KEGG   Homo sapiens (human): 11234
Entry
11234             CDS       T01001                                 

Gene name
HPS5, AIBP63, BLOC2S2
Definition
(RefSeq) HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
  KO
K20191  Hermansky-Pudlak syndrome 5 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]
    11234 (HPS5)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   BLOC-2 complex
    11234 (HPS5)
SSDB
Motif
Pfam: ANAPC4_WD40
Other DBs
NCBI-GeneID: 11234
NCBI-ProteinID: NP_852608
OMIM: 607521
HGNC: 17022
Ensembl: ENSG00000110756
Vega: OTTHUMG00000166612
Pharos: Q9UPZ3(Tbio)
UniProt: Q9UPZ3
Position
11p15.1
AA seq 1129 aa
MAFVPVIPESYSHVLAEFESLDPLLSALRLDSSRLKCTSIAVSRKWLALGSSGGGLHLIQ
KEGWKHRLFLSHREGAISQVACCLHDDDYVAVATSQGLVVVWELNQERRGKPEQMYVSSE
HKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVV
QLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCAR
PGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSE
HCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERC
VERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEEL
ILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDER
FKEFTSQQEEDLPDQCCGSHGNEDNVSHAPVMFETDKNETFLPFGIPLPFRSPSPLVSLQ
AVKESVSSFVRKTTEKIGTLHTSPDLKVRPELRGDEQSCEEDVSSDTCPKEEDTEEEKEV
TSPPPEEDRFQELKVATAEAMTKLQDPLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVS
DTDNSSMKLNQDVLLVNESKKGILDEDNEKEKRDSLGNEESVDKTACECVRSPRESLDDL
FQICSPCAIASGLRNDLAELTTLCLELNVLNSKIKSTSGHVDHTLQQYSPEILACQFLKK
YFFLLNLKRAKESIKLSYSNSPSVWDTFIEGLKEMASSNPVYMEMEKGDLPTRLKLLDDE
VPFDSPLLVVYATRLYEKFGESALRSLIKFFPSILPSDIIQLCHHHPAEFLAYLDSLVKS
RPEDQRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLI
LHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNG
WIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWS
LLQECGLALELSEKFTRTCDILRIAEKRQRALIQSMLEKCDRFLWSQQA
NT seq 3390 nt   +upstreamnt  +downstreamnt
atggcttttgtgccagtgataccagagtcctacagccatgttcttgcagagtttgaatct
ctggatccattactctcagccctgcggctggactccagtcgtctaaagtgcacgagcata
gctgtgtctcggaaatggttggctttgggcagttcaggaggaggactccatctcattcag
aaagaaggctggaagcacaggctttttctttcacacagggaaggtgcaatttctcaagtc
gcctgttgtttacatgatgatgattatgttgctgtagctaccagtcaaggtcttgtggtt
gtttgggaattaaatcaagagcgtcgtgggaaaccggaacaaatgtatgtgtcttcagaa
cacaaaggccgaagagtcacagctctctgctgggatacagctattcttagagtttttgta
ggtgatcatgctgggaaggtttctgctatcaaactcaatacttctaaacaagcaaaggca
gctgctgcttttgtgatgtttcctgttcagacaatcacaactgttgactcctgtgttgta
cagttagattatttggatggaaggctacttatatcttcacttactcgatccttcttgtgt
gacactgagagagaaaagttttggaaaattggaaacaaggaaagagatggagaatatgga
gcttgtttctttcctggaagatgttctgggggccagcaacctctgatatattgtgctcgc
ccaggctctaggatgtgggaagtgaactttgatggagaagttataagtacacatcagttc
aagaaactcctctcgttgccacctctccctgtgattactctcagatcagaacctcagtat
