Homo sapiens (human): 57096
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
RPGR1_C
C2-C2_1
C2
DUF6985
Motif
Other DBs
NCBI-GeneID:
57096
NCBI-ProteinID:
NP_065099
OMIM:
605446
HGNC:
13436
Ensembl:
ENSG00000092200
UniProt:
Q96KN7
Structure
PDB
PDBj
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All DBs
Position
14:21280083..21351301
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AA seq
1286 aa
AA seq
DB 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
+upstream
nt +downstream
nt
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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integrated database retrieval system
