KEGG   Homo sapiens (human): 55610
Entry
55610             CDS       T01001                                 
Symbol
VPS50, CCDC132, NEDMSC, VPS54L
Name
(RefSeq) VPS50 subunit of EARP/GARPII complex
  KO
K23288  syndetin
Organism
hsa  Homo sapiens (human)
Disease
H02461  Neurodevelopmental disorder with microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    55610 (VPS50)
Membrane trafficking [BR:hsa04131]
 Protein recycling
  Others
   EARP complex
    55610 (VPS50)
SSDB
Motif
Pfam: Vps54_N Syndetin_C
Other DBs
NCBI-GeneID: 55610
NCBI-ProteinID: NP_060137
OMIM: 616465
HGNC: 25956
Ensembl: ENSG00000004766
UniProt: Q96JG6
Position
7:93232366..93361123
AA seq 964 aa
MQKIKSLMTRQGLKSPQESLSDLGAIESLRVPGKEEFRELREQPSDPQAEQELINSIEQV
YFSVDSFDIVKYELEKLPPVLNLQELEAYRDKLKQQQAAVSKKVADLILEKQPAYVKELE
RVTSLQTGLQLAAVICTNGRRHLNIAKEGFTQASLGLLANQRKRQLLIGLLKSLRTIKTL
QRTDVRLSEMLEEEDYPGAIQLCLECQKAASTFKHYSCISELNSKLQDTLEQIEEQLDVA
LSKICKNFDINHYTKVQQAYRLLGKTQTAMDQLHMHFTQAIHNTVFQVVLGYVELCAGNT
DTKFQKLQYKDLCTHVTPDSYIPCLADLCKALWEVMLSYYRTMEWHEKHDNEDTASASEG
SNMIGTEETNFDRGYIKKKLEHGLTRIWQDVQLKVKTYLLGTDLSIFKYDDFIFVLDIIS
RLMQVGEEFCGSKSEVLQESIRKQSVNYFKNYHRTRLDELRMFLENETWELCPVKSNFSI
LQLHEFKFMEQSRSPSVSPSKQPVSTSSKTVTLFEQYCSGGNPFEIQANHKDEETEDVLA
SNGYESDEQEKSAYQEYDSDSDVPEELKRDYVDEQTGDGPVKSVSRETLKSRKKSDYSLN
KVNAPILTNTTLNVIRLVGKYMQMMNILKPIAFDVIHFMSQLFDYYLYAIYTFFGRNDSL
ESTGLGLSSSRLRTTLNRIQESLIDLEVSADPTATLTAAEERKEKVPSPHLSHLVVLTSG
DTLYGLAERVVATESLVFLAEQFEFLQPHLDAVMPAVKKPFLQQFYSQTVSTASELRKPI
YWIVAGKALDYEQMLLLMANVKWDVKEIMSQHNIYVDALLKEFEQFNRRLNEVSKRVRIP
LPVSNILWEHCIRLANRTIVEGYANVKKCSNEGRALMQLDFQQFLMKLEKLTDIRPIPDK
EFVETYIKAYYLTENDMERWIKEHREYSTKQLTNLVNVCLGSHINKKARQKLLAAIDDID
RPKR
NT seq 2895 nt   +upstreamnt  +downstreamnt
atgcaaaaaatcaaatctctcatgacccgacagggtctgaaaagccctcaagaaagcctc
agtgatcttggtgccatagagagtctccgggtccctggaaaggaagaattcagggaactt
cgagaacagccaagtgaccctcaagctgaacaagagcttattaatagtattgaacaagta
tatttttctgtggattcatttgatattgttaaatatgagctggagaagcttccacctgtt
ctcaatttgcaagaattagaggcgtatagagacaaattgaaacaacagcaagctgcagta
tctaaaaaagtggcagatttaatccttgaaaaacagcctgcttatgtaaaggaacttgaa
agagttacctcattgcagacaggtcttcaattagctgctgttatctgtacaaatgggaga
agacacttgaatattgcaaaggaaggttttactcaagctagtttaggccttcttgcaaat
caaaggaaacgtcagttgctgattggacttctgaaatctctgagaactataaaaacattg
caaagaacagatgtacggttaagtgaaatgctggaggaggaagattatccaggagctatt
cagttgtgccttgaatgtcaaaaagctgccagcacttttaaacattacagttgtataagt
