Homo sapiens (human): 23322
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Entry
23322 CDS
T01001
Symbol
RPGRIP1L, COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
Name
(RefSeq) RPGRIP1 like
KO
K16550
protein fantom
Organism
hsa
Homo sapiens (human)
Disease
H00261
Meckel syndrome
H00530
Joubert syndrome and related disorders
H01001
COACH syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09181 Protein families: metabolism
01009 Protein phosphatases and associated proteins [BR:
hsa01009
]
23322 (RPGRIP1L)
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
23322 (RPGRIP1L)
Protein phosphatases and associated proteins [BR:
hsa01009
]
Protein serine/threonine phosphatases
Phosphoprotein phosphatases (PPPs)
Protein phosphatase-1
PP1-interacting proteins (PIPs)
23322 (RPGRIP1L)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
MKS complex
23322 (RPGRIP1L)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
RPGR1_C
C2-C2_1
C2
Motif
Other DBs
NCBI-GeneID:
23322
NCBI-ProteinID:
NP_056087
OMIM:
610937
HGNC:
29168
Ensembl:
ENSG00000103494
UniProt:
Q68CZ1
Structure
PDB
PDBj
LinkDB
All DBs
Position
16:complement(53598153..53703859)
Genome browser
AA seq
1315 aa
AA seq
DB search
MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDE
NILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVH
ELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKF
QDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKE
NEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLR
ISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKE
NYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKL
VQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFL
VKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENL
QQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHL
ERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQ
YLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTK
GDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLS
STDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDD
HMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELT
DHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAP
RPKPRQRLTPVDKKVSFVDIMPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPK
VSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSA
SDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRLPGSSDFPASASQVDGITGAC
HHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVY
YNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHV
DLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA
NT seq
3948 nt
NT seq
+upstream
nt +downstream
nt
atgtctggtccaactgatgagactgcaggagacttgcctgtgaaagatacaggtctaaac
ctctttggaatgggagggttacaagaaacttcaacaacacggacaatgaagtctcgccag
gcagtgtcacgtgtcagtcgtgaggaactggaagacagatttttgcgtttgcatgatgag
aacattttacttaaacagcatgcccgcaagcaggaggataaaattaaaagaatggccacc
aagttaatacggctagttaatgacaagaaaagatatgagcgggttggtggcggccccaag
cggctgggacgagatgtggaaatggaagaaatgattgagcagctgcaagagaaagttcat
gagcttgaaaaacaaaatgaaaccctcaaaaacagactgatttcagccaaacagcaactt
caaacccagggttacaggcaaactccatacaataatgtacaatctcgtattaacactggg
cgtagaaaagcaaatgaaaatgctggtttacaggaatgccccaggaaaggtataaaattc
caagatgcagatgtagcagaaactccacatcccatgtttacaaaatatggcaacagttta
cttgaagaagccagaggagaaataagaaatttagaaaacgttattcagtcacaaagaggc
cagatagaggagttagagcacttggctgagatcctgaaaactcagttgaggagaaaagaa
