KEGG   Homo sapiens (human): 23431Help
Entry
23431             CDS       T01001                                 

Gene name
AP4E1, CPSQ4, SPG51, STUT1
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Adaptin_N AP4E_app_platf Coatomer_b_Cpla Cnd1 Coatamer_beta_C
Motif
Other DBs
NCBI-GeneID: 23431
NCBI-ProteinID: NP_031373
OMIM: 607244
HGNC: 573
Ensembl: ENSG00000081014
Vega: OTTHUMG00000172458
Pharos: Q9UPM8(Tdark)
UniProt: Q9UPM8 B4DM48
Position
15q21.2
AA seq 1137 aa AA seqDB search
MSDIVEKTLTALPGLFLQNQPGGGPAAAKASFSSRLGSLVRGITALTSKHEEEKLIQQEL
SSLKATVSAPTTTLKMMKECMVRLIYCEMLGYDASFGYIHAIKLAQQGNLLEKRVGYLAV
SLFLHESHELLLLLVNTVVKDLQSTNLVEVCMALTVVSQIFPCEMIPAVLPLIEDKLQHS
KEIVRRKAVLALYKFHLIAPNQVQHIHIKFRKALCDRDVGVMAASLHIYLRMIKENSSGY
KDLTGSFVTILKQVVGGKLPVEFNYHSVPAPWLQIQLLRILGLLGKDDQRTSELMYDVLD
ESLRRAELNHNVTYAILFECVHTVYSIYPKSELLEKAAKCIGKFVLSPKINLKYLGLKAL
TYVIQQDPTLALQHQMTIIECLDHPDPIIKRETLELLYRITNAQNITVIVQKMLEYLHQS
KEEYVIVNLVGKIAELAEKYAPDNAWFIQTMNAVFSVGGDVMHPDIPNNFLRLLAEGFDD
ETEDQQLRLYAVQSYLTLLDMENVFYPQRFLQVMSWVLGEYSYLLDKETPEEVIAKLYKL
LMNDSVSSETKAWLIAAVTKLTSQAHSSNTVERLIHEFTISLDTCMRQHAFELKHLHENV
ELMKSLLPVDRSCEDLVVDASLSFLDGFVAEGLSQGAAPYKPPHQRQEEKLSQEKVLNFE
PYGLSFSSSGFTGRQSPAGISLGSDVSGNSAETGLKETNSLKLEGIKKLWGKEGYLPKKE
SKTGDESGALPVPQESIMENVDQAITKKDQSQVLTQSKEEKEKQLLASSLFVGLGSESTI
NLLGKADTVSHKFRRKSKVKEAKSGETTSTHNMTCSSFSSLSNVAYEDDYYSNTLHDTGD
KELKKFSLTSELLDSESLTELPLVEKFSYCSLSTPSLFANNNMEIFHPPQSTAASVAKES
SLASSFLEETTEYIHSNAMEVCNNETISVSSYKIWKDDCLLMVWSVTNKSGLELKSADLE
IFPAENFKVTEQPGCCLPVMEAESTKSFQYSVQIEKPFTEGNLTGFISYHMMDTHSAQLE
FSVNLSLLDFIRPLKISSDDFGKLWLSFANDVKQNVKMSESQAALPSALKTLQQKLRLHI
IEIIGNEGLLACQLLPSIPCLLHCRVHADVLALWFRSSCSTLPDYLLYQCQKVMEGS
NT seq 3414 nt NT seq  +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

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