KEGG   Homo sapiens (human): 23322
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)
SSDB
Motif
Pfam: RPGR1_C C2-C2_1 C2
Other DBs
NCBI-GeneID: 23322
NCBI-ProteinID: NP_056087
OMIM: 610937
HGNC: 29168
Ensembl: ENSG00000103494
UniProt: Q68CZ1
Structure
Position
16:complement(53598153..53703859)
AA seq 1315 aa
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   +upstreamnt  +downstreamnt
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (26)   
   KEGG ORTHOLOGY (1)   
   RefGene (19)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (52)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (50)   
DNA sequence (96)   
   RefSeq(nuc) (58)   
   GenBank (19)   
   EMBL (19)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (189)   

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