UniProtKB - O75643 (U520_HUMAN)
U5 small nuclear ribonucleoprotein 200 kDa helicase
SNRNP200
Functioni
Catalytic activityi
- EC:3.6.4.131 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 503 – 510 | ATPPROSITE-ProRule annotationCombined sources1 Publication | 8 | |
Nucleotide bindingi | 1350 – 1357 | ATPPROSITE-ProRule annotationCombined sources1 Publication | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- helicase activity Source: HGNC-UCL
- identical protein binding Source: IntAct
- RNA binding Source: UniProtKB
- RNA helicase activity Source: UniProtKB
GO - Biological processi
- cis assembly of pre-catalytic spliceosome Source: HGNC-UCL
- 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 function | Helicase, Hydrolase |
Biological process | mRNA processing, mRNA splicing |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O75643 |
Reactomei | R-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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:30859, SNRNP200 |
MIMi | 601664, gene |
neXtProti | NX_O75643 |
VEuPathDBi | HostDB:ENSG00000144028.14 |
Subcellular locationi
Nucleus
- Nucleus 9 Publications
Nucleus
- catalytic step 2 spliceosome Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- spliceosomal complex Source: UniProtKB
- U2-type catalytic step 1 spliceosome Source: UniProtKB
- U2-type precatalytic spliceosome Source: UniProtKB
- U4/U6 x U5 tri-snRNP complex Source: CAFA
- U5 snRNP Source: HGNC-UCL
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 33 (RP33)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071689 | 502 | C → R in RP33. 1 Publication | 1 | |
Natural variantiVAR_071690 | 542 | A → V in RP33. 1 Publication | 1 | |
Natural variantiVAR_065587 | 681 | R → C in RP33. 2 PublicationsCorresponds to variant dbSNP:rs959069360EnsemblClinVar. | 1 | |
Natural variantiVAR_065588 | 681 | R → H in RP33. 2 PublicationsCorresponds to variant dbSNP:rs527236113EnsemblClinVar. | 1 | |
Natural variantiVAR_071691 | 682 | P → S in RP33. 1 Publication | 1 | |
Natural variantiVAR_065589 | 683 | V → L in RP33; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs527236114EnsemblClinVar. | 1 | |
Natural variantiVAR_065590 | 689 | Y → C in RP33. 1 Publication | 1 | |
Natural variantiVAR_071692 | 698 | I → V in RP33. 1 PublicationCorresponds to variant dbSNP:rs1457428682Ensembl. | 1 | |
Natural variantiVAR_071693 | 885 | Q → E in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514575EnsemblClinVar. | 1 | |
Natural variantiVAR_063539 | 1087 | S → L in RP33; strongly reduced RNA helicase activity. 5 PublicationsCorresponds to variant dbSNP:rs267607077EnsemblClinVar. | 1 | |
Natural variantiVAR_063540 | 1090 | R → L in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514574EnsemblClinVar. | 1 | |
Natural variantiVAR_071694 | 1779 | R → H in RP33. 1 PublicationCorresponds to variant dbSNP:rs749546665Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 603 | R → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication | 1 | |
Mutagenesisi | 637 | R → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication | 1 | |
Mutagenesisi | 1544 | K → A: Decreased ATP-dependent RNA helicase activity. 1 Publication | 1 | |
Mutagenesisi | 1548 | H → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication | 1 | |
Mutagenesisi | 1578 | T → A: Decreased ATP-dependent RNA helicase activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 23020 |
GeneReviewsi | SNRNP200 |
MalaCardsi | SNRNP200 |
MIMi | 610359, phenotype |
OpenTargetsi | ENSG00000144028 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA164726004 |
Miscellaneous databases
Pharosi | O75643, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4105972 |
Genetic variation databases
BioMutai | SNRNP200 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000102087 | 1 – 2136 | U5 small nuclear ribonucleoprotein 200 kDa helicaseAdd BLAST | 2136 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 17 | PhosphoserineCombined sources | 1 | |
Modified residuei | 26 | PhosphoserineCombined sources | 1 | |
Cross-linki | 46 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 225 | PhosphoserineCombined sources | 1 | |
Modified residuei | 389 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 709 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 971 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 1428 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1765 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 2002 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2131 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 2133 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2135 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | O75643 |
jPOSTi | O75643 |
MassIVEi | O75643 |
MaxQBi | O75643 |
PaxDbi | O75643 |
PeptideAtlasi | O75643 |
PRIDEi | O75643 |
ProteomicsDBi | 50136 [O75643-1] 50137 [O75643-2] |
PTM databases
CarbonylDBi | O75643 |
iPTMneti | O75643 |
MetOSitei | O75643 |
PhosphoSitePlusi | O75643 |
SwissPalmi | O75643 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000144028, Expressed in metanephros and 255 other tissues |
ExpressionAtlasi | O75643, baseline and differential |
Genevisiblei | O75643, HS |
Organism-specific databases
HPAi | ENSG00000144028, Low tissue specificity |
Interactioni
Subunit structurei
Component of a core complex containing at least PRPF8, SNRNP200, EFTUD2 and SNRNP40.
