KEGG   Homo sapiens (human): 8943
Entry
8943              CDS       T01001                                 
Symbol
AP3D1, ADTD, HPS10, hBLVR
Name
(RefSeq) adaptor related protein complex 3 subunit delta 1
  KO
K12396  AP-3 complex subunit delta
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
    8943 (AP3D1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    8943 (AP3D1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   AP-3 complex
    8943 (AP3D1)
 Endosome - Golgi transport
    8943 (AP3D1)
SSDB
Motif
Pfam: Adaptin_N AP3D1 Cnd1 HEAT INTS1_R4 HEAT_2 RTP1_C1 RasGEF_N_2 Vac14_Fab1_bd CEP104-like_TOG Saf4_Yju2
Other DBs
NCBI-GeneID: 8943
NCBI-ProteinID: NP_003929
OMIM: 607246
HGNC: 568
Ensembl: ENSG00000065000
UniProt: O14617
Structure
Position
19:complement(2100988..2164616)
AA seq 1153 aa
MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVC
KLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDL
SSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPES
LRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIK
IIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSAS
IQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRA
LDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYIS
ILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICE
VLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQA
GEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALF
AGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEA
DEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPM
SDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEE
MPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKK
SKKPKKKEKKHKEKERDKEKKKEKEKKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEE
AAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSI
LKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGT
LSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMS
FQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLS
NLLEEMKATLAKC
NT seq 3462 nt   +upstreamnt  +downstreamnt
atggccctcaagatggtgaagggcagcatcgaccgcatgttcgacaagaatctgcaggac
ttggtccgcggcatccgtaaccacaaggaggacgaggcaaaatacatatctcagtgcatt
gatgagatcaagcaggagctgaagcaggacaacatagcggtgaaggcgaacgcggtctgc
aagctgacgtatttacagatgttgggatacgacatcagctgggccgccttcaacatcata
gaagtgatgagtgcctccaagttcaccttcaagcgaattggctacctcgctgcttcccag
agctttcacgaaggcaccgacgtcatcatgctgaccaccaatcagatccgtaaggacttg
agcagccccagccagtacgacacaggtgttgcactgacgggtctgtcctgcttcgtcacc
ccagaccttgccagagacctggcaaatgacatcatgacactgatgtcacacaccaagccc
tacatcaggaagaaggctgtgctgatcatgtacaaggtgttcctgaagtaccccgagtcg
ctgcgccctgcctttccccggctgaaggagaagctggaggaccccgaccccggggttcag
tcggctgccgtcaatgtcatctgcgagctggccagacgcaaccctaagaactacctgtcc
ctggccccgctctttttcaagctgatgacgtcctccaccaacaactgggtcctcatcaag
atcatcaagctgttcggtgctcttactcctttggaaccgcggctgggcaagaagctgatc
gagcccctcaccaatctcatccacagcacgtctgccatgtctctcctctatgaatgtgtg
aacaccgtgattgcagtgctcatctcgctgtcctccggcatgcccaaccacagcgccagc
atccagctttgtgttcagaaattaaggatattgatcgaggactccgatcagaacttgaag
tacctggggctgctggcaatgtccaagatcctgaagacccaccccaagtccgtgcagtcc
cacaaggacctcatcctgcagtgcctggacgacaaggacgagtccatccggctgcgggcc
ctggacctgctctatgggatggtgtccaagaagaacctgatggagatcgtgaagaagctg
atgacccacgtagacaaggcagagggtaccacctaccgtgacgagctgctcaccaagatc
attgacatctgcagccagtccaactaccagtacatcaccaacttcgagtggtacatcagc
atcctggtggagctgacccggctggagggcacacggcacggccacctcatcgccgcccaa
atgctggacgtggccatccgcgtgaaggccatccgcaagttcgccgtgtcccagatgtct
gcgctgcttgacagtgcacacctgctggccagcagcacccagcggaacgggatctgtgag
gtgctgtacgctgccgcctggatctgcggggagttctcagagcatctgcaggaaccacac
cacactttggaggccatgctgcggcccagagtcaccacgctgccaggccacatccaggcc
gtgtatgtgcagaacgtggtcaagctctacgcctccatcctgcagcagaaggagcaggcc
ggggaggcagagggcgctcaggccgtcacccagctcatggtggaccggctgccccagttt
gtgcagagcgcagacctggaggtgcaggagcgggcgtcctgcatcctgcagctggtcaag
cacatccagaagcttcaggccaaggacgtgcctgtggcagaggaggtcagcgctctcttt
gctggggagctgaacccagtggcccccaaggcccagaagaaggttccagtccccgaaggc
ctggacctggacgcctggatcaatgagccactctcggacagcgagtcagaggacgagagg
cccagggccgtcttccacgaggaggagcagcggcgtcccaagcaccggccgtcggaggcg
gacgaggaagagctggctcggcgccgagaggcccggaagcaggagcaggccaacaacccc
ttctacatcaagagctcgccatcgccacagaagcggtaccaggacaccccgggcgtggag
cacattcccgtggtgcagattgacctctccgtccccttgaaggttccagggctgcctatg
tcagatcagtatgtgaagctggaggaggagcggcggcaccggcagaagctggagaaggac
aagaggaggaaaaagaggaaggagaaggagaagaagggcaagcgccgccacagctcgctg
cccacggagagcgacgaggacatcgcccctgcccagcaggtggacatcgtcacagaggag
atgcctgagaatgctctgcccagcgacgaggatgacaaagaccccaacgacccctacagg
gctctggatattgacctggataagcccttagccgacagcgagaaactgcctattcagaaa
cacagaaacaccgagacctcaaaatcccctgagaaggacgttcccatggtagaaaagaag
agcaagaaacccaagaagaaagagaaaaaacacaaagagaaagagagagacaaggagaag
aagaaggagaaggagaagaagaaatctcccaagcctaagaagaagaagcacaggaaggag
aaggaggagcggaccaaaggcaagaagaagtccaagaagcagcctccaggcagcgaggag
gcagcgggggagccggtgcagaatggcgcgccagaggaggagcagctcccgcctgagtcc
agctactccctcctcgctgaaaattcctatgttaaaatgacctgtgacatccggggcagt
ctgcaggaggacagccaggtcactgtggccatcgtgctggagaacaggagcagcagcatc
ctcaagggcatggagctcagcgtgctggactcactcaatgccaggatggcccggccgcag
ggctcctccgtccacgatggcgtccccgtgcctttccagctgcccccaggcgtctccaac
gaagcccagtatgtgttcaccatccagagcatcgtcatggcgcagaagctcaaggggacc
ctgtccttcattgccaagaatgacgagggtgcgacccacgagaagctggacttcaggctg
cacttcagctgcagctcctacttgatcaccactccctgctacagtgacgcctttgctaag
ttgctggagtctggggacttgagcatgagctcaatcaaagtcgatggcattcggatgtcc
ttccagaatcttctggcgaagatctgttttcaccaccatttttccgttgtggagcgagtg
gactcctgcgcctccatgtacagccgctccatccagggccaccatgtctgcctcctggtg
aaaaagggtgagaactctgtctcagtcgacgggaagtgcagtgactccacgctactgagc
aacttgttagaagagatgaaggcgacgctggccaagtgttga

  All links  
Disease (2)   
   OMIM (2)   
Gene (46)   
   RefGene (35)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (42)   
   RefSeq(nuc) (12)   
   GenBank (15)   
   EMBL (15)   
3D Structure (5)   
   PDB (5)   
Protein domain (11)   
   Pfam (11)   
All databases (119)   

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