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Q5VST9

- OBSCN_HUMAN

UniProt

Q5VST9 - OBSCN_HUMAN

Protein

Obscurin

Gene

OBSCN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils.2 Publications

    Catalytic activityi

    ATP + a protein = ADP + a phosphoprotein.

    Cofactori

    Magnesium.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei6497 – 64971ATPPROSITE-ProRule annotation
    Active sitei6587 – 65871Proton acceptorBy similarity
    Binding sitei7701 – 77011ATPPROSITE-ProRule annotation
    Active sitei7791 – 77911Proton acceptorBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi6474 – 64829ATPPROSITE-ProRule annotation
    Nucleotide bindingi7678 – 76869ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ankyrin binding Source: BHF-UCL
    2. ATP binding Source: UniProtKB-KW
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: IntAct
    5. protein serine/threonine kinase activity Source: UniProtKB-KW
    6. protein tyrosine kinase activity Source: InterPro
    7. Rho guanyl-nucleotide exchange factor activity Source: InterPro
    8. structural constituent of muscle Source: BHF-UCL
    9. titin binding Source: BHF-UCL

    GO - Biological processi

    1. apoptotic signaling pathway Source: Reactome
    2. multicellular organismal development Source: UniProtKB-KW
    3. neurotrophin TRK receptor signaling pathway Source: Reactome
    4. positive regulation of apoptotic process Source: Reactome
    5. protein localization to M-band Source: BHF-UCL
    6. regulation of small GTPase mediated signal transduction Source: Reactome
    7. sarcomere organization Source: BHF-UCL
    8. small GTPase mediated signal transduction Source: Reactome

    Keywords - Molecular functioni

    Developmental protein, Kinase, Muscle protein, Serine/threonine-protein kinase, Transferase

    Keywords - Biological processi

    Differentiation

    Keywords - Ligandi

    ATP-binding, Calmodulin-binding, Magnesium, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_11051. Rho GTPase cycle.
    REACT_13638. NRAGE signals death through JNK.
    REACT_18407. G alpha (12/13) signalling events.
    SignaLinkiQ5VST9.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Obscurin (EC:2.7.11.1)
    Alternative name(s):
    Obscurin-RhoGEF
    Obscurin-myosin light chain kinase
    Short name:
    Obscurin-MLCK
    Gene namesi
    Name:OBSCN
    Synonyms:KIAA1556, KIAA1639
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:15719. OBSCN.

    Subcellular locationi

    Isoform 3 : CytoplasmmyofibrilsarcomereM line. CytoplasmmyofibrilsarcomereZ line
    Note: In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z-disk. Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells.

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. M band Source: BHF-UCL
    3. myofibril Source: BHF-UCL
    4. Z disc Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1.

    Organism-specific databases

    PharmGKBiPA31888.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 79687968ObscurinPRO_0000235298Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi31 ↔ 82PROSITE-ProRule annotation
    Disulfide bondi259 ↔ 311PROSITE-ProRule annotation
    Disulfide bondi354 ↔ 404PROSITE-ProRule annotation
    Disulfide bondi819 ↔ 870PROSITE-ProRule annotation
    Disulfide bondi912 ↔ 962PROSITE-ProRule annotation
    Disulfide bondi1004 ↔ 1054PROSITE-ProRule annotation
    Disulfide bondi1096 ↔ 1146PROSITE-ProRule annotation
    Disulfide bondi1188 ↔ 1238PROSITE-ProRule annotation
    Disulfide bondi1280 ↔ 1330PROSITE-ProRule annotation
    Disulfide bondi1372 ↔ 1422PROSITE-ProRule annotation
    Disulfide bondi1464 ↔ 1514PROSITE-ProRule annotation
    Disulfide bondi1556 ↔ 1606PROSITE-ProRule annotation
    Disulfide bondi1648 ↔ 1698PROSITE-ProRule annotation
    Disulfide bondi1723 ↔ 1791PROSITE-ProRule annotation
    Disulfide bondi1830 ↔ 1880PROSITE-ProRule annotation
    Disulfide bondi2187 ↔ 2237PROSITE-ProRule annotation
    Disulfide bondi2311 ↔ 2361PROSITE-ProRule annotation
    Disulfide bondi2490 ↔ 2540PROSITE-ProRule annotation
    Disulfide bondi2668 ↔ 2718PROSITE-ProRule annotation
    Disulfide bondi2848 ↔ 2898PROSITE-ProRule annotation
    Disulfide bondi2937 ↔ 2987PROSITE-ProRule annotation
    Disulfide bondi3117 ↔ 3167PROSITE-ProRule annotation
    Disulfide bondi3206 ↔ 3256PROSITE-ProRule annotation
    Disulfide bondi3295 ↔ 3344PROSITE-ProRule annotation
    Disulfide bondi3383 ↔ 3432PROSITE-ProRule annotation
    Disulfide bondi3471 ↔ 3520PROSITE-ProRule annotation
    Disulfide bondi3559 ↔ 3608PROSITE-ProRule annotation
    Disulfide bondi3647 ↔ 3696PROSITE-ProRule annotation
    Disulfide bondi3735 ↔ 3784PROSITE-ProRule annotation
    Disulfide bondi3823 ↔ 3872PROSITE-ProRule annotation
    Disulfide bondi3911 ↔ 3961PROSITE-ProRule annotation
    Disulfide bondi4000 ↔ 4050PROSITE-ProRule annotation
    Disulfide bondi4089 ↔ 4141PROSITE-ProRule annotation
    Disulfide bondi4453 ↔ 4508PROSITE-ProRule annotation
    Disulfide bondi4919 ↔ 4971PROSITE-ProRule annotation
    Disulfide bondi5147 ↔ 5199PROSITE-ProRule annotation
    Disulfide bondi6035 ↔ 6087PROSITE-ProRule annotation
    Disulfide bondi6129 ↔ 6182PROSITE-ProRule annotation
    Disulfide bondi7484 ↔ 7536PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    MaxQBiQ5VST9.
    PaxDbiQ5VST9.
    PRIDEiQ5VST9.

    PTM databases

    PhosphoSiteiQ5VST9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5VST9.
    BgeeiQ5VST9.
    GenevestigatoriQ5VST9.

    Organism-specific databases

    HPAiHPA019497.
    HPA021186.

    Interactioni

    Subunit structurei

    Isoform 3 interacts with TTN/titin, ANK1 isoform Mu17/ank1.5, and with calmodulin in a Ca2+-independent manner. Associates with fast skeletal muscle myosin By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ANK1P161573EBI-941921,EBI-941686
    ANK1P16157-178EBI-941921,EBI-941819
    TTNQ8WZ4211EBI-941850,EBI-681210

    Protein-protein interaction databases

    BioGridi123847. 6 interactions.
    DIPiDIP-35727N.
    IntActiQ5VST9. 9 interactions.
    MINTiMINT-254901.

