| Entry |
|
| Gene name |
SNRNP200, ASCC3L1, BRR2, HELIC2, RP33, U5-200KD
|
| Definition |
small nuclear ribonucleoprotein 200kDa (U5) (EC:3.6.4.13)
|
| Orthology |
| pre-mRNA-splicing helicase BRR2 [EC: 3.6.4.13] |
|
| Organism |
|
| Pathway |
|
| Module |
| Spliceosome, 35S U5-snRNP |
|
| Disease |
| Retinitis pigmentosa (RP) |
|
| Class |
Genetic Information Processing; Transcription; Spliceosome [PATH: hsa03040]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Structure |
PDB: |
| Position |
2q11.2
|
| AA seq |
2136 aa  
MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGTRMGDKAQRTK
PQMQEERRAKRRKRDEDRHDINKMKGYTLLSEGIDEMVGIIYKPKTKETRETYEVLLSFI
QAALGDQPRDILCGAADEVLAVLKNEKLRDKERRKEIDLLLGQTDDTRYHVLVNLGKKIT
DYGGDKEIQNMDDNIDETYGVNVQFESDEEEGDEDVYGEVREEASDDDMEGDEAVVRCTL
SANLVASGELMSSKKKDLHPRDIDAFWLQRQLSRFYDDAIVSQKKADEVLEILKTASDDR
ECENQLVLLLGFNTFDFIKVLRQHRMMILYCTLLASAQSEAEKERIMGKMEADPELSKFL
YQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGGEALAPRQVLDLEDLVFTQGS
HFMANKRCQLPDGSFRRQRKGYEEVHVPALKPKPFGSEEQLLPVEKLPKYAQAGFEGFKT
LNRIQSKLYRAALETDENLLLCAPTGAGKTNVALMCMLREIGKHINMDGTINVDDFKIIY
IAPMRSLVQEMVGSFGKRLATYGITVAELTGDHQLCKEEISATQIIVCTPEKWDIITRKG
GERTYTQLVRLIILDEIHLLHDDRGPVLEALVARAIRNIEMTQEDVRLIGLSATLPNYED
VATFLRVDPAKGLFYFDNSFRPVPLEQTYVGITEKKAIKRFQIMNEIVYEKIMEHAGKNQ
VLVFVHSRKETGKTARAIRDMCLEKDTLGLFLREGSASTEVLRTEAEQCKNLELKDLLPY
GFAIHHAGMTRVDRTLVEDLFADKHIQVLVSTATLAWGVNLPAHTVIIKGTQVYSPEKGR
WTELGALDILQMLGRAGRPQYDTKGEGILITSHGELQYYLSLLNQQLPIESQMVSKLPDM
LNAEIVLGNVQNAKDAVNWLGYAYLYIRMLRSPTLYGISHDDLKGDPLLDQRRLDLVHTA
ALMLDKNNLVKYDKKTGNFQVTELGRIASHYYITNDTVQTYNQLLKPTLSEIELFRVFSL
SSEFKNITVREEEKLELQKLLERVPIPVKESIEEPSAKINVLLQAFISQLKLEGFALMAD
MVYVTQSAGRLMRAIFEIVLNRGWAQLTDKTLNLCKMIDKRMWQSMCPLRQFRKLPEEVV
KKIEKKNFPFERLYDLNHNEIGELIRMPKMGKTIHKYVHLFPKLELSVHLQPITRSTLKV
ELTITPDFQWDEKVHGSSEAFWILVEDVDSEVILHHEYFLLKAKYAQDEHLITFFVPVFE
PLPPQYFIRVVSDRWLSCETQLPVSFRHLILPEKYPPPTELLDLQPLPVSALRNSAFESL
YQDKFPFFNPIQTQVFNTVYNSDDNVFVGAPTGSGKTICAEFAILRMLLQSSEGRCVYIT
PMEALAEQVYMDWYEKFQDRLNKKVVLLTGETSTDLKLLGKGNIIISTPEKWDILSRRWK
QRKNVQNINLFVVDEVHLIGGENGPVLEVICSRMRYISSQIERPIRIVALSSSLSNAKDV
AHWLGCSATSTFNFHPNVRPVPLELHIQGFNISHTQTRLLSMAKPVYHAITKHSPKKPVI
VFVPSRKQTRLTAIDILTTCAADIQRQRFLHCTEKDLIPYLEKLSDSTLKETLLNGVGYL
HEGLSPMERRLVEQLFSSGAIQVVVASRSLCWGMNVAAHLVIIMDTQYYNGKIHAYVDYP
IYDVLQMVGHANRPLQDDEGRCVIMCQGSKKDFFKKFLYEPLPVESHLDHCMHDHFNAEI
