Summary

Gene Name	AP4S1
Specie	Homo sapiens
Full Name	adaptor related protein complex 4 subunit sigma 1
Also known as	AP47B|CLA20|CLAPS4|CPSQ6|SPG52
Coordinate	chr14:31025106-31096450
Strand	+
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]

Retrocopy(s) from AP4S1

Retroname	Coord	Strand	Genomic Region	ENSG
AP4S1P1	chr6:89059409-89063108	+	Intergenic	ENSG00000220960	UCSC

Expression

Transcript Sequences

>NM_001128126.3

ACTAAAAGCCAAAATGGCTGCCCCGAGGAGGCCCGCACCGCGTAGCCAGTGAAGGTTGGGGAGCAAGCTTATGCGGGAAAGAGGGAGGGGGACTCCAGGAAAAGCCGTTGAGAGGACCATCACAACCTGAGCAGCACAGGTTCCAGTTACAGCCATCCCTTGTCATAACTTTTGAACTGTATTTGGAAAAATACTGGCCAGGAAAGAAAAATGATAAAATTTTTCCTCATGGTGAATAAACAAGGGCAGACTCGACTTTCTAAGTACTATGAACATGTGGATATTAATAAGCGTACACTTCTGGAAACAGAAGTCATAAAGAGCTGTCTCTCTCGATCCAATGAACAATGCTCTTTCATTGAATATAAGGATTTTAAGCTGATATATCGGCAGTATGCAGCTCTCTTCATTGTGGTTGGAGTTAATGACACTGAGAACGAGATGGCTATTTATGAATTCATTCATAACTTTGTGGAAGTTTTAGATGAGTATTTCAGCCGAGTGAGTGAATTAGATATAATGTTTAATTTGGATAAAGTACACATCATTTTGGATGAGATGGTGTTAAATGGCTGCATTGTGGAAACTAACAGGGCAAGAATTCTTGCCCCTCTACTAATTCTTGATAAGATGTCAGAAAGCTGAAAGGAAGTCTCTTCGAGACAATATGGATTTATCAGAAATGCGAGTACCGTGGAATACATCTCAACATGTTAACCCAGAAGAATCTGGAAGACCACAATTACAAAATGGGGTATCCTTCCAAAGACATTATAAATAGGCATTTTCCACAGTTCCTAAAAAGAAAACACAACTGTACTTTAAAATATGTACAAAGAAAAAAATTTCTTTAAACTGAGAGAGAAGTTTTATTTTCTAATTGTAAACATATCTGTCGCACTTTAAATTCTGTTGAGCACCTAAGGAACCCTTCTTGGTCTATGCTTCTTTTGCAAATTGAATTCAGGAATAGCAGGATGGTAGTGGGAAGAAAGTATGGCAGTTTTCCGTCAGCCAATAAAGTTTTAAAATTTAAACACAAGGCATTTTGAGTAACGCTGTTTTCTGAAAGCTAtttttttttttttgagacggagtctagtctagctgtgtcacctggcacattctcggctcactgcaacctccacttccggggttcaagcgattctcctgcctcagcctccgagctgggactacaggcatgcaccaccacacctggctaatttttgtatttttagtagagacagggtttcaccatgttggccaggctgtctcaaactcctgacctcaggtgatctgcctgcctcagcctcccagaacgctgggattacagatgagccacagtgcctgacTTCTGAAGGCTGTCTTATTCCTTTAAAAGGCTTAGTAAAATTAACTTTTTAAGAGGtgtttttttgtttgtttttttgttttgttttttaagacggagtcttgctctgtcacccaagctggagtgcagtggtgtgatctcagctcactgcaacctccacctctgggtttaagcaattctcctgcctcagcctcctgagtagctgcgactacaggcatgtagtccccaggagactgagctgtgattacagatgtgagccaccatgccctgcccggttttatgtaaagcccagctaatttttgtatttttagtagagatagggtttcaccatgttggccaggctgttcttgaactcctgacctcaagtgatccacctgcttcagcctcccaaagtgctgggattacaagcatgagccaccatgcccagccAAGAGGTGttttttgtttgtttgtttttaagagaagcaggtcttgctgtgttgtccaggctggactgcagtggcttttcacaagcatgatcATGTTGTACTACAACCTTGAACCTTCCTGGCCTGGCTCTAAAAGCTTTGTAATGTGGGGCTggtgcagtgcctcacacctgtaacccctgcactttgggaggctgaggaaggaggatcgcttgaggccagaaattcaagaccagcctgggcaacatagacctcatctctacaaaaaatgcaaaaatcagccgggtgtggtggcacatacctgtagtctcaactactcgggagtctgaggcagaagatttcttgagcccaggagttcgagtctgcagtgagctatgatcgtgtcactgcactccagcctgggtgacagagtgaaaccctgtctcaaaaataaaaaaGTccgagtgcggtggctcaggcctgtaatcccaacattttggggggccaagccaggaggattggttgagcccattagttcaagaccagcctgggcaacacagcaagaccatatctctacaaaaaataaataggtgtgatggctcatgcctgtaatcctagtactttgggaggccgaggcaggcagatcacttgaggtcaggagtttgaaaccagcctggccaacatggcaaaaccttgtctctactaaaaatacaaaaagttagccaggcatggtggcaagcacctctaatctcagctactcaggaggctgaggcagtagaattgcttgaacccgggaggcagaggttgcagtgagccgagatcatgccactgcactccagcctgggcgacagagtgagaccctgtctctaaaaataagtaaataactaattaaaaagttagccagctgtggtggtgagcacctgtactcctaactactcaagaggctgagatgggagaattgatcaagcctaggagtttgaggctgcagtgaactatgatcacaacactgtactccaacctgggtaatggagtgaggccctgcctcaaaaacacaaaaacaaaacaaaaaaaCTTTTATAACATGTACCTAACAAAGATGCAGAGTTAAATTTTATTTGCCAGTTTGTAAAAGCCTTTGATACTCATTTTAAGGGCACTTAGTAATTACAATGCCATTATGTAATTAACTCTATAGAGAACATTACTTTCAAATAATGGATGGTCAGACATTAAGACAGCCCCAGAGAGCCCCTACAGCTATCCTTTATCCCGttttttgtttgttttttggagacagcatctccgtctcctaggctggagtgcagtggtgtgatcatgcctcactacagcctgtacctcctgggctcaggtgctcctcccacctcagcctcctgagtaactgggaccacaggtgcgcaccccctccacccagctaatttttgtattttgttgtagagatagggtttcactatgttgcccagactggtctcgaattcctgcagtcacatgatccatctgccttcgccttccaaagtgttgggattacaggcctgagccactgtgcccagtcTTTTTATGCCACATTTTAAAAGGTTTGCTTATTAATAAGCTTACTGTTAATGAAATTTAGTTCAAAGTTTAAAAGTAGAATGCAgccaggcatggtggcttacgcctataatcccagcactttgggacgccaaggtgggtagatcatttgaggtcaggagttcaagaccagcttggccaacatggtgagaccctgtctctactaaaactacgaaaaattagccgggcatggtggcacgcgcctataatcccaactacttgggaggctgtggtaggaggatcacttgaacccaggagacagaggttgcagtgagttgagatcgagattgtgccactgcactccagcctgggcacagagtgagattccgtctcaaaaaaaaaaaaaaaaaaaaaaGTAGAAAGCAAGAAAGTGTCTCTGTACAGGTAGGCATGAAATGAATCCTTCTCTTCCTCCCCTTTACTCCTTTAACCCCTTCTCCTGCAATGTCTTGAAGTAAATTACTGTCATTACAGAAGAGCAATGCACTGCATCCCCCCAAAACCTTTCTATATGCTTTTGCTACCCCGTTAACAGAAGAATATACAGAACTGTCTTAGGCGAAAGTATGTAcagtagtccctctcttatccactgtttcgcattctgtggtttgtgttactcatggtcaactgaggtcccaaaatattaaacagaaaattccagaaataaacaatgtataagttttaaactgca