KEGG   Homo sapiens (human): 10717
Entry
10717             CDS       T01001                                 
Symbol
AP4B1, BETA-4, CPSQ5, SPG47
Name
(RefSeq) adaptor related protein complex 4 subunit beta 1
  KO
K12401  AP-4 complex subunit beta-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    10717 (AP4B1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    10717 (AP4B1)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Others
   AP-4 complex
    10717 (AP4B1)
SSDB
Motif
Pfam: Adaptin_N Cnd1 B2-adapt-app_C HEAT HEAT_2 PDS5 Hda_lid
Other DBs
NCBI-GeneID: 10717
NCBI-ProteinID: NP_001240781
OMIM: 607245
HGNC: 572
Ensembl: ENSG00000134262
UniProt: Q9Y6B7
Structure
LinkDB
Position
1:complement(113894194..113905028)
AA seq 739 aa
MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATV
DIVQKKLVYLYMCTYAPLKPDLALLAINTLCKDCSDPNPMVRGLALRSMCSLRMPGVQEY
IQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGALVNELYSLLRDQDPIVVVNCL
RSLEEILKQEGGVVINKPIAHHLLNRMSKLDQWGQAEVLNFLLRYQPRSEEELFDILNLL
DSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGPLLAACSSESRELCFVALCHV
RQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLEELRGYCTDVS
ADFAQAAIFAIGGIARTYTDQCVQILTELLGLRQEHITTVVVQTFRDLVWLCPQCTEAVC
QALPGCEENIQDSEGKQALIWLLGVHGERIPNAPYVLEDFVENVKSETFPAVKMELLTAL
LRLFLSRPAECQDMLGRLLYYCIEEEKDMAVRDRGLFYYRLLLVGIDEVKRILCSPKSDP
TLGLLEDPAERPVNSWASDFNTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPL
IPEENKERVQELPDSGALMLVPNRQLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMA
LQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLLEPGNSEMQISVKQNEARTETL
NSFISVLETVIGTIEEIKS
NT seq 2220 nt   +upstreamnt  +downstreamnt
atgccgtaccttggctccgaggacgtggtgaaggagctgaagaaggctctgtgcaatcct
cacattcaagctgataggctgcgctaccggaatgtcatccagcgagtgattaggtacatg
actcaaggcttggacatgtctggtgtttttatggaaatggtgaaggccagtgccactgta
gatattgtccagaagaagttggtttatctgtacatgtgcacatatgctcccctgaaacca
gatctggctctcctggccatcaatacgctgtgcaaagactgctcagaccccaatccaatg
gtgcgagggctggcgttacggagcatgtgtagcctcaggatgcctggtgtgcaggagtat
atacaacagcctattctcaatggtctgcgggataaggcttcatatgtcaggagagtggca
gtccttggatgtgccaagatgcataatcttcatggagactctgaagtagatggtgccctg
gtaaatgaattatacagtttgctgcgtgaccaggatccaattgtagttgtgaactgcttg
aggtctctagaggaaattctgaaacaggaaggaggcgttgtcatcaataagcccattgct
caccatctcttaaatcgaatgtcaaaactggaccaatggggccaggctgaagtattgaac
tttctgctacgctaccaaccccgcagtgaggaagaactatttgacattctcaatctgttg
gatagtttcctcaagagcagtagcccaggtgtggtgatgggagctaccaaactttttctg
atcttggcaaaaatgtttccccacgtacaaactgatgtccttgtgcgggtcaagggacct
ttgctagctgcctgttcttcagagagccgtgagctctgttttgttgctctttgtcatgta
cgccagatcttgcatagtttaccaggtcactttagcagccactacaaaaagtttttttgc
tcctactcggagccccactacatcaaactacagaaagtggaggtgctgtgtgaactggtg
