| Entry |
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| Gene name |
AP2S1, AP17, CLAPS2, FBH3, FBHOk, HHC3
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| Definition |
(RefSeq) adaptor related protein complex 2 sigma 1 subunit
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| KO |
| 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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| Disease |
| Familial hypocalciuric hypercalcemia |
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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)
Membrane trafficking [BR:hsa04131]
Endocytosis
Clathrin-mediated endocytosis
AP-2 complex
1175 (AP2S1)
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GeneID: NCBI-ProteinID: OMIM: HGNC: Ensembl: Vega: Pharos: UniProt: |
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| Position |
19q13.32
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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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