Component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes, building blocks of the spliceosome.
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 (PubMed:16723661, PubMed:8670905, PubMed:26912367).
Component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154).
13 PublicationsBinary interactionsi
Hide detailsO75643
Isoform 1 [O75643-1]
With | #Exp. | IntAct |
---|---|---|
PRPF8 [Q6P2Q9] | 2 | EBI-5456052,EBI-538479 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 116661, 288 interactors |
CORUMi | O75643 |
DIPi | DIP-31659N |
IntActi | O75643, 117 interactors |
MINTi | O75643 |
STRINGi | 9606.ENSP00000317123 |
Chemistry databases
BindingDBi | O75643 |
Miscellaneous databases
RNActi | O75643, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O75643 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O75643 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 490 – 673 | Helicase ATP-binding 1PROSITE-ProRule annotationAdd BLAST | 184 | |
Domaini | 684 – 921 | Helicase C-terminal 1PROSITE-ProRule annotationAdd BLAST | 238 | |
Domaini | 981 – 1286 | SEC63 1Add BLAST | 306 | |
Domaini | 1337 – 1512 | Helicase ATP-binding 2PROSITE-ProRule annotationAdd BLAST | 176 | |
Domaini | 1545 – 1753 | Helicase C-terminal 2PROSITE-ProRule annotationAdd BLAST | 209 | |
Domaini | 1812 – 2124 | SEC63 2Add BLAST | 313 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 54 – 84 | Sequence analysisAdd BLAST | 31 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 615 – 618 | DEIH box | 4 | |
Motifi | 1454 – 1457 | DEVH box | 4 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG0951, Eukaryota |
GeneTreei | ENSGT00940000154966 |
HOGENOMi | CLU_000335_2_1_1 |
InParanoidi | O75643 |
OMAi | KKMENWW |
OrthoDBi | 154891at2759 |
PhylomeDBi | O75643 |
TreeFami | TF300056 |
Family and domain databases
Gene3Di | 2.60.40.150, 2 hits |
InterProi | View protein in InterPro IPR041094, Brr2_helicase_PWI 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 |
Pfami | View protein in Pfam PF00270, DEAD, 2 hits PF00271, Helicase_C, 1 hit PF18149, Helicase_PWI, 1 hit PF02889, Sec63, 2 hits |
SMARTi | View protein in SMART SM00487, DEXDc, 2 hits SM00490, HELICc, 2 hits SM00973, Sec63, 2 hits |
SUPFAMi | SSF46785, SSF46785, 2 hits SSF52540, SSF52540, 4 hits SSF81296, SSF81296, 1 hit |
PROSITEi | View protein in PROSITE PS51192, HELICASE_ATP_BIND_1, 2 hits PS51194, HELICASE_CTER, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A494C1A5 | A0A494C1A5_HUMAN | U5 small nuclear ribonucleoprotein ... | SNRNP200 | 1,375 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 588 | C → F in AAH65924 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 613 | I → V in CAA94089 (PubMed:8670905).Curated | 1 | |
Sequence conflicti | 802 | A → G in CAA94089 (PubMed:8670905).Curated | 1 | |
Sequence conflicti | 840 | R → H in BAB14906 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1322 | Q → R in BAB14906 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1371 | S → N in CAA94089 (PubMed:8670905).Curated | 1 | |
Sequence conflicti | 1383 – 1386 | EALA → RLWQ in CAA94089 (PubMed:8670905).Curated | 4 | |
Sequence conflicti | 1476 | Y → N in BAB14906 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1547 | Y → F in CAA94089 (PubMed:8670905).Curated | 1 | |
Sequence conflicti | 1667 | Q → L in CAA94089 (PubMed:8670905).Curated | 1 | |
Sequence conflicti | 1956 | K → E in CAA94089 (PubMed:8670905).Curated | 1 | |
Sequence conflicti | 1961 – 1962 | KQ → RR in CAA94089 (PubMed:8670905).Curated | 2 | |