aacgatgagaatgtgcagcaggtgctagaggagcttcgagggtactgcacggatgtgtct
gcggactttgcacaggctgccatctttgccataggtggcattgccaggacttacacagat
caatgtgttcagattttaacagagttgctgggtcttcgacaagagcacattaccacagtg
gtggtgcagactttccgagacctggtttggttgtgtcctcagtgtactgaagctgtatgt
caggccctgcccggctgtgaagagaacattcaagatagtgaggggaagcaagcacttatt
tggctacttggtgtccatggggaaagaattcctaatgctccttatgtgttagaggacttt
gttgagaatgtgaagtcggaaacatttccagctgttaagatggagctgctcactgctttg
ctgcgccttttcctctcccgacctgctgagtgccaggacatgctaggacgtttgttgtat
tactgcatagaggaagaaaaagatatggctgtacgggaccgaggtctcttctattatcgc
ctcctcttagttggcattgatgaagttaagcggattctgtgtagccctaaatctgaccct
actcttggacttttggaggatccggcagaaagacctgtgaatagctgggcctcagacttc
aacacactggtgccagtgtatggcaaagcccactgggcaactatctctaaatgccagggg
gcagagcgttgtgacccagagcttcctaaaacttcatcctttgccgcatcaggacccttg
attcctgaagagaacaaggagagggtacaagaactccctgattctggagccctcatgcta
gtccccaatcgccagcttactgctgattattttgagaaaacttggcttagccttaaagtt
gctcatcagcaagtgttgccttggcggggagaattccatcctgacaccctccagatggct
cttcaagtagtgaacatccagaccatcgcaatgagtagggctgggtctcggccatggaaa
gcatacctcagtgctcaggatgatactggctgtctgttcttaacagaactgctattggag
cctggaaactcagaaatgcagatctctgtgaaacaaaatgaagcaagaacggagacgctg
aatagttttatttctgtattagaaactgtgattggaacaattgaagaaataaaatcataa

KEGG   Homo sapiens (human): 11154
Entry
11154             CDS       T01001                                 
Symbol
AP4S1, AP47B, CLA20, CLAPS4, CPSQ6, SPG52
Name
(RefSeq) adaptor related protein complex 4 subunit sigma 1
  KO
K12403  AP-4 complex subunit sigma-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    11154 (AP4S1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    11154 (AP4S1)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Others
   AP-4 complex
    11154 (AP4S1)
SSDB
Motif
Pfam: Clat_adaptor_s HOCHOB
Other DBs
NCBI-GeneID: 11154
NCBI-ProteinID: NP_001121598
OMIM: 607243
HGNC: 575
Ensembl: ENSG00000100478
UniProt: Q9Y587
LinkDB
Position
14:31025106..31096450
AA seq 144 aa
MIKFFLMVNKQGQTRLSKYYEHVDINKRTLLETEVIKSCLSRSNEQCSFIEYKDFKLIYR
QYAALFIVVGVNDTENEMAIYEFIHNFVEVLDEYFSRVSELDIMFNLDKVHIILDEMVLN
GCIVETNRARILAPLLILDKMSES
NT seq 435 nt   +upstreamnt  +downstreamnt
atgataaaatttttcctcatggtgaataaacaagggcagactcgactttctaagtactat
gaacatgtggatattaataagcgtacacttctggaaacagaagtcataaagagctgtctc
tctcgatccaatgaacaatgctctttcattgaatataaggattttaagctgatatatcgg
cagtatgcagctctcttcattgtggttggagttaatgacactgagaacgagatggctatt
tatgaattcattcataactttgtggaagttttagatgagtatttcagccgagtgagtgaa
ttagatataatgtttaatttggataaagtacacatcattttggatgagatggtgttaaat
ggctgcattgtggaaactaacagggcaagaattcttgcccctctactaattcttgataag
atgtcagaaagctga

KEGG   Homo sapiens (human): 23431
Entry
23431             CDS       T01001                                 
