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P20929

- NEBU_HUMAN

UniProt

P20929 - NEBU_HUMAN

Protein

Nebulin

Gene

NEB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 5 (14 May 2014)
      Previous versions | rss
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    Functioni

    This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.

    GO - Molecular functioni

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

    GO - Biological processi

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

    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

    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

    ArrayExpressiP20929.
    BgeeiP20929.
    CleanExiHS_NEB.
    GenevestigatoriP20929.

    Organism-specific databases

    HPAiHPA016601.

    Interactioni

    Subunit structurei

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

    Binary interactionsi

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

    Protein-protein interaction databases

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

    Structurei

    Secondary structure

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

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1ARKNMR-A6610-6669[»]
    1NEBNMR-A6610-6669[»]
    ProteinModelPortaliP20929.
    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.
    HOGENOMiHOG000231776.
    HOVERGENiHBG045595.
    InParanoidiP20929.
    KOiK18267.
    OrthoDBiEOG7GFB81.
    PhylomeDBiP20929.
    TreeFamiTF319104.

    Family and domain databases

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

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P20929-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP     50
    ALAQPALAQP ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK 100
    YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV 150
    DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA 200
    MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ 250
    AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA 300
    RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE 350
    DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN 400
    YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT 450
    AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT 500
    KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK 550
    VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD 600
    YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC 650
    ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN 700
    SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT 750
    AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA 800
    YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK 850
    SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML 900
    QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA 950
    DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP 1000
    ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN 1050
    MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV 1100
    GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK 1150
    KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM 1200
    KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK 1250
    QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW 1300
    YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ 1350
    DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA 1400
    TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI 1450
    PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL 1500
    SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK 1550
    GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV 1600
    HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR 1650
    QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE 1700
    VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT 1750
    EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP 1800
    DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA 1850
    KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY 1900
    NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK 1950
    AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD 2000
    KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK 2050
    AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR 2100
    EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA 2150
    MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS 2200
    DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV 2250
    MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR 2300
    DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF 2350
    EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA 2400
    KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP 2450
    PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI 2500
    VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK 2550
    YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF 2600
    SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ 2650
    SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS 2700
    SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK 2750
    VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK 2800
    QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML 2850
    GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS 2900
    DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE 2950
    QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR QNKINYSETL 3000
    YKLANEEAKK KGYDLRSDAI PIVAAKASRD VISDYKYKDG YRKQLGHHIG 3050
    ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK 3100
    CQTLVSDVDY KNYLHEWTCL PDQNDVIHAR QAYDLQSDNI YKSDLQWLRG 3150
    IGWVPIGSMD VVKCKRAAEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN 3200
    ALNMNKRLYT EAWDKDKTQV HIMPDTPEIM LARQNKINYS ESLYRQAMEE 3250
    AKKEGYDLRS DAIPIVAAKA SRDIASDYKY KEAYRKQLGH HIGARAVHDD 3300
    PKIMWSLHIA KVQSDREYKK DFEKYKTRYS SPVDMLGIVL AKKCQTLVSD 3350
    VDYKHPLHEW ICLPDQNDII HARKAYDLQS DNLYKSDLEW MKGIGWVPID 3400
    SLEVVRAKRA GELLSDTIYR QRPETLKFTS ITDTPEQVLA KNNALNMNKR 3450
    LYTEAWDNDK KTIHVMPDTP EIMLAKLNRI NYSDKLYKLA LEESKKEGYD 3500
    LRLDAIPIQA AKASRDIASD YKYKEGYRKQ LGHHIGARNI KDDPKMMWSI 3550
    HVAKIQSDRE YKKEFEKWKT KFSSPVDMLG VVLAKKCQIL VSDIDYKHPL 3600
    HEWTCLPDQN DVIQARKAYD LQSDAIYKSD LEWLRGIGWV PIGSVEVEKV 3650
    KRAGEILSDR KYRQPADQLK FTCITDTPEI VLAKNNALTM SKHLYTEAWD 3700
    ADKTSIHVMP DTPDILLAKS NSANISQKLY TKGWDESKMK DYDLRADAIS 3750
    IKSAKASRDI ASDYKYKEAY EKQKGHHIGA QSIEDDPKIM CAIHAGKIQS 3800
    EREYKKEFQK WKTKFSSPVD MLSILLAKKC QTLVTDIDYR NYLHEWTCMP 3850
    DQNDIIQAKK AYDLQSDALY KADLEWLRGI GWMPQGSPEV LRVKNAQNIF 3900
    CDSVYRTPVV NLKYTSIVDT PEVVLAKSNA ENISIPKYRE VWDKDKTSIH 3950
    IMPDTPEINL ARANALNVSN KLYREGWDEM KAGCDVRLDA IPIQAAKASR 4000
    EIASDYKYKL DHEKQKGHYV GTLTARDDNK IRWALIADKL QNEREYRLDW 4050
    AKWKAKIQSP VDMLSILHSK NSQALVSDMD YRNYLHQWTC MPDQNDVIQA 4100
    KKAYELQSDN VYKADLEWLR GIGWMPNDSV SVNHAKHAAD IFSEKKYRTK 4150
    IETLNFTPVD DRVDYVTAKQ SGEILDDIKY RKDWNATKSK YTLTETPLLH 4200
    TAQEAARILD QYLYKEGWER QKATGYILPP DAVPFVHAHH CNDVQSELKY 4250
    KAEHVKQKGH YVGVPTMRDD PKLVWFEHAG QIQNERLYKE DYHKTKAKIN 4300
    IPADMVSVLA AKQGQTLVSD IDYRNYLHQW MCHPDQNDVI QARKAYDLQS 4350
    DNVYRADLEW LRGIGWIPLD SVDHVRVTKN QEMMSQIKYK KNALENYPNF 4400
    RSVVDPPEIV LAKINSVNQS DVKYKETFNK AKGKYTFSPD TPHISHSKDM 4450
    GKLYSTILYK GAWEGTKAYG YTLDERYIPI VGAKHADLVN SELKYKETYE 4500
    KQKGHYLAGK VIGEFPGVVH CLDFQKMRSA LNYRKHYEDT KANVHIPNDM 4550
    MNHVLAKRCQ YILSDLEYRH YFHQWTSLLE EPNVIRVRNA QEILSDNVYK 4600
    DDLNWLKGIG CYVWDTPQIL HAKKSYDLQS QLQYTAAGKE NLQNYNLVTD 4650
    TPLYVTAVQS GINASEVKYK ENYHQIKDKY TTVLETVDYD RTRNLKNLYS 4700
    SNLYKEAWDR VKATSYILPS STLSLTHAKN QKHLASHIKY REEYEKFKAL 4750
    YTLPRSVDDD PNTARCLRVG KLNIDRLYRS VYEKNKMKIH IVPDMVEMVT 4800
    AKDSQKKVSE IDYRLRLHEW ICHPDLQVND HVRKVTDQIS DIVYKDDLNW 4850
    LKGIGCYVWD TPEILHAKHA YDLRDDIKYK AHMLKTRNDY KLVTDTPVYV 4900
    QAVKSGKQLS DAVYHYDYVH SVRGKVAPTT KTVDLDRALH AYKLQSSNLY 4950
    KTSLRTLPTG YRLPGDTPHF KHIKDTRYMS SYFKYKEAYE HTKAYGYTLG 5000
    PKDVPFVHVR RVNNVTSERL YRELYHKLKD KIHTTPDTPE IRQVKKTQEA 5050
    VSELIYKSDF FKMQGHMISL PYTPQVIHCR YVGDITSDIK YKEDLQVLKG 5100
    FGCFLYDTPD MVRSRHLRKL WSNYLYTDKA RKMRDKYKVV LDTPEYRKVQ 5150
    ELKTHLSELV YRAAGKKQKS IFTSVPDTPD LLRAKRGQKL QSQYLYVELA 5200
    TKERPHHHAG NQTTALKHAK DVKDMVSEKK YKIQYEKMKD KYTPVPDTPI 5250
    LIRAKRAYWN ASDLRYKETF QKTKGKYHTV KDALDIVYHR KVTDDISKIK 5300
    YKENYMSQLG IWRSIPDRPE HFHHRAVTDT VSDVKYKEDL TWLKGIGCYA 5350
    YDTPDFTLAE KNKTLYSKYK YKEVFERTKS DFKYVADSPI NRHFKYATQL 5400
    MNEKKYRADY EQRKDKYHLV VDEPRHLLAK TAGDQISQIK YRKNYEKSKD 5450
    KFTSIVDTPE HLRTTKVNKQ ISDILYKLEY NKAKPRGYTT IHDTPMLLHV 5500
    RKVKDEVSDL KYKEVYQRNK SNCTIEPDAV HIKAAKDAYK VNTNLDYKKQ 5550
    YEANKAHWKW TPDRPDFLQA AKSSLQQSDF EYKLDREFLK GCKLSVTDDK 5600
    NTVLALRNTL IESDLKYKEK HVKERGTCHA VPDTPQILLA KTVSNLVSEN 5650
    KYKDHVKKHL AQGSYTTLPE TRDTVHVKEV TKHVSDTNYK KKFVKEKGKS 5700
    NYSIMLEPPE VKHAMEVAKK QSDVAYRKDA KENLHYTTVA DRPDIKKATQ 5750
    AAKQASEVEY RAKHRKEGSH GLSMLGRPDI EMAKKAAKLS SQVKYRENFD 5800
    KEKGKTPKYN PKDSQLYKVM KDANNLASEV KYKADLKKLH KPVTDMKESL 5850
    IMNHVLNTSQ LASSYQYKKK YEKSKGHYHT IPDNLEQLHL KEATELQSIV 5900
    KYKEKYEKER GKPMLDFETP TYITAKESQQ MQSGKEYRKD YEESIKGRNL 5950
    TGLEVTPALL HVKYATKIAS EKEYRKDLEE SIRGKGLTEM EDTPDMLRAK 6000
    NATQILNEKE YKRDLELEVK GRGLNAMANE TPDFMRARNA TDIASQIKYK 6050
    QSAEMEKANF TSVVDTPEII HAQQVKNLSS QKKYKEDAEK SMSYYETVLD 6100
    TPEIQRVREN QKNFSLLQYQ CDLKNSKGKI TVVQDTPEIL RVKENQKNFS 6150
    SVLYKEDVSP GTAIGKTPEM MRVKQTQDHI SSVKYKEAIG QGTPIPDLPE 6200
    VKRVKETQKH ISSVMYKENL GTGIPTTVTP EIERVKRNQE NFSSVLYKEN 6250
    LGKGIPTPIT PEMERVKRNQ ENFSSVLYKE NMGKGTPLAV TPEMERVKHN 6300
    QENISSVLYK ENVGKATATP VTPEMQRVKR NQENISSVLY KENLGKATPT 6350
    PFTPEMERVK RNQENFSSVL YKENMRKATP TPVTPEMERA KRNQENISSV 6400
    LYSDSFRKQI QGKAAYVLDT PEMRRVRETQ RHISTVKYHE DFEKHKGCFT 6450
    PVVTDPITER VKKNMQDFSD INYRGIQRKV VEMEQKRNDQ DQETITGLRV 6500
    WRTNPGSVFD YDPAEDNIQS RSLHMINVQA QRRSREQSRS ASALSISGGE 6550
    EKSEHSEAPD HHLSTYSDGG VFAVSTAYKH AKTTELPQQR SSSVATQQTT 6600
    VSSIPSHPST AGKIFRAMYD YMAADADEVS FKDGDAIINV QAIDEGWMYG 6650
    TVQRTGRTGM LPANYVEAI 6669
    Length:6,669
    Mass (Da):772,914
    Last modified:May 14, 2014 - v5
    Checksum:iAD93D9B6FB3D8161
    GO
    Isoform 2 (identifier: P20929-2) [UniParc]FASTAAdd to Basket

