Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - O75643 (U520_HUMAN)

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
View the complete GO annotation on QuickGO ...

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
View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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

View the complete GO annotation on QuickGO ...

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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again