PPFIBP1
PPFIB scaffold protein 1
Summary
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61915290 | 12:27,679,454 | A/C | intron variant | — |
| rs10771345 | 12:27,723,442 | G/A | intron variant | — |
| rs190228284 | 12:27,751,228 | A/G | upstream gene variant | — |
| rs538361562 | 12:27,776,036 | A/G | — | — |
| rs10842955 | 12:27,782,860 | G/A | intron variant | — |
| rs2543702630 | 12:27,787,888 | C/T | — | uncertain significance |
| rs2543705100 | 12:27,787,935 | G/A | — | uncertain significance |
| rs765962629 | 12:27,787,944 | C/T | — | uncertain significance |
| rs775649853 | 12:27,787,993 | G/T | — | uncertain significance |
| rs778429118 | 12:27,787,997 | G/C | — | uncertain significance |
| rs771158140 | 12:27,788,017 | A/G | — | uncertain significance |
| rs746647939 | 12:27,799,025 | G/A | — | uncertain significance |
| rs373923026 | 12:27,799,028 | T/C | — | uncertain significance |
| rs142823290 | 12:27,799,047 | G/A | — | uncertain significance |
| rs1422485777 | 12:27,799,061 | A/G | — | uncertain significance |
| rs143847599 | 12:27,800,707 | C/T | — | pathogenic |
| rs200914061 | 12:27,800,765 | T/C | — | uncertain significance |
| rs200970429 | 12:27,800,792 | G/T | — | likely benign |
| rs199881715 | 12:27,800,794 | A/T | — | likely benign |
| rs767861115 | 12:27,802,945 | G/C | — | uncertain significance |
| rs759464631 | 12:27,802,958 | A/G | — | uncertain significance |
| rs747090407 | 12:27,807,734 | T/A | — | uncertain significance |
| rs1212969675 | 12:27,807,736 | A/G | — | uncertain significance |
| rs1159614180 | 12:27,808,100 | A/G | — | uncertain significance |
| rs200359000 | 12:27,808,102 | G/A | — | likely benign |
| rs992720566 | 12:27,808,161 | C/T | — | uncertain significance |
| rs773186244 | 12:27,809,558 | G/A | — | uncertain significance |
| rs138974239 | 12:27,813,819 | A/G | — | uncertain significance |
| rs143554172 | 12:27,820,108 | G/C | — | uncertain significance |
| rs749390404 | 12:27,820,113 | T/C | — | uncertain significance |
| rs2059916812 | 12:27,820,254 | G/A | — | pathogenic |
| rs566833196 | 12:27,824,300 | A/G | — | — |
| rs2060196312 | 12:27,824,394 | C/T | — | uncertain significance |
| rs150528906 | 12:27,824,452 | C/G | — | uncertain significance |
| rs1421555223 | 12:27,825,382 | G/A | — | uncertain significance |
| rs2140201554 | 12:27,825,397 | C/T | — | pathogenic |
| rs1377168736 | 12:27,825,406 | G/A | — | uncertain significance |
| rs2060365124 | 12:27,827,150 | C/T | — | uncertain significance |
| rs1185665516 | 12:27,829,389 | T/C | — | uncertain significance |
| rs2140279716 | 12:27,829,418 | C/T | — | pathogenic |
| rs376929898 | 12:27,829,455 | G/A | — | uncertain significance |
| rs2545170100 | 12:27,829,458 | A/C | — | uncertain significance |
| rs748483186 | 12:27,829,460 | G/T | — | uncertain significance |
| rs1593312263 | 12:27,829,472 | T/A | — | uncertain significance |
| rs143859582 | 12:27,829,489 | T/A | — | uncertain significance |
| rs200486013 | 12:27,832,476 | G/A | — | uncertain significance |
| rs2060758276 | 12:27,832,481 | A/G | — | uncertain significance |
| rs142910651 | 12:27,832,497 | A/G | — | likely benign |
| rs187660139 | 12:27,832,498 | C/G | — | likely benign |
| rs529824864 | 12:27,832,515 | C/T | — | uncertain significance |
| rs1461019334 | 12:27,832,879 | C/G | — | uncertain significance |
| rs778956238 | 12:27,832,934 | G/A | — | uncertain significance |
| rs142422262 | 12:27,832,973 | G/A | — | uncertain significance |
| rs373637167 | 12:27,835,320 | G/A | — | uncertain significance |
| rs200119939 | 12:27,835,326 | G/C | — | conflicting classifications of pathogenicity |
| rs770870921 | 12:27,835,399 | A/G | — | uncertain significance |
| rs1593356841 | 12:27,835,433 | T/C | — | pathogenic |
| rs2140392469 | 12:27,835,566 | G/T | — | uncertain significance |
| rs2545377996 | 12:27,835,632 | C/G | — | uncertain significance |
| rs138351765 | 12:27,840,145 | T/C | intron variant | — |
| rs979258108 | 12:27,840,352 | T/C | — | uncertain significance |
| rs2545490061 | 12:27,841,258 | A/G | — | uncertain significance |
| rs138941072 | 12:27,841,260 | G/C | — | uncertain significance |
| rs146185523 | 12:27,841,273 | C/T | — | pathogenic |
| rs369668351 | 12:27,841,292 | G/A | — | uncertain significance |
| rs539499516 | 12:27,841,969 | G/A | — | uncertain significance |
| rs201325210 | 12:27,842,021 | G/A | — | uncertain significance |
| rs780743869 | 12:27,842,024 | G/A | — | uncertain significance |
| rs147160498 | 12:27,842,063 | A/C | — | benign |
| rs150045915 | 12:27,842,072 | A/G | — | uncertain significance |
| rs1363198922 | 12:27,842,080 | C/T | — | pathogenic |
| rs772306669 | 12:27,842,101 | G/A | — | uncertain significance |
| rs753078341 | 12:27,844,744 | A/T | — | uncertain significance |
| rs140823525 | 12:27,844,763 | G/C | — | likely benign |
| rs200511262 | 12:27,844,775 | G/A | — | uncertain significance |
| rs2545573444 | 12:27,844,785 | G/A | — | uncertain significance |
| rs2545594399 | 12:27,845,582 | A/G | — | uncertain significance |
| rs748566094 | 12:27,845,746 | T/A | — | uncertain significance |
| rs772597763 | 12:27,845,751 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.