Symbol
AP4E1, CPSQ4, SPG51, STUT1
Name
(RefSeq) adaptor related protein complex 4 subunit epsilon 1
  KO
K12400  AP-4 complex subunit epsilon-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    23431 (AP4E1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23431 (AP4E1)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Others
   AP-4 complex
    23431 (AP4E1)
SSDB
Motif
Pfam: Adaptin_N AP4E_app_platf Coatomer_b_Cpla Cnd1 INTS1_R4
Other DBs
NCBI-GeneID: 23431
NCBI-ProteinID: NP_031373
OMIM: 607244
HGNC: 573
Ensembl: ENSG00000081014
UniProt: Q9UPM8 B4DM48
LinkDB
Position
15:50907492..51005895
AA seq 1137 aa
MSDIVEKTLTALPGLFLQNQPGGGPAAAKASFSSRLGSLVRGITALTSKHEEEKLIQQEL
SSLKATVSAPTTTLKMMKECMVRLIYCEMLGYDASFGYIHAIKLAQQGNLLEKRVGYLAV
SLFLHESHELLLLLVNTVVKDLQSTNLVEVCMALTVVSQIFPCEMIPAVLPLIEDKLQHS
KEIVRRKAVLALYKFHLIAPNQVQHIHIKFRKALCDRDVGVMAASLHIYLRMIKENSSGY
KDLTGSFVTILKQVVGGKLPVEFNYHSVPAPWLQIQLLRILGLLGKDDQRTSELMYDVLD
ESLRRAELNHNVTYAILFECVHTVYSIYPKSELLEKAAKCIGKFVLSPKINLKYLGLKAL
TYVIQQDPTLALQHQMTIIECLDHPDPIIKRETLELLYRITNAQNITVIVQKMLEYLHQS
KEEYVIVNLVGKIAELAEKYAPDNAWFIQTMNAVFSVGGDVMHPDIPNNFLRLLAEGFDD
ETEDQQLRLYAVQSYLTLLDMENVFYPQRFLQVMSWVLGEYSYLLDKETPEEVIAKLYKL
LMNDSVSSETKAWLIAAVTKLTSQAHSSNTVERLIHEFTISLDTCMRQHAFELKHLHENV
ELMKSLLPVDRSCEDLVVDASLSFLDGFVAEGLSQGAAPYKPPHQRQEEKLSQEKVLNFE
PYGLSFSSSGFTGRQSPAGISLGSDVSGNSAETGLKETNSLKLEGIKKLWGKEGYLPKKE
SKTGDESGALPVPQESIMENVDQAITKKDQSQVLTQSKEEKEKQLLASSLFVGLGSESTI
NLLGKADTVSHKFRRKSKVKEAKSGETTSTHNMTCSSFSSLSNVAYEDDYYSNTLHDTGD
KELKKFSLTSELLDSESLTELPLVEKFSYCSLSTPSLFANNNMEIFHPPQSTAASVAKES
SLASSFLEETTEYIHSNAMEVCNNETISVSSYKIWKDDCLLMVWSVTNKSGLELKSADLE
IFPAENFKVTEQPGCCLPVMEAESTKSFQYSVQIEKPFTEGNLTGFISYHMMDTHSAQLE
FSVNLSLLDFIRPLKISSDDFGKLWLSFANDVKQNVKMSESQAALPSALKTLQQKLRLHI
IEIIGNEGLLACQLLPSIPCLLHCRVHADVLALWFRSSCSTLPDYLLYQCQKVMEGS
NT seq 3414 nt   +upstreamnt  +downstreamnt
atgagcgacatagtggagaagacgctgacggcgctgccgggactctttctgcagaaccag
cccggtggtgggcccgcggccgccaaggcgtccttctcctcgaggctgggcagccttgtc
cgcggcatcacagccctcacctccaagcacgaagaagaaaaattaatccagcaggaactg
agtagtctgaaagcgactgtttctgctcctactacaacactgaaaatgatgaaggaatgt
atggtgagacttatatattgtgaaatgcttggatatgatgcttcctttggctatattcat
gcaatcaagttagcccaacaaggaaacctcttagaaaaaagagtaggttatttggctgtt
tccttatttctacatgaaagtcatgaattattgcttctccttgtgaatacagttgtaaag
gatctgcagagcactaacctagtagaagtgtgtatggcactgactgttgttagccagatt
ttcccctgcgaaatgattccagctgttcttccattaatagaagataaacttcaacattct
aaggagattgtacgaagaaaagctgttctggcattatacaaattccatctcattgctcct
aatcaagtacaacatattcatattaagtttcggaaagcactttgtgacagagatgttggg
gtcatggctgcctccttgcatatatatcttagaatgattaaggagaattcatctggatat
aaagacttgactgggagttttgtaaccattttgaagcaagtagttggaggaaagctccca
