nebulin 132Add
BLAST
Repeati4855 – 488531Nebulin 133Add
BLAST
Repeati4890 – 492031Nebulin 134Add
BLAST
Repeati4926 – 495631Nebulin 135Add
BLAST
Repeati4961 – 499131Nebulin 136Add
BLAST
Repeati4997 – 502731Nebulin 137Add
BLAST
Repeati5032 – 506231Nebulin 138Add
BLAST
Repeati5067 – 509731Nebulin 139Add
BLAST
Repeati5137 – 516731Nebulin 140Add
BLAST
Repeati5172 – 520231Nebulin 141Add
BLAST
Repeati5207 – 523731Nebulin 142Add
BLAST
Repeati5242 – 527231Nebulin 143Add
BLAST
Repeati5277 – 530731Nebulin 144Add
BLAST
Repeati5312 – 534231Nebulin 145Add
BLAST
Repeati5347 – 537731Nebulin 146Add
BLAST
Repeati5382 – 541231Nebulin 147Add
BLAST
Repeati5417 – 544731Nebulin 148Add
BLAST
Repeati5452 – 548231Nebulin 149Add
BLAST
Repeati5488 – 551831Nebulin 150Add
BLAST
Repeati5523 – 555331Nebulin 151Add
BLAST
Repeati5558 – 558831Nebulin 152Add
BLAST
Repeati5593 – 562331Nebulin 153Add
BLAST
Repeati5628 – 565831Nebulin 154Add
BLAST
Repeati5665 – 569531Nebulin 155Add
BLAST
Repeati5702 – 573231Nebulin 156Add
BLAST
Repeati5736 – 576631Nebulin 157Add
BLAST
Repeati5771 – 580131Nebulin 158Add
BLAST
Repeati5808 – 583831Nebulin 159Add
BLAST
Repeati5843 – 587331Nebulin 160Add
BLAST
Repeati5878 – 590831Nebulin 161Add
BLAST
Repeati5911 – 594333Nebulin 162Add
BLAST
Repeati5950 – 598031Nebulin 163Add
BLAST
Repeati5987 – 601731Nebulin 164Add
BLAST
Repeati6025 – 605531Nebulin 165Add
BLAST
Repeati6060 – 609031Nebulin 166Add
BLAST
Repeati6095 – 612531Nebulin 167Add
BLAST
Repeati6130 – 616031Nebulin 168Add
BLAST
Repeati6161 – 619131Nebulin 169Add
BLAST
Repeati6192 – 622231Nebulin 170Add
BLAST
Repeati6223 – 625331Nebulin 171Add
BLAST
Repeati6255 – 628430Nebulin 172Add
BLAST
Repeati6285 – 631531Nebulin 173Add
BLAST
Repeati6316 – 634631Nebulin 174Add
BLAST
Repeati6347 – 637731Nebulin 175Add
BLAST
Repeati6378 – 640831Nebulin 176Add
BLAST
Repeati6414 – 644431Nebulin 177Add
BLAST
Repeati6449 – 647931Nebulin 178Add
BLAST
Domaini6610 – 666960SH3PROSITE-ProRule annotationAdd
BLAST

Region

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

Sequence similaritiesi

Contains 178 nebulin repeats.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00530000062924.
HOGENOMiHOG000231776.
HOVERGENiHBG045595.
InParanoidiP20929.
KOiK18267.
OrthoDBiEOG7GFB81.
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

