KEGG   Homo sapiens (human): 8546
Entry
8546              CDS       T01001                                 
Symbol
AP3B1, ADTB3, ADTB3A, HPS, HPS2, PE
Name
(RefSeq) adaptor related protein complex 3 subunit beta 1
  KO
K12397  AP-3 complex subunit beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00166  Hermansky-Pudlak syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    8546 (AP3B1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    8546 (AP3B1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   AP-3 complex
    8546 (AP3B1)
 Endosome - Golgi transport
    8546 (AP3B1)
SSDB
Motif
Pfam: Adaptin_N AP3B1_C SEEEED Cnd1 HEAT_2
Other DBs
NCBI-GeneID: 8546
NCBI-ProteinID: NP_003655
OMIM: 603401
HGNC: 566
Ensembl: ENSG00000132842
UniProt: O00203 A0A0S2Z5J4
Position
5:complement(78000522..78294698)
AA seq 1094 aa
MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKL
DAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTF
QRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSL
DPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWG
QVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLL
IRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATM
SIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQF
AAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEII
KHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLG
AKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLA
QKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEW
TPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDS
SSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSS
DSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSP
SLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMV
SIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTA
SFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPS
VIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIG
SVLLRELKPVLSQG
NT seq 3285 nt   +upstreamnt  +downstreamnt
atgtccagcaatagttttccttacaatgagcagtccggaggaggggaggcgacggagctg
ggtcaggaggcgacctcaaccatttccccctcgggggccttcggcctctttagcagcgat
ttgaagaagaatgaagatctaaagcaaatgttagagagcaacaaagattctgctaaactg
gatgctatgaagcggattgttgggatgattgcaaaagggaaaaatgcatctgaactgttt
cctgctgttgtgaagaatgtggccagtaaaaatattgagatcaagaagttggtatatgtt
tacctggttcgatatgctgaagaacagcaggatcttgcactcctgtccataagcactttt
cagcgagctctgaaggacccaaaccaactaattcgtgcaagcgctttgagagttctgtca
agtattagagtgccaattattgtacctatcatgatgcttgctattaaggaagcttctgct
gacttatcaccatatgttaggaagaatgcagcccatgcaatacaaaaattatacagcctt
gatccagagcagaaggaaatgttaattgaagtaattgaaaaacttctgaaagataaaagc
acattggtagctggcagtgttgtgatggcttttgaagaagtatgcccggacagaatagat
ctgattcataaaaattaccgcaagctatgtaacttactagtggatgttgaagagtggggg
caggttgtcataatccacatgctaactcgatatgctcggacacagtttgtcagcccttgg
aaagagggtgatgaattagaagacaatggaaagaatttctacgaatctgatgatgatcag
aaggaaaagactgacaaaaagaagaagccgtatactatggatccagatcatagactctta
attagaaatacaaagcctttgcttcagagcaggaatgctgcggtggttatggcagttgct
cagctgtattggcacatatcaccaaaatctgaagctggcataatttctaaatcactagtg
cgtttacttcgtagcaatagggaggtgcagtatattgtcctacaaaatatagcaactatg
tcaattcaaagaaaggggatgtttgaaccttatctgaagagtttctatgttaggtcaact
gatccaactatgatcaagacactgaagcttgaaattttgacaaacttggcaaatgaagcc
aacatatcaactcttcttcgagaatttcagacctatgtgaaaagccaggataaacaattt
gcagcagccactattcagactataggcagatgtgcaaccaacatcttggaagtcactgac
acgtgcctcaatggcttggtctgtctgctgtccaacagggatgaaatagttgttgctgaa
agtgtggttgttataaagaaattactgcaaatgcaacctgcacaacatggtgaaattatt
aaacatatggccaaactcctggacagtatcactgttcctgttgctagagcaagtattctt
tggctaattggagaaaactgtgaacgagttcctaaaattgcccctgatgttttgaggaag
atggctaaaagcttcactagtgaagatgatctggtaaaactgcagatattaaatctggga
gcaaaattgtatttaaccaactccaaacagacaaaattgcttacccagtacatattaaat
ctcggcaagtatgatcaaaactacgacatcagagaccgtacaagatttattaggcagctt
attgttccgaatgtaaagagtggagctttaagtaaatatgccaaaaaaatattcctagca
caaaagcctgcaccactgcttgagtctccttttaaagatagagatcatttccagcttggc
accttatctcatactctcaacattaaagctactgggtacctggaattatctaattggcca
gaggtggcgcccgacccatcagttcgaaatgtagaagtaatagagttggcaaaagaatgg
accccagcaggaaaagcaaagcaagagaattctgctaagaagttttattctgaatctgag
gaagaggaggactcttctgatagtagcagtgacagtgagagtgaatctggaagtgaaagt
ggagaacaaggcgaaagtggggaggaaggagacagcaatgaggacagcagtgaggactcc
tccagtgagcaggacagtgagagtggacgggagtcaggcctagaaaacaaaagaacagcc
aagaggaactcaaaagccaaaggaaaaagtgattctgaagatggggagaaggaaaatgaa
aaatctaaaacttcagattcttcaaatgacgaatctagttcaatagaagacagttcttcc
gattctgaatcagagtcagaacctgaaagtgaatctgaatccagaagagtcactaaggag
aaagaaaagaaaacaaagcaagatagaactcctcttaccaaagatgtttcacttctagat
ctggatgattttaacccagtatccactccagttgcacttcccacaccagctctttctcca
agtttgatggctgatcttgaaggtttacacttgtcaacttcctcttcagtcatcagtgtc
agtactcctgcatttgtaccaacgaaaactcacgtgctgcttcatcgaatgagtggaaaa
ggactagctgcccattatttctttccaagacagccttgcatttttggtgataagatggtc
tctatacaaataacactgaataacactactgatcgaaagatagaaaatatccacataggg
gaaaaaaaacttcctataggcatgaaaatgcatgtttttaatccaatagactctcttgag
cctgagggatccattacagtttcaatgggtattgacttttgtgattctactcagactgcc
agtttccagttgtgtaccaaggatgattgcttcaatgttaatattcagccacctgttgga
gaactgcttttacctgtggccatgtcagagaaagattttaagaaagagcaaggagtgcta
acaggaatgaatgaaacttctgctgtaatcattgctgcaccacagaatttcactccctct
gtgatctttcagaaggttgtaaatgtagccaatgtaggtgcagtcccttctggccaggat
aatatacacaggtttgcagctaaaactgtgcacagtgggtcattgatgctagtcacagtg
gaactgaaggaaggctctacagcccagcttatcataaacactgagaaaactgtgattggc
tctgttctgctgcgggaactgaagcctgtcctgtctcaggggtaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (32)   
   KEGG ORTHOLOGY (1)   
   RefGene (15)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (11)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (31)   
   RefSeq(nuc) (3)   
   GenBank (14)   
   EMBL (14)   
Protein domain (5)   
   Pfam (5)   
All databases (81)   

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