gtagaattcaattaccacagtgtgccagcaccatggttacaaattcagctcttgagaata
ctgggacttctaggaaaagatgatcaaaggacaagtgaattaatgtatgatgttcttgat
gaatccttacgaagagctgagttaaatcacaatgtcacatatgctattttgtttgaatgt
gtgcatacagtctattctatttatcctaaatcggaattacttgagaaggctgccaagtgc
attggaaaatttgttctgtcacctaaaataaatctaaaatatttaggactgaaggctctt
acctatgttatccaacaggatcctactctggctcttcaacaccagatgacaataattgaa
tgtttagatcatcctgatcccattattaaaagagagactctggaacttctttacagaatt
actaatgcacagaatataacagttattgtccagaaaatgcttgaatatttacatcagagc
aaagaagagtatgtcatcgtcaatttggtcggcaaaatagcagagctggctgagaaatat
gctcctgataatgcatggtttattcagacaatgaatgctgtgttttcagtaggaggagat
gtaatgcatcctgatattcccaataactttctgagactactagcggaaggttttgatgat
gaaacagaagatcagcaattaagactctatgcagttcagtcttatctcactttactggat
atggaaaatgtgttctatccacagagatttcttcaagttatgagttgggtattaggggaa
tattcctacctcttagataaggaaacgccagaggaagttatagctaagctctacaagtta
cttatgaatgactctgtgtcttcagaaacaaaagcctggttaattgctgctgtgaccaaa
ttgacatctcaggcgcactcttctaatacagttgagagattaatccatgaatttaccata
tctttggatacttgtatgagacaacatgcatttgaattaaaacatttgcatgagaatgtg
gaacttatgaagagcttgcttccagttgacaggagttgtgaagacttggtggtagatgct
tctttatcttttctggatggttttgtggctgaaggactcagtcagggtgcagcgccttac
aaacctccccatcaacgccaggaggaaaagctttctcaggaaaaagttctcaattttgaa
ccatatggactctccttttcttcatctggcttcactggacgacagtctcctgctggcatt
tctcttggttcagatgtatctgggaatagtgctgagacaggactgaaagagacaaatagc
ttgaagctggaaggtataaagaaattgtgggggaaagaaggctatcttcccaagaaggaa
agcaaaactggtgatgaaagtggagctctgcctgttcctcaagagagtataatggagaat
gtagatcaagctataactaaaaaggatcaatctcaagttcttacccaatctaaagaggag
aaagaaaagcagctgctggcatcatcattatttgttggtctaggatcagaaagtacaatc
aacctgctgggaaaagcagatactgtctctcacaagttcagaaggaaatcaaaagtcaaa
gaagctaaaagtggcgaaacaaccagtactcataatatgacctgttcttcctttagttct
ttgtcaaatgtggcatatgaagatgattattattcgaatactttgcacgatacaggagac
aaggaattaaagaaattttctctcacttcagaacttttggattctgagtcactcacagaa
ctgcccttggttgagaaattctcatattgtagtctgtctacaccttcattgtttgctaat
aacaacatggaaatttttcaccctcctcaatctactgcagcctcagttgccaaggaaagc
tctttagcttcatcttttttggaagaaactactgaatacatacactcaaatgctatggaa
gtctgtaataatgaaactatatcagtgtcttcttataaaatttggaaagatgattgttta
ttgatggtctggtcagtcactaataagagtggtttggaattgaaaagtgctgacttagaa
atttttcctgcagaaaatttcaaggtgactgagcaacctggatgctgtttgcctgtaatg
gaagcagaaagcaccaaaagctttcaatatagtgtgcagatagaaaaaccttttacagaa
ggaaatcttactggttttattagttatcatatgatggatactcattctgctcagctggaa
ttttctgtaaacttatcactattagatttcattagaccattaaaaatctcaagtgacgac
tttgggaaactctggttatccttcgcaaatgatgtgaaacaaaatgtaaaaatgtcagaa
tctcaagctgcacttccttctgcactaaagactctgcaacagaaactaagactccatatt
attgagattataggcaatgaagggctattggcctgtcagctgctcccatccatcccctgc
ttactgcattgccgagttcatgcagatgtattagccctgtggttcagatcctcctgttct
actcttcctgactatttactgtatcagtgtcaaaaggtgatggagggatcctag