        10         20         30         40         50
MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP
60 70 80 90 100
ALAQPALAQP ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK
110 120 130 140 150
YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV
160 170 180 190 200
DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA
210 220 230 240 250
MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ
260 270 280 290 300
AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA
310 320 330 340 350
RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE
360 370 380 390 400
DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN
410 420 430 440 450
YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT
460 470 480 490 500
AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT
510 520 530 540 550
KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK
560 570 580 590 600
VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD
610 620 630 640 650
YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC
660 670 680 690 700
ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN
710 720 730 740 750
SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT
760 770 780 790 800
AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA
810 820 830 840 850
YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK
860 870 880 890 900
SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML
910 920 930 940 950
QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA
960 970 980 990 1000
DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP
1010 1020 1030 1040 1050
ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN
1060 1070 1080 1090 1100
MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV
1110 1120 1130 1140 1150
GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK
1160 1170 1180 1190 1200
KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM
1210 1220 1230 1240 1250
KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK
1260 1270 1280 1290 1300
QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW
1310 1320 1330 1340 1350
YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ
1360 1370 1380 1390 1400
DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA
1410 1420 1430 1440 1450
TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI
1460 1470 1480 1490 1500
PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL
1510 1520 1530 1540 1550
SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK
1560 1570 1580 1590 1600
GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV
1610 1620 1630 1640 1650
HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR
1660 1670 1680 1690 1700
QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE
1710 1720 1730 1740 1750
VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT
1760 1770 1780 1790 1800
EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP
1810 1820 1830 1840 1850
DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA
1860 1870 1880 1890 1900
KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY
1910 1920 1930 1940 1950
NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK
1960 1970 1980 1990 2000
AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD
2010 2020 2030 2040 2050
KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK
2060 2070 2080 2090 2100
AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR
2110 2120 2130 2140 2150
EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA
2160 2170 2180 2190 2200
MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS
2210 2220 2230 2240 2250
DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV
2260 2270 2280 2290 2300
MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR
2310 2320 2330 2340 2350
DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF
2360 2370 2380 2390 2400
EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA
2410 2420 2430 2440 2450
KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP
2460 2470 2480 2490 2500
PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI
2510 2520 2530 2540 2550
VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK
2560 2570 2580 2590 2600
YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF
2610 2620 2630 2640 2650
SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ
2660 2670 2680 2690 2700
SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS
2710 2720 2730 2740 2750
SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK
2760 2770 2780 2790 2800
VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK
2810 2820 2830 2840 2850
QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML
2860 2870 2880 2890 2900
GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS
2910 2920 2930 2940 2950
DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE
2960 2970 2980 2990 3000
QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR QNKINYSETL
3010 3020 3030 3040 3050
YKLANEEAKK KGYDLRSDAI PIVAAKASRD VISDYKYKDG YRKQLGHHIG
3060 3070 3080 3090 3100
ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK
3110 3120 3130 3140 3150
CQTLVSDVDY KNYLHEWTCL PDQNDVIHAR QAYDLQSDNI YKSDLQWLRG
3160 3170 3180 3190 3200
IGWVPIGSMD VVKCKRAAEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN
3210 3220 3230 3240 3250
ALNMNKRLYT EAWDKDKTQV HIMPDTPEIM LARQNKINYS ESLYRQAMEE
3260 3270 3280 3290 3300
AKKEGYDLRS DAIPIVAAKA SRDIASDYKY KEAYRKQLGH HIGARAVHDD
3310 3320 3330 3340 3350
PKIMWSLHIA KVQSDREYKK DFEKYKTRYS SPVDMLGIVL AKKCQTLVSD
3360 3370 3380 3390 3400
VDYKHPLHEW ICLPDQNDII HARKAYDLQS DNLYKSDLEW MKGIGWVPID
3410 3420 3430 3440 3450
SLEVVRAKRA GELLSDTIYR QRPETLKFTS ITDTPEQVLA KNNALNMNKR
3460 3470 3480 3490 3500
LYTEAWDNDK KTIHVMPDTP EIMLAKLNRI NYSDKLYKLA LEESKKEGYD
3510 3520 3530 3540 3550
LRLDAIPIQA AKASRDIASD YKYKEGYRKQ LGHHIGARNI KDDPKMMWSI
3560 3570 3580 3590 3600
HVAKIQSDRE YKKEFEKWKT KFSSPVDMLG VVLAKKCQIL VSDIDYKHPL
3610 3620 3630 3640 3650
HEWTCLPDQN DVIQARKAYD LQSDAIYKSD LEWLRGIGWV PIGSVEVEKV
3660 3670 3680 3690 3700
KRAGEILSDR KYRQPADQLK FTCITDTPEI VLAKNNALTM SKHLYTEAWD
3710 3720 3730 3740 3750
ADKTSIHVMP DTPDILLAKS NSANISQKLY TKGWDESKMK DYDLRADAIS
3760 3770 3780 3790 3800
IKSAKASRDI ASDYKYKEAY EKQKGHHIGA QSIEDDPKIM CAIHAGKIQS
3810 3820 3830 3840 3850
EREYKKEFQK WKTKFSSPVD MLSILLAKKC QTLVTDIDYR NYLHEWTCMP
3860 3870 3880 3890 3900
DQNDIIQAKK AYDLQSDALY KADLEWLRGI GWMPQGSPEV LRVKNAQNIF
3910 3920 3930 3940 3950
CDSVYRTPVV NLKYTSIVDT PEVVLAKSNA ENISIPKYRE VWDKDKTSIH
3960 3970 3980 3990 4000
IMPDTPEINL ARANALNVSN KLYREGWDEM KAGCDVRLDA IPIQAAKASR
4010 4020 4030 4040 4050
EIASDYKYKL DHEKQKGHYV GTLTARDDNK IRWALIADKL QNEREYRLDW
4060 4070 4080 4090 4100
AKWKAKIQSP VDMLSILHSK NSQALVSDMD YRNYLHQWTC MPDQNDVIQA
4110 4120 4130 4140 4150
KKAYELQSDN VYKADLEWLR GIGWMPNDSV SVNHAKHAAD IFSEKKYRTK
4160 4170 4180 4190 4200
IETLNFTPVD DRVDYVTAKQ SGEILDDIKY RKDWNATKSK YTLTETPLLH
4210 4220 4230 4240 4250
TAQEAARILD QYLYKEGWER QKATGYILPP DAVPFVHAHH CNDVQSELKY
4260 4270 4280 4290 4300
KAEHVKQKGH YVGVPTMRDD PKLVWFEHAG QIQNERLYKE DYHKTKAKIN
4310 4320 4330 4340 4350
IPADMVSVLA AKQGQTLVSD IDYRNYLHQW MCHPDQNDVI QARKAYDLQS
4360 4370 4380 4390 4400
DNVYRADLEW LRGIGWIPLD SVDHVRVTKN QEMMSQIKYK KNALENYPNF
4410 4420 4430 4440 4450
RSVVDPPEIV LAKINSVNQS DVKYKETFNK AKGKYTFSPD TPHISHSKDM
4460 4470 4480 4490 4500
GKLYSTILYK GAWEGTKAYG YTLDERYIPI VGAKHADLVN SELKYKETYE
