KEGG   Homo sapiens (human): 10717
Entry
10717             CDS       T01001                                 
Symbol
AP4B1, BETA-4, CPSQ5, SPG47
Name
(RefSeq) AP-4 complex subunit beta-1 isoform 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 Hda_lid
Other DBs
NCBI-GeneID: 10717
NCBI-ProteinID: NP_001240781
OMIM: 607245
HGNC: 572
Ensembl: ENSP00000358582.1
UniProt: Q9Y6B7
Structure
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (13)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (22)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (20)   
DNA sequence (56)   
   RefSeq(nuc) (22)   
   GenBank (17)   
   EMBL (17)   
3D Structure (1)   
   PDB (1)   
Protein domain (6)   
   Pfam (6)   
All databases (100)   

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