VTKTIENKQDAVDYLTWTFLYRRMTQNPNYYNLQGISHRHLSDHLSELVEQTLSDLEQSK
CISIEDEMDVAPLNLGMIAAYYYINYTTIELFSMSLNAKTKVRGLIEIISNAAEYENIPI
RHHEDNLLRQLAQKVPHKLNNPKFNDPHVKTNLLLQAHLSRMQLSAELQSDTEEILSKAI
RLIQACVDVLSSNGWLSPALAAMELAQMVTQAMWSKDSYLKQLPHFTSEHIKRCTDKGVE
SVFDIMEMEDEERNALLQLTDSQIADVARFCNRYPNIELSYEVVDKDSIRSGGPVVVLVQ
LEREEEVTGPVIAPLFPQKREEGWWVVIGDAKSNSLISIKRLTLQQKAKVKLDFVAPATG
AHNYTLYFMSDAYMGCDQEYKFSVDVKEAETDSDSD |
| NT seq |
6411 nt  +upstreamnt +downstreamnt
atggcggatgtaaccgcccgtagtctgcaatacgagtacaaggcgaactcgaatcttgtg
ctccaagctgaccgttctctcattgaccggacccgccgggatgaacccacaggagaggtg
ctgtcccttgttgggaagctggagggcacccgtatgggagacaaggctcaacggaccaaa
ccgcagatgcaggaggaaagaagagccaagcgaagaaagcgtgatgaggaccggcatgac
atcaacaagatgaagggttatactctgctgtcggagggcattgatgagatggtgggcatc
atctacaagcccaaaactaaagagactcgggagacctatgaggtgctactcagcttcatc
caggctgctcttggggaccagccacgtgatatcctttgtggggcagctgatgaagttcta
gctgttctaaagaatgaaaagctgcgggacaaggaaaggcgaaaggagattgacctgctg
ctgggtcaaacagatgataccagataccatgtgctagtgaacctgggcaaaaagatcaca
gactatggtggagataaggaaatccaaaatatggatgacaacattgatgagacatacggt
gtgaatgtgcagtttgagtctgatgaggaggaaggtgatgaagacgtatacggggaggtt
cgagaagaggcatctgatgatgacatggaaggggacgaggctgtcgtgcgctgcaccctc
tcggctaatctcgtagcctcaggtgaactgatgagttccaagaagaaggatttgcaccct
cgggatattgatgcattttggctgcagcggcagctcagtcgtttctatgatgatgccatc
gtgtcgcagaagaaggcagatgaagtattggagattttgaagacggccagtgatgatcgg
gaatgtgaaaatcagctggttctgctgcttggtttcaacacctttgatttcattaaagtg
ttgcggcagcacaggatgatgattttatactgtaccttgctggccagtgcacaaagtgaa
gctgaaaaggaaaggattatgggaaagatggaagctgacccagagctatccaagttcctc
taccagcttcatgaaaccgagaaggaggatctgatccgagaggaaaggtcccggagagag
cgagtgcgtcagtctcgaatggacacagatctggaaaccatggatctcgaccagggtgga
gaggcactggctccacggcaggttctggacttggaggacctggtttttacccaagggagc
cactttatggccaataaacgctgtcagcttcctgatggatccttccgtcgccagcgtaag
ggctatgaagaggtgcatgtgcctgctctgaagcccaagccctttggctcagaagaacaa
ctgcttccagtggaaaagctgccaaagtatgcccaggctgggtttgagggcttcaaaaca
ctgaatcggatccagagtaagctctaccgtgctgcccttgagacggatgagaatctgctg
ctgtgtgctcctactggtgctgggaagaccaacgtggccctgatgtgcatgctccgagag
attgggaaacacataaacatggacggcaccatcaatgtggatgacttcaagattatctac
attgcccccatgcgctccttggtgcaggagatggtgggcagctttggaaagcgcctggcc
acttatggcatcactgttgctgaactgactggggaccaccagctgtgcaaagaagagatc
agtgccactcagatcatcgtctgcacccccgagaagtgggacatcatcacccgcaagggt
ggtgagcgcacctacacccagctggtgcggctcatcattctggatgagattcatcttctc