4510 4520 4530 4540 4550
KQKGHYLAGK VIGEFPGVVH CLDFQKMRSA LNYRKHYEDT KANVHIPNDM
4560 4570 4580 4590 4600
MNHVLAKRCQ YILSDLEYRH YFHQWTSLLE EPNVIRVRNA QEILSDNVYK
4610 4620 4630 4640 4650
DDLNWLKGIG CYVWDTPQIL HAKKSYDLQS QLQYTAAGKE NLQNYNLVTD
4660 4670 4680 4690 4700
TPLYVTAVQS GINASEVKYK ENYHQIKDKY TTVLETVDYD RTRNLKNLYS
4710 4720 4730 4740 4750
SNLYKEAWDR VKATSYILPS STLSLTHAKN QKHLASHIKY REEYEKFKAL
4760 4770 4780 4790 4800
YTLPRSVDDD PNTARCLRVG KLNIDRLYRS VYEKNKMKIH IVPDMVEMVT
4810 4820 4830 4840 4850
AKDSQKKVSE IDYRLRLHEW ICHPDLQVND HVRKVTDQIS DIVYKDDLNW
4860 4870 4880 4890 4900
LKGIGCYVWD TPEILHAKHA YDLRDDIKYK AHMLKTRNDY KLVTDTPVYV
4910 4920 4930 4940 4950
QAVKSGKQLS DAVYHYDYVH SVRGKVAPTT KTVDLDRALH AYKLQSSNLY
4960 4970 4980 4990 5000
KTSLRTLPTG YRLPGDTPHF KHIKDTRYMS SYFKYKEAYE HTKAYGYTLG
5010 5020 5030 5040 5050
PKDVPFVHVR RVNNVTSERL YRELYHKLKD KIHTTPDTPE IRQVKKTQEA
5060 5070 5080 5090 5100
VSELIYKSDF FKMQGHMISL PYTPQVIHCR YVGDITSDIK YKEDLQVLKG
5110 5120 5130 5140 5150
FGCFLYDTPD MVRSRHLRKL WSNYLYTDKA RKMRDKYKVV LDTPEYRKVQ
5160 5170 5180 5190 5200
ELKTHLSELV YRAAGKKQKS IFTSVPDTPD LLRAKRGQKL QSQYLYVELA
5210 5220 5230 5240 5250
TKERPHHHAG NQTTALKHAK DVKDMVSEKK YKIQYEKMKD KYTPVPDTPI
5260 5270 5280 5290 5300
LIRAKRAYWN ASDLRYKETF QKTKGKYHTV KDALDIVYHR KVTDDISKIK
5310 5320 5330 5340 5350
YKENYMSQLG IWRSIPDRPE HFHHRAVTDT VSDVKYKEDL TWLKGIGCYA
5360 5370 5380 5390 5400
YDTPDFTLAE KNKTLYSKYK YKEVFERTKS DFKYVADSPI NRHFKYATQL
5410 5420 5430 5440 5450
MNEKKYRADY EQRKDKYHLV VDEPRHLLAK TAGDQISQIK YRKNYEKSKD
5460 5470 5480 5490 5500
KFTSIVDTPE HLRTTKVNKQ ISDILYKLEY NKAKPRGYTT IHDTPMLLHV
5510 5520 5530 5540 5550
RKVKDEVSDL KYKEVYQRNK SNCTIEPDAV HIKAAKDAYK VNTNLDYKKQ
5560 5570 5580 5590 5600
YEANKAHWKW TPDRPDFLQA AKSSLQQSDF EYKLDREFLK GCKLSVTDDK
5610 5620 5630 5640 5650
NTVLALRNTL IESDLKYKEK HVKERGTCHA VPDTPQILLA KTVSNLVSEN
5660 5670 5680 5690 5700
KYKDHVKKHL AQGSYTTLPE TRDTVHVKEV TKHVSDTNYK KKFVKEKGKS
5710 5720 5730 5740 5750
NYSIMLEPPE VKHAMEVAKK QSDVAYRKDA KENLHYTTVA DRPDIKKATQ
5760 5770 5780 5790 5800
AAKQASEVEY RAKHRKEGSH GLSMLGRPDI EMAKKAAKLS SQVKYRENFD
5810 5820 5830 5840 5850
KEKGKTPKYN PKDSQLYKVM KDANNLASEV KYKADLKKLH KPVTDMKESL
5860 5870 5880 5890 5900
IMNHVLNTSQ LASSYQYKKK YEKSKGHYHT IPDNLEQLHL KEATELQSIV
5910 5920 5930 5940 5950
KYKEKYEKER GKPMLDFETP TYITAKESQQ MQSGKEYRKD YEESIKGRNL
5960 5970 5980 5990 6000
TGLEVTPALL HVKYATKIAS EKEYRKDLEE SIRGKGLTEM EDTPDMLRAK
6010 6020 6030 6040 6050
NATQILNEKE YKRDLELEVK GRGLNAMANE TPDFMRARNA TDIASQIKYK
6060 6070 6080 6090 6100
QSAEMEKANF TSVVDTPEII HAQQVKNLSS QKKYKEDAEK SMSYYETVLD
6110 6120 6130 6140 6150
TPEIQRVREN QKNFSLLQYQ CDLKNSKGKI TVVQDTPEIL RVKENQKNFS
6160 6170 6180 6190 6200
SVLYKEDVSP GTAIGKTPEM MRVKQTQDHI SSVKYKEAIG QGTPIPDLPE
6210 6220 6230 6240 6250
VKRVKETQKH ISSVMYKENL GTGIPTTVTP EIERVKRNQE NFSSVLYKEN
6260 6270 6280 6290 6300
LGKGIPTPIT PEMERVKRNQ ENFSSVLYKE NMGKGTPLAV TPEMERVKHN
6310 6320 6330 6340 6350
QENISSVLYK ENVGKATATP VTPEMQRVKR NQENISSVLY KENLGKATPT
6360 6370 6380 6390 6400
PFTPEMERVK RNQENFSSVL YKENMRKATP TPVTPEMERA KRNQENISSV
6410 6420 6430 6440 6450
LYSDSFRKQI QGKAAYVLDT PEMRRVRETQ RHISTVKYHE DFEKHKGCFT
6460 6470 6480 6490 6500
PVVTDPITER VKKNMQDFSD INYRGIQRKV VEMEQKRNDQ DQETITGLRV
6510 6520 6530 6540 6550
WRTNPGSVFD YDPAEDNIQS RSLHMINVQA QRRSREQSRS ASALSISGGE
6560 6570 6580 6590 6600
EKSEHSEAPD HHLSTYSDGG VFAVSTAYKH AKTTELPQQR SSSVATQQTT
6610 6620 6630 6640 6650
VSSIPSHPST AGKIFRAMYD YMAADADEVS FKDGDAIINV QAIDEGWMYG
6660
TVQRTGRTGM LPANYVEAI
Length:6,669
Mass (Da):772,914
Last modified:May 14, 2014 - v5
Checksum:iAD93D9B6FB3D8161
GO
Isoform 2 (identifier: P20929-2) [UniParc]FASTAAdd to Basket

