| Entry |
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| Symbol |
HPS6, BLOC2S3
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| Name |
(RefSeq) HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
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| KO |
| K20192 | Hermansky-Pudlak syndrome 6 protein |
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| Organism |
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| Disease |
| H00166 | Hermansky-Pudlak syndrome |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:hsa04131]
79803 (HPS6)
Membrane trafficking [BR:hsa04131]
Endosome - Lysosome transport
Others
BLOC-2 complex
79803 (HPS6)
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| SSDB |
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| Motif |
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| Other DBs |
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| LinkDB |
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| Position |
10:102065349..102068036
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| AA seq |
775 aa
MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLLLLRPPGAVAPQLLVAS
RGPGAELERAWPAGQPSPLDAFFLPWPARPALVLVWESGLAEVWGAGVGPGWRPLQSTEL
CPGGGARVVAVAALRGRLVWCEERQARAEGPSGSPAAAFSHCVCVRTLEPSGEASTSLGR
THVLLHHCPAFGLLASCRQLFLVPTATTWPGVAHVLLIWSPGKGKVMVAAPRLGLSYSKS
LNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPTPQGLLLLDFGGTVSLLQSHGGTRA
VGTLQEAPVGPWGSAALGTFQGTLACVLGSTLELLDMGSGQLLERKVLSTDRVHLLEPPA
PGMEDEEELETRGNLRLLSALGLFCVGWEAPQGVELPSAKDLVFEEACGYYQRRSLRGAQ
LTPEELRHSSTFRAPQALASILQGHLPPSALLTMLRTELRDYRGLEQLKAQLVAGDDEEA
GWTELAEQEVARLLRTELIGDQLAQLNTVFQALPTAAWGATLRALQLQLDGNGKLRSQAP
PDVWKKVLGGITAGKEPPNGILPPFELLCQCLCQLEPRWLPPFVELAQQQGGPGWGAGGP
GLPLYRRALAVLGEEGTRPEALELELLLSSGRPKAVLQAVGQLVQKEQWDRALDAGLALG
PSSPLLRSEIFKLLLAEFAQHRRLDAHLPLLCRLCPPELAPAELLLLLRTYLPDEVGPPT
PFPEPGAEPPLTVGLLKALLEQTGAQGWLSGPVLSPYEDILWDPSTPPPTPPRDL |
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| NT seq |
2328 nt +upstreamnt +downstreamnt
atgaagcgctcggggactctgcggctgctctcggacctgagcgccttcggcggcgcggcg
cggctccgggagctggtggccggggactcagcggtccgagtccgtggcagtccggacggc
cgccacttgctgctcctgcgaccccctggggcggtagccccacagctgctagtcgcgtcg
cgagggcccggcgcggagctagagcgggcctggccggccggccagccctccccgctggac
gccttcttcctgccgtggccagcgcggccggcgctggtgctggtgtgggagagtggcctg
gccgaggtgtggggcgcgggcgtggggcctggctggcggccgctgcagagcaccgagctg
tgtccgggcgggggagcccgcgttgtggcagtggcggcgctccgaggccgcctggtgtgg
tgcgaggagcggcaggcccgggccgagggcccgtcagggtcgccagcagccgctttcagc
cactgtgtgtgcgtccggactctggagcccagcggggaagctagcaccagcctgggccgc
acacacgtcctgctgcaccactgccctgccttcgggctgctggcctcctgcagacaactc
ttcctggtgcccactgccaccacctggcctggcgtggcccacgttctactcatctggagc
ccaggcaagggcaaagtgatggtggctgccccacggcttggtctctcctacagtaagagt
ctgaatcctggacgaggggacacatgggacttccggaccctgctccgaggccttcctggg
ttgctgtcccccagggagccactggctgtacacacctgggccccaactccccagggcctg
ctgttgcttgacttcgggggcactgtgagcctattgcagtcccacggtggtacgcgggct
gtgggcaccctgcaggaggcacctgtaggcccgtgggggtctgcagccctaggcacattt
cagggcactctggcctgtgtgctgggctccacattggaactgctggacatgggcagtggg
cagctgctggagaggaaggtcctaagtacagacagggtacatctgctagaaccgccagcc
cccggcatggaggatgaggaagagctggagacccgagggaatcttcgtctgctttcagcc
ttgggtctgttttgtgtgggctgggaagccccacagggtgttgagttgccttcagccaag
gatctggtgtttgaggaggcctgcgggtactaccagcggcggagcctgcggggtgcccag
ctcactccagaagaactgagacacagcagcacattccgggcacctcaggctctggcctcc
atcctccagggccacctgcccccatctgcactgctgaccatgttgaggaccgagcttcgg
gattaccgaggcttagaacagctgaaggcccagctggtggctggggatgatgaggaggct
ggttggactgagctggcggagcaggaagtggcacgcctgctgaggactgagttgatagga
gaccagctagcccagctcaacaccgttttccaagcccttcctacagcagcctggggtgcc
accctcagggccctgcagctccagctagatgggaatggcaagctgaggtcccaagcaccc
cctgatgtgtggaagaaagtgttagggggaataaccgctggaaaggaaccccccaatgga
atactgcccccctttgaactcctgtgccagtgtctgtgccagctggagcctcgatggctg
ccaccctttgtggagctggcacagcagcagggcgggccgggctggggggcagggggccca
ggactgcccctgtatcgccgagctctggcagtgctaggtgaggaggggaccaggcctgag
gctctggagctagagctgctcttgagcagtgggcggcctaaagctgtgctccaagctgtc
gggcagctggtgcaaaaggaacaatgggatcgggctctggatgctggcctggccctcggc
ccctccagtcccctgcttcgaagtgaaatcttcaaactgctgctggccgagtttgcccag
caccgccggcttgatgctcacctccccctcctttgccgcctgtgcccaccagaactggct
ccagctgagctcctgcttctactgaggacatacctcccagatgaggtggggcccccaacc
ccattccctgagcctggagcagagccccctctcactgtgggcttgctcaaagccctgctg
gagcagactggggctcaaggatggctgtcgggcccagttctaagcccatatgaggacatc
ctatgggaccccagcactccacccccgactccacctcgggacctatga |
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