KEGG   Homo sapiens (human): 84343
Entry
84343             CDS       T01001                                 
Symbol
HPS3, BLOC2S1, SUTAL
Name
(RefSeq) HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
  KO
K20190  Hermansky-Pudlak syndrome 3 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]
    84343 (HPS3)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   BLOC-2 complex
    84343 (HPS3)
SSDB
Motif
Pfam: HPS3_C HPS3_N Sec3_C_2
Other DBs
NCBI-GeneID: 84343
NCBI-ProteinID: NP_115759
OMIM: 606118
HGNC: 15597
Ensembl: ENSG00000163755
UniProt: Q969F9
LinkDB
Position
3:149129638..149173732
AA seq 1004 aa
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFST
LGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKA
FRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFSLKYQIINEEFSLLDFERSLI
IHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGIS
NEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPD
ISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKS
VELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPV
SMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPP
VAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLE
PGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQ
KYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAM
SYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQR
KGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVD
FWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPW
VHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTR
LKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSS
LKETLSIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT
NT seq 3015 nt   +upstreamnt  +downstreamnt
atggtgcagctgtacaacctgcacccgttcgggtcgcagcaggtggtgccctgcaagctg
gagccggaccggttctgtggcggggggcgtgacgcgcttttcgtggcggcgggctgcaag
gtggaggcgttcgcggtggccggccaggagctgtgccagccgcggtgcgccttctccacg
ctgggccgggtgttgcgcctggcctacagcgaggctggagattatttggtagcaattgaa
gagaaaaacaaagctacatttctacgtgcttatgtgaactggagaaataaaaggactgaa
aactctcgtgtgtgtatccgaatgattgggcataatgtggagggaccattcagcaaagcc
ttcagagaccagatgtacattattgaaatgccgctttcggaggcccccttgtgcatttcc
tgttgccctgtgaaaggagaccttctcgttggctgcacaaataaattagtcttatttagt
ttgaagtaccagatcattaatgaggaattctcactattggactttgaacgttctttaatt
atacacatagataatatcactcctgttgaggtttctttttgtgttggatatgttgctgtc
atgtcagacttagaagtcttaatcgtaaaactggagtcaggccctaaaaatggagagaga
gttcaccaccatccacataagaccaacaatcgaataagacggacagaagaaggcatcagt
aatgaaatttcacagcttgagtcagatgattttgtcatctgccagaagcccctggaactt
cttggtgaaaaaagtgaacagtctggattatctgttacactggagtctacgggattagct
gatgaaaaaagaaaatattcccactttcagcacctgctctatagacgttttgctcctgat
atttcgtcctatgtcttgtctgatgacatcaagctacattccctccagctgctacccatt
taccagaccggttctcttacatctgatggaaaaaatttgtctcaggaaaaagaattgctg
agtctcttttgctttttctccttacctcatgtgggctatctctacatggttgtcaaatct
gttgaattgatgtcagtctaccagtatcctgaaaagtctcagcaggcagtactcacgcca
caatttttgcacgtcattacaagtaacaacctgcagtgtttcactgtgcggtgcagtgcg
gcggcagctcgtgaggaggacccgtacatggacaccaccctgaaggcttgcccacctgtc
agtatggatgtctgtgctttaagaatacagcttttcataggcttgaaagccatctgtcac
tttaaaaaccacatcatacttttgactaaagcagaacctgaagccattccagagagaaga
cagtcacccaagaggcttctttcgagaaaagataccagtgttaaaatcaaaatacctcct
gtagctgaggctgggtggaatttgtatattgtgaatacgatctcaccagtgcagctgtac
aaagagatggtagactatagcaatacctataagactgtcaaaacccagagctgcattcac
cttctcagtgaggctcatctgttagtgcgagctgccctgatggatgccagtcagctggaa
cctggagagaaggcagagcttttggaagcatttaaggaaagctgtgggcaccttggggac
tgttacagcaggcttgactcccagcattctcatctcaccttgccatactataagatgtct
ggtttgtctatggctgaagttctggcccgcacggactggacagtagaggatggattacag
aaatacgagagaggattaatcttttacattaatcattcactttatgaaaacctggatgaa
gaattaaatgaagaattagcagcaaaagtggttcagatgttttatgtggctgagccaaag
caagtgccccatattctctgtagtccttctatgaagaatattaatcctttaactgccatg
agctatctaaggaagctggatacttctgggttttcatcgatcttagtgacattgaccaag
gcagcagtggctctgaaaatgggagatcttgacatgcacagaaatgaaatgaaaagccat
tcagagatgaagttggtatgtggcttcattctggaacctcggctgttgattcaacagaga
aagggacagattgttccaaccgagcttgcacttcacttgaaggaaactcagcctggattg
cttgtggcttcagttctgggcttgcagaagaacaacaaaattggaattgaagaagcagat
tccttttttaaggtgctttgtgctaaggatgaagatacaattcctcagctcttggtagac
ttttgggaagctcagctagtggcatgtctcccagatgtggtacttcaggaactctttttc
aaactcacatcacagtacatctggagattgtctaagaggcagcctcctgacaccacacca
ttgcgaacatcggaggatctgataaatgcctgtagtcattatggcttaatttatccatgg
gttcacgtcgtaatatcatctgattctttagctgataaaaattatacagaagatctttca
aaattacagtctcttatatgtggtccttcatttgacatagcttccattattccgttcttg
gagccactttcagaagacactattgccggcctcagtgtccatgttctgtgtcgtacacgc
ttgaaagagtatgaacagtgcatagacatactgttagagagatgcccggaggcagtcatt
ccatatgctaatcatgaactgaaagaagagaaccggactctgtggtggaaaaaactgttg
cctgaactttgtcagagaataaaatgtggtggagagaagtatcaactctacctgtcatca
ttaaaagaaacattgtcaattgttgctgtggaactagaactgaaggatttcatgaatgtt
ctcccagaagatggtactgcaacatttttcttgccatatcttctctattgcagtcgaaag
aaaccattgacttaa

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