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Protein

U5 small nuclear ribonucleoprotein 200 kDa helicase

Gene

SNRNP200

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.4 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi503 – 510ATPPROSITE-ProRule annotation1 Publication8
Nucleotide bindingi1350 – 1357ATPPROSITE-ProRule annotation1 Publication8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent helicase activity Source: HGNC
  • ATP-dependent RNA helicase activity Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  • cis assembly of pre-catalytic spliceosome Source: HGNC
  • mRNA splicing, via spliceosome Source: UniProtKB
  • osteoblast differentiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000144028-MONOMER.
ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.
R-HSA-72165. mRNA Splicing - Minor Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
U5 small nuclear ribonucleoprotein 200 kDa helicase (EC:3.6.4.131 Publication)
Alternative name(s):
Activating signal cointegrator 1 complex subunit 3-like 1
BRR2 homolog
U5 snRNP-specific 200 kDa protein
Short name:
U5-200KD
Gene namesi
Name:SNRNP200
Synonyms:ASCC3L1, HELIC2, KIAA0788
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:30859. SNRNP200.

Subcellular locationi

GO - Cellular componenti

  • catalytic step 2 spliceosome Source: UniProtKB
  • membrane Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • spliceosomal complex Source: UniProtKB
  • U5 snRNP Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 33 (RP33)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:610359
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071689502C → R in RP33. 1 Publication1
Natural variantiVAR_071690542A → V in RP33. 1 Publication1
Natural variantiVAR_065587681R → C in RP33. 2 Publications1
Natural variantiVAR_065588681R → H in RP33. 2 PublicationsCorresponds to variant rs527236113dbSNPEnsembl.1
Natural variantiVAR_071691682P → S in RP33. 1 Publication1
Natural variantiVAR_065589683V → L in RP33; unknown pathological significance. 1 PublicationCorresponds to variant rs527236114dbSNPEnsembl.1
Natural variantiVAR_065590689Y → C in RP33. 1 Publication1
Natural variantiVAR_071692698I → V in RP33. 1 Publication1
Natural variantiVAR_071693885Q → E in RP33. 1 PublicationCorresponds to variant rs397514575dbSNPEnsembl.1
Natural variantiVAR_0635391087S → L in RP33; strongly reduced RNA helicase activity. 5 PublicationsCorresponds to variant rs267607077dbSNPEnsembl.1
Natural variantiVAR_0635401090R → L in RP33. 1 PublicationCorresponds to variant rs397514574dbSNPEnsembl.1
Natural variantiVAR_0716941779R → H in RP33. 1 PublicationCorresponds to variant rs749546665dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi603R → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication1
Mutagenesisi637R → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication1
Mutagenesisi1544K → A: Decreased ATP-dependent RNA helicase activity. 1 Publication1
Mutagenesisi1548H → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication1
Mutagenesisi1578T → A: Decreased ATP-dependent RNA helicase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi23020.
MalaCardsiSNRNP200.
MIMi610359. phenotype.
OpenTargetsiENSG00000144028.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA164726004.

Polymorphism and mutation databases

BioMutaiSNRNP200.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001020871 – 2136U5 small nuclear ribonucleoprotein 200 kDa helicaseAdd BLAST2136

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei17PhosphoserineCombined sources1
Modified residuei26PhosphoserineCombined sources1
Modified residuei225PhosphoserineCombined sources1
Modified residuei389PhosphothreonineCombined sources1
Modified residuei709PhosphotyrosineBy similarity1
Modified residuei971N6-acetyllysine; alternateCombined sources1
Modified residuei1428PhosphothreonineCombined sources1
Modified residuei1765PhosphothreonineBy similarity1
Modified residuei2002PhosphoserineCombined sources1
Modified residuei2131PhosphothreonineCombined sources1
Modified residuei2133PhosphoserineCombined sources1
Modified residuei2135PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO75643.
MaxQBiO75643.
PaxDbiO75643.
PeptideAtlasiO75643.
PRIDEiO75643.

PTM databases

iPTMnetiO75643.
PhosphoSitePlusiO75643.
SwissPalmiO75643.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000144028.
CleanExiHS_SNRNP200.
ExpressionAtlasiO75643. baseline and differential.
GenevisibleiO75643. HS.