    Structurei

    Secondary structure

    1
    7968
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi1634 – 16396
    Beta strandi1644 – 16463
    Beta strandi1653 – 16553
    Beta strandi1658 – 16614
    Beta strandi1670 – 16778
    Beta strandi1680 – 16856
    Turni1690 – 16923
    Beta strandi1696 – 17005
    Beta strandi1707 – 17126
    Beta strandi2745 – 27506
    Beta strandi2753 – 27586
    Beta strandi2771 – 27766
    Beta strandi2784 – 27885
    Beta strandi2791 – 27966
    Turni2801 – 28033
    Beta strandi2807 – 28115
    Beta strandi2814 – 28185
    Beta strandi2820 – 28234
    Beta strandi2829 – 28313
    Beta strandi2836 – 28383
    Beta strandi2844 – 28463
    Beta strandi2849 – 28546
    Beta strandi2859 – 28635
    Beta strandi2869 – 28779
    Beta strandi2880 – 28878
    Turni2890 – 28923
    Beta strandi2894 – 28996
    Beta strandi2904 – 29118
    Beta strandi2925 – 29284
    Beta strandi2931 – 29388
    Beta strandi2947 – 29526
    Beta strandi2957 – 296610
    Beta strandi2969 – 29768
    Turni2979 – 29813
    Beta strandi2983 – 29886
    Beta strandi2996 – 30016
    Beta strandi3006 – 30094
    Beta strandi3013 – 30175
    Beta strandi3027 – 30304
    Beta strandi3037 – 30426
    Beta strandi3048 – 30503
    Turni3057 – 30593
    Beta strandi3063 – 30653
    Turni3070 – 30723
    Beta strandi3074 – 30807
    Beta strandi3087 – 30926
    Beta strandi3187 – 31893
    Beta strandi3194 – 31974
    Beta strandi3202 – 32109
    Beta strandi3216 – 32194
    Beta strandi3227 – 32359
    Beta strandi3238 – 32436
    Helixi3248 – 32503
    Beta strandi3252 – 32587
    Beta strandi3261 – 327010
    Beta strandi3371 – 33744
    Beta strandi3386 – 33883
    Beta strandi3392 – 33976
    Beta strandi3402 – 34054
    Beta strandi3407 – 34104
    Beta strandi3412 – 342110
    Turni3424 – 34263
    Beta strandi3430 – 34334
    Beta strandi3438 – 34414
    Beta strandi3443 – 34464
    Beta strandi3452 – 34543
    Beta strandi3459 – 34624
    Beta strandi3467 – 34759
    Beta strandi3480 – 34834
    Beta strandi3490 – 350920
    Turni3512 – 35143
    Beta strandi3516 – 35227
    Beta strandi3525 – 353410
    Beta strandi3555 – 356410
    Beta strandi3568 – 35758
    Beta strandi3578 – 35814
    Beta strandi3583 – 35875
    Beta strandi3590 – 35978
    Turni3600 – 36023
    Beta strandi3604 – 36107
    Beta strandi3613 – 36186
    Beta strandi3620 – 36223
    Beta strandi3628 – 36303
    Beta strandi3643 – 36519
    Beta strandi3656 – 36638
    Beta strandi3667 – 36759
    Beta strandi3678 – 36836
    Beta strandi3692 – 36987
    Beta strandi3701 – 37099
    Beta strandi3716 – 37183
    Beta strandi3723 – 37264
    Beta strandi3731 – 37399
    Beta strandi3744 – 37518
    Beta strandi3754 – 37574
    Beta strandi3759 – 37635
    Beta strandi3766 – 37738
    Turni3776 – 37783
    Beta strandi3780 – 37889
    Beta strandi3790 – 37989
    Beta strandi3811 – 38144
    Beta strandi3820 – 38245
    Beta strandi3826 – 38283
    Beta strandi3831 – 38377
    Beta strandi3842 – 38487
    Beta strandi3852 – 386110
    Helixi3864 – 38663
    Beta strandi3870 – 38745
    Beta strandi3877 – 38804
    Beta strandi3883 – 38864
    Beta strandi5604 – 56096
    Beta strandi5628 – 56369
    Beta strandi5639 – 56446
    Beta strandi5654 – 56574
    Helixi5659 – 56613
    Beta strandi5662 – 56654

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1V1CNMR-A5601-5668[»]
    2CR6NMR-A2999-3100[»]
    2DKUNMR-A2915-3004[»]
    2DM7NMR-A3551-3631[»]
    2E7BNMR-A3184-3273[»]
    2EDFNMR-A2826-2915[»]
    2EDHNMR-A3614-3713[»]
    2EDLNMR-A3801-3887[»]
    2EDQNMR-A3713-3806[»]
    2EDRNMR-A3361-3449[»]
    2EDTNMR-A3449-3537[»]
    2EDWNMR-A3537-3630[»]
    2ENYNMR-A2735-2825[»]
    2EO1NMR-A1623-1712[»]
    2GQHNMR-A3450-3543[»]
    2YZ8X-ray2.00A3184-3273[»]
    ProteinModelPortaliQ5VST9.
    SMRiQ5VST9. Positions 884-975, 979-1067, 1071-1159, 1163-1251, 1255-1436, 1439-1528, 1531-1620, 1623-1712, 2735-3100, 3184-3273, 3275-3898, 5601-5668.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ5VST9.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini10 – 10091Ig-like 1Add
    BLAST
    Domaini110 – 20293Ig-like 2Add
    BLAST
    Domaini236 – 32287Ig-like 3Add
    BLAST
    Domaini331 – 41484Ig-like 4Add
    BLAST
    Domaini420 – 50889Ig-like 5Add
    BLAST
    Domaini515 – 61298Fibronectin type-III 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini619 – 69880Ig-like 6Add
    BLAST
    Domaini701 – 79090Ig-like 7Add
    BLAST
    Domaini798 – 88487Ig-like 8Add
    BLAST
    Domaini886 – 97792Ig-like 9Add
    BLAST
    Domaini978 – 106689Ig-like 10Add
    BLAST
    Domaini1070 – 116192Ig-like 11Add
    BLAST
    Domaini1162 – 125291Ig-like 12Add
    BLAST
    Domaini1254 – 134592Ig-like 13Add
    BLAST
    Domaini1346 – 143287Ig-like 14Add
    BLAST
    Domaini1438 – 152487Ig-like 15Add
    BLAST
    Domaini1530 – 162192Ig-like 16Add
    BLAST
    Domaini1622 – 171998Ig-like 17Add
    BLAST
    Domaini1731 – 180878Fibronectin type-III 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1809 – 189486Ig-like 18Add
    BLAST
    Domaini1896 – 198287Ig-like 19Add
    BLAST
    Domaini1987 – 207185Ig-like 20Add
    BLAST
    Domaini2077 – 216286Ig-like 21Add
    BLAST
    Domaini2165 – 224985Ig-like 22Add
    BLAST
    Domaini2289 – 238092Ig-like 23Add
    BLAST
    Domaini2468 – 255992Ig-like 24Add
    BLAST
    Domaini2564 – 264380Ig-like 25Add
    BLAST
    Domaini2646 – 273085Ig-like 26Add
    BLAST
    Domaini2736 – 282388Ig-like 27Add
    BLAST
    Domaini2826 – 290883Ig-like 28Add
    BLAST
    Domaini2920 – 299980Ig-like 29Add
    BLAST
    Domaini3003 – 309290Ig-like 30Add
    BLAST
    Domaini3095 – 318389Ig-like 31Add
    BLAST
    Domaini3184 – 326885Ig-like 32Add
    BLAST
    Domaini3273 – 335684Ig-like 33Add
    BLAST
    Domaini3359 – 344486Ig-like 34Add
    BLAST
    Domaini3449 – 353284Ig-like 35Add
    BLAST
    Domaini3537 – 362084Ig-like 36Add
    BLAST
    Domaini3625 – 370884Ig-like 37Add
    BLAST
    Domaini3713 – 379684Ig-like 38Add
    BLAST
    Domaini3801 – 388484Ig-like 39Add
    BLAST
    Domaini3890 – 397384Ig-like 40Add
    BLAST
    Domaini3978 – 406285Ig-like 41Add
    BLAST
    Domaini4068 – 416093Ig-like 42Add
    BLAST
    Domaini4171 – 423969Ig-like 43Add
    BLAST
    Domaini4248 – 433790Ig-like 44Add
    BLAST
    Domaini4340 – 442788Ig-like 45Add
    BLAST
    Domaini4430 – 451889Ig-like 46Add
    BLAST
    Domaini4525 – 461995Fibronectin type-III 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini4624 – 471491Ig-like 47Add
    BLAST
    Domaini4872 – 490130IQPROSITE-ProRule annotationAdd
    BLAST
    Domaini4898 – 498992Ig-like 48Add
    BLAST
    Domaini5126 – 521590Ig-like 49Add
    BLAST
    Domaini5260 – 534990Ig-like 50Add
    BLAST
    Domaini5371 – 546797Ig-like 51Add
    BLAST
    Domaini5601 – 566868SH3Add
    BLAST
    Domaini5693 – 5877185DHPROSITE-ProRule annotationAdd
    BLAST
    Domaini5895 – 6004110PHPROSITE-ProRule annotationAdd
    BLAST
    Domaini6014 – 609784Ig-like 52Add
    BLAST
    Domaini6108 – 620093Ig-like 53Add
    BLAST
    Domaini6357 – 644589Ig-like 54Add
    BLAST
    Domaini6468 – 6721254Protein kinase 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini7463 – 755290Ig-like 55Add
    BLAST
    Domaini7557 – 764993Fibronectin type-III 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini7672 – 7924253Protein kinase 2PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi192 – 1987Poly-Ala
    Compositional biasi710 – 7134Poly-Ala
    Compositional biasi931 – 9344Poly-Ser
    Compositional biasi1115 – 11184Poly-Ser
    Compositional biasi1207 – 12104Poly-Ser
    Compositional biasi1299 – 13024Poly-Ser
    Compositional biasi1391 – 13944Poly-Ser
    Compositional biasi1575 – 15784Poly-Ser
    Compositional biasi1667 – 16704Poly-Ser
    Compositional biasi4398 – 44014Poly-Leu
    Compositional biasi4846 – 48494Poly-Gln
    Compositional biasi6789 – 67968Poly-Ser
    Compositional biasi6969 – 7117149Pro-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
    Contains 4 fibronectin type-III domains.PROSITE-ProRule annotation
    Contains 1 IQ domain.PROSITE-ProRule annotation
    Contains 1 PH domain.PROSITE-ProRule annotation
    Contains 2 protein kinase domains.PROSITE-ProRule annotation
    Contains 1 SH3 domain.Curated

