MMP1
matrix metallopeptidase 1
Summary
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17293823 | 11:102,660,407 | G/A | downstream gene variant | — |
| rs5854 | 11:102,660,874 | G/A | 3 prime UTR variant | benign |
| rs2071230 | 11:102,660,959 | A/G | 3 prime UTR variant | benign |
| rs2239008 | 11:102,661,080 | G/A | — | benign |
| rs470215 | 11:102,661,099 | T/C | — | benign |
| rs2496509359 | 11:102,661,152 | C/A | — | uncertain significance |
| rs117105447 | 11:102,661,164 | C/T | — | uncertain significance |
| rs2071231 | 11:102,661,276 | T/G | — | benign |
| rs17879960 | 11:102,661,371 | C/T | intron variant | — |
| rs186237230 | 11:102,661,435 | A/G | — | benign |
| rs17884120 | 11:102,661,518 | A/T | — | conflicting classifications of pathogenicity |
| rs470747 | 11:102,661,595 | G/A | — | benign |
| rs1938901 | 11:102,661,665 | G/A | intron variant | benign |
| rs17878905 | 11:102,661,757 | G/A | — | benign |
| rs17882844 | 11:102,661,813 | G/C | — | benign |
| rs755263146 | 11:102,662,088 | A/C | — | uncertain significance |
| rs745361439 | 11:102,662,128 | C/T | — | uncertain significance |
| rs768524988 | 11:102,662,131 | T/C | — | uncertain significance |
| rs59142365 | 11:102,662,140 | C/T | — | benign |
| rs201210902 | 11:102,662,223 | T/G | — | uncertain significance |
| rs757959653 | 11:102,662,230 | C/T | — | likely benign |
| rs17881293 | 11:102,662,466 | T/C | — | benign |
| rs756000116 | 11:102,663,363 | C/T | — | uncertain significance |
| rs778882706 | 11:102,663,372 | C/T | — | uncertain significance |
| rs372513685 | 11:102,663,373 | G/A | — | likely benign |
| rs56028730 | 11:102,663,456 | T/C | — | uncertain significance |
| rs367819210 | 11:102,663,459 | G/T | — | uncertain significance |
| rs1144391 | 11:102,663,482 | A/T | — | benign |
| rs7125062 | 11:102,663,503 | C/T | — | benign |
| rs7125320 | 11:102,663,708 | T/G | — | benign |
| rs470221 | 11:102,665,270 | T/C | regulatory region variant | — |
| rs2071232 | 11:102,665,669 | C/T | — | benign |
| rs488178 | 11:102,665,684 | A/T | — | benign |
| rs755602832 | 11:102,665,939 | T/C | — | uncertain significance |
| rs1051121 | 11:102,665,973 | T/C | — | benign |
| rs371416460 | 11:102,665,974 | G/A | — | likely benign |
| rs374600625 | 11:102,665,992 | C/G | — | uncertain significance |
| rs12282811 | 11:102,666,020 | G/T | — | likely benign |
| rs17884145 | 11:102,666,037 | A/G | — | benign |
| rs491152 | 11:102,666,043 | G/A | — | benign |
| rs5031036 | 11:102,666,164 | C/T | — | benign |
| rs374421543 | 11:102,666,176 | T/C | — | likely benign |
| rs746410573 | 11:102,666,257 | A/T | — | uncertain significance |
| rs761955087 | 11:102,666,282 | G/T | — | uncertain significance |
| rs2496524421 | 11:102,666,284 | G/A | — | uncertain significance |
| rs200875962 | 11:102,666,303 | C/T | — | uncertain significance |
| rs470558 | 11:102,666,316 | T/C | synonymous variant | benign |
| rs1180935373 | 11:102,666,335 | T/C | — | uncertain significance |
| rs470132 | 11:102,666,557 | C/A | — | benign |
| rs17878931 | 11:102,666,655 | G/T | — | benign |
| rs17885595 | 11:102,666,962 | G/A | intron variant | — |
| rs996999 | 11:102,667,063 | C/T | intron variant | benign |
| rs754773987 | 11:102,667,409 | G/A | — | uncertain significance |
| rs369054402 | 11:102,667,420 | A/C | — | uncertain significance |
| rs17879973 | 11:102,667,449 | T/C | — | likely benign |
| rs2496529124 | 11:102,667,856 | C/A | — | uncertain significance |
| rs1156579122 | 11:102,667,859 | C/A | — | uncertain significance |
| rs760477914 | 11:102,667,862 | C/G | — | uncertain significance |
| rs1193994633 | 11:102,667,867 | G/T | — | uncertain significance |
| rs114064748 | 11:102,667,879 | G/A | — | likely benign |
| rs200481398 | 11:102,667,983 | C/T | — | likely benign |
| rs10488 | 11:102,668,022 | C/T | synonymous variant | benign |
| rs146887036 | 11:102,668,029 | G/A | — | uncertain significance |
| rs148980271 | 11:102,668,051 | C/A | — | uncertain significance |
| rs143788145 | 11:102,668,089 | G/T | — | likely benign |
| rs148103425 | 11:102,668,111 | T/G | — | uncertain significance |
| rs141894365 | 11:102,668,141 | G/C | — | uncertain significance |
| rs200810479 | 11:102,668,159 | C/G | — | uncertain significance |
| rs17881028 | 11:102,668,686 | T/A | — | benign |
| rs17880344 | 11:102,668,687 | T/G | — | benign |
| rs470358 | 11:102,668,702 | T/C | — | benign |
| rs139018071 | 11:102,668,717 | A/G | — | uncertain significance |
| rs1463376019 | 11:102,668,732 | A/C | — | uncertain significance |
| rs371106856 | 11:102,668,759 | G/A | — | likely benign |
| rs768064078 | 11:102,668,791 | C/T | — | likely benign |
| rs3213460 | 11:102,668,882 | A/G | — | benign |
| rs494379 | 11:102,669,210 | A/G | regulatory region variant | benign |
| rs514921 | 11:102,669,230 | A/G | regulatory region variant | benign |
| rs475007 | 11:102,669,312 | A/G | — | — |
| rs1144393 | 11:102,669,409 | T/C | upstream gene variant | benign |
| rs498186 | 11:102,669,645 | A/G | — | — |
| rs2075847 | 11:102,669,824 | A/C | — | — |
| rs17884166 | 11:102,669,891 | C/T | upstream gene variant | — |
| rs1591085064 | 11:102,670,496 | C/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.