Organism-specific databases

HPAiHPA029321.

Interactioni

Subunit structurei

Component of a core complex containing at least PRPF8, SNRNP200, EFTUD2 and SNRNP40. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-1045395,EBI-1045395
CHMP1BQ7LBR13EBI-1045395,EBI-2118090
RNF113AO155412EBI-1045395,EBI-2130294

Protein-protein interaction databases

BioGridi116661. 177 interactors.
DIPiDIP-31659N.
IntActiO75643. 59 interactors.
MINTiMINT-5003904.
STRINGi9606.ENSP00000317123.

Structurei

Secondary structure

12136
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi411 – 414Combined sources4
Helixi419 – 421Combined sources3
Beta strandi436 – 438Combined sources3
Beta strandi440 – 447Combined sources8
Turni464 – 466Combined sources3
Helixi469 – 471Combined sources3
Helixi483 – 487Combined sources5
Helixi489 – 493Combined sources5
Beta strandi499 – 502Combined sources4
Helixi510 – 521Combined sources12
Helixi522 – 524Combined sources3
Beta strandi537 – 541Combined sources5
Helixi545 – 559Combined sources15
Turni560 – 563Combined sources4
Beta strandi566 – 568Combined sources3
Helixi580 – 582Combined sources3
Beta strandi584 – 588Combined sources5
Helixi590 – 596Combined sources7
Helixi603 – 606Combined sources4
Beta strandi609 – 614Combined sources6
Helixi617 – 621Combined sources5
Helixi625 – 642Combined sources18
Beta strandi647 – 652Combined sources6
Helixi658 – 664Combined sources7
Helixi669 – 672Combined sources4
Beta strandi673 – 675Combined sources3
Helixi678 – 680Combined sources3
Beta strandi685 – 688Combined sources4
Helixi697 – 712Combined sources16
Beta strandi716 – 718Combined sources3
Beta strandi721 – 724Combined sources4
Turni728 – 731Combined sources4
Helixi732 – 744Combined sources13
Beta strandi752 – 754Combined sources3
Turni756 – 758Combined sources3
Helixi761 – 764Combined sources4
Helixi772 – 777Combined sources6
Turni778 – 781Combined sources4
Beta strandi782 – 785Combined sources4
Beta strandi787 – 789Combined sources3
Helixi792 – 802Combined sources11
Beta strandi808 – 811Combined sources4
Helixi813 – 818Combined sources6
Beta strandi823 – 829Combined sources7
Beta strandi832 – 835Combined sources4
Turni836 – 839Combined sources4
Beta strandi840 – 843Combined sources4
Helixi846 – 853Combined sources8
Turni859 – 861Combined sources3
Beta strandi865 – 873Combined sources9
Turni874 – 877Combined sources4
Helixi878 – 882Combined sources5
Turni883 – 885Combined sources3
Turni893 – 896Combined sources4
Helixi897 – 906Combined sources10
Helixi913 – 922Combined sources10
Helixi924 – 931Combined sources8
Turni933 – 937Combined sources5
Helixi940 – 945Combined sources6
Helixi950 – 966Combined sources17
Beta strandi969 – 972Combined sources4
Turni974 – 976Combined sources3
Beta strandi978 – 981Combined sources4
Helixi983 – 990Combined sources8
Helixi995 – 1004Combined sources10
Helixi1011 – 1019Combined sources9
Helixi1022 – 1024Combined sources3
Helixi1031 – 1033Combined sources3
Helixi1034 – 1043Combined sources10
Beta strandi1044 – 1046Combined sources3
Helixi1055 – 1067Combined sources13
Helixi1075 – 1101Combined sources27
Helixi1105 – 1120Combined sources16
Beta strandi1124 – 1126Combined sources3
Helixi1128 – 1131Combined sources4
Helixi1137 – 1144Combined sources8
Helixi1150 – 1155Combined sources6
Helixi1158 – 1165Combined sources8
Helixi1168 – 1170Combined sources3
Helixi1171 – 1178Combined sources8
Beta strandi1184 – 1206Combined sources23
Turni1212 – 1214Combined sources3
Beta strandi1218 – 1226Combined sources9
Beta strandi1232 – 1242Combined sources11
Helixi1243 – 1245Combined sources3
Beta strandi1250 – 1257Combined sources8
Beta strandi1264 – 1275Combined sources12
Beta strandi1279 – 1285Combined sources7
Helixi1309 – 1311Combined sources3