cacgatgacagaggtcctgtcttagaagctttagtggccagggccatccgaaacattgag
atgacccaagaggatgtccgactcattggtctcagtgccaccctacccaactatgaagat
gtagccacctttctacgtgttgaccctgccaagggtctcttttactttgacaacagcttc
cgtccagtgcctctggaacagacatatgtgggtatcacagagaaaaaagctatcaagcgt
ttccagatcatgaatgaaatcgtctatgaaaaaatcatggaacatgctggaaaaaatcag
gtgctggtgtttgtccactcccggaaggagactggaaagacagccagggccatccgggac
atgtgcctagaaaaggacactctgggtctgtttctgagggagggctcagcctccacagaa
gtcctgcgaacagaagctgagcagtgcaagaacctagagctgaaggatcttctgccttat
ggctttgctattcatcacgcaggcatgaccagggttgaccgaacactcgtggaggatctt
tttgctgataaacatattcaggttttagtttccacagcaactctagcttggggtgtgaat
ctccctgcacatacagtcatcatcaaaggcacccaggtgtacagtccagagaaggggcgt
tggacagaactgggagcactggacattctgcagatgctgggacgtgccggaagaccccag
tatgacaccaagggtgaaggcatactcatcacatctcatggggagctacagtactacctg
tccctcctcaatcaacaacttcctattgaaagccagatggtttcaaagcttcctgacatg
ctcaatgcagaaatcgtgctaggaaatgtccagaatgccaaggatgcggtgaactggctg
ggctatgcctacctctatatccgaatgctgcgatccccaaccctctatggcatctctcat
gatgacctcaagggagatcccctgctggaccagcgccgactagatctggttcatacagct
gccctgatgctggacaagaacaatctggtcaagtacgacaagaagacgggcaacttccag
gtgacagaactgggccgtatagccagccactactacatcaccaatgatacagtgcagact
tacaaccagctgctgaagcccaccctgagtgagattgagcttttcagggtcttctcattg
tcctctgagttcaagaacatcacagtgagagaggaggagaagctggagctgcagaagttg
ctggagagggtgcctatccctgtaaaggagagcattgaggaacccagtgctaagatcaac
gttcttctgcaagccttcatctcacagctgaaattggagggctttgcactgatggctgac
atggtgtatgtcacacagtcggctggccggttgatgcgagcgatatttgaaattgtcctg
aaccgaggttgggcacagcttacagacaagaccctgaacctctgcaagatgatcgacaaa
cgcatgtggcagtccatgtgtcctctgcgccagttccggaaactccctgaggaagtagtg
aagaagattgagaagaagaatttcccctttgagcgtctgtacgacctgaatcataatgag
attggggagcttatccgcatgccaaagatggggaagaccatccacaaatatgtccatctg
tttcccaagttggagttgtcagtgcacctgcagcctatcacacgctccaccctgaaggtg
gagctgaccatcacgccagacttccagtgggatgaaaaggtgcatggttcatccgaggct
ttttggattctggtggaggatgtggacagcgaggtgattctgcaccatgagtattttctc
ctcaaggccaagtacgcccaggacgagcacctcattacattcttcgtgcctgtctttgaa
ccgctgccccctcagtacttcatccgagtggtgtctgaccgctggctctcttgtgagacc
cagctgcctgtctccttccggcacctgatcttgccggagaagtacccccctccaaccgaa
cttttggacctgcagcccttgcccgtgtctgctctgagaaacagtgcctttgagagtctt
taccaagataaatttcctttcttcaatcccatccagacccaggtgtttaacactgtatac
aacagtgacgacaacgtgtttgtgggggcccccacgggcagcgggaagactatttgtgca
gagtttgccatcctgcgaatgctgctgcagagctcggaggggcgctgtgtgtacatcacc
