KEGG   Homo sapiens (human): 10239
Entry
10239             CDS       T01001                                 
Symbol
AP3S2, AP3S3, sigma3b
Name
(RefSeq) adaptor related protein complex 3 subunit sigma 2
  KO
K12399  AP-3 complex subunit sigma
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    10239 (AP3S2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    10239 (AP3S2)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   AP-3 complex
    10239 (AP3S2)
 Endosome - Golgi transport
    10239 (AP3S2)
SSDB
Motif
Pfam: Clat_adaptor_s
Other DBs
NCBI-GeneID: 10239
NCBI-ProteinID: NP_005820
OMIM: 602416
HGNC: 571
Ensembl: ENSG00000157823
UniProt: P59780
LinkDB
Position
15:complement(89830599..89893994)
AA seq 193 aa
MIQAILVFNNHGKPRLVRFYQRFPEEIQQQIVRETFHLVLKRDDNICNFLEGGSLIGGSD
YKLIYRHYATLYFVFCVDSSESELGILDLIQVFVETLDKCFENVCELDLIFHMDKVHYIL
QEVVMGGMVLETNMNEIVAQIEAQNRLEKSEGGLSAAPARAVSAVKNINLPEIPRNINIG
DLNIKVPNLSQFV
NT seq 582 nt   +upstreamnt  +downstreamnt
atgattcaggcgattctggttttcaacaaccatgggaagccacggctagtccgcttctac
cagcgtttcccagaagaaattcaacagcagattgttcgagagactttccatctagtcctc
aagcgggatgacaacatctgtaacttcttggagggtggaagtttgattggtggctctgac
tacaaactgatctaccggcactatgctaccctctactttgtattttgtgtggattcctca
gagagtgaacttggaatcttggacctcatccaggtttttgtggaaactctggataagtgt
ttcgaaaatgtgtgtgaattggatttgatcttccatatggataaggtgcactacatcctc
caggaggtggtgatgggtgggatggtgttggaaacaaacatgaatgaaatcgtggctcag
attgaggctcaaaacaggctggagaaatccgagggtggcctttcagcagcccctgcgcgg
gctgtgtctgctgtgaaaaacatcaacctgccagagattcctcggaacatcaacattggc
gatctcaacatcaaagttcccaacctgtcccagtttgtctga

KEGG   Homo sapiens (human): 10947
Entry
10947             CDS       T01001                                 
Symbol
AP3M2, AP47B, CLA20, P47B
Name
(RefSeq) adaptor related protein complex 3 subunit mu 2
  KO
K12398  AP-3 complex subunit mu
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    10947 (AP3M2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    10947 (AP3M2)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   AP-3 complex
    10947 (AP3M2)
 Endosome - Golgi transport
    10947 (AP3M2)
SSDB
Motif
Pfam: Adap_comp_sub Clat_adaptor_s DUF11
Other DBs
NCBI-GeneID: 10947
NCBI-ProteinID: NP_001127768
OMIM: 610469
HGNC: 570
Ensembl: ENSG00000070718
UniProt: P53677 A0A384NYL6
LinkDB
Position
8:42153063..42171183
AA seq 418 aa
MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVY
RHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQDYFGVCSEPVIKDNVVVVYEVLEEMLDNG
FPLATESNILKELIKPPTILRTVVNTITGSTNVGDQLPTGQLSVVPWRRTGVKYTNNEAY
FDVIEEIDAIIDKSGSTITAEIQGVIDACVKLTGMPDLTLSFMNPRLLDDVSFHPCVRFK
RWESERILSFIPPDGNFRLLSYHVSAQNLVAIPVYVKHNISFRDSSSLGRFEITVGPKQT
MGKTIEGVTVTSQMPKGVLNMSLTPSQGTHTFDPVTKMLSWDVGKINPQKLPSLKGTMSL
QAGASKPDENPTINLQFKIQQLAISGLKVNRLDMYGEKYKPFKGIKYMTKAGKFQVRT