Helixi1315 – 1318Combined sources4
Turni1319 – 1324Combined sources6
Beta strandi1326 – 1328Combined sources3
Helixi1330 – 1340Combined sources11
Beta strandi1346 – 1349Combined sources4
Helixi1357 – 1370Combined sources14
Beta strandi1376 – 1379Combined sources4
Helixi1383 – 1397Combined sources15
Turni1398 – 1400Combined sources3
Beta strandi1405 – 1407Combined sources3
Helixi1412 – 1421Combined sources10
Beta strandi1423 – 1427Combined sources5
Helixi1429 – 1436Combined sources8
Turni1437 – 1441Combined sources5
Helixi1443 – 1446Combined sources4
Beta strandi1449 – 1453Combined sources5
Helixi1456 – 1460Combined sources5
Helixi1464 – 1479Combined sources16
Beta strandi1481 – 1483Combined sources3
Beta strandi1486 – 1492Combined sources7
Helixi1497 – 1504Combined sources8
Beta strandi1511 – 1513Combined sources3
Helixi1516 – 1518Combined sources3
Beta strandi1523 – 1530Combined sources8
Helixi1535 – 1540Combined sources6
Helixi1543 – 1553Combined sources11
Beta strandi1555 – 1557Combined sources3
Beta strandi1559 – 1565Combined sources7
Helixi1566 – 1582Combined sources17
Turni1586 – 1589Combined sources4
Helixi1594 – 1601Combined sources8
Helixi1607 – 1614Combined sources8
Beta strandi1617 – 1620Combined sources4
Helixi1626 – 1638Combined sources13
Beta strandi1639 – 1641Combined sources3
Beta strandi1643 – 1647Combined sources5
Helixi1648 – 1650Combined sources3
Beta strandi1651 – 1653Combined sources3
Beta strandi1658 – 1664Combined sources7
Beta strandi1666 – 1670Combined sources5
Turni1671 – 1674Combined sources4
Beta strandi1675 – 1678Combined sources4
Helixi1681 – 1688Combined sources8
Turni1694 – 1696Combined sources3
Beta strandi1700 – 1707Combined sources8
Helixi1708 – 1710Combined sources3
Helixi1711 – 1717Combined sources7
Helixi1728 – 1730Combined sources3
Helixi1733 – 1741Combined sources9
Helixi1748 – 1755Combined sources8
Helixi1760 – 1766Combined sources7
Helixi1768 – 1770Combined sources3
Helixi1778 – 1798Combined sources21
Beta strandi1801 – 1805Combined sources5
Turni1806 – 1808Combined sources3
Beta strandi1809 – 1812Combined sources4
Helixi1814 – 1821Combined sources8
Helixi1826 – 1835Combined sources10
Helixi1842 – 1850Combined sources9
Helixi1853 – 1855Combined sources3
Helixi1865 – 1874Combined sources10
Beta strandi1875 – 1877Combined sources3
Helixi1887 – 1899Combined sources13
Helixi1906 – 1932Combined sources27
Helixi1936 – 1951Combined sources16
Helixi1959 – 1962Combined sources4
Helixi1968 – 1976Combined sources9
Helixi1982 – 1987Combined sources6
Helixi1990 – 1997Combined sources8
Helixi2001 – 2011Combined sources11
Beta strandi2017 – 2023Combined sources7
Helixi2026 – 2028Combined sources3
Beta strandi2033 – 2043Combined sources11
Beta strandi2056 – 2058Combined sources3
Beta strandi2064 – 2070Combined sources7
Turni2071 – 2074Combined sources4
Beta strandi2075 – 2082Combined sources8
Beta strandi2085 – 2095Combined sources11
Beta strandi2098 – 2112Combined sources15
Beta strandi2118 – 2127Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2Q0ZX-ray2.00X1808-2136[»]
3JCRelectron microscopy7.00C1-2136[»]
4F91X-ray2.70B402-2125[»]
4F92X-ray2.66B402-2125[»]
4F93X-ray2.92B402-2125[»]
4KITX-ray3.60B395-2129[»]
ProteinModelPortaliO75643.
SMRiO75643.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75643.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini490 – 673Helicase ATP-binding 1PROSITE-ProRule annotationAdd BLAST184
Domaini684 – 921Helicase C-terminal 1PROSITE-ProRule annotationAdd BLAST238
Domaini981 – 1286SEC63 1Add BLAST306
Domaini1337 – 1512Helicase ATP-binding 2PROSITE-ProRule annotationAdd BLAST176
Domaini1545 – 1753Helicase C-terminal 2PROSITE-ProRule annotationAdd BLAST209
Domaini1812 – 2124SEC63 2Add BLAST313