cccatggaggccctggcagagcaggtatacatggactggtacgagaagttccaggacagg
ctcaacaagaaggtggtactcctgacaggcgagaccagcacagacctgaagctgctgggc
aaagggaacattatcatcagcacccctgagaagtgggacatactttcccggcgatggaag
cagcgcaagaacgtgcagaacatcaacctcttcgtggtggatgaggtccaccttatcggg
ggcgagaatgggcctgtcttagaagtgatctgctcccgaatgcgctacatctcctcccag
attgagcggcccattcgcattgtggcactcagctcttcgctctccaatgccaaggatgtg
gcccactggctgggctgcagtgccacctccaccttcaacttccatcccaatgtgcgtccc
gtccccttggagctgcacatccagggcttcaacatcagccatacacaaacccgcctgctc
tccatggccaagcctgtgtaccatgctatcaccaagcactcgcccaagaagcctgtcatt
gtctttgtgccgtctcgcaagcagacccgcctcactgccattgacatcctcaccacctgt
gcagcagacatccaacggcagaggttcttgcactgcaccgagaaggatctgattccgtac
ctggagaagctaagtgacagcacgctcaaggaaacgctgctaaatggggtgggctacctg
catgaggggctcagccccatggagcgacgcctggtggagcagctcttcagctcaggggct
atccaggtggtggtggcttctcggagtctctgctggggcatgaacgtggctgcccacctg
gtaatcatcatggatacccagtactacaatggcaagatccacgcctatgtggattacccc
atctatgacgtgcttcagatggtgggccacgccaaccgccctttgcaggacgatgagggg
cgctgtgtcatcatgtgtcagggctccaagaaggatttcttcaagaagttcttatatgag
ccattgccagtagaatctcacctggaccactgtatgcatgaccacttcaatgctgagatc
gtcaccaagaccattgagaacaagcaggatgctgtggactacctcacctggacctttctg
taccgccgcatgacacagaaccccaattactacaacctgcagggcatctcccatcgtcac
ttgtcggaccacttgtcagagctggtggagcagaccctgagtgacctggagcagtccaag
tgcatcagcatcgaggacgagatggacgtggcgcctctgaacctaggcatgatcgccgcc
tactattacatcaactacaccaccattgagctcttcagcatgtccctcaatgccaagacc
aaggtgcgagggcttatcgagatcatctccaatgcagcagagtatgagaacattcccatc
cggcaccatgaagacaatctcctgaggcagttggctcagaaggtcccccacaagctgaat
aaccctaagttcaatgatccgcacgtcaagaccaacctgctcctgcaggctcacttgtct
cgcatgcagctgagtgctgagttgcagtcagatacggaggaaatccttagtaaggcaatc
cggctcatccaggcctgcgtggatgtcctttccagcaatgggtggctcagccctgctctg
gcagctatggaactggcccagatggtcacccaagccatgtggtccaaggactcatacctg
aagcagctgccacacttcacctctgagcatatcaaacgttgcacagacaagggagtggag
agtgttttcgacatcatggagatggaggatgaagaacggaacgcgttgcttcagctgact
gacagccagattgcagatgtggctcgcttttgtaaccgctaccctaatatcgaactatct
tatgaggtggtagataaggacagcatccgcagtggcgggccagttgtggtgctggtgcag
ctggagcgagaggaggaagtcacaggccctgtcattgcgcctctcttcccgcagaaacgt
gaagagggctggtgggtggtgattggagatgccaagtccaatagcctcatctccatcaag
aggctgaccttgcagcagaaggccaaggtgaagttggactttgtggccccagccactggt
gcccacaactacactctgtacttcatgagtgacgcttacatgggatgtgaccaggagtac
aaattcagcgtggatgtgaaagaagctgagacagacagtgattcagattga |