KEGG   Homo sapiens (human): 9179
Entry
9179              CDS       T01001                                 
Symbol
AP4M1, CPSQ3, MU-4, MU-ARP2, SPG50
Name
(RefSeq) adaptor related protein complex 4 subunit mu 1
  KO
K12402  AP-4 complex subunit mu-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    9179 (AP4M1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    9179 (AP4M1)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Others
   AP-4 complex
    9179 (AP4M1)
SSDB
Motif
Pfam: Adap_comp_sub Clat_adaptor_s
Other DBs
NCBI-GeneID: 9179
NCBI-ProteinID: NP_004713
OMIM: 602296
HGNC: 574
Ensembl: ENSG00000221838
UniProt: O00189
Structure
LinkDB
Position
7:100100794..100109039
AA seq 453 aa
MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIR
HSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYG
YVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSD
QSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSE
LRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFP
SVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGA
LRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQ
VRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI
NT seq 1362 nt   +upstreamnt  +downstreamnt
atgatttcccaattcttcattctgtcctccaagggggacccgctcatctacaaagacttc
cgcggggacagtggcggccgggatgtggccgagctcttctaccggaagctgacgggactg
ccaggagacgagtccccggttgtcatgcatcaccatggccgtcatttcattcacatcaga
cacagcggcctctatttggtggtcacaacttcagaaaacgtttctcccttcagcctccta
gaactgctctccaggttggccacccttctgggcgattactgtggctccctgggcgagggg
accatctcccgcaatgtggctctggtatacgaactcctggatgaagtgctggactatggc
tatgtacagaccacatccacggagatgctgaggaatttcatccagacggaagctgtggtc
agcaagcccttcagcctctttgacctcagcagcgttggcttgtttggggctgagacacaa
cagagcaaagtggcccccagcagtgcagccagccgccccgtcctgtccagtcgctctgac
cagagccaaaagaatgaagtttttttggatgtggtcgagagattgtctgtactgatagca
tctaatggatccctgctgaaggtggatgtgcagggagagattcggctcaagagcttcctt
cctagcggctctgagatgcgcattggcttgacggaagagttttgtgtggggaagtcagag
ctgagaggttatgggccaggaatccgggtcgatgaagtctcgtttcacagctctgtgaat
ctggacgaatttgagtctcatcgaatcctccgcttgcaaccacctcagggcgagctgact
gtgatgcggtaccaactctccgatgacctcccctcaccgctccccttccggctcttcccc
tctgtgcagtgggaccgaggctcaggccggctccaggtttatctaaagttgcgatgtgac
ctgctctcaaagagccaagccctcaatgtcaggctgcacctccccctgcctcgaggggtg
gtcagcctgtctcaggagctgagcagcccagagcagaaggctgagctggcagagggagcc
cttcgctgggacctgcctcgggtgcaaggaggctctcaactctcaggccttttccagatg
gacgtcccagggcccccaggacctcccagccatgggctctccacctcggcctctcctctg
gggctgggccctgccagtctctccttcgagcttccccggcacacgtgctctggcctccag
gtccgattcctcaggctggccttcaggccatgcggcaatgccaacccccacaagtgggtg
cgacacctaagccacagcgacgcctatgtcattcggatctga

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