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Protein

Nebulin

Gene

NEB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • structural constituent of muscle Source: ProtInc

GO - Biological processi

  • muscle filament sliding Source: Reactome
  • muscle organ development Source: ProtInc
  • regulation of actin filament length Source: UniProtKB
  • somatic muscle development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000080297-MONOMER.
ReactomeiR-HSA-390522. Striated Muscle Contraction.
SIGNORiP20929.

Names & Taxonomyi

Protein namesi
Recommended name:
Nebulin
Gene namesi
Name:NEB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:7720. NEB.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: ProtInc
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • Z disc Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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

Keywords - Diseasei

Nemaline myopathy

Organism-specific databases

DisGeNETi4703.
MalaCardsiNEB.
MIMi256030. phenotype.
OpenTargetsiENSG00000183091.
Orphaneti171439. Childhood-onset nemaline myopathy.
171433. Intermediate nemaline myopathy.
399103. Nebulin-related early-onset distal myopathy.
171430. Severe congenital nemaline myopathy.
171436. Typical nemaline myopathy.
PharmGKBiPA31530.

Polymorphism and mutation databases

BioMutaiNEB.
DMDMi313104310.

PTM / Processingi

Molecule processing

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

Proteomic databases

PeptideAtlasiP20929.
PRIDEiP20929.

PTM databases

iPTMnetiP20929.
PhosphoSitePlusiP20929.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000183091.
CleanExiHS_NEB.
ExpressionAtlasiP20929. baseline and differential.
GenevisibleiP20929. HS.

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. 23 interactors.
IntActiP20929. 25 interactors.
MINTiMINT-1175200.

Structurei

Secondary structure

16669
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi6615 – 6617Combined sources3
Beta strandi6624 – 6628Combined sources5
Beta strandi6640 – 6642Combined sources3
Beta strandi6644 – 6651Combined sources8
Turni6653 – 6655Combined sources3
Beta strandi6658 – 6662Combined sources5
Turni6663 – 6665Combined sources3
Beta strandi6666 – 6668Combined sources3

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiP20929.

Family & Domainsi

Domains and Repeats

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

Region

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

Sequence similaritiesi

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

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

GeneTreeiENSGT00530000062924.
HOGENOMiHOG000231776.
HOVERGENiHBG045595.
InParanoidiP20929.
KOiK18267.
TreeFamiTF319104.

Family and domain databases

InterProiIPR013998. Nebulin.
IPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00880. Nebulin. 77 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. AlignAdd to basket

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047692146T → A.Corresponds to variant rs4077109dbSNPEnsembl.1
Natural variantiVAR_047693191E → Q.Corresponds to variant rs35686968dbSNPEnsembl.1
Natural variantiVAR_0476941027K → N.1 PublicationCorresponds to variant rs6735208dbSNPEnsembl.1
Natural variantiVAR_0476951301Y → H.1 PublicationCorresponds to variant rs6711382dbSNPEnsembl.1
Natural variantiVAR_0476961469E → D.Corresponds to variant rs34800215dbSNPEnsembl.1
Natural variantiVAR_0476971479V → I.Corresponds to variant rs34577613dbSNPEnsembl.1
Natural variantiVAR_0476981491V → M.1 PublicationCorresponds to variant rs7426114dbSNPEnsembl.1
Natural variantiVAR_0476991969Y → H.Corresponds to variant rs34532796dbSNPEnsembl.1
Natural variantiVAR_0477002613K → N.Corresponds to variant rs13013209dbSNPEnsembl.1
Natural variantiVAR_0477012773R → Q.Corresponds to variant rs35974308dbSNPEnsembl.1
Natural variantiVAR_0477022912S → P.Corresponds to variant rs6713162dbSNPEnsembl.1
Natural variantiVAR_0477032952V → G.Corresponds to variant rs13024542dbSNPEnsembl.1
Natural variantiVAR_0477043360W → C.1 PublicationCorresponds to variant rs10172023dbSNPEnsembl.1
Natural variantiVAR_0477053887S → T.Corresponds to variant rs35227368dbSNPEnsembl.1
Natural variantiVAR_0477064271P → L.Corresponds to variant rs4327235dbSNPEnsembl.1
Natural variantiVAR_0477074337N → S.Corresponds to variant rs16830236dbSNPEnsembl.1
Natural variantiVAR_0477084401R → T.1 PublicationCorresponds to variant rs2288210dbSNPEnsembl.1
Natural variantiVAR_0242405030D → V.Corresponds to variant rs2288200dbSNPEnsembl.1
Natural variantiVAR_0477095463R → P.Corresponds to variant rs16830171dbSNPEnsembl.1
Natural variantiVAR_0218885934G → E.Corresponds to variant rs3732309dbSNPEnsembl.1
Natural variantiVAR_0569536131T → I.Corresponds to variant rs34368668dbSNPEnsembl.1
Natural variantiVAR_0569546546I → V.1 PublicationCorresponds to variant rs1061305dbSNPEnsembl.1

Alternative sequence

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

Sequence databases

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

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

3D structure databases

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

Protein-protein interaction databases

BioGridi110783. 23 interactors.
IntActiP20929. 25 interactors.
MINTiMINT-1175200.

PTM databases

iPTMnetiP20929.
PhosphoSitePlusiP20929.

Polymorphism and mutation databases

BioMutaiNEB.
DMDMi313104310.

Proteomic databases

PeptideAtlasiP20929.
PRIDEiP20929.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4703.
DisGeNETi4703.
GeneCardsiNEB.
GeneReviewsiNEB.
HGNCiHGNC:7720. NEB.
HPAiHPA016601.
MalaCardsiNEB.
MIMi161650. gene.
256030. phenotype.
neXtProtiNX_P20929.
OpenTargetsiENSG00000183091.
Orphaneti171439. Childhood-onset nemaline myopathy.
171433. Intermediate nemaline myopathy.
399103. Nebulin-related early-onset distal myopathy.
171430. Severe congenital nemaline myopathy.
171436. Typical nemaline myopathy.
PharmGKBiPA31530.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00530000062924.
HOGENOMiHOG000231776.
HOVERGENiHBG045595.
InParanoidiP20929.
KOiK18267.
TreeFamiTF319104.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000080297-MONOMER.
ReactomeiR-HSA-390522. Striated Muscle Contraction.
SIGNORiP20929.

Miscellaneous databases

ChiTaRSiNEB. human.
EvolutionaryTraceiP20929.
GenomeRNAii4703.
PROiP20929.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183091.
CleanExiHS_NEB.
ExpressionAtlasiP20929. baseline and differential.
GenevisibleiP20929. HS.

Family and domain databases

InterProiIPR013998. Nebulin.
IPR000900. Nebulin_repeat.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00880. Nebulin. 77 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]
ProtoNetiSearch...

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 2, 2016
This is version 166 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.