KEGG   Homo sapiens (human): 79641
Entry
79641             CDS       T01001                                 
Symbol
ROGDI, KTZS, RAV2, ROGD1
Name
(RefSeq) protein rogdi homolog
  KO
K24628  protein rogdi
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06551  Lysosome
  Element
N02024  Recruitment of V-ATPase to lysosome
Disease
H02058  Kohlschutter-Tonz syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    79641 (ROGDI)
SSDB
Motif
Pfam: Rogdi_lz
Other DBs
NCBI-GeneID: 79641
NCBI-ProteinID: NP_078865
OMIM: 614574
HGNC: 29478
Ensembl: ENSP00000322832.6
UniProt: Q9GZN7
Structure
LinkDB
Position
16:complement(4796968..4802633)
AA seq 287 aa
MATVMAATAAERAVLEEEFRWLLHDEVHAVLKQLQDILKEASLRFTLPGSGTEGPAKQEN
FILGSCGTDQVKGVLTLQGDALSQADVNLKMPRNNQLLHFAFREDKQWKLQQIQDARNHV
SQAIYLLTSRDQSYQFKTGAEVLKLMDAVMLQLTRARNRLTTPATLTLPEIAASGLTRMF
APALPSDLLVNVYINLNKLCLTVYQLHALQPNSTKNFRPAGGAVLHSPGAMFEWGSQRLE
VSHVHKVECVIPWLNDALVYFTVSLQLCQQLKDKISVFSSYWSYRPF
NT seq 864 nt   +upstreamnt  +downstreamnt
atggccaccgtgatggcagcgacggcggcggagcgggcggtgctggaggaggagttccgc
tggctgctgcacgacgaggtgcacgctgtgttgaagcagctgcaggacatcctcaaggag
gcctctctgcgcttcactctgccgggctccggcactgaggggcccgccaagcaagagaac
ttcatcctaggcagctgtggcacagaccaggtgaagggtgtgctgactctgcagggggat
gccctcagccaggcggatgtgaacctgaagatgccccggaacaaccagctgctgcacttc
gccttccgggaggacaagcagtggaagctgcagcagatccaggatgccagaaaccatgtg
agccaagccatttacctgcttaccagccgggaccagagctaccagttcaagacgggcgct
gaggtcctcaagctgatggacgcagtgatgctgcagctgaccagagcccgaaaccggctc
accacccccgccaccctcaccctccccgagatcgccgccagcggcctcacgcggatgttc
gcccctgccctgccgtccgacctgctggtcaacgtctacatcaacctcaacaagctctgc
ctcacggtgtaccagctgcatgccctgcagcccaactccaccaagaacttccgcccagct
gggggcgcggtgctgcatagccctggggccatgttcgagtggggctctcagcgcctggag
gtgagccacgtgcacaaagtggagtgcgtgatcccctggctcaacgacgccctggtctac
ttcaccgtctccctgcagctctgccagcagctcaaggacaagatctccgtgttctccagc
tactggagctacagacccttctga

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