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

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

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

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

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti727 – 7271E → D in CAA58788. (PubMed:7739042)Curated
Sequence conflicti781 – 7811K → R in CAA58788. (PubMed:7739042)Curated
Sequence conflicti1290 – 12901N → S in CAA58788. (PubMed:7739042)Curated
Sequence conflicti1305 – 13051A → R in CAA58788. (PubMed:7739042)Curated
Sequence conflicti1389 – 13891S → T in CAA58788. (PubMed:7739042)Curated
Sequence conflicti1549 – 15491A → R in CAA58788. (PubMed:7739042)Curated
Sequence conflicti1939 – 19391P → L in AAA59917. (PubMed:3397062)Curated
Sequence conflicti2023 – 20231M → I in CAA58788. (PubMed:7739042)Curated
Sequence conflicti2613 – 26131K → Y in CAA58788. (PubMed:7739042)Curated
Sequence conflicti3796 – 37961G → E in CAA58788. (PubMed:7739042)Curated
Sequence conflicti3838 – 38381D → Y in CAA58788. (PubMed:7739042)Curated
Sequence conflicti5038 – 50381T → P in CAA58788. (PubMed:7739042)Curated
Sequence conflicti5132 – 51321K → E in CAA58788. (PubMed:7739042)Curated
Sequence conflicti5432 – 54332AG → RS in CAA58788. (PubMed:7739042)Curated
Sequence conflicti6289 – 62891A → P in CAA58788. (PubMed:7739042)Curated

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. 1 PublicationVSP_054444
Alternative sequencei2973 – 29731D → DKTQIHIMPDTPEIMLARMN KINYSESLYKLANEEAKKKG YDLRSDAIPIVAAKASRDII SDYKYKDGYCKQLGHHIGAR NIEDDPKMMWSMHVAKIQSD REYKKDFEKWKTKFSSPVDM LGVVLAKKCQTLVSDVDYKN YLHEWTCLPDQSDVIHARQA YDLQSDNIYKSDLQWLRGIG WVPIGSMDVVKCKRATEILS DNIYRQPPDKLKFTSVTDSL EQVLAKNNALNMNKRLYTEA WDKD in isoform 2 and isoform 3. CuratedVSP_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. CuratedVSP_054446
Alternative sequencei5404 – 543633KKYRA…AGDQI → RKYKSSAKMFLQHGCNEILR PDMLTALYNSHMW in isoform 2. CuratedVSP_054447Add
BLAST
Alternative sequencei6272 – 62732NF → NFSSILYKENLSKGTPLPVT PEMERVKLNQENFSSVLYKE NVGKGIPIPITPEMERVKHN QENFSSVLYKENLGTGIPIP ITPEMQRVKHNQENLSSVLY KENMGKGTPLPVTPEMERVK HNQENISSVLYKENMGKGTP LPVTPEMERVKHNQENI in isoform 2 and isoform 3. CuratedVSP_054448

Sequence databases

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

Genome annotation databases

EnsembliENST00000172853; ENSP00000172853; ENSG00000183091. [P20929-1]
ENST00000397345; ENSP00000380505; ENSG00000183091. [P20929-2]
ENST00000409198; ENSP00000386259; ENSG00000183091. [P20929-4]
ENST00000427231; ENSP00000416578; ENSG00000183091. [P20929-3]
ENST00000603639; ENSP00000473894; ENSG00000183091. [P20929-2]
ENST00000604864; ENSP00000474498; ENSG00000183091. [P20929-3]
GeneIDi4703.
KEGGihsa:4703.
UCSCiuc010fnx.3. human. [P20929-1]

Polymorphism databases

DMDMi313104310.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 ]
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:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1ARK NMR - A 6610-6669 [» ]
1NEB NMR - A 6610-6669 [» ]
ProteinModelPortali P20929.
SMRi P20929. Positions 6610-6669.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110783. 19 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 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 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.
GeneTreei ENSGT00530000062924.
HOGENOMi HOG000231776.
HOVERGENi HBG045595.
InParanoidi P20929.
KOi K18267.
OrthoDBi EOG7GFB81.
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

Bgeei P20929.
CleanExi HS_NEB.
ExpressionAtlasi P20929. baseline and differential.
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: November 26, 2014
This is version 148 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