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili54 – 84Sequence analysisAdd BLAST31

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi615 – 618DEIH box4
Motifi1454 – 1457DEVH box4

Domaini

Contains two helicase domains. The N-terminal helicase domain has catalytic activity by itself, contrary to the C-terminal helicase domain that may have a regulatory role and enhance the activity of the first helicase domain.1 Publication

Sequence similaritiesi

Belongs to the helicase family. SKI2 subfamily.Curated
Contains 2 helicase ATP-binding domains.PROSITE-ProRule annotation
Contains 2 helicase C-terminal domains.PROSITE-ProRule annotation
Contains 2 SEC63 domains.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0952. Eukaryota.
COG1204. LUCA.
GeneTreeiENSGT00640000091272.
HOVERGENiHBG051896.
InParanoidiO75643.
KOiK12854.
OMAiKKMENWW.
OrthoDBiEOG091G0HE5.
PhylomeDBiO75643.
TreeFamiTF300056.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
3.40.50.300. 4 hits.
InterProiIPR000008. C2_dom.
IPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR014756. Ig_E-set.
IPR027417. P-loop_NTPase.
IPR004179. Sec63-dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00270. DEAD. 2 hits.
PF00271. Helicase_C. 1 hit.
PF02889. Sec63. 2 hits.
[Graphical view]
SMARTiSM00487. DEXDc. 2 hits.
SM00490. HELICc. 2 hits.
SM00973. Sec63. 2 hits.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 2 hits.
SSF52540. SSF52540. 4 hits.
SSF81296. SSF81296. 1 hit.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 2 hits.
PS51194. HELICASE_CTER. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75643-1) [UniParc]FASTAAdd to basket

