Homo sapiens (human): 3257
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Entry
3257 CDS
T01001
Symbol
HPS1, BLOC3S1, HPS
Name
(RefSeq) HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
KO
K20193
Hermansky-Pudlak syndrome 1 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
]
3257 (HPS1)
Membrane trafficking [BR:
hsa04131
]
Endosome - Lysosome transport
Others
BLOC-3 complex
3257 (HPS1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Fuz_longin_1
Fuz_longin_2
Fuz_longin_3
DUF4719
Motif
Other DBs
NCBI-GeneID:
3257
NCBI-ProteinID:
NP_000186
OMIM:
604982
HGNC:
5163
Ensembl:
ENSG00000107521
UniProt:
Q92902
Q658M9
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All DBs
Position
10:complement(98413948..98446935)
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AA seq
700 aa
AA seq
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MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMT
MLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHF
GLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLC
ELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILL
VQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEY
FTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKES
YCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLR
SQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCA
IYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPG
LVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTL
LFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTE
AVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL
NT seq
2103 nt
NT seq
+upstream
nt +downstream
nt
atgaagtgcgtcttggtggccactgagggcgcagaggtcctcttctactggacagatcag
gagtttgaagagagtctccggctgaagttcgggcagtcagagaatgaggaagaagagctc
cctgccctggaggaccagctcagcaccctcctagccccggtcatcatctcctccatgacg
atgctggagaagctctcggacacctacacctgcttctccacggaaaatggcaacttcctg
tatgtccttcacctgtttggagaatgcctgttcattgccatcaatggtgaccacaccgag
agcgagggggacctgcggcggaagctgtatgtgctcaagtacctgtttgaagtgcacttt
gggctggtgactgtggacggtcatcttatccgaaaggagctgcggcccccagacctggcg
cagcgtgtccagctgtgggagcacttccagagcctgctgtggacctacagccgcctgcgg
gagcaggagcagtgcttcgccgtggaggccctggagcgactgattcacccccagctctgt
gagctgtgcatagaggcgctggagcggcacgtcatccaggctgtcaacaccagccccgag
cggggaggcgaggaggccctgcatgccttcctgctcgtgcactccaagctgctggcattc
tactctagccacagtgccagctccctgcgcccggccgacctgcttgccctcatcctcctg
gttcaggacctctaccccagcgagagcacagcagaggacgacattcagccttccccgcgg
agggcccggagcagccagaacatccccgtgcagcaggcctggagccctcactccacgggc
ccaactggggggagctctgcagagacggagacagacagcttctccctccctgaggagtac
ttcacaccagctccttcccctggcgatcagagctcaggtagcaccatctggctggagggg
ggcaccccccccatggatgcccttcagatagcagaggacaccctccaaacactggttccc
cactgccctgtgccttccggccccagaaggatcttcctggatgccaacgtgaaggaaagc
tactgccccctagtgccccacaccatgtactgcctgcccctgtggcagggcatcaacctg
gtgctcctgaccaggagccccagcgcgcccctggccctggttctgtcccagctgatggat
ggcttctccatgctggagaagaagctgaaggaagggccggagcccggggcctccctgcgc
tcccagcccctcgtgggagacctgcgccagaggatggacaagtttgtcaagaatcgaggg
gcacaggagattcagagcacctggctggagtttaaggccaaggctttctccaaaagtgag
cccggatcctcctgggagctgctccaggcatgtgggaagctgaagcggcagctctgcgcc
atctaccggctgaactttctgaccacagcccccagcaggggaggcccacacctgccccag
cacctgcaggaccaagtgcagaggctcatgcgggagaagctgacggactggaaggacttc
ttgctggtgaagagcaggaggaacatcaccatggtgtcctacctagaagacttcccaggc
ttggtgcacttcatctatgtggaccgcaccactgggcagatggtggcgccttccctcaac
tgcagtcaaaagacctcgtcggagttgggcaaggggccgctggctgcctttgtcaaaact
aaggtctggtctctgatccagctggcgcgcagatacctgcagaagggctacaccacgctg
ctgttccaggagggggatttctactgctcctacttcctgtggttcgagaatgacatgggg
tacaaactccagatgatcgaggtgcccgtcctctccgacgactcagtgcctatcggcatg
ctgggaggagactactacaggaagctcctgcgctactacagcaagaaccgcccaaccgag
gctgtcaggtgctacgagctgctggccctgcacctgtctgtcatccccactgacctgctg
gtgcagcaggccggccagctggcccggcgcctctgggaggcctcccgtatccccctgctc
tag
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integrated database retrieval system