gatcatacagctggatcctcccagtctttgtctttccccaaactcttacatcttagtgag
cattgtgtgctgacttggacagaaagaggaatttatattttcattcctcagaatgttcaa
gttcttctttggagtgaagtcaaagatattcaggatgtggctgtctgtaggaatgaattg
ttctgtttgcacctaaatgggaaagtctcacatctctccctgatatctgtggagcgctgt
gtggaacgcctgctaagaagaggcctatggaacttggctgctcgtacatgctgtcttttc
caaaattctgtcattgccagcagagcaagaaaaactttgactgcagataaattggagcat
ttgaaatctcagctggaccatggcacctacaatgatctaatttctcaactggaagaattg
atcttaaaatttgaacctttggattcagcttgtagcagtagaagaagctccatttcatca
catgaaagtttcagcatcttggactctggtatttatcgtatcattagtagtagaagaggc
agtcagtcagatgaagactcttgctcccttcacagccaaaccctctcagaagatgagaga
tttaaagaattcacctcacagcaggaagaggacctgccagatcagtgttgtggctcacac
ggaaatgaagacaatgtttctcatgctccagtgatgtttgagacagataagaatgaaact
tttctcccgttcggcattccattaccatttcgttctccatctcctcttgtgtctcttcag
gctgtcaaagaaagtgtttctagctttgtgcgtaaaactactgagaagattggcaccctt
cacacgagccctgatctgaaagtgagaccagagctcaggggtgatgagcaatcatgtgaa
gaggatgtgagttcagatacctgcccaaaggaggaagacactgaggaggaaaaagaggta
actagtccacctccagaagaagacaggttccaggagcttaaagtagcaacagcagaagca
atgaccaagctacaggaccctctggttttatttgaatccgagtctctgagaatggtttta
caggagtggctttcacatttagaaaaaacatttgccatgaaggacttttcaggtgtttca
gatactgacaactcatccatgaaattgaaccaggatgtgctattagttaatgaatcaaaa
aagggaatattagatgaagataatgaaaaagaaaaaagggactctttaggcaatgaagaa
tctgttgataaaacagcatgtgaatgtgtaaggagtccaagggagtctttggatgacctg
tttcaaatatgttctccatgcgccattgcaagtggtcttcggaacgacctggctgaattg
acaacattatgtttggagttgaatgtattgaattctaagatcaaaagcaccagtggacat
gtggaccacactttgcaacagtactctcctgaaattctggcttgccagttcctgaagaag
tacttttttctcctgaacttgaaaagagcgaaggagagtatcaagcttagttacagtaat
agcccttctgtttgggatacttttattgaaggattgaaagaaatggcaagttccaatcct
gtgtatatggagatggaaaaaggagatctaccaacaaggttaaagttactagatgacgag
gttccttttgatagtccgttgttggttgtttatgctacccggttgtatgaaaagtttggg
gagtctgctcttcgatccttaatcaagttctttccatccattttgccatcggatatcata
caactttgtcatcatcatcctgctgagtttttggcctatttagacagtctggtgaaatca
aggcctgaagatcagcggtcatcttttcttgagtcccttctgcaaccagagtctttaagg
ttggattggctgcttttggcagtgtcccttgatgctccaccaagcaccagcacaatggat
gatgaaggttatcccaggcctcattcacacttgctttcctggggttacagtcagctgatc
cttcatctaattaaacttcctgcagattttataaccaaagagaaaatgacagacatctgc
aggtcttgtggtttctggcctggatatctaattctctgtttggagctggagagaagaaga
gaggccttcaccaatattgtgtatctgaatgatatgagcctgatggaaggggacaatggt
tggatcccagagaccgtggaggaatggaagcttctccttcatctcatacagagcaagagc
acgaggccagccccccaggagtcactaaatgggagcctcagtgatgggccttcccccatc
aatgtggagaatgtggcacttctgttagctaaggccatgggcccagatcgggcttggtca
ctgctacaggaatgtggtctggcccttgagttgtcagagaagtttaccagaacctgcgat
atcctgaggattgctgagaaaaggcagagggccttgatacaaagcatgcttgaaaaatgc
gatcggtttctctggtcccagcaggcctag

DBGET integrated database retrieval system