P10646
SS
Gene name |
TFPI (LACI, TFPI1) |
Protein name |
Tissue factor pathway inhibitor |
Names |
TFPI , Extrinsic pathway inhibitor , EPI , Lipoprotein-associated coagulation inhibitor , LACI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7035 |
EC number |
|
Protein Class |
|
Descriptions
Kunitz-type protease inhibitor 2 (or hepatocyte growth factor activator inhibitor type 2 (HAI-2)) is an integral membrane Kunitz-type serine protease inhibitor that regulates the proteolysis of matriptase and prostasin in a cell-type selective manner. The vast majority of non-glycosylated HAI-2 is synthesized into multiple disulfide-linked oligomers, which lack protease inhibitory function, likely due to distorted conformations caused by the disarrayed disulfide linkages. N-glycosylation on Asn-57 is required for folding into a functional HAI-2 with full protease suppressive activity and correct subcellular targeting signal.
Autoinhibitory domains (AIDs)
Target domain |
51-105 (Pancreatic trypsin inhibitor Kunitz domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for P10646
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ADZ | NMR | - | A | 118-182 | PDB |
| 1IRH | NMR | - | A | 210-270 | PDB |
| 1TFX | X-ray | 260 A | C/D | 121-178 | PDB |
| 4BQD | X-ray | 248 A | A/B | 29-107 | PDB |
| 4DTG | X-ray | 180 A | K | 119-178 | PDB |
| 5NMV | X-ray | 165 A | K | 29-107 | PDB |
| 6BX8 | X-ray | 198 A | B/D/F/H | 50-107 | PDB |
| 7V1N | EM | 320 A | K | 1-209 | PDB |
| AF-P10646-F1 | Predicted | AlphaFoldDB |
277 variants for P10646
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1414802849 | 4 | T>A | No | TOPMed | |
| rs150523630 | 5 | M>T | No |
ESP ExAC |
|
| rs938904582 | 5 | M>V | No | gnomAD | |
| rs1192902666 | 7 | K>T | No | gnomAD | |
| rs769002181 | 9 | H>P | No |
ExAC gnomAD |
|
|
COSM1013906 COSM1013905 |
11 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747367664 | 12 | W>C | No |
ExAC gnomAD |
|
| rs1275565228 | 13 | A>V | No | gnomAD | |
| rs1686008069 | 15 | V>A | No | TOPMed | |
|
COSM4089586 COSM4089585 |
16 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1345865948 | 19 | L>F | No | gnomAD | |
| rs1574444318 | 20 | N>S | No | TOPMed | |
| rs370282385 | 22 | A>D | No |
ESP TOPMed gnomAD |
|
| rs1158632431 | 22 | A>S | No |
TOPMed gnomAD |
|
| rs1158632431 | 22 | A>T | No |
TOPMed gnomAD |
|
| rs370282385 | 22 | A>V | No |
ESP TOPMed gnomAD |
|
| rs780515003 | 23 | P>S | No | ExAC | |
| rs2106119733 | 24 | A>D | No | Ensembl | |
|
COSM5736354 COSM5736355 |
24 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1373237744 | 25 | P>H | No | gnomAD | |
| rs941697231 | 26 | L>V | No |
TOPMed gnomAD |
|
| rs1412000847 | 28 | A>D | No | gnomAD | |
|
COSM1013904 COSM1013903 |
30 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 32 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1686004585 | 32 | E>D | No | TOPMed | |
| rs758797283 | 32 | E>G | No |
ExAC gnomAD |
|
| rs980228588 | 33 | D>G | No | Ensembl | |
|
COSM258170 COSM258171 |
35 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745977714 | 35 | E>D | No | Ensembl | |
| rs777247902 | 36 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs1686003385 | 36 | H>Q | No | Ensembl | |
| rs777247902 | 36 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs755634273 | 37 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs376282412 | 38 | I>V | No |
ESP TOPMed gnomAD |
|
| rs1686002653 | 39 | I>F | No | TOPMed | |
| rs752279808 | 40 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs767105673 | 40 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs369191990 | 42 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369191990 COSM1013902 COSM1013901 |
42 | T>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs764297723 | 46 | P>Q | No |
ExAC gnomAD |
|
| rs764297723 | 46 | P>R | No |
ExAC gnomAD |
|
