Version 5.4
| Homo sapiens Gene: AP4S1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-4336.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | AP4S1 | ||||||||||||||||||
| Gene Name | adaptor-related protein complex 4, sigma 1 subunit | ||||||||||||||||||
| Synonyms | AP47B; CLA20; CLAPS4; CPSQ6; SPG52 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000100478 | ||||||||||||||||||
| Encoded Proteins |
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
adaptor-related protein complex 4, sigma 1 subunit
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 14:31025106-31096450 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q12 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME | |||||||||||||||||||
| KEGG |
Lysosome pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | G3V4P7 G3V5J6 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 11154 | ||||||||||||||||||
| UniGene | Hs.679466 Hs.736977 | ||||||||||||||||||
| RefSeq | NM_001128126 NM_001254726 NM_001254727 NM_001254728 NM_001254729 NM_007077 XM_005267293 | ||||||||||||||||||
| HUGO | HGNC:575 | ||||||||||||||||||
| OMIM | 607243 | ||||||||||||||||||
| CCDS | CCDS45093 CCDS58309 CCDS58310 CCDS9642 | ||||||||||||||||||
| HPRD | 06257 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AL049830 AL121808 CH471078 | ||||||||||||||||||
| GenPept | EAW65958 | ||||||||||||||||||
| RNA Seq Atlas | 11154 | ||||||||||||||||||