Sequence conflicti | 1965 – 1971 | HFTSEHI → PFPSGLF in CAA94089 (PubMed:8670905).Curated | 7 | |
Sequence conflicti | 2031 | S → R in BAB14906 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 2065 | W → L in AAH65924 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2101 – 2104 | AHNY → GRHN in CAA94089 (PubMed:8670905).Curated | 4 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071689 | 502 | C → R in RP33. 1 Publication | 1 | |
Natural variantiVAR_071690 | 542 | A → V in RP33. 1 Publication | 1 | |
Natural variantiVAR_065587 | 681 | R → C in RP33. 2 PublicationsCorresponds to variant dbSNP:rs959069360EnsemblClinVar. | 1 | |
Natural variantiVAR_065588 | 681 | R → H in RP33. 2 PublicationsCorresponds to variant dbSNP:rs527236113EnsemblClinVar. | 1 | |
Natural variantiVAR_071691 | 682 | P → S in RP33. 1 Publication | 1 | |
Natural variantiVAR_065589 | 683 | V → L in RP33; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs527236114EnsemblClinVar. | 1 | |
Natural variantiVAR_065590 | 689 | Y → C in RP33. 1 Publication | 1 | |
Natural variantiVAR_071692 | 698 | I → V in RP33. 1 PublicationCorresponds to variant dbSNP:rs1457428682Ensembl. | 1 | |
Natural variantiVAR_071693 | 885 | Q → E in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514575EnsemblClinVar. | 1 | |
Natural variantiVAR_063539 | 1087 | S → L in RP33; strongly reduced RNA helicase activity. 5 PublicationsCorresponds to variant dbSNP:rs267607077EnsemblClinVar. | 1 | |
Natural variantiVAR_063540 | 1090 | R → L in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514574EnsemblClinVar. | 1 | |
Natural variantiVAR_035943 | 1736 | F → L in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_071694 | 1779 | R → H in RP33. 1 PublicationCorresponds to variant dbSNP:rs749546665Ensembl. | 1 | |
Natural variantiVAR_071695 | 1995 | A → T1 PublicationCorresponds to variant dbSNP:rs201691299EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026622 | 561 – 2071 | Missing in isoform 2. 1 PublicationAdd BLAST | 1511 |
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 |
CCDSi | CCDS2020.1 [O75643-1] |
RefSeqi | NP_054733.2, NM_014014.4 [O75643-1] XP_016859092.1, XM_017003603.1 |
Genome annotation databases
Ensembli | ENST00000323853; ENSP00000317123; ENSG00000144028 [O75643-1] |
GeneIDi | 23020 |
KEGGi | hsa:23020 |
UCSCi | uc002svu.4, human [O75643-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS2020.1 [O75643-1] |
RefSeqi | NP_054733.2, NM_014014.4 [O75643-1] XP_016859092.1, XM_017003603.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2Q0Z | X-ray | 2.00 | X | 1808-2136 | [»] | |
3JCR | electron microscopy | 7.00 | C | 1-2136 | [»] | |
4F91 | X-ray | 2.70 | B | 402-2125 | [»] | |
4F92 | X-ray | 2.66 | B | 402-2125 | [»] | |
4F93 | X-ray | 2.92 | B | 402-2125 | [»] | |
4KIT | X-ray | 3.60 | B | 395-2129 | [»] | |
5O9Z | electron microscopy | 4.50 | C | 1-2136 | [»] | |
5URJ | X-ray | 2.75 | A | 395-2129 | [»] | |
5URK | X-ray | 2.95 | A | 395-2129 | [»] | |
5URM | X-ray | 2.80 | A/B | 395-2129 | [»] | |
5XJC | electron microscopy | 3.60 | D | 1-2136 | [»] | |
5YZG | electron microscopy | 4.10 | D | 1-2136 | [»] | |
5Z56 | electron microscopy | 5.10 | D | 1-2136 | [»] | |
5Z57 | electron microscopy | 6.50 | D | 1-2136 | [»] | |
5Z58 | electron microscopy | 4.90 | D | 1-2136 | [»] | |
6AH0 | electron microscopy | 5.70 | D | 1-2136 | [»] | |
6FF7 | electron microscopy | 4.50 | r | 1-2136 | [»] | |
6ICZ | electron microscopy | 3.00 | D | 1-2136 | [»] | |
6QDV | electron microscopy | 3.30 | B | 404-2125 | [»] | |