| TCGA novel | 46 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760791091 | 47 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs760791091 | 47 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs1685530950 | 47 | L>V | No | TOPMed | |
| rs1458815942 | 50 | M>L | No | gnomAD | |
| rs1685530207 | 51 | H>R | No | gnomAD | |
| rs1203602186 | 52 | S>* | No |
TOPMed gnomAD |
|
| rs775790816 | 52 | S>T | No |
ExAC gnomAD |
|
| rs774790309 | 55 | A>T | No |
ExAC gnomAD |
|
|
COSM5169009 rs568113767 COSM5169010 |
58 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3575302 COSM3575303 |
61 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1423954386 | 63 | C>R | No | TOPMed | |
| rs2106085881 | 65 | A>T | No | Ensembl | |
| rs768270856 | 66 | I>N | No |
ExAC gnomAD |
|
| rs768270856 | 66 | I>T | No |
ExAC gnomAD |
|
| rs1246337669 | 66 | I>V | No | gnomAD | |
| rs746584976 | 67 | M>I | No |
ExAC gnomAD |
|
| rs927037781 | 67 | M>L | No | Ensembl | |
| rs1273055757 | 67 | M>T | No |
TOPMed gnomAD |
|
| rs1358958230 | 68 | K>R | No | gnomAD | |
|
COSM1229056 COSM1229057 rs2106085707 |
69 | R>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1685525660 | 70 | F>L | No | gnomAD | |
| TCGA novel | 71 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1574427283 | 73 | N>D | No | Ensembl | |
| rs1685524767 | 73 | N>S | No | Ensembl | |
| rs758230687 | 77 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs137865208 | 77 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs750268727 | 78 | Q>H | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 78 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1685523990 | 78 | Q>R | No | TOPMed | |
| rs1436569426 | 79 | C>R | No |
TOPMed gnomAD |
|
|
COSM1403975 rs1306063066 COSM1403976 |
80 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1195708100 COSM1669591 COSM1669590 |
81 | E>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs746279961 | 83 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1325093623 | 83 | I>V | No | gnomAD | |
| rs1559119052 | 84 | Y>H | No | Ensembl | |
| rs764019560 | 85 | G>R | No |
ExAC gnomAD |
|
| rs1685521189 | 86 | G>R | No | TOPMed | |
|
COSM3575298 COSM3575299 rs865913136 |
89 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
COSM4484199 COSM4484198 rs1365838968 |
93 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs752822584 | 93 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 95 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1190620520 | 97 | L>R | No | gnomAD | |
| rs34047509 | 99 | E>A | No |
TOPMed gnomAD |
|
|
COSM3838123 COSM3838124 |
99 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200361342 | 100 | C>* | No | gnomAD | |
| rs988772536 | 100 | C>S | No | Ensembl | |
| TCGA novel | 101 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1298862645 | 101 | K>Q | No | TOPMed | |
|
COSM1403973 COSM1403974 |
103 | M>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758109563 | 103 | M>I | No | Ensembl | |
| rs770804965 | 108 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs1227505576 | 108 | N>K | No |
TOPMed gnomAD |
|
| rs749129640 | 109 | A>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756045901 | 111 | R>S | No |
ExAC gnomAD |
|
| rs777477084 | 111 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs1209444931 | 112 | I>L | No |
TOPMed gnomAD |
|
| rs1471884159 | 114 | K>N | No | gnomAD | |
| rs1414724546 | 116 | T>I | No | gnomAD | |
| rs1693440731 | 117 | L>F | No | TOPMed | |
| TCGA novel | 119 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1179809359 | 124 | F>L | No | gnomAD | |
| rs753512380 | 130 | D>E | No | gnomAD | |
| rs868175148 | 131 | P>S | No | Ensembl | |
| rs1234703928 | 133 | I>T | No |
TOPMed gnomAD |
|
| rs769536511 | 133 | I>V | No |
ExAC gnomAD |
|
|
COSM6156317 COSM6156316 |
134 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748063507 | 135 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1320931968 | 135 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs768683033 | 138 | I>T | No |