    Keywords - Domaini

    Immunoglobulin domain, Repeat, SH3 domain

    Phylogenomic databases

    eggNOGiCOG0515.
    HOVERGENiHBG108206.
    InParanoidiQ5VST9.
    KOiK17531.
    OrthoDBiEOG7HHWR6.
    PhylomeDBiQ5VST9.

    Family and domain databases

    Gene3Di1.20.900.10. 1 hit.
    2.30.29.30. 1 hit.
    2.60.40.10. 60 hits.
    InterProiIPR000219. DH-domain.
    IPR003961. Fibronectin_type3.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR000048. IQ_motif_EF-hand-BS.
    IPR011009. Kinase-like_dom.
    IPR020682. Obscurin-myosin_light-ch_kin.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    IPR008271. Ser/Thr_kinase_AS.
    IPR001452. SH3_domain.
    IPR008266. Tyr_kinase_AS.
    [Graphical view]
    PANTHERiPTHR19897:SF17. PTHR19897:SF17. 1 hit.
    PfamiPF00041. fn3. 2 hits.
    PF07679. I-set. 51 hits.
    PF00612. IQ. 1 hit.
    PF00069. Pkinase. 2 hits.
    PF00621. RhoGEF. 1 hit.
    [Graphical view]
    SMARTiSM00060. FN3. 3 hits.
    SM00409. IG. 33 hits.
    SM00408. IGc2. 20 hits.
    SM00015. IQ. 1 hit.
    SM00233. PH. 1 hit.
    SM00220. S_TKc. 2 hits.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF48065. SSF48065. 1 hit.
    SSF49265. SSF49265. 3 hits.
    SSF50044. SSF50044. 1 hit.
    SSF56112. SSF56112. 2 hits.
    PROSITEiPS50010. DH_2. 1 hit.
    PS50853. FN3. 3 hits.
    PS50835. IG_LIKE. 47 hits.
    PS50096. IQ. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 2 hits.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    PS00109. PROTEIN_KINASE_TYR. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q5VST9-1) [UniParc]FASTAAdd to Basket