aatgaaattgagttatctcttcttcagcttcgagaacagcaagctacagatcaaaggtca
aatattcgggacaatgtagaaatgattaagcttcataaacagctagtagagaaaagcaat
gctctttcagcaatggaaggaaaatttattcagcttcaagagaagcaaagaactctcaga
atcagccacgatgctttgatggcaaatggggatgaattaaacatgcaacttaaagagcag
cgtttaaaatgctgcagtcttgagaaacaattacattctatgaagttttctgaaagaaga
atagaagagctgcaggatagaattaatgatttagaaaaggaacgggaacttttaaaggaa
aactatgataaactttatgacagtgccttcagtgctgcccatgaagagcaatggaagtta
aaggagcaacagctgaaagtgcagattgctcagctcgagactgccttgaagtctgactta
acagacaaaactgaaatccttgacagattaaaaactgaaagagatcaaaatgaaaaactc
gttcaagagaatagagaactacagttacagtatctggaacaaaagcaacaacttgatgaa
cttaaaaaacgcataaaattgtacaaccaggagaatgatattaatgctgatgaattgagt
gaagctctcctacttataaaggctcaaaaagaacaaaaaaatggagacctttccttttta
gtgaaagtagatagtgaaattaataaagatctagaacgctctatgagagagctgcaagca
actcatgcagaaacggtgcaagagctggaaaagacaagaaacatgctaattatgcaacac
aaaattaataaagattatcagatggaggttgaggcagtgacccgtaagatggaaaatttg
cagcaagattatgaactcaaagtggaacagtatgttcatcttcttgatatcagggctgca
cgtatccataaactagaagcccaattaaaggatattgcctatggcaccaagcagtacaaa
tttaaaccagaaatcatgccagatgactctgttgatgaatttgatgaaaccatccactta
gaacgaggcgaaaatctatttgaaatccatatcaacaaagtaaccttttcttctgaagtt
ttacaggcatctggagataaagagcctgtcactttctgtacctatgctttctatgatttt
gaactacagacaactcccgtagtgcgaggccttcatcccgaatataacttcacttctcaa
tatcttgttcatgttaatgacttatttttgcaatatattcagaagaatactatcaccctt
gaggtccaccaggcttatagcacagaatatgaaacaattgcagcatgtcaattaaaattt
cacgaaattcttgaaaaaagcggccgaatattttgtacagcaagtttgattggaacaaaa
ggagacatcccaaattttggcacagtggaatactggttccgattaagagttcccatggat
caagcaattcgactttatcgagaaagggcaaaggctttggggtatataacatcaaatttt
aaggggccagagcatatgcagtcgttaagtcagcaagcacccaaaactgctcaactcagt
tctacagattccacagatggcaacttaaatgaacttcacattacaataagatgttgcaac
cacctgcagtcccgagcaagccacctgcagccacacccatatgttgtgtacaagtttttt
gattttgcagaccatgatacagctatcattcccagtagcaatgatccacagtttgatgat
catatgtatttcccagtgccaatgaatatggacttggatcgataccttaagtcagagtct
ctgagtttttatgtttttgatgatagtgatacccaggagaatatttacataggaaaagtc
aatgtgcctctgatttcgttggcacatgacaggtgtatctcaggaatatttgagttaaca
gaccatcaaaagcatcctgctggcaccatccatgttatattgaaatggaaatttgcttac
cttccaccaagtggatcaataacaactgaagacttaggaaatttcattcgcagcgaagag
ccagaagttgttcaaagacttcctccagcatcctctgttagcacactagttttagcacca
agacctaaaccaagacaacgtttaacacctgtagataagaaggtatctttcgtggatatc
atgccacatcagagtgatgagacttctcctcctcctgaagataggaaggaaatttcacca
gaggtagagcatataccagaaatagaaattaatatgctgactgttccacatgttcccaag
gtttcacaagaaggcagtgtagatgaggtaaaagagaatactgagaaaatgcagcaagga
aaagatgatgtgtctttactatctgaaggtcagcttgcagaacaaagcttggcatcttct
gaagatgaaacagaaataacagaggacttggaaccagaagttgaagaggacatgtcagct
tctgacagtgatgactgtattattccaggtcctatctccaagaatatcaaacagagtctc
gcattgtctcccgggctggggtgcagtagcgcgatctcagctcactgcaacttccgcctc
ccgggttccagcgattttcctgcctcagcctcccaagtagatgggattacaggtgcctgc
caccacacccagccatcagaaaaaattcggattgagatcatagctctaagccttaatgat
tctcaagtaaccatggatgacactatccaacggctgtttgttgagtgtcgattctacagt
cttcctgctgaagagacacccgtgtcacttccaaaacccaagagtgggcagtgggtctac
tataactatagcaatgtgatctacgtggataaagaaaacaacaaagcaaagagagacatc
ttaaaagctatactacaaaaacaagagatgcctaatagaagccttcgcttcaccgtggtc
agtgaccctccagaggacgagcaggacctggagtgtgaggacattggcgtggctcacgtc
gaccttgccgacatgtttcaggaagggagggacctcattgagcaaaatatcgatgttttt
gatgcacgagcagatggtgaaggtattggcaagctcagggtaacagtcgaagctctccat
gccctccagtctgtctacaagcaatacagagatgacttggaggcttga
DBGET
integrated database retrieval system
