PJA1
praja ring finger ubiquitin ligase 1
Summary
This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1312714492 | X:68,300,766 | C/T | — | likely benign |
| rs1392599014 | X:68,381,157 | G/A | — | uncertain significance |
| rs142769836 | X:68,381,165 | G/C | — | benign |
| rs11539157 | X:68,381,264 | C/T | synonymous variant | — |
| rs184434118 | X:68,381,275 | C/T | — | uncertain significance |
| rs766207691 | X:68,381,320 | C/T | — | uncertain significance |
| rs746327146 | X:68,381,361 | A/G | — | uncertain significance |
| rs1255486840 | X:68,381,407 | C/T | — | uncertain significance |
| rs199707327 | X:68,381,424 | G/T | — | uncertain significance |
| rs2519691601 | X:68,381,595 | T/C | — | uncertain significance |
| rs770667160 | X:68,381,640 | T/C | — | uncertain significance |
| rs199987256 | X:68,381,657 | C/T | — | likely benign |
| rs746479516 | X:68,381,768 | G/T | — | uncertain significance |
| rs200654774 | X:68,381,772 | C/G | — | uncertain significance |
| rs143670774 | X:68,381,797 | C/T | — | benign |
| rs375900316 | X:68,381,807 | G/A | — | likely benign |
| rs1392340744 | X:68,381,814 | G/A | — | uncertain significance |
| rs144546602 | X:68,381,832 | G/A | — | uncertain significance |
| rs752730469 | X:68,381,842 | C/T | — | likely benign |
| rs150997516 | X:68,381,917 | T/C | — | uncertain significance |
| rs745369655 | X:68,381,956 | G/A | — | uncertain significance |
| rs747047113 | X:68,382,039 | G/T | — | uncertain significance |
| rs771139852 | X:68,382,052 | T/C | — | uncertain significance |
| rs140630019 | X:68,382,054 | C/T | — | likely benign |
| rs752399855 | X:68,382,277 | C/T | — | uncertain significance |
| rs560701600 | X:68,382,385 | G/A | — | uncertain significance |
| rs1191505398 | X:68,382,417 | C/G | — | uncertain significance |
| rs143354573 | X:68,382,504 | C/T | — | uncertain significance |
| rs745599427 | X:68,382,546 | C/T | — | uncertain significance |
| rs201192157 | X:68,382,576 | G/C | — | uncertain significance |
| rs144593024 | X:68,382,666 | A/G | — | likely benign |
| rs141198936 | X:68,382,773 | C/G | — | uncertain significance |
| rs150734373 | X:68,382,785 | A/G | — | likely benign |
| rs139094275 | X:68,382,835 | C/T | — | uncertain significance |
| rs7067170 | X:68,382,836 | G/A | synonymous variant | — |
| rs767064621 | X:68,382,872 | C/T | — | likely benign |
| rs757597407 | X:68,382,873 | G/A | — | uncertain significance |
| rs1215228144 | X:68,383,052 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.