KEGG   Homo sapiens (human): 55275
Entry
55275             CDS       T01001                                 
Symbol
VPS53, HCCS1, PCH2E, hVps53L, pp13624
Name
(RefSeq) VPS53 subunit of GARP complex
  KO
K20299  vacuolar protein sorting-associated protein 53
Organism
hsa  Homo sapiens (human)
Disease
H00897  Pontocerebellar hypoplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    55275 (VPS53)
Membrane trafficking [BR:hsa04131]
 Protein recycling
  Others
   EARP complex
    55275 (VPS53)
 Endosome - Golgi transport
  Tethering complex
   GARP complex
    55275 (VPS53)
SSDB
Motif
Pfam: Vps53_N VPS53_C Vps54_N COG4_N FBF1 GrpE Sec8_N Laminin_II Syndetin_C NBD94 hAT-like_RNase-H COG3_N COG5_N MCPsignal NFRKB_winged XhlA VPS51_Exo84_N
Other DBs
NCBI-GeneID: 55275
NCBI-ProteinID: NP_001121631
OMIM: 615850
HGNC: 25608
Ensembl: ENSG00000141252
UniProt: Q5VIR6 B3KS06
Position
17:complement(508668..714839)
AA seq 832 aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLAN
IDEVVNKIRLKIRRLDDNIRTVVRGQTNVGQDGRQALEEAQKAIQQLFGKIKDIKDKAEK
SEQMVKEITRDIKQLDHAKRHLTTSITTLNHLHMLAGGVDSLEAMTRRRQYGEVANLLQG
VMNVLEHFHKYMGIPQIRQLSERVKAAQTELGQQILADFEEAFPSQGTKRPGGPSNVLRD
ACLVANILDPRIKQEIIKKFIKQHLSEYLVLFQENQDVAWLDKIDRRYAWIKRQLVDYEE
KYGRMFPREWCMAERIAVEFCHVTRAELAKIMRTRAKEIEVKLLLFAIQRTTNFEGFLAK
RFSGCTLTDGTLKKLESPPPSTNPFLEDEPTPEMEELATEKGDLDQPKKPKAPDNPFHGI
VSKCFEPHLYVYIESQDKNLGELIDRFVADFKAQGPPKPNTDEGGAVLPSCADLFVYYKK
CMVQCSQLSTGEPMIALTTIFQKYLREYAWKILSGNLPKTTTSSGGLTISSLLKEKEGSE
VAKFTLEELCLICNILSTAEYCLATTQQLEEKLKEKVDVSLIERINLTGEMDTFSTVISS
SIQLLVQDLDAACDPALTAMSKMQWQNVEHVGDQSPYVTSVILHIKQNVPIIRDNLASTR
KYFTQFCVKFANSFIPKFITHLFKCKPISMVGAEQLLLDTHSLKMVLLDLPSISSQVVRK
APASYTKIVVKGMTRAEMILKVVMAPHEPLVVFVDNYIKLLTDCNTETFQKILDMKGLKR
SEQSSMLELLRQRLPAPPSGAESSGSLSLTAPTPEQESSRIRKLEKLIKKRL
NT seq 2499 nt   +upstreamnt  +downstreamnt
atgatggaggaggaggaactggagttcgtggaggagctggaagccgtgctgcagctcacg
cccgaggtgcagctggccatcgagcaggtgtttccaagccaggaccctctagatcgagca
gatttcaatgctgttgagtatatcaataccctgttcccaaccgagcaatctctggcgaac
atagacgaagtcgtgaacaaaattaggctgaaaataaggagactggatgacaatattcga
actgttgtaagaggtcagacgaacgtggggcaggatggacggcaagcgcttgaagaggct
cagaaagctatccaacaactctttggcaaaatcaaagatatcaaagacaaagctgaaaaa
tcagagcaaatggtgaaagaaatcacccgtgatattaagcaattagatcacgccaaacgc
cacctgaccacctcaatcaccacactgaaccacctgcacatgctggcaggaggtgtcgac
tccctcgaagccatgaccaggcgaagacaatacggagaagttgctaatctccttcagggt
gtgatgaatgtcctggagcacttccacaagtatatggggattccgcagatccggcagctt
tccgaaagagtgaaggctgcacagactgagttaggacagcaaatcctggcagattttgaa
gaagcgtttccttcccagggcaccaagagaccaggaggacccagcaatgttctacgagat
gcatgtctggttgctaatattctagatcccaggatcaaacaggaaatcatcaaaaagttt
attaaacagcatctgtcagagtatctggtactttttcaagaaaaccaagatgttgcctgg
ctggacaaaatcgacagacgctatgcctggataaaacgccagcttgtggactatgaggag
aaatacggccgcatgtttccacgtgagtggtgcatggctgagaggattgcggtggaattt
tgccatgtgacaagggcagaacttgccaagattatgcgtaccagagcgaaggaaattgaa
gtgaaattgcttctttttgctattcaaagaacaactaactttgaggggtttcttgcaaaa
cgcttctccggctgcaccctgaccgatgggaccctgaaaaagcttgagtctccaccccca
tctaccaatcccttcctggaagatgagccaacaccagagatggaggaactggcaacggag
aaaggagatttagatcaaccaaagaagcctaaagccccagacaatccatttcatggcatt
gtttccaagtgttttgagcctcatctctacgtgtatatcgaatcccaagacaagaacctc
ggagagctgatagatcggtttgtggctgatttcaaagcccaggggccacctaagcccaac
actgatgaagggggtgccgtgctccccagctgcgccgacctctttgtctactacaagaag
tgcatggtgcaatgctctcagctcagtactggggagcccatgatcgccctgaccaccatt
ttccagaagtacctccgagaatacgcctggaaaatcctctctggcaacctgcccaaaacc
acaaccagcagtggaggactgactatcagcagcctcctcaaggaaaaggagggctcagaa
gtagccaagttcactctggaggagctctgcctcatctgtaacatcctgagcacggcagag
tactgtctggccaccacccagcagctagaagaaaaactcaaagaaaaagtggatgtaagt
ctgattgaacgaatcaatctgactggagagatggacacgttcagcaccgtcatctccagc
agtattcagctgctggttcaggatctggatgctgcctgtgatcctgccctgactgccatg
agcaagatgcagtggcagaacgtggagcacgttggtgaccagagcccctacgtcacctct
gtcattctgcacatcaagcagaacgtccccatcatccgtgacaacctggcttccacacgc
aagtacttcactcagttctgcgttaaatttgcaaactccttcattcccaaattcatcacc
cacctcttcaagtgcaagccaattagcatggtgggagcagaacagctgctgctggacacc
cactcgctgaagatggtcctgctcgatctcccctccatcagctcgcaggtggtgaggaag
gcacccgccagctacaccaagatcgttgtcaaaggcatgacccgggctgagatgatcctc
aaggtagtgatggcccctcatgaaccgttggtggtgtttgttgacaactacatcaaactt
ctcacagactgcaacacagaaacctttcagaagatactggacatgaaggggctgaagagg
agtgagcagagcagcatgctggaactcctgcgccagcggctccccgcaccgccctcgggg
gcagaaagctccggctcactgtccctgacggcgccaacaccagagcaagagtcgtcacgc
atccgcaagctcgagaaactcattaaaaagagactgtag

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (28)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (18)   
   OC (1)   
Protein sequence (31)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (28)   
DNA sequence (72)   
   RefSeq(nuc) (28)   
   GenBank (22)   
   EMBL (22)   
Protein domain (17)   
   Pfam (17)   
All databases (154)   

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