    Also known as: B, obscurin-MLCK giant kinase

    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

    MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV     50
    AAGARFRLAQ DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD 100
    AEAACAEQAP HFLLRPTSIR VREGSEATFR CRVGGSPRPA VSWSKDGRRL 150
    GEPDGPRVRV EELGEASALR IRAARPRDGG TYEVRAENPL GAASAAAALV 200
    VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP STGTRTCTVT 250
    EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF 300
    CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA 350
    TFLCEVPQPS TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA 400
    VYICETPEGS RTVAELAVQG NLLRKLPRKT AVRVGDTAMF CVELAVPVGP 450
    VHWLRNQEEV VAGGRVAISA EGTRHTLTIS QCCLEDVGQV AFMAGDCQTS 500
    TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE RPVTIDGYLV 550
    EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY 600
    LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA 650
    LKASSVYEIH CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA 700
    PGLTANKPPA AAAREVLARL HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP 750
    KYEVQASAGR RVLLVRDVAR DDAGLYECVS RGGRIAYQLS VQGLARFLHK 800
    DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS GERFLQEDVG 850
    TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL 900
    QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ 950
    QAGQADAGEY SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA 1000
    TLSCEVAQAQ TEVMWYKDGK KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG 1050
    DYSCEARGQR VSFRLHITEP KMMFAKEQSV HNEVQAEAGA SAMLSCEVAQ 1100
    AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD AGEYSCEAGG 1150
    QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY 1200
    KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH 1250
    ITEPKAVFAK EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS 1300
    SSKVRIEAAG CMRQLVVQQA GQADAGEYTC EAGGQRLSFH LDVSEPKAVF 1350
    AKEQLAHRKV QAEAGAIATL SCEVAQAQTE VTWYKDGKKL SSSSKVRMEA 1400
    VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV VFAKEQPVHR 1450
    EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV 1500
    VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT 1550
    SATLSCEVAQ AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD 1600
    AGEYSCKAGD QRLSFHLHVA EPKVVFAKEQ PAHREVQAEA GASATLSCEV 1650
    AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT RRLVVQQAGQ AEAGEYSCEA 1700
    GGQQLSFRLQ VAELEPQISE RPCRREPLVV KEHEDIILTA TLATPSAATV 1750
    TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF 1800
    PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV 1850
    GKRFQMVAEG PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK 1900
    FMSGLSTVVA EEGGEATFQC VVSPSDVAVV WFRDGALLQP SEKFAISQSG 1950
    ASHSLTISDL VLEDAGQITV EAEGASSSAA LRVREAPVLF KKKLEPQTVE 2000
    ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA RHRLVLHNVG 2050
    FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL 2100
    SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA 2150
    EGVHTSARLV VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK 2200
    DGVELRAGKT MAIAAQGACR SLTIYRCEFA DQGVYVCDAH DAQSSASVKV 2250
    QGRTYTLIYR RVLAEDAGEI QFVAENAESR AQLRVKELPV TLVRPLRDKI 2300
    AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD GLYRKLIISD 2350
    VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC 2400
    ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH 2450
    FTVGKSRSSA RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ 2500
    WYKDDTPLSP SEKFKMSLEG QMAELRILRL MPADAGVYRC QAGSAHSSTE 2550
    VTVEAREVTV TGPLQDAEAT EEGWASFSCE LSHEDEEVEW SLNGMPLYND 2600
    SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL EVRVKPVVFL 2650
    KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT 2700
    RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG 2750
    ESCSFECVLS HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA 2800
    PSDAGEVVFS VRGLTSKASL IVRERPAAII KPLEDQWVAP GEDVELRCEL 2850
    SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM AMLVIRGASL KDAGEYTCEV 2900
    EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE HPAATVTWRK 2950
    GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV 3000
    QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL 3050
    NEIDAQPGGY HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR 3100
    ELTDATITEG EDLTLVCETS TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA 3150
    QLLITGATLQ DSGRYKCEAG GACSSSIVRV HARPVRFQEA LKDLEVLEGG 3200
    AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE LVVRNLRPQD 3250
    SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA 3300
    APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER 3350
    TSASLTIRPM PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL 3400
    RDGDRHSLRQ DGAVCELQIC GLAVADAGEY SCVCGEERTS ATLTVKALPA 3450
    KFTEGLRNEE AVEGATAMLW CELSKVAPVE WRKGPENLRD GDRYILRQEG 3500
    TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF IEDVKNQEAR 3550
    EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM 3600
    ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS 3650
    KMAPVEWWKG HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK 3700
    ERTSAMLTVR AMPSKFIEGL RNEEATEGDT ATLWCELSKA APVEWRKGHE 3750
    TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG EYSCVCGQER TSATLTVRAL 3800
    PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL RGGDRYSLRQ 3850
    DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVRAPQP VFREPLQSLQ 3900
    AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD 3950
