KEGG   Homo sapiens (human): 89781Help
Entry
89781             CDS       T01001                                 

Gene name
HPS4, BLOC3S2, LE
Definition
(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 (HPS)
SSDB OrthologParalogGFIT
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
22cen-q12.3
AA seq 708 aa AA seqDB search
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGV
VRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYN
GPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL
QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGH
VESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKEL
VFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDT
AISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR
MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSS
TYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYA
CCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL
NT seq 2127 nt NT seq  +upstreamnt  +downstreamnt
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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