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Q5VST9

- OBSCN_HUMAN

UniProt

Q5VST9 - OBSCN_HUMAN

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Protein

Obscurin

Gene

OBSCN

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 – 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 serine/threonine kinase activity Source: UniProtKB-KW
  5. Rho guanyl-nucleotide exchange factor activity Source: InterPro
  6. structural constituent of muscle Source: BHF-UCL
  7. 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.

GO - Cellular componenti

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

BgeeiQ5VST9.
ExpressionAtlasiQ5VST9. baseline and differential.
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.
GeneTreeiENSGT00760000118877.
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.
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

        10         20         30         40         50
MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV
60 70 80 90 100
AAGARFRLAQ DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD
110 120 130 140 150
AEAACAEQAP HFLLRPTSIR VREGSEATFR CRVGGSPRPA VSWSKDGRRL
160 170 180 190 200
GEPDGPRVRV EELGEASALR IRAARPRDGG TYEVRAENPL GAASAAAALV
210 220 230 240 250
VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP STGTRTCTVT
260 270 280 290 300
EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
310 320 330 340 350
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA
360 370 380 390 400
TFLCEVPQPS TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA
410 420 430 440 450
VYICETPEGS RTVAELAVQG NLLRKLPRKT AVRVGDTAMF CVELAVPVGP
460 470 480 490 500
VHWLRNQEEV VAGGRVAISA EGTRHTLTIS QCCLEDVGQV AFMAGDCQTS
510 520 530 540 550
TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE RPVTIDGYLV
560 570 580 590 600
EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
610 620 630 640 650
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA
660 670 680 690 700
LKASSVYEIH CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA
710 720 730 740 750
PGLTANKPPA AAAREVLARL HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP
760 770 780 790 800
KYEVQASAGR RVLLVRDVAR DDAGLYECVS RGGRIAYQLS VQGLARFLHK
810 820 830 840 850
DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS GERFLQEDVG
860 870 880 890 900
TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
910 920 930 940 950
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ
960 970 980 990 1000
QAGQADAGEY SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA
1010 1020 1030 1040 1050
TLSCEVAQAQ TEVMWYKDGK KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG
1060 1070 1080 1090 1100
DYSCEARGQR VSFRLHITEP KMMFAKEQSV HNEVQAEAGA SAMLSCEVAQ
1110 1120 1130 1140 1150
AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD AGEYSCEAGG
1160 1170 1180 1190 1200
QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
1210 1220 1230 1240 1250
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH
1260 1270 1280 1290 1300
ITEPKAVFAK EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS
1310 1320 1330 1340 1350
SSKVRIEAAG CMRQLVVQQA GQADAGEYTC EAGGQRLSFH LDVSEPKAVF
1360 1370 1380 1390 1400
AKEQLAHRKV QAEAGAIATL SCEVAQAQTE VTWYKDGKKL SSSSKVRMEA
1410 1420 1430 1440 1450
VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV VFAKEQPVHR
1460 1470 1480 1490 1500
EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
1510 1520 1530 1540 1550
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT
1560 1570 1580 1590 1600
SATLSCEVAQ AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD
1610 1620 1630 1640 1650
AGEYSCKAGD QRLSFHLHVA EPKVVFAKEQ PAHREVQAEA GASATLSCEV
1660 1670 1680 1690 1700
AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT RRLVVQQAGQ AEAGEYSCEA