gaactgaattcaaagctgcaagatactttggaacagattgaggaacagctggacgtagct
ctttccaaaatctgcaagaattttgacattaaccattataccaaggttcaacaagcttat
cgacttcttggaaaaacacagacagcaatggatcaacttcatatgcacttcacccaagcc
attcacaacaccgtgtttcaagttgttcttggttatgtggaactatgtgcaggaaacaca
gacacaaaattccaaaagctgcaatataaggatctctgtacacatgttacaccagacagc
tatattccatgccttgcagacctgtgcaaagcactatgggaagttatgctcagctattat
aggactatggaatggcatgaaaagcatgacaatgaggatactgcttcagcttctgaaggg
agtaatatgataggtactgaagaaactaattttgatcgtggctacataaaaaagaaatta
gaacatggacttacacgaatatggcaggatgttcagctaaaagtaaaaacctacttgctt
ggaactgatttgtctatattcaaatatgatgatttcatctttgttttggatataatcagc
aggttgatgcaagttggagaagaattttgtggtagcaagtctgaagttttacaggaatct
attagaaaacaaagtgtcaattatttcaagaattaccatagaacacggctcgatgaactg
agaatgttcttagagaatgagacttgggaactttgtcctgttaagtcaaatttcagcatc
ttgcaacttcatgaatttaaattcatggaacagtctcgctccccatcagtttcacctagt
aaacagccagtctcaacttcttcaaaaacagtgaccttgtttgagcagtactgtagtggt
gggaatccatttgaaattcaggccaaccacaaagatgaagaaacagaagatgtcttagct
tctaatgggtatgaatctgatgaacaagaaaagagtgcctatcaagagtatgacagtgac
agtgatgttcctgaggaactcaaacgagactatgtggatgagcagacaggagatggtcct
gtgaaaagtgtttctcgggaaactctaaaaagcaggaagaaatcagattacagtctaaat
aaagtgaatgcacctatcttaacaaatacaacattgaacgtcataagacttgttggaaaa
tatatgcagatgatgaacattcttaagccaattgcctttgatgttattcatttcatgtct
caactatttgattattacttgtatgcaatatataccttttttggtcggaatgattcattg
gaatcaactggactcggccttagtagtagtagactaagaacaactctaaacagaatacaa
gaaagccttattgatctagaagtttcagctgatcctactgccacactcacagcagcagaa
gaaagaaaggagaaggtgccaagtccacacctcagtcacctagtggttttgacatctggg
gatacgctgtatgggttggcagaaagagtggtagccacggaatccttggtattcttggct
gaacagtttgagttccttcagccacatctggatgctgtgatgcctgcagtcaaaaagccc
tttcttcagcagttctattctcagacagtctcaaccgccagtgaactacggaaaccaatt
tactggattgtagctggtaaagcccttgattatgaacagatgctgcttctcatggctaat
gtgaaatgggatgtaaaagaaattatgtcacagcacaacatatatgtagatgcactatta
aaggaatttgagcagtttaacaggaggctaaatgaagtttctaagagagttcgcataccc
ttgcctgtgtctaatatactttgggaacattgtatacgattggctaatcgaactattgta
gaaggatatgccaatgtcaagaaatgcagtaatgagggtcgtgccctgatgcaattggat
tttcaacagtttttaatgaaacttgaaaaactaacagatattagacccattcctgataaa
gaatttgtagaaacttatattaaagcttattacctaactgagaatgacatggaacggtgg
atcaaagagcacagggaatattcaacgaagcagctgaccaatctggtgaatgtttgcctg
ggatcccatatcaataagaaagcaagacaaaaacttctagcagctatagatgatatagac
agacctaaaagataa

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