NBR1
NBR1 autophagy cargo receptor
Summary
The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs773307754 | 17:41,327,838 | A/C | — | uncertain significance |
| rs186398347 | 17:41,335,716 | A/G | intron variant | — |
| rs545406926 | 17:41,335,983 | C/A | — | — |
| rs781018939 | 17:41,338,296 | G/T | — | uncertain significance |
| rs1330245243 | 17:41,338,299 | G/C | — | uncertain significance |
| rs2508770070 | 17:41,338,301 | A/C | — | uncertain significance |
| rs748600427 | 17:41,338,318 | C/T | — | uncertain significance |
| rs888155118 | 17:41,338,325 | T/C | — | uncertain significance |
| rs2508770328 | 17:41,338,328 | A/G | — | uncertain significance |
| rs2508770375 | 17:41,338,336 | C/T | — | uncertain significance |
| rs2056800280 | 17:41,338,340 | C/G | — | uncertain significance |
| rs750066370 | 17:41,338,432 | A/G | — | uncertain significance |
| rs1400799729 | 17:41,341,060 | C/T | — | uncertain significance |
| rs553910819 | 17:41,341,144 | T/C | — | likely benign |
| rs536512807 | 17:41,341,626 | G/A | — | uncertain significance |
| rs764800232 | 17:41,341,630 | C/T | — | uncertain significance |
| rs757637341 | 17:41,341,636 | A/G | — | uncertain significance |
| rs1007192054 | 17:41,341,717 | C/T | — | uncertain significance |
| rs770834261 | 17:41,341,739 | T/G | — | uncertain significance |
| rs182608816 | 17:41,341,800 | G/C | — | uncertain significance |
| rs1424758594 | 17:41,342,653 | A/C | — | uncertain significance |
| rs374816564 | 17:41,342,693 | G/A | — | uncertain significance |
| rs752887313 | 17:41,342,709 | G/A | — | uncertain significance |
| rs200688322 | 17:41,342,727 | C/T | — | uncertain significance |
| rs200554551 | 17:41,342,737 | G/A | — | benign |
| rs368122136 | 17:41,343,416 | T/C | — | benign |
| rs2508792969 | 17:41,343,424 | C/T | — | uncertain significance |
| rs115552058 | 17:41,343,460 | G/A | — | benign |
| rs1017480816 | 17:41,343,465 | G/T | — | uncertain significance |
| rs532094208 | 17:41,343,501 | C/T | — | uncertain significance |
| rs35043576 | 17:41,343,515 | C/T | — | benign |
| rs773401859 | 17:41,343,556 | C/T | — | uncertain significance |
| rs760929593 | 17:41,343,561 | G/C | — | uncertain significance |
| rs529923127 | 17:41,343,565 | G/A | — | uncertain significance |
| rs200135450 | 17:41,345,136 | G/A | — | uncertain significance |
| rs1380884600 | 17:41,345,142 | C/G | — | uncertain significance |
| rs777222409 | 17:41,345,145 | A/G | — | uncertain significance |
| rs1346458178 | 17:41,345,155 | C/T | — | uncertain significance |
| rs377650248 | 17:41,345,181 | G/A | — | uncertain significance |
| rs777774534 | 17:41,345,193 | C/T | — | uncertain significance |
| rs776865499 | 17:41,345,231 | G/A | — | uncertain significance |
| rs2508801144 | 17:41,345,245 | A/T | — | uncertain significance |
| rs148320569 | 17:41,345,439 | C/G | — | likely benign |
| rs1031934873 | 17:41,345,497 | A/G | — | uncertain significance |
| rs772151519 | 17:41,345,542 | C/T | — | uncertain significance |
| rs2508807588 | 17:41,346,502 | C/A | — | uncertain significance |
| rs781645413 | 17:41,348,528 | A/T | — | uncertain significance |
| rs757525307 | 17:41,348,558 | T/G | — | uncertain significance |
| rs768775366 | 17:41,348,568 | A/G | — | uncertain significance |
| rs760486151 | 17:41,348,602 | C/T | — | uncertain significance |
| rs770757388 | 17:41,349,020 | A/C | — | likely benign |
| rs759463197 | 17:41,349,024 | C/G | — | uncertain significance |
| rs759788036 | 17:41,352,222 | A/G | — | uncertain significance |
| rs765637178 | 17:41,352,240 | A/G | — | uncertain significance |
| rs145416378 | 17:41,352,278 | T/G | — | likely benign |
| rs1351165623 | 17:41,352,285 | G/T | — | uncertain significance |
| rs559191362 | 17:41,352,287 | T/G | — | likely benign |
| rs749173455 | 17:41,352,388 | G/A | — | uncertain significance |
| rs1381534014 | 17:41,352,426 | C/G | — | uncertain significance |
| rs746574380 | 17:41,352,548 | C/G | — | uncertain significance |
| rs11538738 | 17:41,353,716 | G/A | — | uncertain significance |
| rs763488103 | 17:41,353,722 | C/T | — | uncertain significance |
| rs369015680 | 17:41,354,717 | A/G | — | uncertain significance |
| rs540564972 | 17:41,355,751 | T/C | — | uncertain significance |
| rs1480082037 | 17:41,355,763 | C/T | — | uncertain significance |
| rs1472842158 | 17:41,361,921 | C/A | — | uncertain significance |
| rs762757849 | 17:41,361,959 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.