Entity Details

Primary name U520_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75643
EntryNameU520_HUMAN
FullNameU5 small nuclear ribonucleoprotein 200 kDa helicase
TaxID9606
Evidenceevidence at protein level
Length2136
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesSNRNP200

GO terms

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GOName
GO:0000354 cis assembly of pre-catalytic spliceosome
GO:0000388 spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)
GO:0000398 mRNA splicing, via spliceosome
GO:0001649 osteoblast differentiation
GO:0003723 RNA binding
GO:0003724 RNA helicase activity
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005682 U5 snRNP
GO:0016020 membrane
GO:0042802 identical protein binding
GO:0046540 U4/U6 x U5 tri-snRNP complex
GO:0071005 U2-type precatalytic spliceosome
GO:0071006 U2-type catalytic step 1 spliceosome
GO:0071013 catalytic step 2 spliceosome

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001650 Helicase, C-terminalDomainDomain
IPR004179 Sec63 domainDomainDomain
IPR011545 DEAD/DEAH box helicase domainDomainDomain
IPR014001 Helicase superfamily 1/2, ATP-binding domainDomainDomain
IPR014756 Immunoglobulin E-setFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR035892 C2 domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily
IPR041094 Brr2, N-terminal helicase PWI domainDomainDomain

Diseases

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Disease IDSourceNameDescription
610359 OMIMRetinitis pigmentosa 33 (RP33)A 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

72 interactions

InteractorPartnerSourcesPublicationsLink
U520_HUMANMEG10_HUMANBioGRID, HPRD, IntAct12421765 details
U520_HUMANSNR40_HUMANBioGRID, IntAct, UniProt16723661 17353931 22939629 26186194 26344197 28514442 9774689 details
U520_HUMANPRP8_HUMANBioGRID, DIP, IntAct, UniProt16723661 17317632 22939629 23704370 26344197 27173435 28515276 31914407 34079125 9774689 unassigned1312 details
U520_HUMANGRB2_HUMANBioGRID, IntAct18624398 details
U520_HUMANSNW1_HUMANBioGRID, MINT, UniProt12840015 20467437 25849387 26344197 details
U520_HUMANU520_HUMANBioGRID, MINT16723661 22365833 25849387 details
U520_HUMANR113A_HUMANBioGRID, MINT22365833 details
U520_HUMANSF3B2_HUMANBioGRID, MINT22365833 25849387 details
U520_HUMANLSM8_HUMANBioGRID, MINT22365833 details
U520_HUMANHSPB1_HUMANBioGRID, IntAct25277244 details
U520_HUMANCHM1B_HUMANBioGRID, HPRD, IntAct16730941 details
U520_HUMANDUX4_HUMANBioGRID, IntAct26816005 details
U520_HUMANPRP6_HUMANBioGRID, IntAct, UniProt16723661 22939629 26344197 27173435 unassigned1312 details
U520_HUMANGNMT_HUMANBioGRID, IntAct32296183 details
U520_HUMANU5S1_HUMANBioGRID, IntAct, UniProt16723661 22939629 25263594 25849387 26344197 27173435 28515276 unassigned1312 details
U520_HUMANPRPF3_HUMANBioGRID, IntAct25849387 28514442 details
U520_HUMANWBP4_HUMANBioGRID, IntAct28838205 details
U520_HUMANSNUT1_HUMANBioGRID, UniProt16723661 26344197 details
U520_HUMANAPC_HUMANBioGRID20936779 details
U520_HUMANROA1_HUMANBioGRID22446626 25849387 details
U520_HUMANSF3B3_HUMANBioGRID22939629 25849387 details
U520_HUMANSPF27_HUMANBioGRID22939629 25849387 details
U520_HUMANBARD1_HUMANBioGRID22990118 details
U520_HUMANBRCA1_HUMANBioGRID22990118 26831064 details
U520_HUMANECT2_HUMANBioGRID22990118 31586073 details
U520_HUMANUBP19_HUMANBioGRID23500468 details
U520_HUMANPIN1_HUMANBioGRID16055720 details
U520_HUMANERG_HUMANBioGRID24591637 details
U520_HUMANUBC9_HUMANBioGRID19596686 details
U520_HUMANPRP31_HUMANBioGRID25849387 26344197 details
U520_HUMANMATR3_HUMANBioGRID25849387 29511296 29884807 details
U520_HUMANPRP16_HUMANBioGRID25849387 details
U520_HUMANPTEN_HUMANBioGRID31685992 details
U520_HUMANSUMO2_HUMANBioGRID32786267 details
U520_HUMANCBP_HUMANBioGRID32238831 details
U520_HUMAN1433B_HUMANHPRD, IntAct, MINT15324660 17353931 details
U520_HUMAN1433G_HUMANBioGRID, HPRD, IntAct, MINT15324660 17353931 details
U520_HUMANCD2B2_HUMANBioGRID, IntAct17353931 22939629 26344197 27173435 28514442 28561026 unassigned1312 details
U520_HUMANCASP4_HUMANIntAct17353931 details
U520_HUMANVHL_HUMANIntAct17353931 details
U520_HUMANCIAO1_HUMANIntAct17353931 details
U520_HUMANIKKE_HUMANIntAct17353931 details
U520_HUMANEPB41_HUMANIntAct17353931 details
U520_HUMANSF3A2_HUMANBioGRID, MINT17332742 26344197 details
U520_HUMANSMAD2_HUMANIntAct20195357 details
U520_HUMANCDC5L_HUMANBioGRID, MINT17332742 20467437 22939629 29395067 details
U520_HUMANRIOK1_HUMANBioGRID, IntAct21081503 27173435 unassigned1312 details
U520_HUMANSMU1_HUMANBioGRID, IntAct27173435 unassigned1312 details
U520_HUMANDISC1_HUMANIntAct31413325 details
U520_HUMANSPF30_HUMANBioGRID, HPRD11331595 details
U520_HUMANSRRM1_HUMANBioGRID16159877 details
U520_HUMANHDAC5_HUMANBioGRID21081666 details
U520_HUMANRBM39_HUMANBioGRID16051665 28302793 details
U520_HUMANISG15_HUMANBioGRID16009940 33024031 details
U520_HUMANU2AF2_HUMANBioGRID22939629 26641092 details
U520_HUMANRBM5_HUMANBioGRID22569250 details
U520_HUMANITA4_HUMANBioGRID22623428 details
U520_HUMANPHF6_HUMANBioGRID22720776 details
U520_HUMANSIR6_HUMANBioGRID24169447 details
U520_HUMANTTC27_HUMANBioGRID26472760 details
U520_HUMANCA131_HUMANBioGRID26472760 details
U520_HUMANTLS1_HUMANBioGRID26472760 details
U520_HUMANDPF3_HUMANBioGRID26582913 details
U520_HUMANZNHI2_HUMANBioGRID28561026 details
U520_HUMANFGF11_HUMANBioGRID28027390 details
U520_HUMANSMC1A_HUMANBioGRID31010829 details
U520_HUMANSMC3_HUMANBioGRID31010829 details
U520_HUMANSTAG2_HUMANBioGRID31010829 details
U520_HUMANPDS5A_HUMANBioGRID31010829 details
U520_HUMANNIPBL_HUMANBioGRID31010829 details
U520_HUMANSTAG1_HUMANBioGRID31010829 details
U520_HUMANWAPL_HUMANBioGRID31010829 details