KEGG   Homo sapiens (human): 1175
Entry
1175              CDS       T01001                                 
Symbol
AP2S1, AP17, CLAPS2, FBH3, FBHOk, HHC3
Name
(RefSeq) adaptor related protein complex 2 subunit sigma 1
  KO
K11827  AP-2 complex subunit sigma-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
hsa04721  Synaptic vesicle cycle
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa05016  Huntington disease
Disease
H02026  Familial hypocalciuric hypercalcemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    1175 (AP2S1)
 09150 Organismal Systems
  09155 Excretory system
   04961 Endocrine and other factor-regulated calcium reabsorption
    1175 (AP2S1)
  09156 Nervous system
   04721 Synaptic vesicle cycle
    1175 (AP2S1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    1175 (AP2S1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1175 (AP2S1)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   AP-2 complex
    1175 (AP2S1)
SSDB
Motif
Pfam: Clat_adaptor_s LPD5 TtuA_LIM_N
Other DBs
NCBI-GeneID: 1175
NCBI-ProteinID: NP_004060
OMIM: 602242
HGNC: 565
Ensembl: ENSG00000042753
UniProt: P53680
Structure
LinkDB
Position
19:complement(46838167..46850846)
AA seq 142 aa
MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYR
RYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLA
GEIRETSQTKVLKQLLMLQSLE
NT seq 429 nt   +upstreamnt  +downstreamnt
atgatccgctttatcctcatccagaaccgggcaggcaagacgcgcctggccaagtggtac
atgcagtttgatgatgatgagaaacagaagctgatcgaggaggtgcatgccgtggtcacc
gtccgagacgccaaacacaccaactttgtggagttccggaactttaagatcatttaccgc
cgctatgctggcctctacttctgcatctgtgtggatgtcaatgacaacaacctggcttac
ctggaggccattcacaacttcgtggaggtcttaaacgaatatttccacaatgtctgtgaa
ctggacctggtgttcaacttctacaaggtttacacggtcgtggacgagatgttcctggct
ggcgaaatccgagagaccagccagacgaaggtgctgaaacagctgctgatgctacagtcc
ctggagtga

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