KEGG   Homo sapiens (human): 57096
Entry
57096             CDS       T01001                                 
Symbol
RPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
Name
(RefSeq) RPGR interacting protein 1
  KO
K16512  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00481  Cone-rod dystrophy and cone dystrophy
H00837  Leber congenital amaurosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    57096 (RPGRIP1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   57096 (RPGRIP1)
SSDB
Motif
Pfam: RPGR1_C C2-C2_1 C2 MMR_HSR1_Xtn
Other DBs
NCBI-GeneID: 57096
NCBI-ProteinID: NP_065099
OMIM: 605446
HGNC: 13436
Ensembl: ENSG00000092200
Vega: OTTHUMG00000170758
Pharos: Q96KN7(Tbio)
UniProt: Q96KN7
Structure
LinkDB
Position
14:21280083..21351301
AA seq 1286 aa
MSHLVDPTSGDLPVRDIDAIPLVLPASKGKNMKTQPPLSRMNREELEDSFFRLREDHMLV
KELSWKQQDEIKRLRTTLLRLTAAGRDLRVAEEAAPLSETARRGQKAGWRQRLSMHQRPQ
MHRLQGHFHCVGPASPRRAQPRVQVGHRQLHTAGAPVPEKPKRGPRDRLSYTAPPSFKEH
ATNENRGEVASKPSELVSGSNSIISFSSVISMAKPIGLCMPNSAHIMASNTMQVEEPPKS
PEKMWPKDENFEQRSSLECAQKAAELRASIKEKVELIRLKKLLHERNASLVMTKAQLTEV
QEAYETLLQKNQGILSAAHEALLKQVNELRAELKEESKKAVSLKSQLEDVSILQMTLKEF
QERVEDLEKERKLLNDNYDKLLESMLDSSDSSSQPHWSNELIAEQLQQQVSQLQDQLDAE
LEDKRKVLLELSREKAQNEDLKLEVTNILQKHKQEVELLQNAATISQPPDRQSEPATHPA
VLQENTQIEPSEPKNQEEKKLSQVLNELQVSHAETTLELEKTRDMLILQRKINVCYQEEL
EAMMTKADNDNRDHKEKLERLTRLLDLKNNRIKQLEGILRSHDLPTSEQLKDVAYGTRPL
SLCLETLPAHGDEDKVDISLLHQGENLFELHIHQAFLTSAALAQAGDTQPTTFCTYSFYD
FETHCTPLSVGPQPLYDFTSQYVMETDSLFLHYLQEASARLDIHQAMASEHSTLAAGWIC
FDRVLETVEKVHGLATLIGAGGEEFGVLEYWMRLRFPIKPSLQACNKRKKAQVYLSTDVL
GGRKAQEEEFRSESWEPQNELWIEITKCCGLRSRWLGTQPSPYAVYRFFTFSDHDTAIIP
ASNNPYFRDQARFPVLVTSDLDHYLRREALSIHVFDDEDLEPGSYLGRARVPLLPLAKNE
SIKGDFNLTDPAEKPNGSIQVQLDWKFPYIPPESFLKPEAQTKGKDTKDSSKISSEEEKA
SFPSQDQMASPEVPIEAGQYRSKRKPPHGGERKEKEHQVVSYSRRKHGKRIGVQGKNRME
YLSLNILNGNTPEQVNYTEWKFSETNSFIGDGFKNQHEEEEMTLSHSALKQKEPLHPVND
KESSEQGSEVSEAQTTDSDDVIVPPMSQKYPKADSEKMCIEIVSLAFYPEAEVMSDENIK
QVYVEYKFYDLPLSETETPVSLRKPRAGEEIHFHFSKVIDLDPQEQQGRRRFLFDMLNGQ
DPDQGHLKFTVVSDPLDEEKKECEEVGYAYLQLWQILESGRDILEQELDIVSPEDLATPI
GRLKVSLQAAAVLHAIYKEMTEDLFS
NT seq 3861 nt   +upstreamnt  +downstreamnt
atgtcacatctggtggaccctacatcaggagacttgccagttagagacatagatgctata
cctctggtgctaccagcctcaaaaggtaagaatatgaaaactcaaccacccttgagcagg
atgaaccgggaggaattggaggacagtttctttcgacttcgcgaagatcacatgttggtg
aaggagctttcttggaagcaacaggatgagatcaaaaggctgaggaccaccttgctgcgg
ttgaccgctgctggccgggacctgcgggtcgcggaggaggcggcgccgctctcggagacc
gcaaggcgcgggcagaaggcgggatggcggcagcgcctctccatgcaccagcgcccccag
atgcaccgactgcaagggcatttccactgcgtcggccctgccagcccccgccgcgcccag
cctcgcgtccaagtgggacacagacagctccacacagccggtgcaccggtgccggagaaa
cccaagagggggccaagggacaggctgagctacacagcccctccatcgtttaaggagcat
gcgacaaatgaaaacagaggtgaagtagccagtaaacccagtgaacttgtttctggttct
aacagcataatttctttcagcagtgtcataagtatggctaaacccattggtctatgcatg
cctaacagtgcccacatcatggccagcaataccatgcaagtggaagagccacccaagtct
cctgagaaaatgtggcctaaagatgaaaattttgaacagagaagctcattggagtgtgct
cagaaggctgcagagcttcgagcttccattaaagagaaggtagagctgattcgacttaag
aagctcttacatgaaagaaatgcttcattggttatgacaaaagcacaattaacagaagtt