    LQREDTGEYT CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC 4000
    ELSRAGASVE WRKGSLQLFP CAKYQMVQDG AAAELLVRGV EQEDAGDYTC 4050
    DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE TGDIARLCCQ LSDAESGAVV 4100
    QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA CVTGGQKTAA 4150
    SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ 4200
    SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV 4250
    TILEPLQDVQ LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV 4300
    EQGTLHLLTL HKVTLEDAGT VSFHVGTCSS EAQLKVTAKN TVVRGLENVE 4350
    ALEGGEALFE CQLSQPEVAA HTWLLDDEPV HTSENAEVVF FENGLRHLLL 4400
    LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN AAVRAGAQAC 4450
    FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH 4500
    AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG 4550
    GGGLCGYRVE VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG 4600
    PVGAGEPVHL PQTVRLAEPP KPVPPQPSAP ESRQVAAGED VSLELEVVAE 4650
    AGEVIWHKGM ERIQPGGRFE VVSQGRQQML VIKGFTAEDQ GEYHCGLAQG 4700
    SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW EALARKRRMS 4750
    REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL 4800
    SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE 4850
    PLAAVRPPLG DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF 4900
    SHTFGDTEAQ VGDALRLECV VASKADVRAR WLKDGVELTD GRHHHIDQLG 4950
    DGTCSLLITG LDRADAGCYT CQVSNKFGQV THSACVVVSG SESEAESSSG 5000
    GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA EPEEPADWQT 5050
    YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM 5100
    CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT 5150
    GQPMPSVRWF KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL 5200
    AENSMGVSST KAELRVDLTS TDYDTAADAT ESSSYFSAQG YLSSREQEGT 5250
    ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF QLKVKGYPAP RLYWFKDGQP 5300
    LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG AAYSSARLLV 5350
    RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP 5400
    TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI 5450
    ASNAAGQALC SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE 5500
    TASFADLGGQ RKEEPLAAKE ALGHLSLAEV GTEEFLQKLT SQITEMVSAK 5550
    ITQAKLQVPG GDSDEDSKTP SASPRHGRSR PSSSIQESSS ESEDGDARGE 5600
    IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW LVRTKPTKSS 5650
    PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE 5700
    LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF 5750
    HSSFLQELQQ CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI 5800
    QEFYKKYAEE ALLAGDPSQP PPPPLQHYLE QPVERVQRYQ ALLKELIRNK 5850
    ARNRQNCALL EQAYAVVSAL PQRAENKLHV SLMENYPGTL QALGEPIRQG 5900
    HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT DTVSYVFRNM 5950
    MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC 6000
    GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD 6050
    GKAVQVDPHH ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG 6100
    KILVQVPPRF VNKVRASPFV EGEDAQFTCT IEGAPYPQIR WYKDGALLTT 6150
    GNKFQTLSEP RSGLLVLVIR AASKEDLGLY ECELVNRLGS ARASAELRIQ 6200
    SPMLQAQEQC HREQLVAAVE DTTLERADQE VTSVLKRLLG PKAPGPSTGD 6250
    LTGPGPCPRG APALQETGSQ PPVTGTSEAP AVPPRVPQPL LHEGPEQEPE 6300
    AIARAQEWTV PIRMEGAAWP GAGTGELLWD VHSHVVRETT QRTYTYQAID 6350
    THTARPPSMQ VTIEDVQAQT GGTAQFEAII EGDPQPSVTW YKDSVQLVDS 6400
    TRLSQQQEGT TYSLVLRHVA SKDAGVYTCL AQNTGGQVLC KAELLVLGGD 6450
    NEPDSEKQSH RRKLHSFYEV KEEIGRGVFG FVKRVQHKGN KILCAAKFIP 6500
    LRSRTRAQAY RERDILAALS HPLVTGLLDQ FETRKTLILI LELCSSEELL 6550
    DRLYRKGVVT EAEVKVYIQQ LVEGLHYLHS HGVLHLDIKP SNILMVHPAR 6600
    EDIKICDFGF AQNITPAELQ FSQYGSPEFV SPEIIQQNPV SEASDIWAMG 6650
    VISYLSLTCS SPFAGESDRA TLLNVLEGRV SWSSPMAAHL SEDAKDFIKA 6700
    TLQRAPQARP SAAQCLSHPW FLKSMPAEEA HFINTKQLKF LLARSRWQRS 6750
    LMSYKSILVM RSIPELLRGP PDSPSLGVAR HLCRDTGGSS SSSSSSDNEL 6800
    APFARAKSLP PSPVTHSPLL HPRGFLRPSA SLPEEAEASE RSTEAPAPPA 6850
    SPEGAGPPAA QGCVPRHSVI RSLFYHQAGE SPEHGALAPG SRRHPARRRH 6900
    LLKGGYIAGA LPGLREPLME HRVLEEEAAR EEQATLLAKA PSFETALRLP 6950
    ASGTHLAPGH SHSLEHDSPS TPRPSSEACG EAQRLPSAPS GGAPIRDMGH 7000
    PQGSKQLPST GGHPGTAQPE RPSPDSPWGQ PAPFCHPKQG SAPQEGCSPH 7050
    PAVAPCPPGS FPPGSCKEAP LVPSSPFLGQ PQAPPAPAKA SPPLDSKMGP 7100
    GDISLPGRPK PGPCSSPGSA SQASSSQVSS LRVGSSQVGT EPGPSLDAEG 7150
    WTQEAEDLSD STPTLQRPQE QATMRKFSLG GRGGYAGVAG YGTFAFGGDA 7200
    GGMLGQGPMW ARIAWAVSQS EEEEQEEARA ESQSEEQQEA RAESPLPQVS 7250
    ARPVPEVGRA PTRSSPEPTP WEDIGQVSLV QIRDLSGDAE AADTISLDIS 7300
    EVDPAYLNLS DLYDIKYLPF EFMIFRKVPK SAQPEPPSPM AEEELAEFPE 7350
    PTWPWPGELG PHAGLEITEE SEDVDALLAE AAVGRKRKWS SPSRSLFHFP 7400
    GRHLPLDEPA ELGLRERVKA SVEHISRILK GRPEGLEKEG PPRKKPGLAS 7450
    FRLSGLKSWD RAPTFLRELS DETVVLGQSV TLACQVSAQP AAQATWSKDG 7500
    APLESSSRVL ISATLKNFQL LTILVVVAED LGVYTCSVSN ALGTVTTTGV 7550
    LRKAERPSSS PCPDIGEVYA DGVLLVWKPV ESYGPVTYIV QCSLEGGSWT 7600
    TLASDIFDCC YLTSKLSRGG TYTFRTACVS KAGMGPYSSP SEQVLLGGPS 7650
    HLASEEESQG RSAQPLPSTK TFAFQTQIQR GRFSVVRQCW EKASGRALAA 7700
    KIIPYHPKDK TAVLREYEAL KGLRHPHLAQ LHAAYLSPRH LVLILELCSG 7750
    PELLPCLAER ASYSESEVKD YLWQMLSATQ YLHNQHILHL DLRSENMIIT 7800
    EYNLLKVVDL GNAQSLSQEK VLPSDKFKDY LETMAPELLE GQGAVPQTDI 7850
    WAIGVTAFIM LSAEYPVSSE GARDLQRGLR KGLVRLSRCY AGLSGGAVAF 7900
    LRSTLCAQPW GRPCASSCLQ CPWLTEEGPA CSRPAPVTFP TARLRVFVRN 7950
    REKRRALLYK RHNLAQVR 7968
    Length:7,968
    Mass (Da):868,484
    Last modified:November 25, 2008 - v3
    Checksum:i46550B34565CAC76
    GO
    Isoform 2 (identifier: Q5VST9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         5753-5753: S → SS