6QW6 | electron microscopy | 2.92 | 5B | 1-2136 | [»] | |
6QX9 | electron microscopy | 3.28 | 5B | 1-2136 | [»] | |
6S8O | X-ray | 3.17 | B | 394-2136 | [»] | |
6S8Q | X-ray | 2.39 | B | 394-2136 | [»] | |
6S9I | X-ray | 2.60 | B | 394-2136 | [»] | |
7A5P | electron microscopy | 5.00 | q | 1-2136 | [»] | |
7ABG | electron microscopy | 7.80 | s | 1-2136 | [»] | |
SMRi | O75643 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116661, 288 interactors |
CORUMi | O75643 |
DIPi | DIP-31659N |
IntActi | O75643, 117 interactors |
MINTi | O75643 |
STRINGi | 9606.ENSP00000317123 |
Chemistry databases
BindingDBi | O75643 |
ChEMBLi | CHEMBL4105972 |
PTM databases
CarbonylDBi | O75643 |
iPTMneti | O75643 |
MetOSitei | O75643 |
PhosphoSitePlusi | O75643 |
SwissPalmi | O75643 |
Genetic variation databases
BioMutai | SNRNP200 |
Proteomic databases
EPDi | O75643 |
jPOSTi | O75643 |
MassIVEi | O75643 |
MaxQBi | O75643 |
PaxDbi | O75643 |
PeptideAtlasi | O75643 |
PRIDEi | O75643 |
ProteomicsDBi | 50136 [O75643-1] 50137 [O75643-2] |
Protocols and materials databases
Antibodypediai | 32425, 74 antibodies |
Genome annotation databases
Ensembli | ENST00000323853; ENSP00000317123; ENSG00000144028 [O75643-1] |
GeneIDi | 23020 |
KEGGi | hsa:23020 |
UCSCi | uc002svu.4, human [O75643-1] |
Organism-specific databases
CTDi | 23020 |
DisGeNETi | 23020 |
GeneCardsi | SNRNP200 |
GeneReviewsi | SNRNP200 |
HGNCi | HGNC:30859, SNRNP200 |
HPAi | ENSG00000144028, Low tissue specificity |
MalaCardsi | SNRNP200 |
MIMi | 601664, gene 610359, phenotype |
neXtProti | NX_O75643 |
OpenTargetsi | ENSG00000144028 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA164726004 |
VEuPathDBi | HostDB:ENSG00000144028.14 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0951, Eukaryota |
GeneTreei | ENSGT00940000154966 |
HOGENOMi | CLU_000335_2_1_1 |
InParanoidi | O75643 |
OMAi | KKMENWW |
OrthoDBi | 154891at2759 |
PhylomeDBi | O75643 |
TreeFami | TF300056 |
Enzyme and pathway databases
PathwayCommonsi | O75643 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway R-HSA-72165, mRNA Splicing - Minor Pathway |
Miscellaneous databases
BioGRID-ORCSi | 23020, 782 hits in 1001 CRISPR screens |
ChiTaRSi | SNRNP200, human |
EvolutionaryTracei | O75643 |
GeneWikii | ASCC3L1 |
GenomeRNAii | 23020 |
Pharosi | O75643, Tbio |
PROi | PR:O75643 |
RNActi | O75643, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000144028, Expressed in metanephros and 255 other tissues |
ExpressionAtlasi | O75643, baseline and differential |
Genevisiblei | O75643, HS |
Family and domain databases
Gene3Di | 2.60.40.150, 2 hits |
InterProi | View protein in InterPro IPR041094, Brr2_helicase_PWI 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 |
Pfami | View protein in Pfam PF00270, DEAD, 2 hits PF00271, Helicase_C, 1 hit PF18149, Helicase_PWI, 1 hit PF02889, Sec63, 2 hits |
SMARTi | View protein in SMART SM00487, DEXDc, 2 hits SM00490, HELICc, 2 hits SM00973, Sec63, 2 hits |
SUPFAMi | SSF46785, SSF46785, 2 hits SSF52540, SSF52540, 4 hits SSF81296, SSF81296, 1 hit |
PROSITEi | View protein in PROSITE PS51192, HELICASE_ATP_BIND_1, 2 hits PS51194, HELICASE_CTER, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | U520_HUMAN | |
Accessioni | O75643Primary (citable) accession number: O75643 Secondary accession number(s): O94884 Q9H7S0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | December 7, 2004 | |
Last modified: | April 7, 2021 | |
This is version 217 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families