caagaggcatacgaaaccttgctccagaagaatcagggaatcctgagtgcagcccatgag
gccctcctcaagcaagtgaatgagctcagggcagagctgaaggaagaaagcaagaaggct
gtgagcttgaagagccaactggaagatgtgtctatcttgcagatgactctgaaggagttt
caggagagagttgaagatttggaaaaagaacgaaaattgctgaatgacaattatgacaaa
ctcttagaaagcatgctggacagcagtgacagctccagtcagccccactggagcaacgag
ctcatagcggaacagctacagcagcaagtctctcagctgcaggatcagctggatgctgag
ctggaggacaagagaaaagttttacttgagctgtccagggagaaagcccaaaatgaggat
ctgaagcttgaagtcaccaacatacttcagaagcataaacaggaagtagagctcctccaa
aatgcagccacaatttcccaacctcctgacaggcaatctgaaccagccactcacccagct
gtattgcaagagaacactcagatcgagccaagtgaacccaaaaaccaagaagaaaagaaa
ctgtcccaggtgctaaatgagttgcaagtatcacacgcagagaccacattggaactagaa
aagaccagggacatgcttattctgcagcgcaaaatcaacgtgtgttatcaggaggaactg
gaggcaatgatgacaaaagctgacaatgataatagagatcacaaagaaaagctggagagg
ttgactcgactactagacctcaagaataaccgtatcaagcagctggaaggtattttaaga
agccatgaccttccaacatctgaacagctcaaagatgttgcttatggcacccgaccgttg
tcgttatgtttggaaacactgccagcccatggagatgaggataaagtggatatttctctg
ctgcatcagggtgagaatctttttgaactgcacatccaccaggccttcctgacatctgcc
gccctagctcaggctggagatacccaacctaccactttctgcacctattccttctatgac
tttgaaacccactgtaccccattatctgtggggccacagcccctctatgacttcacctcc
cagtatgtgatggagacagattcgcttttcttacactaccttcaagaggcttcagcccgg
cttgacatacaccaggccatggccagtgaacacagcactcttgctgcaggatggatttgc
tttgacagggtgctagagactgtggagaaagtccatggcttggccacactgattggagct
ggtggagaagagttcggggttctagagtactggatgaggctgcgtttccccataaaaccc
agcctacaggcgtgcaataaacgaaagaaagcccaggtctacctgtcaaccgatgtgctt
ggaggccggaaggcccaggaagaggagttcagatcggagtcttgggaacctcagaacgag
ctgtggattgaaatcaccaagtgctgtggcctccggagtcgatggctgggaactcaaccc
agtccatatgctgtgtaccgcttcttcaccttttctgaccatgacactgccatcattcca
gccagtaacaacccctactttagagaccaggctcgattcccagtgcttgtgacctctgac
ctggaccattatctgagacgggaggccttgtctatacatgtttttgatgatgaagactta
gagcctggctcgtatcttggccgagcccgagtgcctttactgcctcttgcaaaaaatgaa
tctatcaaaggtgattttaacctcactgaccctgcagagaaacccaacggatctattcaa
gtgcaactggattggaagtttccctacataccccctgagagcttcctgaaaccagaagct
cagactaaggggaaggataccaaggacagttcaaagatctcatctgaagaggaaaaggct
tcatttccttcccaggatcagatggcatctcctgaggttcccattgaagctggccagtat
cgatctaagagaaaacctcctcatgggggagaaagaaaggagaaggagcaccaggttgtg
agctactcaagaagaaaacatggcaaaagaataggtgttcaaggaaagaatagaatggag
tatcttagccttaacatcttaaatggaaatacaccagagcaggtgaattacactgagtgg
aagttctcagagactaacagcttcataggtgatggctttaaaaatcagcacgaggaagag
gaaatgacattatcccattcagcactgaaacagaaggaacctctacatcctgtaaatgac
aaagaatcctctgaacaaggttctgaagtcagtgaagcacaaactaccgacagtgatgat
gtcatagtgccacccatgtctcagaaatatcctaaggcagattcagagaagatgtgcatt
gaaattgtctccctggccttctacccagaggcagaagtgatgtctgatgagaacataaaa
caggtgtatgtggagtacaaattctacgacctacccttgtcggagacagagactccagtg
tccctaaggaagcctagggcaggagaagaaatccactttcactttagcaaggtaatagac
ctggacccacaggagcagcaaggccgaaggcggtttctgttcgacatgctgaatggacaa
gatcctgatcaaggacatttaaagtttacagtggtaagtgatcctctggatgaagaaaag
aaagaatgtgaagaagtgggatatgcatatcttcaactgtggcagatcctggagtcagga
agagatattctagagcaagagctagacattgttagccctgaagatctggctaccccaata
ggaaggctgaaggtttcccttcaagcagctgctgtcctccatgctatttacaaggagatg
actgaagatttgttttcatga

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