KEGG   Homo sapiens (human): 353116
Entry
353116            CDS       T01001                                 
Symbol
RILPL1, GOSPEL, OPDM4, RLP1
Name
(RefSeq) Rab interacting lysosomal protein like 1
  KO
K20173  RILP-like protein 1
Organism
hsa  Homo sapiens (human)
Disease
H02513  Oculopharyngodistal myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    353116 (RILPL1)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    353116 (RILPL1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Rab GTPases and associated proteins
   Rab associated proteins
    353116 (RILPL1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   353116 (RILPL1)
SSDB
Motif
Pfam: RILP RH1 sCache_like TSC22 DUF6778
Other DBs
NCBI-GeneID: 353116
NCBI-ProteinID: NP_847884
OMIM: 614092
HGNC: 26814
Ensembl: ENSG00000188026
UniProt: Q5EBL4
LinkDB
Position
12:complement(123470054..123533719)
AA seq 403 aa
MEEERGSALAAESALEKNVAELTVMDVYDIASLVGHEFERVIDQHGCEAIARLMPKVVRV
LEILEVLVSRHHVAPELDELRLELDRLRLERMDRIEKERKHQKELELVEDVWRGEAQDLL
SQIAQLQEENKQLMTNLSHKDVNFSEEEFQKHEGMSERERQVMKKLKEVVDKQRDEIRAK
DRELGLKNEDVEALQQQQTRLMKINHDLRHRVTVVEAQGKALIEQKVELEADLQTKEQEM
GSLRAELGKLRERLQGEHSQNGEEEPETEPVGEESISDAEKVAMDLKDPNRPRFTLQELR
DVLHERNELKSKVFLLQEELAYYKSEEMEEENRIPQPPPIAHPRTSPQPESGIKRLFSFF
SRDKKRLANTQRNVHIQESFGQWANTHRDDGYTEQGQEALQHL
NT seq 1212 nt   +upstreamnt  +downstreamnt
atggaggaggagcgggggtcggcgctggcggccgagtcggcgctggagaagaacgtggcc
gagctgaccgtcatggacgtgtacgacatcgcgtcgcttgtgggccacgagttcgagcgg
gtcattgaccagcacggctgcgaggccatcgcgcgcctcatgcccaaggtcgtgcgcgtc
ctggagatcctggaggtgctggtcagccgccaccacgtcgcgcccgagctggacgagctg
cgcctggagctggaccgcctgcgcctggagaggatggaccgcatcgagaaggagcgcaag
caccagaaggagctggagctggtggaggatgtgtggcgaggggaggcgcaggacctcctc
tcccagatcgcccagctgcaggaggagaacaagcagctcatgaccaacctctcccacaag
gatgtcaatttctcagaggaggagttccagaagcatgaaggcatgtcagagcgggagcga
caggtgatgaagaagctgaaggaggtggtggacaaacaacgcgacgagatccgcgccaag
gacagggagctgggcctgaaaaatgaggacgttgaggctttacagcagcagcagacacgg
ctgatgaagatcaaccatgaccttcggcaccgggtcacggtggtggaggcccaggggaaa
gccctgatcgaacagaaggtggagctggaggcagacctgcagaccaaggagcaggagatg
ggcagcctgcgagcagagctggggaagttgcgagagaggctgcagggggagcacagccag
aatggggaggaggagcctgagacggagccggtgggagaggagagcatctccgacgcagag
aaggtggccatggatctcaaggaccccaaccgcccccggttcaccctgcaggagctgcgg
gacgtgctgcacgagaggaacgagctcaagtccaaggtgttcttgctgcaggaggagctg
gcttactataagagtgaagaaatggaagaggaaaaccgaataccccaacccccacccatc
gcccacccgaggacgtccccccagccggagtcgggcatcaagcgactgtttagcttcttc
tcccgagataagaagcgcctggccaacacacagagaaacgtgcacatccaggagtccttt
ggacagtgggcaaacacccaccgcgatgacggttacacagagcaaggacaggaagccctg
cagcatctgtga

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