1710 1720 1730 1740 1750
GGQQLSFRLQ VAELEPQISE RPCRREPLVV KEHEDIILTA TLATPSAATV
1760 1770 1780 1790 1800
TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF
1810 1820 1830 1840 1850
PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV
1860 1870 1880 1890 1900
GKRFQMVAEG PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK
1910 1920 1930 1940 1950
FMSGLSTVVA EEGGEATFQC VVSPSDVAVV WFRDGALLQP SEKFAISQSG
1960 1970 1980 1990 2000
ASHSLTISDL VLEDAGQITV EAEGASSSAA LRVREAPVLF KKKLEPQTVE
2010 2020 2030 2040 2050
ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA RHRLVLHNVG
2060 2070 2080 2090 2100
FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL
2110 2120 2130 2140 2150
SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA
2160 2170 2180 2190 2200
EGVHTSARLV VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK
2210 2220 2230 2240 2250
DGVELRAGKT MAIAAQGACR SLTIYRCEFA DQGVYVCDAH DAQSSASVKV
2260 2270 2280 2290 2300
QGRTYTLIYR RVLAEDAGEI QFVAENAESR AQLRVKELPV TLVRPLRDKI
2310 2320 2330 2340 2350
AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD GLYRKLIISD
2360 2370 2380 2390 2400
VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC
2410 2420 2430 2440 2450
ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH
2460 2470 2480 2490 2500
FTVGKSRSSA RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ
2510 2520 2530 2540 2550
WYKDDTPLSP SEKFKMSLEG QMAELRILRL MPADAGVYRC QAGSAHSSTE
2560 2570 2580 2590 2600
VTVEAREVTV TGPLQDAEAT EEGWASFSCE LSHEDEEVEW SLNGMPLYND
2610 2620 2630 2640 2650
SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL EVRVKPVVFL
2660 2670 2680 2690 2700
KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT
2710 2720 2730 2740 2750
RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG
2760 2770 2780 2790 2800
ESCSFECVLS HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA
2810 2820 2830 2840 2850
PSDAGEVVFS VRGLTSKASL IVRERPAAII KPLEDQWVAP GEDVELRCEL
2860 2870 2880 2890 2900
SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM AMLVIRGASL KDAGEYTCEV
2910 2920 2930 2940 2950
EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE HPAATVTWRK
2960 2970 2980 2990 3000
GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV
3010 3020 3030 3040 3050
QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL
3060 3070 3080 3090 3100
NEIDAQPGGY HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR
3110 3120 3130 3140 3150
ELTDATITEG EDLTLVCETS TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA
3160 3170 3180 3190 3200
QLLITGATLQ DSGRYKCEAG GACSSSIVRV HARPVRFQEA LKDLEVLEGG
3210 3220 3230 3240 3250
AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE LVVRNLRPQD
3260 3270 3280 3290 3300
SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA
3310 3320 3330 3340 3350
APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER
3360 3370 3380 3390 3400
TSASLTIRPM PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL
3410 3420 3430 3440 3450
RDGDRHSLRQ DGAVCELQIC GLAVADAGEY SCVCGEERTS ATLTVKALPA
3460 3470 3480 3490 3500
KFTEGLRNEE AVEGATAMLW CELSKVAPVE WRKGPENLRD GDRYILRQEG
3510 3520 3530 3540 3550
TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF IEDVKNQEAR
3560 3570 3580 3590 3600
EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM
3610 3620 3630 3640 3650
ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS
3660 3670 3680 3690 3700
KMAPVEWWKG HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK
3710 3720 3730 3740 3750
ERTSAMLTVR AMPSKFIEGL RNEEATEGDT ATLWCELSKA APVEWRKGHE
3760 3770 3780 3790 3800
TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG EYSCVCGQER TSATLTVRAL
3810 3820 3830 3840 3850
PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL RGGDRYSLRQ
3860 3870 3880 3890 3900
DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVRAPQP VFREPLQSLQ
3910 3920 3930 3940 3950
AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD
3960 3970 3980 3990 4000
LQREDTGEYT CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC
4010 4020 4030 4040 4050
ELSRAGASVE WRKGSLQLFP CAKYQMVQDG AAAELLVRGV EQEDAGDYTC
4060 4070 4080 4090 4100
DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE TGDIARLCCQ LSDAESGAVV
4110 4120 4130 4140 4150
QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA CVTGGQKTAA
4160 4170 4180 4190 4200
SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ
4210 4220 4230 4240 4250
SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV
4260 4270 4280 4290 4300
TILEPLQDVQ LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV
4310 4320 4330 4340 4350
EQGTLHLLTL HKVTLEDAGT VSFHVGTCSS EAQLKVTAKN TVVRGLENVE
4360 4370 4380 4390 4400
ALEGGEALFE CQLSQPEVAA HTWLLDDEPV HTSENAEVVF FENGLRHLLL
4410 4420 4430 4440 4450
LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN AAVRAGAQAC
4460 4470 4480 4490 4500
FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH
4510 4520 4530 4540 4550
AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG
4560 4570 4580 4590 4600
GGGLCGYRVE VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG
4610 4620 4630 4640 4650
PVGAGEPVHL PQTVRLAEPP KPVPPQPSAP ESRQVAAGED VSLELEVVAE
4660 4670 4680 4690 4700
AGEVIWHKGM ERIQPGGRFE VVSQGRQQML VIKGFTAEDQ GEYHCGLAQG
4710 4720 4730 4740 4750
SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW EALARKRRMS
4760 4770 4780 4790 4800
REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL
4810 4820 4830 4840 4850
SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE
4860 4870 4880 4890 4900
PLAAVRPPLG DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF
4910 4920 4930 4940 4950
SHTFGDTEAQ VGDALRLECV VASKADVRAR WLKDGVELTD GRHHHIDQLG
4960 4970 4980 4990 5000
DGTCSLLITG LDRADAGCYT CQVSNKFGQV THSACVVVSG SESEAESSSG
5010 5020 5030 5040 5050
GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA EPEEPADWQT
5060 5070 5080 5090 5100
YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM
5110 5120 5130 5140 5150
CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT
5160 5170 5180 5190 5200
GQPMPSVRWF KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL
5210 5220 5230 5240 5250
AENSMGVSST KAELRVDLTS TDYDTAADAT ESSSYFSAQG YLSSREQEGT
5260 5270 5280 5290 5300
ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF QLKVKGYPAP RLYWFKDGQP
5310 5320 5330 5340 5350
LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG AAYSSARLLV
5360 5370 5380 5390 5400
RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP
5410 5420 5430 5440 5450
TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI
5460 5470 5480 5490 5500
ASNAAGQALC SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE
5510 5520 5530 5540 5550
TASFADLGGQ RKEEPLAAKE ALGHLSLAEV GTEEFLQKLT SQITEMVSAK
5560 5570 5580 5590 5600
ITQAKLQVPG GDSDEDSKTP SASPRHGRSR PSSSIQESSS ESEDGDARGE
5610 5620 5630 5640 5650
IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW LVRTKPTKSS
5660 5670 5680 5690 5700
PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE
5710 5720 5730 5740 5750
LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF
5760 5770 5780 5790 5800
HSSFLQELQQ CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI
5810 5820 5830 5840 5850
QEFYKKYAEE ALLAGDPSQP PPPPLQHYLE QPVERVQRYQ ALLKELIRNK
5860 5870 5880 5890 5900
ARNRQNCALL EQAYAVVSAL PQRAENKLHV SLMENYPGTL QALGEPIRQG
5910 5920 5930 5940 5950
HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT DTVSYVFRNM
5960 5970 5980 5990 6000
MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC
6010 6020 6030 6040 6050
GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD
6060 6070 6080 6090 6100
GKAVQVDPHH ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG
6110 6120 6130 6140 6150
KILVQVPPRF VNKVRASPFV EGEDAQFTCT IEGAPYPQIR WYKDGALLTT
6160 6170 6180 6190 6200
GNKFQTLSEP RSGLLVLVIR AASKEDLGLY ECELVNRLGS ARASAELRIQ
6210 6220 6230 6240 6250
SPMLQAQEQC HREQLVAAVE DTTLERADQE VTSVLKRLLG PKAPGPSTGD
6260 6270 6280 6290 6300
LTGPGPCPRG APALQETGSQ PPVTGTSEAP AVPPRVPQPL LHEGPEQEPE
6310 6320 6330 6340 6350
AIARAQEWTV PIRMEGAAWP GAGTGELLWD VHSHVVRETT QRTYTYQAID
6360 6370 6380 6390 6400
THTARPPSMQ VTIEDVQAQT GGTAQFEAII EGDPQPSVTW YKDSVQLVDS
6410 6420 6430 6440 6450
TRLSQQQEGT TYSLVLRHVA SKDAGVYTCL AQNTGGQVLC KAELLVLGGD
6460 6470 6480 6490 6500
NEPDSEKQSH RRKLHSFYEV KEEIGRGVFG FVKRVQHKGN KILCAAKFIP
6510 6520 6530 6540 6550
LRSRTRAQAY RERDILAALS HPLVTGLLDQ FETRKTLILI LELCSSEELL
6560 6570 6580 6590 6600
DRLYRKGVVT EAEVKVYIQQ LVEGLHYLHS HGVLHLDIKP SNILMVHPAR
6610 6620 6630 6640 6650
EDIKICDFGF AQNITPAELQ FSQYGSPEFV SPEIIQQNPV SEASDIWAMG
6660 6670 6680 6690 6700
VISYLSLTCS SPFAGESDRA TLLNVLEGRV SWSSPMAAHL SEDAKDFIKA
6710 6720 6730 6740 6750
TLQRAPQARP SAAQCLSHPW FLKSMPAEEA HFINTKQLKF LLARSRWQRS
6760 6770 6780 6790 6800
LMSYKSILVM RSIPELLRGP PDSPSLGVAR HLCRDTGGSS SSSSSSDNEL
6810 6820 6830 6840 6850
APFARAKSLP PSPVTHSPLL HPRGFLRPSA SLPEEAEASE RSTEAPAPPA
6860 6870 6880 6890 6900
SPEGAGPPAA QGCVPRHSVI RSLFYHQAGE SPEHGALAPG SRRHPARRRH
6910 6920 6930 6940 6950
LLKGGYIAGA LPGLREPLME HRVLEEEAAR EEQATLLAKA PSFETALRLP
6960 6970 6980 6990 7000
ASGTHLAPGH SHSLEHDSPS TPRPSSEACG EAQRLPSAPS GGAPIRDMGH
7010 7020 7030 7040 7050
PQGSKQLPST GGHPGTAQPE RPSPDSPWGQ PAPFCHPKQG SAPQEGCSPH
7060 7070 7080 7090 7100
PAVAPCPPGS FPPGSCKEAP LVPSSPFLGQ PQAPPAPAKA SPPLDSKMGP
7110 7120 7130 7140 7150
GDISLPGRPK PGPCSSPGSA SQASSSQVSS LRVGSSQVGT EPGPSLDAEG
7160 7170 7180 7190 7200
WTQEAEDLSD STPTLQRPQE QATMRKFSLG GRGGYAGVAG YGTFAFGGDA
7210 7220 7230 7240 7250
GGMLGQGPMW ARIAWAVSQS EEEEQEEARA ESQSEEQQEA RAESPLPQVS
7260 7270 7280 7290 7300
ARPVPEVGRA PTRSSPEPTP WEDIGQVSLV QIRDLSGDAE AADTISLDIS
7310 7320 7330 7340 7350
EVDPAYLNLS DLYDIKYLPF EFMIFRKVPK SAQPEPPSPM AEEELAEFPE
7360 7370 7380 7390 7400
PTWPWPGELG PHAGLEITEE SEDVDALLAE AAVGRKRKWS SPSRSLFHFP
7410 7420 7430 7440 7450
GRHLPLDEPA ELGLRERVKA SVEHISRILK GRPEGLEKEG PPRKKPGLAS
7460 7470 7480 7490 7500
FRLSGLKSWD RAPTFLRELS DETVVLGQSV TLACQVSAQP AAQATWSKDG
7510 7520 7530 7540 7550
APLESSSRVL ISATLKNFQL LTILVVVAED LGVYTCSVSN ALGTVTTTGV
7560 7570 7580 7590 7600
LRKAERPSSS PCPDIGEVYA DGVLLVWKPV ESYGPVTYIV QCSLEGGSWT
7610 7620 7630 7640 7650
TLASDIFDCC YLTSKLSRGG TYTFRTACVS KAGMGPYSSP SEQVLLGGPS
7660 7670 7680 7690 7700
HLASEEESQG RSAQPLPSTK TFAFQTQIQR GRFSVVRQCW EKASGRALAA
7710 7720 7730 7740 7750
KIIPYHPKDK TAVLREYEAL KGLRHPHLAQ LHAAYLSPRH LVLILELCSG
7760 7770 7780 7790 7800
PELLPCLAER ASYSESEVKD YLWQMLSATQ YLHNQHILHL DLRSENMIIT
7810 7820 7830 7840 7850
EYNLLKVVDL GNAQSLSQEK VLPSDKFKDY LETMAPELLE GQGAVPQTDI
7860 7870 7880 7890 7900
WAIGVTAFIM LSAEYPVSSE GARDLQRGLR KGLVRLSRCY AGLSGGAVAF
7910 7920 7930 7940 7950
LRSTLCAQPW GRPCASSCLQ CPWLTEEGPA CSRPAPVTFP TARLRVFVRN
7960
REKRRALLYK RHNLAQVR
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

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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.Curated

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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.
GeneTreei ENSGT00760000118877.
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

Bgeei Q5VST9.
ExpressionAtlasi Q5VST9. baseline and differential.
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.
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: October 29, 2014
This is version 128 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