KEGG   Homo sapiens (human): 26276
Entry
26276             CDS       T01001                                 
Symbol
VPS33B, KDIDAR, PFIC12
Name
(RefSeq) VPS33B late endosome and lysosome associated
  KO
K23281  vacuolar protein sorting-associated protein 33B
Organism
hsa  Homo sapiens (human)
Disease
H00624  Progressive familial intrahepatic cholestasis
H00950  Arthrogryposis, renal dysfunction, and cholestasis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    26276 (VPS33B)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   Others
    26276 (VPS33B)
SSDB
Motif
Pfam: Sec1
Other DBs
NCBI-GeneID: 26276
NCBI-ProteinID: NP_061138
OMIM: 608552
HGNC: 12712
Ensembl: ENSG00000184056
UniProt: Q9H267 A0A0S2Z577
Position
15:complement(90998416..91022621)
AA seq 617 aa
MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQLPGKKDLFIEADLMSPLDRIANVSILKQ
HEVDKLYKVENKPALSSNEQLCFLVRPRIKNMRYIASLVNADKLAGRTRKYKVIFSPQKF
YACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEFFRDYFLEGDQRWINTVAQAL
HLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTA
LCSQVVYEGLVDDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGF
LSQKARNLQAQYDRRRGMDIKQMKNFVSQELKGLKQEHRLLSLHIGACESIMKKKTKQDF
QELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLIPKDYRSLKT
QYLQSYGPEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAK
RSNFRAISKKLNLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRIIEQVLERRSWQGLDEV
VRLLNCSDFAFTDMTKEDKASSESLRLILVVFLGGCTFSEISALRFLGREKGYRFIFLTT
AVTNSARLMEAMSEVKA
NT seq 1854 nt   +upstreamnt  +downstreamnt
atggcttttccccatcggccggacgcccctgagctgcctgacttctccatgctgaagagg
ctggctcgagaccagctcatctatctgctggagcagcttcctggaaaaaaggatttattc
attgaggcagatctcatgagccctttggatcgaattgccaatgtctccatcctgaagcaa
cacgaagtagacaagctatacaaggtggagaacaagccagccctcagctccaatgaacaa
ttgtgcttcttggtcagaccccgcatcaagaatatgcgatacattgccagtcttgtcaat
gctgacaaattggctggccgaactcgcaaatacaaagtgatcttcagccctcaaaagttc
tatgcgtgtgagatggtgcttgaggaagagggaatctatggagatgtgagctgtgatgaa
tgggccttctctttgctgcctcttgatgtggatctgctgagcatggaactaccagaattt
ttcagggattactttctggaaggagatcagcgttggatcaacactgtagctcaggcctta
caccttctcagcactctctatggaccctttccaaactgctatggaattggcaggtgcgcc
aagatggcatatgaattgtggaggaacctggaggaggaggaggatggcgaaaccaagggc
cgaaggccagagattggacatatctttctcttggacagagatgtggactttgtgacagca
ctttgctcccaagtggtttatgagggcctagtagatgacaccttccgcatcaagtgtggg
agtgtcgactttggcccagaagtcacatcctctgacaagagcctgaaggtgctactcaat
gccgaggacaaggtgtttaatgagattcggaacgagcacttctccaatgtctttggcttc
ttgagccagaaggcccggaacttgcaggcccagtatgatcgccggagaggcatggacatt
aagcagatgaagaatttcgtgtcccaggagctcaagggcctgaaacaggagcaccgcctg
ctgagtctccatattggggcctgtgaatccatcatgaagaagaaaaccaagcaggatttc
caggagctaatcaagactgagcatgcactgctagaggggttcaacatccgggagagcacc
agctacattgaggaacacatagaccggcaggtgtcgcctatagaaagcctgcgcctcatg
tgccttttgtccatcactgagaatggtttgatccccaaggattaccgatctctgaaaaca
cagtatctgcagagctatggccctgagcacctgctaaccttctccaatctgcgaagagct
gggctcctaacggagcaggcccccggggacaccctcacagccgtggagagtaaagtgagc
aagctggtgaccgacaaggctgcaggaaagattactgatgccttcagttctctggccaag
aggagcaattttcgtgccatcagcaaaaagctgaatttgatcccacgtgtggacggcgag
tatgatctgaaagtgccccgagacatggcttacgtcttcggtggtgcttatgtgcccctg
agctgccgaatcattgagcaggtgctagagcggcgaagctggcagggccttgatgaggtg
gtacggctgctcaactgcagtgactttgcattcacagatatgactaaggaagacaaggct
tccagtgagtccctgcgcctcatcttggtggtgttcttgggtggttgtacattctctgag
atctcagccctccggttcctgggcagagagaaaggctacaggttcattttcctgacgaca
gcagtcacaaacagcgctcgccttatggaggccatgagtgaggtgaaagcctga

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