    Show »
    Length:7,969
    Mass (Da):868,571
    Checksum:i6FB22EBF680A4EF0
    GO
    Isoform 3 (identifier: Q5VST9-3) [UniParc]FASTAAdd to Basket

    Also known as: unc-89-like

    The sequence of this isoform differs from the canonical sequence as follows:
         6221-6620: DTTLERADQE...AQNITPAELQ → VTEQETKVPK...DRDGDEAAQP
         6621-7968: Missing.

    Note: Lacks the kinase domain. Initially described as obscurin.

    Show »
    Length:6,620
    Mass (Da):721,547
    Checksum:iAAD71899C0D7D0ED
    GO
    Isoform 4 (identifier: Q5VST9-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3888-3913: PQPVFREPLQSLQAEEGSTATLQCEL → LPARIHSRSEDQGGLRRGHSYTAV
         3914-7968: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:3,911
    Mass (Da):427,046
    Checksum:i1BA7C12914F8C063
    GO
    Isoform 5 (identifier: Q5VST9-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3886-3886: R → RALPARFTQD...EKTSATLTVK

    Show »
    Length:8,483
    Mass (Da):924,971
    Checksum:i9CACA6907978C3B6
    GO

    Sequence cautioni

    Isoform 4 : The sequence BAB13382.1 differs from that shown. Reason: Frameshift at positions 3891, 5061, 5093, 5268, 6352 and 6919.
    The sequence CAC85746.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAC85749.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAC85750.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAH71670.2 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI19283.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI19284.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti888 – 8881V → A in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti895 – 8951L → P in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti897 – 8971R → C in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti899 – 9002KL → EV in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti904 – 9041A → V in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti917 – 9171A → D in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti919 – 9191T → M in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti937 – 9382CM → HV in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti941 – 9411T → V in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti944 – 9441T → M in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti952 – 9521A → V in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti957 – 9571A → S in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti965 – 9651G → R in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti969 – 9691L → V in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti972 – 9721H → R in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti999 – 9991S → N in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti1011 – 10111T → A in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti1348 – 13481A → V in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1355 – 13551L → P in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1357 – 13571H → R in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1359 – 13591K → E in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1360 – 13601V → L in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1367 – 13671I → S in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1367 – 13671I → S in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1394 – 13941S → L in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1397 – 13982RM → HV in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1397 – 13971R → C in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1401 – 14011V → A in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1401 – 14011V → T in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1413 – 14131C → G in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1413 – 14131C → G in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1417 – 14171T → A in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1428 – 14281R → Q in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1432 – 14321S → H in CAC85746. (PubMed:11448995)Curated
    Sequence conflicti1445 – 14451E → D in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1455 – 14551Q → E in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1458 – 14581A → T in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1461 – 14611T → M in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1524 – 15241H → R in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1526 – 15261H → Q in CAC85749. (PubMed:11448995)Curated
    Sequence conflicti1580 – 15823VRM → MRV in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1607 – 16071K → E in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1610 – 16101D → G in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1633 – 16331H → C in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1653 – 16553AQT → GQM in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1673 – 16742RV → HM in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1677 – 16793VGC → SGY in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1692 – 16921E → D in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti1692 – 16921E → D in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1704 – 17041Q → R in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti1704 – 17041Q → R in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1710 – 17101Q → H in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti1710 – 17101Q → H in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti1848 – 18481L → P in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti2014 – 20141P → A in CAC85750. (PubMed:11448995)Curated
    Sequence conflicti3126 – 31261V → M in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti4155 – 41551T → TG in CAC85752. (PubMed:16625316)Curated
    Sequence conflicti4489 – 44891H → Q in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti4959 – 49591T → A in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti5243 – 52431S → ST in CAC85753. (PubMed:11448995)Curated
    Sequence conflicti5391 – 53911S → F in BAB13465. (PubMed:10997877)Curated
    Sequence conflicti5499 – 55002LE → FQ in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti6115 – 61151R → L in CAC44768. (PubMed:11448995)Curated
    Sequence conflicti6570 – 65701Q → E in CAJ76912. (PubMed:16625316)Curated
    Sequence conflicti6710 – 67112PS → SG in CAJ76912. (PubMed:16625316)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511A → T.1 Publication
    Corresponds to variant rs1771487 [ dbSNP | Ensembl ].
    VAR_026409
    Natural varianti502 – 5021Q → R.2 Publications
    Corresponds to variant rs1771487 [ dbSNP | Ensembl ].
    VAR_034618
    Natural varianti804 – 8041G → S.1 Publication
    Corresponds to variant rs55950009 [ dbSNP | Ensembl ].
    VAR_042276
    Natural varianti908 – 9081A → T.
    Corresponds to variant rs1757153 [ dbSNP | Ensembl ].
    VAR_047743
    Natural varianti1027 – 10271K → R.1 Publication
    Corresponds to variant rs55760713 [ dbSNP | Ensembl ].
    VAR_042277
    Natural varianti1086 – 10861A → S.1 Publication
    VAR_042278
    Natural varianti1090 – 10901A → T.1 Publication
    VAR_042279
    Natural varianti1091 – 10911S → T.1 Publication
    VAR_042280
    Natural varianti1101 – 11011A → P.1 Publication
    VAR_042281
    Natural varianti1121 – 11211G → R.1 Publication
    VAR_042282
    Natural varianti1133 – 11331L → V.1 Publication
    VAR_042283
    Natural varianti1136 – 11361A → V in a colorectal cancer sample; somatic mutation. 2 Publications
    VAR_035530
    Natural varianti1156 – 11561H → Q.1 Publication
    VAR_042284
    Natural varianti1248 – 12481Q → H.1 Publication
    VAR_042285
    Natural varianti1508 – 15081V → D.
    Corresponds to variant rs7532342 [ dbSNP | Ensembl ].
    VAR_034619
    Natural varianti1532 – 15321A → V.1 Publication
    Corresponds to variant rs453140 [ dbSNP | Ensembl ].
    VAR_042286
    Natural varianti1566 – 15661T → M.1 Publication
    Corresponds to variant rs56217040 [ dbSNP | Ensembl ].
    VAR_042287
    Natural varianti1601 – 16011A → T.1 Publication
    Corresponds to variant rs55706639 [ dbSNP | Ensembl ].
    VAR_042288
    Natural varianti1792 – 17921R → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035531
    Natural varianti1930 – 19301V → M in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035532
    Natural varianti2090 – 20901E → K in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035533
    Natural varianti2106 – 21061D → E.
    Corresponds to variant rs1188721 [ dbSNP | Ensembl ].
    VAR_047744
    Natural varianti2116 – 21161F → L.
    Corresponds to variant rs1188722 [ dbSNP | Ensembl ].
    VAR_047745
    Natural varianti2314 – 23141S → F in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035534
    Natural varianti2529 – 25291R → Q.
    Corresponds to variant rs3795783 [ dbSNP | Ensembl ].
    VAR_047746
    Natural varianti2720 – 27201V → M.
    Corresponds to variant rs1188697 [ dbSNP | Ensembl ].
    VAR_047747
    Natural varianti2812 – 28121R → W.
    Corresponds to variant rs3795785 [ dbSNP | Ensembl ].
    VAR_047748
    Natural varianti3300 – 33001A → T.1 Publication
    Corresponds to variant rs437129 [ dbSNP | Ensembl ].
    VAR_034620
    Natural varianti3372 – 33721E → D.
    Corresponds to variant rs3795789 [ dbSNP | Ensembl ].
    VAR_047749
    Natural varianti3373 – 33731S → C.
    Corresponds to variant rs3795790 [ dbSNP | Ensembl ].
    VAR_047750
    Natural varianti3389 – 33891A → V.1 Publication
    VAR_042289
    Natural varianti3426 – 34261D → E.1 Publication
    VAR_042290
    Natural varianti3834 – 38341R → G.1 Publication
    VAR_042291
    Natural varianti3983 – 39831R → Q in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035535
    Natural varianti4039 – 40391G → R.
    Corresponds to variant rs435776 [ dbSNP | Ensembl ].
    VAR_047751
    Natural varianti4381 – 43811H → R.1 Publication
    Corresponds to variant rs1150912 [ dbSNP | Ensembl ].
    VAR_034621
    Natural varianti4450 – 44501C → R.1 Publication
    Corresponds to variant rs1188732 [ dbSNP | Ensembl ].
    VAR_034622
    Natural varianti4516 – 45161R → W.
    Corresponds to variant rs11810627 [ dbSNP | Ensembl ].
    VAR_059429
    Natural varianti4534 – 45341R → H.1 Publication
    Corresponds to variant rs4653942 [ dbSNP | Ensembl ].
    VAR_026410
    Natural varianti4558 – 45581R → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035536
    Natural varianti4642 – 46421S → C.
    Corresponds to variant rs1188729 [ dbSNP | Ensembl ].
    VAR_056102
    Natural varianti4662 – 46621R → C.
    Corresponds to variant rs3795800 [ dbSNP | Ensembl ].
    VAR_056103
    Natural varianti4666 – 46661G → S.
    Corresponds to variant rs3795801 [ dbSNP | Ensembl ].
    VAR_056104
    Natural varianti4810 – 48101R → Q in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035537
    Natural varianti4823 – 48231A → S.1 Publication
    VAR_042292
    Natural varianti4962 – 49621D → G.
    Corresponds to variant rs373610 [ dbSNP | Ensembl ].
    VAR_056105
    Natural varianti5071 – 50711A → T in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035538
    Natural varianti5269 – 52691L → V.
    Corresponds to variant rs369909 [ dbSNP | Ensembl ].
    VAR_056106
    Natural varianti5575 – 55751R → H.
    Corresponds to variant rs3795809 [ dbSNP | Ensembl ].
    VAR_056107
    Natural varianti5598 – 55981R → Q.1 Publication
    VAR_042293
    Natural varianti5891 – 58911Q → E.
    Corresponds to variant rs1188710 [ dbSNP | Ensembl ].
    VAR_056108
    Natural varianti6473 – 64731E → Q.1 Publication
    VAR_042294
    Natural varianti7172 – 71721A → V.1 Publication
    Corresponds to variant rs500049 [ dbSNP | Ensembl ].
    VAR_056109