ExAC gnomAD |
|
| rs780161186 | 140 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs965963126 | 140 | R>K | No | Ensembl | |
| TCGA novel | 140 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1693149648 | 141 | Y>H | No | Ensembl | |
|
COSM1403972 COSM1403971 |
143 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1574398819 | 145 | N>D | No | TOPMed | |
| rs1574398819 | 145 | N>Y | No | TOPMed | |
|
RCV000955298 rs145362964 |
147 | T>K | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1693148237 | 147 | T>P | No | Ensembl | |
| rs2106015894 | 149 | Q>* | No | Ensembl | |
| rs779276186 | 149 | Q>L | No |
ExAC gnomAD |
|
| rs947962035 | 151 | E>D | No |
TOPMed gnomAD |
|
| rs1406747934 | 151 | E>V | No | gnomAD | |
|
rs757564692 COSM1013900 COSM1013899 |
152 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs754353056 | 152 | R>H | No |
ExAC gnomAD |
|
| rs1693145742 | 154 | K>R | No | Ensembl | |
| rs764716260 | 157 | G>R | No |
ExAC gnomAD |
|
| TCGA novel | 158 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762652650 | 162 | M>V | No |
ExAC gnomAD |
|
| TCGA novel | 163 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1193328623 | 166 | E>K | No | TOPMed | |
| rs1693143638 | 167 | T>R | No | TOPMed | |
| rs1322577461 | 168 | L>M | No | gnomAD | |
| rs1054012605 | 168 | L>R | No | TOPMed | |
| rs769566808 | 170 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs549228003 | 170 | E>Q | No |
1000Genomes ExAC |
|
| rs1226420432 | 171 | C>R | No | gnomAD | |
| TCGA novel | 172 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761628569 | 173 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs761628569 | 173 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs1171700296 | 174 | I>T | No |
TOPMed gnomAD |
|
|
COSM1229053 COSM1229054 rs776506802 |
175 | C>Y | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
|
COSM476650 COSM476651 |
176 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780180267 | 177 | D>E | No |
ExAC gnomAD |
|
| rs1693140765 | 177 | D>Y | No | Ensembl | |
| rs1179668984 | 179 | P>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs140515889 | 179 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs140515889 | 179 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs527354813 | 179 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs527354813 | 179 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1693087524 | 183 | Q>P | No | Ensembl | |
| rs1482338722 | 184 | V>A | No |
TOPMed gnomAD |
|
| rs1482338722 | 184 | V>E | No |
TOPMed gnomAD |
|
| rs749588918 | 184 | V>M | No |
ExAC gnomAD |
|
| rs533934843 | 186 | N>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1211508442 | 186 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1286850276 | 187 | Y>C | No | gnomAD | |
| rs1329071823 | 187 | Y>H | No |
TOPMed gnomAD |
|
| rs1331446053 | 188 | G>A | No |
TOPMed gnomAD |
|
| rs1331446053 | 188 | G>E | No |
TOPMed gnomAD |
|
| rs751224149 | 189 | T>S | No |
TOPMed gnomAD |
|
| rs2106011870 | 191 | L>H | No | Ensembl | |
| rs2106011879 | 191 | L>I | No | Ensembl | |
| rs1395069015 | 192 | N>D | No |
TOPMed gnomAD |
|
| rs1395069015 | 192 | N>H | No |
TOPMed gnomAD |
|
| rs148507311 | 192 | N>S | No |
1000Genomes ExAC gnomAD |
|
| rs370705741 | 193 | A>T | No |
ESP TOPMed |
|
| rs201958317 | 194 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs890858430 | 195 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1387745873 | 195 | N>S | No |
TOPMed gnomAD |
|
| rs1387745873 | 195 | N>T | No |
TOPMed gnomAD |
|
| rs1693082021 | 197 | S>P | No | TOPMed | |
| rs749881927 | 198 | L>P | No |
ExAC TOPMed gnomAD |
|
|
rs1693081522 TCGA novel |
199 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs764845860 | 200 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs764845860 | 200 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs1693080613 | 202 | S>L | No | Ensembl | |