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

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

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

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

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

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

    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83957 mRNA. Translation: CAA58788.1.
    AC009497 Genomic DNA. Translation: AAY14651.1.
    AC107052 Genomic DNA. Translation: AAY14977.1.
    AC116650 Genomic DNA. No translation available.
    M19669 mRNA. Translation: AAA59917.1.
    CCDSiCCDS46424.1. [P20929-4]
    CCDS54407.1. [P20929-2]
    CCDS54408.1. [P20929-3]
    PIRiA29979.
    B29979.
    S55024.
    RefSeqiNP_004534.2. NM_004543.4.
    UniGeneiHs.588655.

    Genome annotation databases

    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83957 mRNA. Translation: CAA58788.1 .
    AC009497 Genomic DNA. Translation: AAY14651.1 .
    AC107052 Genomic DNA. Translation: AAY14977.1 .
    AC116650 Genomic DNA. No translation available.
    M19669 mRNA. Translation: AAA59917.1 .
    CCDSi CCDS46424.1. [P20929-4 ]
    CCDS54407.1. [P20929-2 ]
    CCDS54408.1. [P20929-3 ]
    PIRi A29979.
    B29979.
    S55024.
    RefSeqi NP_004534.2. NM_004543.4.
    UniGenei Hs.588655.

    3D structure databases

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

    Protein-protein interaction databases

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

    PTM databases

    PhosphoSitei P20929.

    Polymorphism databases

    DMDMi 313104310.

    Proteomic databases

    PaxDbi P20929.
    PRIDEi P20929.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

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

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.

    Miscellaneous databases

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

    Gene expression databases

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

    Family and domain databases

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

    Publicationsi

    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: October 1, 2014
    This is version 146 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