AP1S3
adaptor related protein complex 1 subunit sigma 3
Summary
This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs555805533 | 2:224,617,562 | T/C | — | likely benign |
| rs947846884 | 2:224,630,022 | T/G | — | uncertain significance |
| rs16865186 | 2:224,637,967 | A/G | — | benign |
| rs998508971 | 2:224,640,642 | C/T | — | likely benign |
| rs202157374 | 2:224,640,661 | A/G | — | likely benign |
| rs200314987 | 2:224,640,669 | C/T | — | likely benign |
| rs34353588 | 2:224,640,674 | A/C | — | benign |
| rs756177532 | 2:224,640,719 | T/C | — | uncertain significance |
| rs11902103 | 2:224,640,863 | C/T | — | benign |
| rs55944411 | 2:224,640,896 | T/C | — | benign |
| rs138292988 | 2:224,642,493 | A/G | — | likely benign |
| rs78536455 | 2:224,642,495 | G/A | — | likely benign |
| rs149183052 | 2:224,642,526 | T/C | — | likely benign |
| rs1372202707 | 2:224,642,562 | G/A | — | uncertain significance |
| rs116107386 | 2:224,642,579 | C/A | — | likely benign |
| rs7568456 | 2:224,665,358 | T/A | intron variant | — |
| rs13383994 | 2:224,667,692 | G/A | intron variant | — |
| rs7600912 | 2:224,679,265 | T/C | intron variant | — |
| rs62185132 | 2:224,683,153 | G/A | intron variant | — |
| rs747747935 | 2:224,702,156 | C/G | — | likely benign |
| rs758275363 | 2:224,702,157 | G/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.