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

« Hide

        10         20         30         40         50
MADVTARSLQ YEYKANSNLV LQADRSLIDR TRRDEPTGEV LSLVGKLEGT
60 70 80 90 100
RMGDKAQRTK PQMQEERRAK RRKRDEDRHD INKMKGYTLL SEGIDEMVGI
110 120 130 140 150
IYKPKTKETR ETYEVLLSFI QAALGDQPRD ILCGAADEVL AVLKNEKLRD
160 170 180 190 200
KERRKEIDLL LGQTDDTRYH VLVNLGKKIT DYGGDKEIQN MDDNIDETYG
210 220 230 240 250
VNVQFESDEE EGDEDVYGEV REEASDDDME GDEAVVRCTL SANLVASGEL
260 270 280 290 300
MSSKKKDLHP RDIDAFWLQR QLSRFYDDAI VSQKKADEVL EILKTASDDR
310 320 330 340 350
ECENQLVLLL GFNTFDFIKV LRQHRMMILY CTLLASAQSE AEKERIMGKM
360 370 380 390 400
EADPELSKFL YQLHETEKED LIREERSRRE RVRQSRMDTD LETMDLDQGG
410 420 430 440 450
EALAPRQVLD LEDLVFTQGS HFMANKRCQL PDGSFRRQRK GYEEVHVPAL
460 470 480 490 500
KPKPFGSEEQ LLPVEKLPKY AQAGFEGFKT LNRIQSKLYR AALETDENLL
510 520 530 540 550
LCAPTGAGKT NVALMCMLRE IGKHINMDGT INVDDFKIIY IAPMRSLVQE
560 570 580 590 600
MVGSFGKRLA TYGITVAELT GDHQLCKEEI SATQIIVCTP EKWDIITRKG
610 620 630 640 650
GERTYTQLVR LIILDEIHLL HDDRGPVLEA LVARAIRNIE MTQEDVRLIG
660 670 680 690 700
LSATLPNYED VATFLRVDPA KGLFYFDNSF RPVPLEQTYV GITEKKAIKR
710 720 730 740 750
FQIMNEIVYE KIMEHAGKNQ VLVFVHSRKE TGKTARAIRD MCLEKDTLGL
760 770 780 790 800
FLREGSASTE VLRTEAEQCK NLELKDLLPY GFAIHHAGMT RVDRTLVEDL
810 820 830 840 850
FADKHIQVLV STATLAWGVN LPAHTVIIKG TQVYSPEKGR WTELGALDIL
860 870 880 890 900
QMLGRAGRPQ YDTKGEGILI TSHGELQYYL SLLNQQLPIE SQMVSKLPDM
910 920 930 940 950
LNAEIVLGNV QNAKDAVNWL GYAYLYIRML RSPTLYGISH DDLKGDPLLD
960 970 980 990 1000
QRRLDLVHTA ALMLDKNNLV KYDKKTGNFQ VTELGRIASH YYITNDTVQT
1010 1020 1030 1040 1050
YNQLLKPTLS EIELFRVFSL SSEFKNITVR EEEKLELQKL LERVPIPVKE
1060 1070 1080 1090 1100
SIEEPSAKIN VLLQAFISQL KLEGFALMAD MVYVTQSAGR LMRAIFEIVL
1110 1120 1130 1140 1150
NRGWAQLTDK TLNLCKMIDK RMWQSMCPLR QFRKLPEEVV KKIEKKNFPF
1160 1170 1180 1190 1200
ERLYDLNHNE IGELIRMPKM GKTIHKYVHL FPKLELSVHL QPITRSTLKV
1210 1220 1230 1240 1250
ELTITPDFQW DEKVHGSSEA FWILVEDVDS EVILHHEYFL LKAKYAQDEH
1260 1270 1280 1290 1300
LITFFVPVFE PLPPQYFIRV VSDRWLSCET QLPVSFRHLI LPEKYPPPTE
1310 1320 1330 1340 1350
LLDLQPLPVS ALRNSAFESL YQDKFPFFNP IQTQVFNTVY NSDDNVFVGA
1360 1370 1380 1390 1400
PTGSGKTICA EFAILRMLLQ SSEGRCVYIT PMEALAEQVY MDWYEKFQDR
1410 1420 1430 1440 1450
LNKKVVLLTG ETSTDLKLLG KGNIIISTPE KWDILSRRWK QRKNVQNINL
1460 1470 1480 1490 1500
FVVDEVHLIG GENGPVLEVI CSRMRYISSQ IERPIRIVAL SSSLSNAKDV
1510 1520 1530 1540 1550
AHWLGCSATS TFNFHPNVRP VPLELHIQGF NISHTQTRLL SMAKPVYHAI
1560 1570 1580 1590 1600
TKHSPKKPVI VFVPSRKQTR LTAIDILTTC AADIQRQRFL HCTEKDLIPY
1610 1620 1630 1640 1650
LEKLSDSTLK ETLLNGVGYL HEGLSPMERR LVEQLFSSGA IQVVVASRSL
1660 1670 1680 1690 1700
CWGMNVAAHL VIIMDTQYYN GKIHAYVDYP IYDVLQMVGH ANRPLQDDEG
1710 1720 1730 1740 1750
RCVIMCQGSK KDFFKKFLYE PLPVESHLDH CMHDHFNAEI VTKTIENKQD
1760 1770 1780 1790 1800
AVDYLTWTFL YRRMTQNPNY YNLQGISHRH LSDHLSELVE QTLSDLEQSK
1810 1820 1830 1840 1850
CISIEDEMDV APLNLGMIAA YYYINYTTIE LFSMSLNAKT KVRGLIEIIS
1860 1870 1880 1890 1900
NAAEYENIPI RHHEDNLLRQ LAQKVPHKLN NPKFNDPHVK TNLLLQAHLS
1910 1920 1930 1940 1950
RMQLSAELQS DTEEILSKAI RLIQACVDVL SSNGWLSPAL AAMELAQMVT
1960 1970 1980 1990 2000
QAMWSKDSYL KQLPHFTSEH IKRCTDKGVE SVFDIMEMED EERNALLQLT
2010 2020 2030 2040 2050
DSQIADVARF CNRYPNIELS YEVVDKDSIR SGGPVVVLVQ LEREEEVTGP
2060 2070 2080 2090 2100
VIAPLFPQKR EEGWWVVIGD AKSNSLISIK RLTLQQKAKV KLDFVAPATG
2110 2120 2130
AHNYTLYFMS DAYMGCDQEY KFSVDVKEAE TDSDSD
Length:2,136
Mass (Da):244,508
Last modified:December 7, 2004 - v2
Checksum:i3F3811BDCCC9DDB7
GO
Isoform 2 (identifier: O75643-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     561-2071: Missing.

