KEGG   Homo sapiens (human): 57096Help
Entry
57096             CDS       T01001                                 

Gene name
RPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
Definition
retinitis pigmentosa GTPase regulator interacting protein 1
Orthology
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 (LCR)
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
14q11
AA seq 1286 aa AA seqDB search
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 NT seq  +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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