| rs1693080816 | 202 | S>P | No | TOPMed | |
| rs753551570 | 204 | K>E | No |
ExAC TOPMed gnomAD |
|
|
COSM4089584 COSM4089583 |
204 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763807243 | 204 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1258433112 | 205 | V>L | No | gnomAD | |
| rs1693079559 | 206 | P>S | No | Ensembl | |
| rs1327475352 | 207 | S>R | No | TOPMed | |
| TCGA novel | 209 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1464850543 | 209 | F>S | No | gnomAD | |
| rs775447533 | 210 | E>Q | No |
ExAC gnomAD |
|
| rs1691804380 | 211 | F>L | No | Ensembl | |
| rs780928165 | 212 | H>D | No |
ExAC gnomAD |
|
|
rs1026019163 COSM4089582 |
212 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA Cosmic |
| TCGA novel | 213 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746176720 | 213 | G>R | No |
ExAC TOPMed gnomAD |
|
|
rs746176720 COSM1482552 |
213 | G>S | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| COSM3575293 | 216 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746779363 | 216 | W>R | No |
ExAC gnomAD |
|
|
rs1691803409 COSM1013896 |
219 | T>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs142016000 | 220 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1462616601 | 221 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1462616601 | 221 | A>T | No |
TOPMed gnomAD |
|
|
rs1208002100 COSM3575292 |
222 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs758406955 | 222 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1330006832 | 223 | R>K | No | TOPMed | |
| COSM1162446 | 226 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs563433428 | 227 | R>G | No |
1000Genomes gnomAD |
|
| rs765177048 | 227 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs563433428 | 227 | R>S | No |
1000Genomes gnomAD |
|
| rs113727256 | 229 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs373953673 | 230 | E>D | No |
ESP ExAC gnomAD |
|
| COSM1013895 | 230 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2105943107 | 230 | E>V | No | Ensembl | |
| rs1282512140 | 231 | N>K | No | gnomAD | |
| rs2105943078 | 232 | R>I | No | Ensembl | |
| TCGA novel | 233 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200555524 | 234 | Y>D | No | gnomAD | |
| rs200555524 | 234 | Y>H | No | gnomAD | |
| rs1384221971 | 238 | V>F | No |
TOPMed gnomAD |
|
| rs764350848 | 239 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs964218566 | 240 | G>E | No |
TOPMed gnomAD |
|
| rs1055198806 | 243 | R>C | No |
TOPMed gnomAD |
|
|
COSM1229055 rs760844343 |
243 | R>H | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1055198806 | 243 | R>S | No |
TOPMed gnomAD |
|
| rs867871964 | 244 | P>L | No | gnomAD | |
| COSM1403970 | 244 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1691800027 | 246 | K>M | No | TOPMed | |
| rs775825146 | 247 | Y>D | No |
ExAC TOPMed gnomAD |
|
|
rs775825146 TCGA novel |
247 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs767926108 | 248 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
|
rs774843611 COSM3896194 |
252 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| COSM1403969 | 253 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769145913 | 256 | N>H | No |
ExAC gnomAD |
|
| rs1691798950 | 258 | T>A | No | gnomAD | |
| rs747717498 | 260 | K>Q | No |
ExAC gnomAD |
|
| COSM4089581 | 261 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768325780 | 262 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1234918150 | 262 | E>V | No |
TOPMed gnomAD |
|
| rs1691798004 | 263 | C>Y | No | Ensembl | |
| rs1691797723 | 265 | R>K | No | gnomAD | |
| rs1691797456 | 266 | A>T | No | Ensembl | |
| rs1691797188 | 268 | K>N | No | TOPMed | |
| rs1691797023 | 269 | K>N | No | TOPMed | |
| rs746726468 | 270 | G>S | No |
ExAC gnomAD |
|
| rs1490555824 | 270 | G>V | No | gnomAD | |
