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Q5VST9

- OBSCN_HUMAN

UniProt

Q5VST9 - OBSCN_HUMAN

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Protein
Obscurin
Gene
OBSCN, KIAA1556, KIAA1639
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 64971ATP By similarity
Active sitei6587 – 65871Proton acceptor By similarity
Binding sitei7701 – 77011ATP By similarity
Active sitei7791 – 77911Proton acceptor By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi6474 – 64829ATP By similarity
Nucleotide bindingi7678 – 76869ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. Rho guanyl-nucleotide exchange factor activity Source: InterPro
  3. ankyrin binding Source: BHF-UCL
  4. metal ion binding Source: UniProtKB-KW
  5. protein binding Source: IntAct
  6. protein serine/threonine kinase activity Source: UniProtKB-KW
  7. protein tyrosine kinase 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
Complete GO annotation...

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.1 Publication

GO - Cellular componenti

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

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 – 79687968Obscurin
PRO_0000235298Add
BLAST

Amino acid modifications

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

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.3 Publications

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

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.

Miscellaneous databases

EvolutionaryTraceiQ5VST9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini10 – 10091Ig-like 1
Add
BLAST
Domaini110 – 20293Ig-like 2
Add
BLAST
Domaini236 – 32287Ig-like 3
Add
BLAST
Domaini331 – 41484Ig-like 4
Add
BLAST
Domaini420 – 50889Ig-like 5
Add
BLAST
Domaini515 – 61298Fibronectin type-III 1
Add
BLAST
Domaini619 – 69880Ig-like 6
Add
BLAST
Domaini701 – 79090Ig-like 7
Add
BLAST
Domaini798 – 88487Ig-like 8
Add
BLAST
Domaini886 – 97792Ig-like 9
Add
BLAST
Domaini978 – 106689Ig-like 10
Add
BLAST
Domaini1070 – 116192Ig-like 11
Add
BLAST
Domaini1162 – 125291Ig-like 12
Add
BLAST
Domaini1254 – 134592Ig-like 13
Add
BLAST
Domaini1346 – 143287Ig-like 14
Add
BLAST
Domaini1438 – 152487Ig-like 15
Add
BLAST
Domaini1530 – 162192Ig-like 16
Add
BLAST
Domaini1622 – 171998Ig-like 17
Add
BLAST
Domaini1731 – 180878Fibronectin type-III 2
Add
BLAST
Domaini1809 – 189486Ig-like 18
Add
BLAST
Domaini1896 – 198287Ig-like 19
Add
BLAST
Domaini1987 – 207185Ig-like 20
Add
BLAST
Domaini2077 – 216286Ig-like 21
Add
BLAST
Domaini2165 – 224985Ig-like 22
Add
BLAST
Domaini2289 – 238092Ig-like 23
Add
BLAST
Domaini2468 – 255992Ig-like 24
Add
BLAST
Domaini2564 – 264380Ig-like 25
Add
BLAST
Domaini2646 – 273085Ig-like 26
Add
BLAST
Domaini2736 – 282388Ig-like 27
Add
BLAST
Domaini2826 – 290883Ig-like 28
Add
BLAST
Domaini2920 – 299980Ig-like 29
Add
BLAST
Domaini3003 – 309290Ig-like 30
Add
BLAST
Domaini3095 – 318389Ig-like 31
Add
BLAST
Domaini3184 – 326885Ig-like 32
Add
BLAST
Domaini3273 – 335684Ig-like 33
Add
BLAST
Domaini3359 – 344486Ig-like 34
Add
BLAST
Domaini3449 – 353284Ig-like 35
Add
BLAST
Domaini3537 – 362084Ig-like 36
Add
BLAST
Domaini3625 – 370884Ig-like 37
Add
BLAST
Domaini3713 – 379684Ig-like 38
Add
BLAST
Domaini3801 – 388484Ig-like 39
Add
BLAST
Domaini3890 – 397384Ig-like 40
Add
BLAST
Domaini3978 – 406285Ig-like 41
Add
BLAST
Domaini4068 – 416093Ig-like 42
Add
BLAST
Domaini4171 – 423969Ig-like 43
Add
BLAST
Domaini4248 – 433790Ig-like 44
Add
BLAST
Domaini4340 – 442788Ig-like 45
Add
BLAST
Domaini4430 – 451889Ig-like 46
Add
BLAST
Domaini4525 – 461995Fibronectin type-III 3
Add
BLAST
Domaini4624 – 471491Ig-like 47
Add
BLAST
Domaini4872 – 490130IQ
Add
BLAST
Domaini4898 – 498992Ig-like 48
Add
BLAST
Domaini5126 – 521590Ig-like 49
Add
BLAST
Domaini5260 – 534990Ig-like 50
Add
BLAST
Domaini5371 – 546797Ig-like 51
Add
BLAST
Domaini5601 – 566868SH3
Add
BLAST
Domaini5693 – 5877185DH
Add
BLAST
Domaini5895 – 6004110PH
Add
BLAST
Domaini6014 – 609784Ig-like 52
Add
BLAST
Domaini6108 – 620093Ig-like 53
Add
BLAST
Domaini6357 – 644589Ig-like 54
Add
BLAST
Domaini6468 – 6721254Protein kinase 1
Add
BLAST
Domaini7463 – 755290Ig-like 55
Add
BLAST
Domaini7557 – 764993Fibronectin type-III 4
Add
BLAST
Domaini7672 – 7924253Protein kinase 2
Add
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-rich
Add
BLAST

Sequence similaritiesi

Contains 1 IQ domain.
Contains 1 PH domain.
Contains 1 SH3 domain.

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.

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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.

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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.

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.