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei3886 – 38861R → RALPARFTQDLKTKEASEGA TATLQCELSKVAPVEWKKGP ETLRDGGRYSLKQDGTRCEL QIHDLSVADAGEYSCMCGQE RTSATLTVRALPARFTEGLR NEEAMEGATATLQCELSKAA PVEWRKGLEALRDGDKYSLR QDGAVCELQIHGLAMADNGV YSCVCGQERTSATLTVRALP ARFIEDMRNQKATEGATVTL QCKLRKAAPVEWRKGPNTLK DGDRYSLKQDGTSCELQIRG LVIADAGEYSCICEQERTSA TLTVRALPARFIEDVRNHEA TEGATAVLQCELSKAAPVEW RKGSETLRDGDRYSLRQDGT RCELQIRGLAVEDTGEYLCV CGQERTSATLTVRALPARFI DNMTNQEAREGATATLHCEL SKVAPVEWRKGPETLRDGDR HSLRQDGTRCELQIRGLSVA DAGEYSCVCGQERTSATLTI REATEGATAMLQCELSKVAP VEWRKGPETLRDGDRYNLRQ DGTRCELQIHGLSVADTGEY SCVCGQEKTSATLTVK in isoform 5. CuratedVSP_026970
    Alternative sequencei3888 – 391326PQPVF…LQCEL → LPARIHSRSEDQGGLRRGHS YTAV in isoform 4. 1 PublicationVSP_020086Add
    BLAST
    Alternative sequencei3914 – 79684055Missing in isoform 4. 1 PublicationVSP_020087Add
    BLAST
    Alternative sequencei5753 – 57531S → SS in isoform 2. 1 PublicationVSP_018436
    Alternative sequencei6221 – 6620400DTTLE…PAELQ → VTEQETKVPKKTVIIEETIT TVVKSPRGQRRSPSKSPSRS PSRCSASPLRPGLLAPDLLY LPGAGQPRRPEAEPGQKPVV PTLYVTEAEAHSPALPGLSG PQPKWVEVEETIEVRVKKMG PQGVSPTTEVPRSSSGHLFT LPGATPGGDPNSNNSNNKLL AQEAWAQGTAMVGVREPLVF RVDARGSVDWAASGMGSLEE EGTMEEAGEEEGEDGDAFVT EESQDTHSLGDRDPKILTHN GRMLTLADLEDYVPGEGETF HCGGPGPGAPDDPPCEVSVI QREIGEPTVGQPVLLSVGHA LGPRGPLGLFRPEPRGASPP GPQVRSLEGTSFLLREAPAR PVGSAPWTQSFCTRIRRSAD SGQSSFTTELSTQTVNFGTV GETVTLHICPDRDGDEAAQP in isoform 3. 1 PublicationVSP_018437Add
    BLAST
    Alternative sequencei6621 – 79681348Missing in isoform 3. 1 PublicationVSP_018438Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ002535 mRNA. Translation: CAC44768.1.
    AJ314896 Genomic DNA. Translation: CAC85745.1.
    AJ314898 Genomic DNA. Translation: CAC85746.1. Sequence problems.
    AJ314900 Genomic DNA. Translation: CAC85747.1.
    AJ314901 Genomic DNA. Translation: CAC85749.1. Sequence problems.
    AJ314903 Genomic DNA. Translation: CAC85750.1. Sequence problems.
    AJ314904 Genomic DNA. Translation: CAC85751.1.
    AJ314905 Genomic DNA. Translation: CAC85752.1.
    AJ314906 Genomic DNA. Translation: CAC85753.1.
    AJ314907 Genomic DNA. Translation: CAC85754.1.
    AJ314908 Genomic DNA. Translation: CAC85755.1.
    AL670729, AL353593, AL359510 Genomic DNA. Translation: CAH71673.1.
    AL359510, AL670729, AL353593 Genomic DNA. Translation: CAI15072.1.
    AL353593 Genomic DNA. Translation: CAI19283.1. Sequence problems.
    AL353593 Genomic DNA. Translation: CAI19284.1. Sequence problems.
    AL353593, AL670729, AL359510 Genomic DNA. Translation: CAI19285.1.
    AL670729 Genomic DNA. Translation: CAH71670.2. Sequence problems.
    AM231061 mRNA. Translation: CAJ76912.1.
    AB046776 mRNA. Translation: BAB13382.1. Frameshift.
    AB046859 mRNA. Translation: BAB13465.2.
    CCDSiCCDS1570.2. [Q5VST9-3]
    CCDS58065.1. [Q5VST9-1]
    RefSeqiNP_001092093.2. NM_001098623.2. [Q5VST9-1]
    NP_443075.3. NM_052843.3. [Q5VST9-3]
    UniGeneiHs.650039.
    Hs.656999.

    Genome annotation databases

    EnsembliENST00000284548; ENSP00000284548; ENSG00000154358. [Q5VST9-3]
    ENST00000422127; ENSP00000409493; ENSG00000154358. [Q5VST9-1]
    GeneIDi84033.
    KEGGihsa:84033.
    UCSCiuc001hsn.4. human. [Q5VST9-3]
    uc009xez.2. human. [Q5VST9-1]

    Polymorphism databases

    DMDMi215274225.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ002535 mRNA. Translation: CAC44768.1 .
    AJ314896 Genomic DNA. Translation: CAC85745.1 .
    AJ314898 Genomic DNA. Translation: CAC85746.1 . Sequence problems.
    AJ314900 Genomic DNA. Translation: CAC85747.1 .
    AJ314901 Genomic DNA. Translation: CAC85749.1 . Sequence problems.
    AJ314903 Genomic DNA. Translation: CAC85750.1 . Sequence problems.
    AJ314904 Genomic DNA. Translation: CAC85751.1 .
    AJ314905 Genomic DNA. Translation: CAC85752.1 .
    AJ314906 Genomic DNA. Translation: CAC85753.1 .
    AJ314907 Genomic DNA. Translation: CAC85754.1 .
    AJ314908 Genomic DNA. Translation: CAC85755.1 .
    AL670729 , AL353593 , AL359510 Genomic DNA. Translation: CAH71673.1 .
    AL359510 , AL670729 , AL353593 Genomic DNA. Translation: CAI15072.1 .
    AL353593 Genomic DNA. Translation: CAI19283.1 . Sequence problems.
    AL353593 Genomic DNA. Translation: CAI19284.1 . Sequence problems.
    AL353593 , AL670729 , AL359510 Genomic DNA. Translation: CAI19285.1 .
    AL670729 Genomic DNA. Translation: CAH71670.2 . Sequence problems.
    AM231061 mRNA. Translation: CAJ76912.1 .
    AB046776 mRNA. Translation: BAB13382.1 . Frameshift.
    AB046859 mRNA. Translation: BAB13465.2 .
    CCDSi CCDS1570.2. [Q5VST9-3 ]
    CCDS58065.1. [Q5VST9-1 ]
    RefSeqi NP_001092093.2. NM_001098623.2. [Q5VST9-1 ]
    NP_443075.3. NM_052843.3. [Q5VST9-3 ]
    UniGenei Hs.650039.
    Hs.656999.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1V1C NMR - A 5601-5668 [» ]
    2CR6 NMR - A 2999-3100 [» ]
    2DKU NMR - A 2915-3004 [» ]
    2DM7 NMR - A 3551-3631 [» ]
    2E7B NMR - A 3184-3273 [» ]
    2EDF NMR - A 2826-2915 [» ]
    2EDH NMR - A 3614-3713 [» ]
    2EDL NMR - A 3801-3887 [» ]
    2EDQ NMR - A 3713-3806 [» ]
    2EDR NMR - A 3361-3449 [» ]
    2EDT NMR - A 3449-3537 [» ]
    2EDW NMR - A 3537-3630 [» ]
    2ENY NMR - A 2735-2825 [» ]
    2EO1 NMR - A 1623-1712 [» ]
    2GQH NMR - A 3450-3543 [» ]
    2YZ8 X-ray 2.00 A 3184-3273 [» ]
    ProteinModelPortali Q5VST9.
    SMRi Q5VST9. Positions 884-975, 979-1067, 1071-1159, 1163-1251, 1255-1436, 1439-1528, 1531-1620, 1623-1712, 2735-3100, 3184-3273, 3275-3898, 5601-5668.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123847. 6 interactions.
    DIPi DIP-35727N.
    IntActi Q5VST9. 9 interactions.
    MINTi MINT-254901.