Note: No experimental confirmation available.
Show »
Length:625
Mass (Da):71,472
Checksum:iEDC83DE90411A495
GO

Sequence cautioni

The sequence BAB14906 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti588C → F in AAH65924 (PubMed:15489334).Curated1
Sequence conflicti613I → V in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti802A → G in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti840R → H in BAB14906 (PubMed:14702039).Curated1
Sequence conflicti1322Q → R in BAB14906 (PubMed:14702039).Curated1
Sequence conflicti1371S → N in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti1383 – 1386EALA → RLWQ in CAA94089 (PubMed:8670905).Curated4
Sequence conflicti1476Y → N in BAB14906 (PubMed:14702039).Curated1
Sequence conflicti1547Y → F in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti1667Q → L in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti1956K → E in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti1961 – 1962KQ → RR in CAA94089 (PubMed:8670905).Curated2
Sequence conflicti1965 – 1971HFTSEHI → PFPSGLF in CAA94089 (PubMed:8670905).Curated7
Sequence conflicti2031S → R in BAB14906 (PubMed:14702039).Curated1
Sequence conflicti2065W → L in AAH65924 (PubMed:15489334).Curated1
Sequence conflicti2101 – 2104AHNY → GRHN in CAA94089 (PubMed:8670905).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071689502C → R in RP33. 1 Publication1
Natural variantiVAR_071690542A → V in RP33. 1 Publication1
Natural variantiVAR_065587681R → C in RP33. 2 Publications1
Natural variantiVAR_065588681R → H in RP33. 2 PublicationsCorresponds to variant rs527236113dbSNPEnsembl.1
Natural variantiVAR_071691682P → S in RP33. 1 Publication1
Natural variantiVAR_065589683V → L in RP33; unknown pathological significance. 1 PublicationCorresponds to variant rs527236114dbSNPEnsembl.1
Natural variantiVAR_065590689Y → C in RP33. 1 Publication1
Natural variantiVAR_071692698I → V in RP33. 1 Publication1
Natural variantiVAR_071693885Q → E in RP33. 1 PublicationCorresponds to variant rs397514575dbSNPEnsembl.1
Natural variantiVAR_0635391087S → L in RP33; strongly reduced RNA helicase activity. 5 PublicationsCorresponds to variant rs267607077dbSNPEnsembl.1
Natural variantiVAR_0635401090R → L in RP33. 1 PublicationCorresponds to variant rs397514574dbSNPEnsembl.1
Natural variantiVAR_0359431736F → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0716941779R → H in RP33. 1 PublicationCorresponds to variant rs749546665dbSNPEnsembl.1
Natural variantiVAR_0716951995A → T.1 PublicationCorresponds to variant rs201691299dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_026622561 – 2071Missing in isoform 2. 1 PublicationAdd BLAST1511

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY572488 mRNA. Translation: AAS78571.1.
AK024391 mRNA. Translation: BAB14906.1. Different initiation.
AK090671 mRNA. Translation: BAC03499.1.
AB018331 mRNA. Translation: BAA34508.2.
Z70200 Genomic DNA. Translation: CAA94089.1.
BC065924 mRNA. Translation: AAH65924.1.
BC007577 mRNA. Translation: AAH07577.1.
CCDSiCCDS2020.1. [O75643-1]
RefSeqiNP_054733.2. NM_014014.4. [O75643-1]
XP_016859092.1. XM_017003603.1. [O75643-1]
UniGeneiHs.246112.