NT seq 1257 nt   +upstreamnt  +downstreamnt
atgatccatagtcttttcttgatcaactcctctggagacattttcctggagaaacattgg
aaaagtgtggtcagccgttctgtttgtgattacttttttgaggcgcaagagagagctact
gaggcagaaaatgtgcctccggttatccctacccctcaccactatctcttaagtgtttac
cgccacaagatcttttttgtggccgtgatccagacggaggtcccccctctgtttgtcatt
gagtttcttcaccgagtggtggacacatttcaggattattttggagtctgttcagagcca
gtgatcaaagacaatgtagttgtggtttatgaggtattggaagagatgcttgacaatggt
tttccattggctaccgagtcgaacattcttaaagaactcataaagcctcctaccatcctt
cgaacggttgtcaacaccatcacaggaagcacgaatgtgggtgaccagcttcccactggg
cagctgtcagtggtgccttggcgacggactggggtgaaatataccaacaatgaggcctat
tttgatgtgattgaagagattgatgcaattattgataaatcaggctccacaattactgct
gagatccagggggtgattgatgcctgtgtcaagctgactggcatgccagaccttacactt
tccttcatgaaccctaggttgttggatgatgtcagcttccatccttgtgttcgtttcaaa
cgctgggaatctgagcgcatcctctccttcatccctcctgatggaaacttccgcctgctg
tcttaccatgtcagtgcacagaatctggttgcaatcccagtgtatgtcaaacataacatc
agtttccgggacagtagttcccttggacgctttgaaataacggtgggacccaagcagacg
atggggaagaccattgagggagtgactgtcaccagccagatgcccaagggggtcctgaac
atgagccttactccatcacaggggacacacacattcgacccagtcacaaagatgctgtct
tgggatgtaggaaaaataaatccacaaaagctaccaagtttgaaggggaccatgagtctt
caggctggagcttccaaaccagatgaaaaccccacaattaacctgcagtttaagatccag
cagctggccatttctggactcaaggtgaatcgtctggatatgtatggagaaaagtacaaa
ccctttaagggcataaaatacatgaccaaagctgggaagttccaagttcgaacctga

KEGG   Homo sapiens (human): 1176
Entry
1176              CDS       T01001                                 
Symbol
AP3S1, CLAPS3, Sigma3A
Name
(RefSeq) adaptor related protein complex 3 subunit sigma 1
  KO
K12399  AP-3 complex subunit sigma
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    1176 (AP3S1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1176 (AP3S1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   AP-3 complex
    1176 (AP3S1)
 Endosome - Golgi transport
    1176 (AP3S1)
SSDB
Motif
Pfam: Clat_adaptor_s
Other DBs
NCBI-GeneID: 1176
NCBI-ProteinID: NP_001275
OMIM: 601507
HGNC: 2013
Ensembl: ENSG00000177879
UniProt: Q92572
LinkDB
Position
5:115841935..115914081
AA seq 193 aa
MIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSD
NKLIYRHYATLYFVFCVDSSESELGILDLIQVFVETLDKCFENVCELDLIFHVDKVHNIL
AEMVMGGMVLETNMNEIVTQIDAQNKLEKSEAGLAGAPARAVSAVKNMNLPEIPRNINIG
DISIKVPNLPSFK
NT seq 582 nt   +upstreamnt  +downstreamnt
atgatcaaggcgatcctaatcttcaacaaccacgggaagccgcggctctccaagttctac
cagccctacagtgaagatacacaacagcaaatcatcagggagactttccatttggtatct
aagagagatgaaaatgtttgtaatttcctagaaggaggattattaattggaggatctgac
aacaaactgatttatagacattatgcaacgttatattttgtcttctgtgtggattcttca
gaaagtgaacttggcattttagatctaattcaagtatttgtggaaacattagacaaatgt
tttgaaaatgtctgtgagctggatttgattttccatgtagacaaggttcacaatattctt
gcagaaatggtgatggggggaatggtattggagacaaatatgaatgagattgttacacaa
attgatgcacaaaataagctggaaaaatctgaggctggcttagcaggagctccagcccgt
