Homo sapiens (human): 89781
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Entry
89781 CDS
T01001
Symbol
HPS4, BLOC3S2, LE
Name
(RefSeq) HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
KO
K20194
Hermansky-Pudlak syndrome 4 protein
Organism
hsa
Homo sapiens (human)
Disease
H00166
Hermansky-Pudlak syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
89781 (HPS4)
Membrane trafficking [BR:
hsa04131
]
Endosome - Lysosome transport
Others
BLOC-3 complex
89781 (HPS4)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Intu_longin_1
Intu_longin_3
Motif
Other DBs
NCBI-GeneID:
89781
NCBI-ProteinID:
NP_071364
OMIM:
606682
HGNC:
15844
Ensembl:
ENSG00000100099
UniProt:
Q9NQG7
A8K2E6
Q6P1K3
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Position
22:complement(26443109..26483863)
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AA seq
708 aa
AA seq
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MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGV
VRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYN
GPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL
QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGH
VESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKEL
VFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDT
AISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR
MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSS
TYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYA
CCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL
NT seq
2127 nt
NT seq
+upstream
nt +downstream
nt
atggccacctctacctccacagaggcaaagtcagcctcgtggtggaattatttttttctt
tatgatggttccaaggtaaaggaagaaggcgatccaacaagagctggcatttgttacttt
tatccttcccagaccctgctagaccaacaggagttgctttgtggacagattgctggagtt
gtccgctgtgtttctgacatttctgactctcctcctactcttgttcgtctgagaaaactg
aagtttgccataaaagttgatggagattacctttgggtgctgggctgtgctgtggagctc
cctgatgtcagctgcaagcggtttctggatcagctagttggattctttaatttttacaat
ggacctgtttccctagcttatgagaactgttctcaggaagaactgagcacggagtgggac
accttcatcgagcaaattctgaaaaacaccagtgatctgcataagattttcaattccctc
tggaacttggaccaaactaaagtggagcccctgttgttgctgaaggcagcccgcattctg
cagacctgccagcgctcgcctcacattctcgctggctgcatcctctataaaggactgatt
gtcagcacccaactcccgccctccctcaccgccaaggtcctgcttcaccgaacagcacct
caggagcagagactccctacgggagaggatgccccgcaggaacatggagcggcattgccc
ccgaatgtccagattatccctgtttttgtgaccaaagaggaagccattagtctccacgag
ttcccggtggaacagatgacaaggtctctagcatctccagcaggactccaggatggttca
gcccagcaccatccaaagggtgggagcacatctgccctgaaagaaaacgccactggccat
gtggaatccatggcctggaccaccccagatcccacatcccctgacgaagcttgtccagat
ggcaggaaggagaacggatgcttgtctggccatgatctggagagcatcaggcccgcagga
ctgcacaactctgccaggggtgaggttcttggcctcagctcctccctggggaaggaacta
gtctttctccaagaagaactcgacttgtctgaaatccacattccagaggctcaggaagtg
gaaatggcctcaggtcattttgccttcctacatgtgcctgttccagatggcagggctcct
tactgcaaggcatctctcagcgcctccagcagcctggaacccacgcctcctgaggacaca
gccatcagcagcttgcgccctccctctgctcctgagatgctgacccagcatggagcccaa
gagcagctcgaagaccatcctggccatagcagccaagcccccattcccagagcagaccct
ctccccagaaggacccgcaggcccttgttattgcctcgcttagatccaggacagagagga
aacaagcttcccacgggggaacaaggcctggatgaggatgttgatggggtctgtgaaagc
cacgcagcccctggtctggaatgcagttcaggctcagcaaactgtcagggtgctggcccc
tctgcagatggaatcagctccaggctgacaccagcagagtcctgcatggggctcgtgagg
atgaatctctacactcactgcgtcaaagggctggtgctgtccctgctggctgaggagccg
ctgctgggagacagcgcagccatagaggaagtgtaccacagcagcctggcttcactgaat
gggctggaagtccacctgaaagagacgctgcccagggatgaggcagcctccacgagcagc
acctacaacttcacacattacgaccgcattcagagcttgctgatggcaaacctgccgcag
gtggccaccccgcaggatcgccgcttcctccaggccgtcagcctgatgcatagcgaattt
gcccagctgcccgcgctttatgaaatgactgtcagaaatgcctccacggctgtgtacgcc
tgttgcaaccccatccaggagacatatttccagcagctggcacctgcagcacggagctcc
ggcttcccaaaccctcaggatggcgccttcagcctctccggcaaagcaaagcagaagctg
ctgaagcacggggtgaacttgctctga
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