Genome annotation databases

EnsembliENST00000323853; ENSP00000317123; ENSG00000144028. [O75643-1]
GeneIDi23020.
KEGGihsa:23020.
UCSCiuc002svu.4. human. [O75643-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY572488 mRNA. Translation: AAS78571.1.
AK024391 mRNA. Translation: BAB14906.1. Different initiation.
AK090671 mRNA. Translation: BAC03499.1.
AB018331 mRNA. Translation: BAA34508.2.
Z70200 Genomic DNA. Translation: CAA94089.1.
BC065924 mRNA. Translation: AAH65924.1.
BC007577 mRNA. Translation: AAH07577.1.
CCDSiCCDS2020.1. [O75643-1]
RefSeqiNP_054733.2. NM_014014.4. [O75643-1]
XP_016859092.1. XM_017003603.1. [O75643-1]
UniGeneiHs.246112.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2Q0ZX-ray2.00X1808-2136[»]
3JCRelectron microscopy7.00C1-2136[»]
4F91X-ray2.70B402-2125[»]
4F92X-ray2.66B402-2125[»]
4F93X-ray2.92B402-2125[»]
4KITX-ray3.60B395-2129[»]
ProteinModelPortaliO75643.
SMRiO75643.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116661. 177 interactors.
DIPiDIP-31659N.
IntActiO75643. 59 interactors.
MINTiMINT-5003904.
STRINGi9606.ENSP00000317123.

PTM databases

iPTMnetiO75643.
PhosphoSitePlusiO75643.
SwissPalmiO75643.

Polymorphism and mutation databases

BioMutaiSNRNP200.

Proteomic databases

EPDiO75643.
MaxQBiO75643.
PaxDbiO75643.
PeptideAtlasiO75643.
PRIDEiO75643.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323853; ENSP00000317123; ENSG00000144028. [O75643-1]
GeneIDi23020.
KEGGihsa:23020.
UCSCiuc002svu.4. human. [O75643-1]

Organism-specific databases

CTDi23020.
DisGeNETi23020.
GeneCardsiSNRNP200.
GeneReviewsiSNRNP200.
H-InvDBHIX0002273.
HGNCiHGNC:30859. SNRNP200.
HPAiHPA029321.
MalaCardsiSNRNP200.
MIMi601664. gene.
610359. phenotype.
neXtProtiNX_O75643.
OpenTargetsiENSG00000144028.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA164726004.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0952. Eukaryota.
COG1204. LUCA.
GeneTreeiENSGT00640000091272.
HOVERGENiHBG051896.
InParanoidiO75643.
KOiK12854.
OMAiKKMENWW.
OrthoDBiEOG091G0HE5.
PhylomeDBiO75643.
TreeFamiTF300056.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000144028-MONOMER.
ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.
R-HSA-72165. mRNA Splicing - Minor Pathway.

Miscellaneous databases

ChiTaRSiSNRNP200. human.
EvolutionaryTraceiO75643.
GeneWikiiASCC3L1.
GenomeRNAii23020.
PROiO75643.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144028.
CleanExiHS_SNRNP200.
ExpressionAtlasiO75643. baseline and differential.
GenevisibleiO75643. HS.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
3.40.50.300. 4 hits.
InterProiIPR000008. C2_dom.
IPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR014756. Ig_E-set.
IPR027417. P-loop_NTPase.
IPR004179. Sec63-dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00270. DEAD. 2 hits.
PF00271. Helicase_C. 1 hit.
PF02889. Sec63. 2 hits.
[Graphical view]
SMARTiSM00487. DEXDc. 2 hits.
SM00490. HELICc. 2 hits.
SM00973. Sec63. 2 hits.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 2 hits.
SSF52540. SSF52540. 4 hits.
SSF81296. SSF81296. 1 hit.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 2 hits.
PS51194. HELICASE_CTER. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiU520_HUMAN
AccessioniPrimary (citable) accession number: O75643
Secondary accession number(s): O94884
, Q6NZY0, Q6PX59, Q8NBE6, Q96IF2, Q9H7S0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 7, 2004
Last modified: November 30, 2016
This is version 177 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

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