InnateDB Protein
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IDBP-590913.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AP4S1
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Protein Name
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adaptor-related protein complex 4, sigma 1 subunit
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Synonyms
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AP47B; CLA20; CLAPS4; CPSQ6; SPG52;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000438170
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InnateDB Gene
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IDBG-4336 (AP4S1)
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Protein Structure
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Function |
Subunit of novel type of clathrin- or non-clathrin- associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.
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Subcellular Localization |
Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.
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Disease Associations |
Cerebral palsy, spastic quadriplegic 6 (CPSQ6) [MIM:614067]: A neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. {ECO:0000269PubMed:21620353}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
7
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR011012
Longin-like domain
IPR016635
Adaptor protein complex, sigma subunit
IPR022775
AP complex, mu/sigma subunit
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PFAM |
PF01217
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PRINTS |
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PIRSF |
PIRSF015588
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y587
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PhosphoSite |
PhosphoSite-Q9Y587
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TrEMBL |
G3V4P7
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UniProt Splice Variant |
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Entrez Gene |
11154
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UniGene |
Hs.736977
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RefSeq |
NP_001121598
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HUGO |
HGNC:575
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OMIM |
607243
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CCDS |
CCDS45093
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HPRD |
06257
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IMGT |
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EMBL |
AB030654
AF155159
AK304115
AL049830
AL121808
BC001259
BT006701
BX247969
BX388185
CH471078
CR457100
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GenPept |
AAD43329
AAH01259
AAP35347
BAA82970
BAG65016
CAD62307
CAG33381
EAW65953
EAW65954
EAW65955
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