gctgtatcagctgtaaagaatatgaatcttcctgagatcccaagaaatattaacattggt
gacatcagtataaaagtgccaaacctgccctcttttaaataa

KEGG   Homo sapiens (human): 26985
Entry
26985             CDS       T01001                                 
Symbol
AP3M1
Name
(RefSeq) adaptor related protein complex 3 subunit mu 1
  KO
K12398  AP-3 complex subunit mu
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    26985 (AP3M1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    26985 (AP3M1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   AP-3 complex
    26985 (AP3M1)
 Endosome - Golgi transport
    26985 (AP3M1)
SSDB
Motif
Pfam: Adap_comp_sub Clat_adaptor_s
Other DBs
NCBI-GeneID: 26985
NCBI-ProteinID: NP_001307192
OMIM: 610366
HGNC: 569
Ensembl: ENSG00000185009
UniProt: Q9Y2T2
LinkDB
Position
10:complement(74120255..74150828)
AA seq 418 aa
MIHSLFLINCSGDIFLEKHWKSVVSQSVCDYFFEAQEKAADVENVPPVISTPHHYLISIY
RDKLFFVSVIQTEVPPLFVIEFLHRVADTFQDYFGECSEAAIKDNVVIVYELLEEMLDNG
FPLATESNILKELIKPPTILRSVVNSITGSSNVGDTLPTGQLSNIPWRRAGVKYTNNEAY
FDVVEEIDAIIDKSGSTVFAEIQGVIDACIKLSGMPDLSLSFMNPRLLDDVSFHPCIRFK
RWESERVLSFIPPDGNFRLISYRVSSQNLVAIPVYVKHSISFKENSSCGRFDITIGPKQN
MGKTIEGITVTVHMPKVVLNMNLTPTQGSYTFDPVTKVLTWDVGKITPQKLPSLKGLVNL
QSGAPKPEENPSLNIQFKIQQLAISGLKVNRLDMYGEKYKPFKGVKYVTKAGKFQVRT
NT seq 1257 nt   +upstreamnt  +downstreamnt
atgatccacagtctatttctcataaactgttccggtgacatatttctagagaagcactgg
aagagcgttgtgagccagtctgtctgtgattatttctttgaagctcaagagaaagctgct
gatgttgaaaatgtaccacctgtcatttcaacacctcaccactacctcatcagtatctac
cgggataagctcttctttgtatctgtcatacagaccgaagtgccacctctctttgtaatt
gagttcctacatcgagttgctgacacttttcaggactactttggtgagtgttcagaggct
gcaattaaggataatgtggtcatagtatatgaactcttagaagaaatgttagacaatgga
tttccactggctaccgaatctaacattttgaaagaattgattaaaccaccaacaattcta
cgctctgttgtcaactctattacaggcagtagtaatgttggggacacactccccaccggg
cagctgtccaacataccatggcgtcgggcaggggtaaagtacacaaacaatgaagcctat
tttgatgttgttgaagaaatagacgcaattatagataaatcaggatctacagtctttgca
gaaattcagggggtcattgatgcttgcattaaactatctggaatgcctgatctctccctt
tctttcatgaaccctaggcttctggatgatgtcagctttcacccctgcatccggttcaag
cgttgggaatctgaaagagttttgtcatttattcctccagatggaaatttccgactcata
tcataccgtgtcagctcacaaaatctagtggcaataccagtgtatgtgaaacatagtatc
agctttaaggagaacagttcttgcggcagatttgatataacaattggaccaaagcagaat
atggggaaaactattgaaggaattacagtgacagttcacatgccaaaagttgtgctgaac
atgaacctgacacccacacaaggcagctatacatttgatccagtcaccaaggtactaaca
tgggatgtgggaaaaattactccacaaaagctcccaagtcttaaaggactggtaaattta
cagtctggagcccccaaaccagaagagaatccgagcctcaacatacagtttaagatccag
cagcttgctatttcaggcttaaaagtaaaccgtttggacatgtatggggagaaatataag
ccatttaaaggagtcaaatacgtcacgaaagctggaaagttccaagtgaggacatga

KEGG   Homo sapiens (human): 8120
Entry
8120              CDS       T01001                                 
Symbol
AP3B2, DEE48, EIEE48, NAPTB