    PTM databases

    PhosphoSitei Q5VST9.

    Polymorphism databases

    DMDMi 215274225.

    Proteomic databases

    MaxQBi Q5VST9.
    PaxDbi Q5VST9.
    PRIDEi Q5VST9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000284548 ; ENSP00000284548 ; ENSG00000154358 . [Q5VST9-3 ]
    ENST00000422127 ; ENSP00000409493 ; ENSG00000154358 . [Q5VST9-1 ]
    GeneIDi 84033.
    KEGGi hsa:84033.
    UCSCi uc001hsn.4. human. [Q5VST9-3 ]
    uc009xez.2. human. [Q5VST9-1 ]

    Organism-specific databases

    CTDi 84033.
    GeneCardsi GC01P228395.
    H-InvDB HIX0001664.
    HIX0159663.
    HIX0159975.
    HIX0160154.
    HGNCi HGNC:15719. OBSCN.
    HPAi HPA019497.
    HPA021186.
    MIMi 608616. gene.
    neXtProti NX_Q5VST9.
    PharmGKBi PA31888.
    HUGEi Search...
    Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOVERGENi HBG108206.
    InParanoidi Q5VST9.
    KOi K17531.
    OrthoDBi EOG7HHWR6.
    PhylomeDBi Q5VST9.

    Enzyme and pathway databases

    Reactomei REACT_11051. Rho GTPase cycle.
    REACT_13638. NRAGE signals death through JNK.
    REACT_18407. G alpha (12/13) signalling events.
    SignaLinki Q5VST9.

    Miscellaneous databases

    EvolutionaryTracei Q5VST9.
    GeneWikii OBSCN.
    Obscurin.
    GenomeRNAii 84033.
    NextBioi 73174.
    PROi Q5VST9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5VST9.
    Bgeei Q5VST9.
    Genevestigatori Q5VST9.

    Family and domain databases

    Gene3Di 1.20.900.10. 1 hit.
    2.30.29.30. 1 hit.
    2.60.40.10. 60 hits.
    InterProi IPR000219. DH-domain.
    IPR003961. Fibronectin_type3.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR000048. IQ_motif_EF-hand-BS.
    IPR011009. Kinase-like_dom.
    IPR020682. Obscurin-myosin_light-ch_kin.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    IPR008271. Ser/Thr_kinase_AS.
    IPR001452. SH3_domain.
    IPR008266. Tyr_kinase_AS.
    [Graphical view ]
    PANTHERi PTHR19897:SF17. PTHR19897:SF17. 1 hit.
    Pfami PF00041. fn3. 2 hits.
    PF07679. I-set. 51 hits.
    PF00612. IQ. 1 hit.
    PF00069. Pkinase. 2 hits.
    PF00621. RhoGEF. 1 hit.
    [Graphical view ]
    SMARTi SM00060. FN3. 3 hits.
    SM00409. IG. 33 hits.
    SM00408. IGc2. 20 hits.
    SM00015. IQ. 1 hit.
    SM00233. PH. 1 hit.
    SM00220. S_TKc. 2 hits.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48065. SSF48065. 1 hit.
    SSF49265. SSF49265. 3 hits.
    SSF50044. SSF50044. 1 hit.
    SSF56112. SSF56112. 2 hits.
    PROSITEi PS50010. DH_2. 1 hit.
    PS50853. FN3. 3 hits.
    PS50835. IG_LIKE. 47 hits.
    PS50096. IQ. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 2 hits.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    PS00109. PROTEIN_KINASE_TYR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly."
      Young P.W., Ehler E., Gautel M.
      J. Cell Biol. 154:123-136(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3), VARIANTS THR-51; ARG-502; ASP-1508 THR-3300; ARG-4381; ARG-4450 AND HIS-4534, FUNCTION, INTERACTION WITH TTN AND CALMODULIN.
      Tissue: Heart.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Complete human gene structure of obscurin: implications for isoform generation by differential splicing."
      Fukuzawa A., Idowu S., Gautel M.
      J. Muscle Res. Cell Motil. 26:427-434(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2734-4428 (ISOFORM 5), NUCLEOTIDE SEQUENCE [MRNA] OF 6009-7968 (ISOFORM 1).
      Tissue: Cardiac myocyte.
    4. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5386-7968 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2726-7968 (ISOFORM 4), VARIANT VAL-7172.
      Tissue: Brain.
    5. "The complete gene sequence of titin, expression of an unusual ~700 kDa titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system."
      Bang M.-L., Centner T., Fornoff F., Geach A.J., Gotthardt M., McNabb M., Witt C.C., Labeit D., Gregorio C.C., Granzier H., Labeit S.
      Circ. Res. 89:1065-1072(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TTN.
    6. "Identification, tissue expression and chromosomal localization of human obscurin-MLCK, a member of the titin and Dbl families of myosin light chain kinases."
      Russell M.W., Raeker M.O., Korytkowski K.A., Sonneman K.J.
      Gene 282:237-246(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    7. "Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles."
      Bagnato P., Barone V., Giacomello E., Rossi D., Sorrentino V.
      J. Cell Biol. 160:245-253(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH ANK1.
    8. "The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour."
      Vernon E.G., Malik K., Reynolds P., Powlesland R., Dallosso A.R., Jackson S., Henthorn K., Green E.D., Brown K.W.
      Oncogene 22:1371-1380(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH PTHB1.
    9. "Essential role of obscurin in cardiac myofibrillogenesis and hypertrophic response: evidence from small interfering RNA-mediated gene silencing."
      Borisov A.B., Sutter S.B., Kontrogianni-Konstantopoulos A., Bloch R.J., Westfall M.V., Russell M.W.
      Histochem. Cell Biol. 125:227-238(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    10. "Solution structure of the Ig domains of human obscurin."
      RIKEN structural genomics initiative (RSGI)
      Submitted (AUG-2007) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 2826-3806.
    11. "Solution structure of the SH3 domain of obscurin."
      Pfuhl M., Gautel M.
      Submitted (APR-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 5601-5668.
    12. Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-1136; HIS-1792; MET-1930; LYS-2090; PHE-2314; GLN-3983; HIS-4558; GLN-4810 AND THR-5071.
    13. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-502; SER-804; ARG-1027; SER-1086; THR-1090; THR-1091; PRO-1101; ARG-1121; VAL-1133; VAL-1136; GLN-1156; HIS-1248; VAL-1532; MET-1566; THR-1601; VAL-3389; GLU-3426; GLY-3834; SER-4823; GLN-5598 AND GLN-6473.

    Entry informationi

    Entry nameiOBSCN_HUMAN
    AccessioniPrimary (citable) accession number: Q5VST9
    Secondary accession number(s): Q2A664
    , Q5T7G8, Q5T7G9, Q5VSU2, Q86YC7, Q8NHN0, Q8NHN1, Q8NHN2, Q8NHN3, Q8NHN4, Q8NHN5, Q8NHN6, Q8NHN7, Q8NHN8, Q8NHN9, Q96AA2, Q9HCD3, Q9HCL6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 127 of the entry and version 3 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 1
      Human chromosome 1: 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. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3