| Entry |
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| Gene name |
AP2S1, AP17, AP17-DELTA, CLAPS2, FBH3, FBHOk, HHC3
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| Definition |
adaptor-related protein complex 2, sigma 1 subunit
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| Orthology |
| AP-2 complex subunit sigma-1 |
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| Organism |
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| Pathway |
| Endocytosis | | Synaptic vesicle cycle | | Endocrine and other factor-regulated calcium reabsorption | | Huntington's disease |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
Cellular Processes
Transport and catabolism
04144 Endocytosis
1175 (AP2S1)
Organismal Systems
Excretory system
04961 Endocrine and other factor-regulated calcium reabsorption
1175 (AP2S1)
Nervous system
04721 Synaptic vesicle cycle
1175 (AP2S1)
Human Diseases
Neurodegenerative diseases
05016 Huntington's disease
1175 (AP2S1)
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
19q13.2-q13.3
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| AA seq |
142 aa  
MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYR
RYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLA
GEIRETSQTKVLKQLLMLQSLE |
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| NT seq |
429 nt  +upstreamnt +downstreamnt
atgatccgctttatcctcatccagaaccgggcaggcaagacgcgcctggccaagtggtac
atgcagtttgatgatgatgagaaacagaagctgatcgaggaggtgcatgccgtggtcacc
gtccgagacgccaaacacaccaactttgtggagttccggaactttaagatcatttaccgc
cgctatgctggcctctacttctgcatctgtgtggatgtcaatgacaacaacctggcttac
ctggaggccattcacaacttcgtggaggtcttaaacgaatatttccacaatgtctgtgaa
ctggacctggtgttcaacttctacaaggtttacacggtcgtggacgagatgttcctggct
ggcgaaatccgagagaccagccagacgaaggtgctgaaacagctgctgatgctacagtcc
ctggagtga |
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