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.1 Publication
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.
VSP_026970
Alternative sequencei3888 – 391326PQPVF…LQCEL → LPARIHSRSEDQGGLRRGHS YTAV in isoform 4.
VSP_020086Add
BLAST
Alternative sequencei3914 – 79684055Missing in isoform 4.
VSP_020087Add
BLAST
Alternative sequencei5753 – 57531S → SS in isoform 2.
VSP_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.
VSP_018437Add
BLAST
Alternative sequencei6621 – 79681348Missing in isoform 3.
VSP_018438Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti888 – 8881V → A in CAC85746. 1 Publication
Sequence conflicti895 – 8951L → P in CAC85746. 1 Publication
Sequence conflicti897 – 8971R → C in CAC85746. 1 Publication
Sequence conflicti899 – 9002KL → EV in CAC85746. 1 Publication
Sequence conflicti904 – 9041A → V in CAC85746. 1 Publication
Sequence conflicti917 – 9171A → D in CAC85746. 1 Publication
Sequence conflicti919 – 9191T → M in CAC85746. 1 Publication
Sequence conflicti937 – 9382CM → HV in CAC85746. 1 Publication
Sequence conflicti941 – 9411T → V in CAC85746. 1 Publication
Sequence conflicti944 – 9441T → M in CAC85746. 1 Publication
Sequence conflicti952 – 9521A → V in CAC85746. 1 Publication
Sequence conflicti957 – 9571A → S in CAC85746. 1 Publication
Sequence conflicti965 – 9651G → R in CAC85746. 1 Publication
Sequence conflicti969 – 9691L → V in CAC85746. 1 Publication
Sequence conflicti972 – 9721H → R in CAC85746. 1 Publication
Sequence conflicti999 – 9991S → N in CAC44768. 1 Publication
Sequence conflicti1011 – 10111T → A in CAC44768. 1 Publication
Sequence conflicti1348 – 13481A → V in CAC85746. 1 Publication
Sequence conflicti1355 – 13551L → P in CAC85749. 1 Publication
Sequence conflicti1357 – 13571H → R in CAC85746. 1 Publication
Sequence conflicti1359 – 13591K → E in CAC85749. 1 Publication
Sequence conflicti1360 – 13601V → L in CAC85746. 1 Publication
Sequence conflicti1367 – 13671I → S in CAC85746. 1 Publication
Sequence conflicti1367 – 13671I → S in CAC85749. 1 Publication
Sequence conflicti1394 – 13941S → L in CAC85749. 1 Publication
Sequence conflicti1397 – 13982RM → HV in CAC85749. 1 Publication
Sequence conflicti1397 – 13971R → C in CAC85746. 1 Publication
Sequence conflicti1401 – 14011V → A in CAC85749. 1 Publication
Sequence conflicti1401 – 14011V → T in CAC85746. 1 Publication
Sequence conflicti1413 – 14131C → G in CAC85746. 1 Publication
Sequence conflicti1413 – 14131C → G in CAC85749. 1 Publication
Sequence conflicti1417 – 14171T → A in CAC85746. 1 Publication
Sequence conflicti1428 – 14281R → Q in CAC85749. 1 Publication
Sequence conflicti1432 – 14321S → H in CAC85746. 1 Publication
Sequence conflicti1445 – 14451E → D in CAC85750. 1 Publication
Sequence conflicti1455 – 14551Q → E in CAC85750. 1 Publication
Sequence conflicti1458 – 14581A → T in CAC85750. 1 Publication
Sequence conflicti1461 – 14611T → M in CAC85750. 1 Publication
Sequence conflicti1524 – 15241H → R in CAC85749. 1 Publication
Sequence conflicti1526 – 15261H → Q in CAC85749. 1 Publication
Sequence conflicti1580 – 15823VRM → MRV in CAC85750. 1 Publication
Sequence conflicti1607 – 16071K → E in CAC85750. 1 Publication
Sequence conflicti1610 – 16101D → G in CAC85750. 1 Publication
Sequence conflicti1633 – 16331H → C in CAC85750. 1 Publication
Sequence conflicti1653 – 16553AQT → GQM in CAC85750. 1 Publication
Sequence conflicti1673 – 16742RV → HM in CAC85750. 1 Publication
Sequence conflicti1677 – 16793VGC → SGY in CAC85750. 1 Publication
Sequence conflicti1692 – 16921E → D in CAC44768. 1 Publication
Sequence conflicti1692 – 16921E → D in CAC85750. 1 Publication
Sequence conflicti1704 – 17041Q → R in CAC44768. 1 Publication
Sequence conflicti1704 – 17041Q → R in CAC85750. 1 Publication
Sequence conflicti1710 – 17101Q → H in CAC44768. 1 Publication
Sequence conflicti1710 – 17101Q → H in CAC85750. 1 Publication
Sequence conflicti1848 – 18481L → P in CAC44768. 1 Publication
Sequence conflicti2014 – 20141P → A in CAC85750. 1 Publication
Sequence conflicti3126 – 31261V → M in CAC44768. 1 Publication
Sequence conflicti4155 – 41551T → TG in CAC85752. 1 Publication
Sequence conflicti4489 – 44891H → Q in CAC44768. 1 Publication
Sequence conflicti4959 – 49591T → A in CAC44768. 1 Publication
Sequence conflicti5243 – 52431S → ST in CAC85753. 1 Publication
Sequence conflicti5391 – 53911S → F in BAB13465. 1 Publication
Sequence conflicti5499 – 55002LE → FQ in CAC44768. 1 Publication
Sequence conflicti6115 – 61151R → L in CAC44768. 1 Publication
Sequence conflicti6570 – 65701Q → E in CAJ76912. 1 Publication
Sequence conflicti6710 – 67112PS → SG in CAJ76912. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 126 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

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