Name
(RefSeq) adaptor related protein complex 3 subunit beta 2
  KO
K12397  AP-3 complex subunit beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    8120 (AP3B2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    8120 (AP3B2)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   AP-3 complex
    8120 (AP3B2)
 Endosome - Golgi transport
    8120 (AP3B2)
SSDB
Motif
Pfam: Adaptin_N AP3B1_C Cnd1 HEAT_2 PDS5
Other DBs
NCBI-GeneID: 8120
NCBI-ProteinID: NP_004635
OMIM: 602166
HGNC: 567
Ensembl: ENSG00000103723
UniProt: Q13367
LinkDB
Position
15:complement(82659281..82709875)
AA seq 1082 aa
MSAAPAYSEDKGGSAGPGEPEYGHDPASGGIFSSDYKRHDDLKEMLDTNKDSLKLEAMKR
IVAMIARGKNASDLFPAVVKNVACKNIEVKKLVYVYLVRYAEEQQDLALLSISTFQRGLK
DPNQLIRASALRVLSSIRVPIIVPIMMLAIKEAASDMSPYVRKTAAHAIPKLYSLDSDQK
DQLIEVIEKLLADKTTLVAGSVVMAFEEVCPERIDLIHKNYRKLCNLLIDVEEWGQVVII
SMLTRYARTQFLSPTQNESLLEENAEKAFYGSEEDEAKGAGSEETAAAAAPSRKPYVMDP
DHRLLLRNTKPLLQSRSAAVVMAVAQLYFHLAPKAEVGVIAKALVRLLRSHSEVQYVVLQ
NVATMSIKRRGMFEPYLKSFYIRSTDPTQIKILKLEVLTNLANETNIPTVLREFQTYIRS
MDKDFVAATIQAIGRCATNIGRVRDTCLNGLVQLLSNRDELVVAESVVVIKKLLQMQPAQ
HGEIIKHLAKLTDNIQVPMARASILWLIGEYCEHVPRIAPDVLRKMAKSFTAEEDIVKLQ
VINLAAKLYLTNSKQTKLLTQYVLSLAKYDQNYDIRDRARFTRQLIVPSEQGGALSRHAK
KLFLAPKPAPVLESSFKDRDHFQLGSLSHLLNAKATGYQELPDWPEEAPDPSVRNVEVPE
WTKCSNREKRKEKEKPFYSDSEGESGPTESADSDPESESESDSKSSSESGSGESSSESDN
EDQDEDEEKGRGSESEQSEEDGKRKTKKKVPERKGEASSSDEGSDSSSSSSESEMTSESE
EEQLEPASWSRKTPPSSKSAPATKEISLLDLEDFTPPSVQPVSPPAIVSTSLAADLEGLT
LTDSTLVPSLLSPVSGVGRQELLHRVAGEGLAVDYTFSRQPFSGDPHMVSVHIHFSNSSD
TPIKGLHVGTPKLPAGISIQEFPEIESLAPGESATAVMGINFCDSTQAANFQLCTQTRQF
YVSIQPPVGELMAPVFMSENEFKKEQGKLMGMNEITEKLMLPDTCRSDHIVVQKVTATAN
LGRVPCGTSDEYRFAGRTLTGGSLVLLTLDARPAGAAQLTVNSEKMVIGTMLVKDVIQAL
TQ
NT seq 3249 nt   +upstreamnt  +downstreamnt
atgtcggccgcccccgcctacagcgaagacaagggcggctccgctggccccggggagccc
gagtacggccacgaccccgcgagcggcggcatcttctcctccgactacaagcggcatgat
gacctgaaggagatgctggacaccaacaaggattctctcaagctggaggccatgaagagg
attgtggcgatgattgcccgaggaaagaatgcttcagacctgtttcccgcggtggtgaag
aacgtggcctgtaagaacatagaggtgaagaagcttgtctatgtgtacctggtacgctac
gctgaggagcagcaagacctggccctgctgtccatctccaccttccaacgtggcctaaag
gatcccaaccagctgattcgtgccagtgccctccgtgtcctctctagcatccgtgtgccc
atcatagtgcccatcatgatgctagctatcaaggaagccgcctcggacatgtcaccctat
gtgcggaaaacagctgcccacgccatccctaaactctacagtttggactctgaccagaag
gatcagctgatagaagtcattgagaagcttctggctgacaagaccacgctggtggcgggc
agtgtggtgatggcctttgaggaggtctgcccggagcgcatcgacctgattcacaaaaac
taccggaaactctgtaacctgctgatcgacgtggaggagtggggccaggtggtcatcatc
agcatgctcacccgctacgcccgcacgcagttcctgagccccacccagaacgaatcccta
ctagaggagaacgcggaaaaagccttctacggctcagaggaggacgaggccaagggcgcg
gggtctgaggagacggccgccgcggccgccccctcccgaaagccctatgtcatggacccc
gaccaccggctgctgctgcgcaacaccaaacccctgctgcagagccgcagcgccgcggtg
