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Protein

U5 small nuclear ribonucleoprotein 200 kDa helicase

Gene

SNRNP200

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • identical protein binding Source: IntAct
  • 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
  • spliceosome conformational change to release U4 (or U4atac) and U1 (or U11) Source: GO_Central

Keywordsi

Molecular functionHelicase, Hydrolase
Biological processmRNA processing, mRNA splicing
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000144028.14
HGNCiHGNC:30859 SNRNP200
MIMi601664 gene
neXtProtiNX_O75643

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 33 (RP33)8 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 PublicationsCorresponds to variant dbSNP:rs959069360Ensembl.1
Natural variantiVAR_065588681R → H in RP33. 2 PublicationsCorresponds to variant dbSNP:rs527236113EnsemblClinVar.1
Natural variantiVAR_071691682P → S in RP33. 1 Publication1
Natural variantiVAR_065589683V → L in RP33; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs527236114EnsemblClinVar.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 dbSNP:rs397514575EnsemblClinVar.1
Natural variantiVAR_0635391087S → L in RP33; strongly reduced RNA helicase activity. 5 PublicationsCorresponds to variant dbSNP:rs267607077EnsemblClinVar.1
Natural variantiVAR_0635401090R → L in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514574EnsemblClinVar.1
Natural variantiVAR_0716941779R → H in RP33. 1 PublicationCorresponds to variant dbSNP:rs749546665Ensembl.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
GeneReviewsiSNRNP200
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
Cross-linki46Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei225PhosphoserineCombined sources1
Modified residuei389PhosphothreonineCombined sources1
Modified residuei709PhosphotyrosineBy similarity1
Modified residuei971N6-acetyllysineCombined sources1
Modified residuei1428PhosphothreonineCombined sources1
Modified residuei1765PhosphothreonineBy similarity1
Modified residuei2002PhosphoserineCombined sources1
Modified residuei2131PhosphothreonineCombined sources1
Modified residuei2133PhosphoserineCombined sources1
Modified residuei2135PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO75643
MaxQBiO75643
PaxDbiO75643
PeptideAtlasiO75643
PRIDEiO75643
ProteomicsDBi50136
50137 [O75643-2]

PTM databases

CarbonylDBiO75643
iPTMnetiO75643
PhosphoSitePlusiO75643
SwissPalmiO75643

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000144028 Expressed in 244 organ(s), highest expression level in metanephros
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116661, 195 interactors
CORUMiO75643
DIPiDIP-31659N
IntActiO75643, 65 interactors
MINTiO75643
STRINGi9606.ENSP00000317123

Structurei

Secondary structure

12136
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0952 Eukaryota
COG1204 LUCA
GeneTreeiENSGT00640000091272
HOVERGENiHBG051896
InParanoidiO75643
KOiK12854
OMAiTLCKMID
OrthoDBiEOG091G0HE5
PhylomeDBiO75643
TreeFamiTF300056

Family and domain databases

CDDicd00079 HELICc, 2 hits
Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR035892 C2_domain_sf
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014756 Ig_E-set
IPR027417 P-loop_NTPase
IPR004179 Sec63-dom
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 2 hits
PF00271 Helicase_C, 1 hit
PF02889 Sec63, 2 hits
SMARTiView protein in SMART
SM00487 DEXDc, 2 hits
SM00490 HELICc, 2 hits
SM00973 Sec63, 2 hits
SUPFAMiSSF46785 SSF46785, 2 hits
SSF52540 SSF52540, 4 hits
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 2 hits
PS51194 HELICASE_CTER, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4E0P5B4E0P5_HUMAN
U5 small nuclear ribonucleoprotein ...
SNRNP200
595Annotation score:

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 PublicationsCorresponds to variant dbSNP:rs959069360Ensembl.1
Natural variantiVAR_065588681R → H in RP33. 2 PublicationsCorresponds to variant dbSNP:rs527236113EnsemblClinVar.1
Natural variantiVAR_071691682P → S in RP33. 1 Publication1
Natural variantiVAR_065589683V → L in RP33; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs527236114EnsemblClinVar.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 dbSNP:rs397514575EnsemblClinVar.1
Natural variantiVAR_0635391087S → L in RP33; strongly reduced RNA helicase activity. 5 PublicationsCorresponds to variant dbSNP:rs267607077EnsemblClinVar.1
Natural variantiVAR_0635401090R → L in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514574EnsemblClinVar.1
Natural variantiVAR_0359431736F → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0716941779R → H in RP33. 1 PublicationCorresponds to variant dbSNP:rs749546665Ensembl.1
Natural variantiVAR_0716951995A → T1 PublicationCorresponds to variant dbSNP:rs201691299EnsemblClinVar.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
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

Similar proteinsi

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
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[»]
5O9Zelectron microscopy4.50C1-2136[»]
5URJX-ray2.75A395-2129[»]
5URKX-ray2.95A395-2129[»]
5URMX-ray2.80A/B395-2129[»]
5XJCelectron microscopy3.60D1-2136[»]
5YZGelectron microscopy4.10D1-2136[»]
5Z56electron microscopy5.10D1-2136[»]
5Z57electron microscopy6.50D1-2136[»]
5Z58electron microscopy4.90D1-2136[»]
ProteinModelPortaliO75643
SMRiO75643
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116661, 195 interactors
CORUMiO75643
DIPiDIP-31659N
IntActiO75643, 65 interactors
MINTiO75643
STRINGi9606.ENSP00000317123

PTM databases

CarbonylDBiO75643
iPTMnetiO75643
PhosphoSitePlusiO75643
SwissPalmiO75643

Polymorphism and mutation databases

BioMutaiSNRNP200

Proteomic databases

EPDiO75643
MaxQBiO75643
PaxDbiO75643
PeptideAtlasiO75643
PRIDEiO75643
ProteomicsDBi50136
50137 [O75643-2]

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
EuPathDBiHostDB:ENSG00000144028.14
GeneCardsiSNRNP200
GeneReviewsiSNRNP200
H-InvDBiHIX0002273
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
OMAiTLCKMID
OrthoDBiEOG091G0HE5
PhylomeDBiO75643
TreeFamiTF300056

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

Miscellaneous databases

ChiTaRSiSNRNP200 human
EvolutionaryTraceiO75643
GeneWikiiASCC3L1
GenomeRNAii23020
PROiPR:O75643
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144028 Expressed in 244 organ(s), highest expression level in metanephros
CleanExiHS_SNRNP200
ExpressionAtlasiO75643 baseline and differential
GenevisibleiO75643 HS

Family and domain databases

CDDicd00079 HELICc, 2 hits
Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR035892 C2_domain_sf
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014756 Ig_E-set
IPR027417 P-loop_NTPase
IPR004179 Sec63-dom
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 2 hits
PF00271 Helicase_C, 1 hit
PF02889 Sec63, 2 hits
SMARTiView protein in SMART
SM00487 DEXDc, 2 hits
SM00490 HELICc, 2 hits
SM00973 Sec63, 2 hits
SUPFAMiSSF46785 SSF46785, 2 hits
SSF52540 SSF52540, 4 hits
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 2 hits
PS51194 HELICASE_CTER, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiU520_HUMAN
AccessioniPrimary (citable) accession number: O75643
Secondary accession number(s): O94884
, Q6NZY0, Q6PX59, Q8NBE6, Q96IF2, Q9H7S0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 7, 2004
Last modified: November 7, 2018
This is version 198 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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