gtgatggcggtggcgcagctctacttccacctggcgcccaaggcggaagtgggcgtcatc
gccaaggcgctggtgcgcctgctgcgcagccacagtgaggtgcagtacgttgtgctccag
aacgtggccaccatgtccatcaagcgccggggtatgtttgagccctacctgaagagcttc
tacatcaggtccaccgaccccacccagattaagatcctgaagctggaagtgctgaccaac
ctggccaatgagaccaacattcctactgtcctacgggaattccagacctatattcgcagc
atggacaaggactttgtggcagccacaatccaggccattggacgctgtgcaactaacatc
ggccgagtccgtgacacctgcctcaatggcctggtgcagctgctgtccaaccgtgatgag
cttgtggttgcagagtcagtggtcgtcattaagaaattgctacagatgcagccagcacaa
catggagagatcatcaaacacttggcaaagcttacagacaacatccaggtgcccatggcc
cgagccagcatcctgtggctcatcggagagtactgtgagcatgtccccaggattgcacct
gatgtcttaagaaaaatggccaagtcattcacagcagaggaggatattgtcaagctgcag
gtcatcaacctggcagccaagctctacctgaccaactctaaacagaccaagctgctgacc
cagtatgtgctgagtctggccaaatatgaccagaactatgatattcgcgaccgggcgcgc
ttcacccggcagctcatcgtcccttccgagcagggtggggccctcagccgccatgccaag
aagctcttcctggcacccaaaccagctccagtcttggagtcatccttcaaagaccgggac
cacttccagctgggctcactgtcccacctgcttaatgccaaggccacaggctaccaggag
ctcccagactggccggaggaagccccagacccatctgtgcgcaacgtggaggtacctgaa
tggaccaagtgctcaaatcgggagaagagaaaggagaaggaaaaacccttctactcggac
tctgagggggagtcaggccccacggagtccgcagacagtgaccctgagtctgagagtgaa
tcggacagtaagagcagcagtgagagcggctctggggagtccagcagtgagtccgacaat
gaagaccaggatgaggatgaggagaaagggagaggcagtgagagtgaacagagtgaggag
gatggtaagaggaagacaaagaagaaggtgccagagagaaaaggagaagcgtcatcctct
gatgagggcagcgattccagcagtagctcatcagagtccgagatgacatcggagtccgag
gaggagcagttagaacctgcctcctggagcaggaaaacacctcccagcagcaaaagtgct
cctgcaaccaaggagatctccctgcttgatctagaggatttcacccctcccagtgtccag
cctgtgtctcccccagcaattgtgtctaccagtctggctgctgacctggagggcctgaca
ctcacagactccaccctggtaccgtcgcttctgagtccagtatcgggtgttgggcggcag
gagctgctgcaccgggtagctggcgaggggctggctgtggactacaccttcagccgccaa
cctttctccggggatccccacatggtgtccgtgcacatccacttctccaacagctctgat
acccccatcaagggcctgcatgtgggcactcccaaactgcctgctggcatcagcatccaa
gaatttcccgaaattgagtccctggcacctggagaatctgccactgctgtaatgggcatt
aatttctgtgactcaacccaggcagccaacttccagctgtgcacccagacccgacagttc
tacgtctccattcagccacctgttggggagctgatggcccctgtgttcatgagtgaaaat
gagtttaagaaggaacagggaaagctgatgggcatgaatgagatcacagagaaactcatg
ctgccagacacctgtcggagtgaccacattgtggtgcagaaagtgactgccactgccaac
ctgggtcgtgttccttgtgggacatctgatgagtacaggtttgcagggaggacactgact
ggtggaagcctcgttctgctgaccctggatgcccggccagctggagctgcccagctgact
gtcaacagcgagaaaatggtgattggcaccatgctggtaaaggatgtgatacaggctctg
acccagtga

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 INTS1_R4
Other DBs
NCBI-GeneID: 8546
NCBI-ProteinID: NP_003655
OMIM: 603401
HGNC: 566
Ensembl: ENSG00000132842
UniProt: O00203 A0A0S2Z5J4
LinkDB
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

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
LinkDB
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

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