| rs1691750355 | 272 | I>V | No | TOPMed | |
| rs775289223 | 274 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs1309813542 | 275 | I>T | No | gnomAD | |
| rs1691749604 | 276 | S>A | No | TOPMed | |
| TCGA novel | 281 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1365998942 | 281 | I>M | No | gnomAD | |
| rs373189356 | 282 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1691748809 | 283 | T>A | No | Ensembl | |
| COSM1013894 | 285 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770894195 | 285 | R>T | No |
ExAC gnomAD |
|
| rs749239896 | 286 | K>* | No |
ExAC gnomAD |
|
| rs1691748064 | 286 | K>R | No | gnomAD | |
| rs760381187 | 287 | R>K | No | Ensembl | |
| rs777849485 | 287 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1237277957 | 288 | K>R | No |
TOPMed gnomAD |
|
| rs1353674858 | 289 | K>Q | No |
TOPMed gnomAD |
|
| rs756190375 | 289 | K>R | No |
ExAC gnomAD |
|
| rs1201241161 | 291 | R>G | No | gnomAD | |
| rs1355627509 | 291 | R>S | No | TOPMed | |
| rs1574353351 | 291 | R>T | No | TOPMed | |
| rs1691745834 | 292 | V>G | No | TOPMed | |
|
rs5940 VAR_012004 |
292 | V>M | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1048296702 | 294 | I>T | No |
TOPMed gnomAD |
|
| rs1180247868 | 294 | I>V | No | gnomAD | |
| rs865985926 | 296 | Y>C | No | Ensembl | |
|
COSM4829985 rs781414695 |
297 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1447603619 | 298 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1691744401 | 298 | E>G | No | Ensembl | |
| TCGA novel | 300 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1040742368 | 301 | V>L | No | Ensembl | |
| COSM4613554 | 303 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3575291 | 303 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1261349632 | 305 | M>W | No | TOPMed |
No associated diseases with P10646
6 regional properties for P10646
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pancreatic trypsin inhibitor Kunitz domain | 51 - 105 | IPR002223-1 |
| domain | Pancreatic trypsin inhibitor Kunitz domain | 123 - 176 | IPR002223-2 |
| domain | Pancreatic trypsin inhibitor Kunitz domain | 215 - 268 | IPR002223-3 |
| conserved_site | Proteinase inhibitor I2, Kunitz, conserved site | 82 - 100 | IPR020901-1 |
| conserved_site | Proteinase inhibitor I2, Kunitz, conserved site | 153 - 171 | IPR020901-2 |
| conserved_site | Proteinase inhibitor I2, Kunitz, conserved site | 245 - 263 | IPR020901-3 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| side of membrane | A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of an endopeptidase. |
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of a serine-type endopeptidase. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages |
| cellular response to steroid hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. |
| negative regulation of blood coagulation | Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7YRQ8 | TFPI2 | Tissue factor pathway inhibitor 2 | Bos taurus (Bovine) | SS |
| Q868Z9 | Ppn | Papilin | Drosophila melanogaster (Fruit fly) | SS |
| M9PE65 | axo | Axotactin | Drosophila melanogaster (Fruit fly) | SS |
| P49223 | SPINT3 | Kunitz-type protease inhibitor 3 | Homo sapiens (Human) | SS |
| O43291 | SPINT2 | Kunitz-type protease inhibitor 2 | Homo sapiens (Human) | EV |
| O43278 | SPINT1 | Kunitz-type protease inhibitor 1 | Homo sapiens (Human) | EV |
| P48307 | TFPI2 | Tissue factor pathway inhibitor 2 | Homo sapiens (Human) | SS |
| Q9R097 | Spint1 | Kunitz-type protease inhibitor 1 | Mus musculus (Mouse) | SS |
| Q9WU03 | Spint2 | Kunitz-type protease inhibitor 2 | Mus musculus (Mouse) | SS |
| O35536 | Tfpi2 | Tissue factor pathway inhibitor 2 | Mus musculus (Mouse) | SS |
| O54819 | Tfpi | Tissue factor pathway inhibitor | Mus musculus (Mouse) | SS |
| Q02445 | Tfpi | Tissue factor pathway inhibitor | Rattus norvegicus (Rat) | SS |
| Q28864 | TFPI | Tissue factor pathway inhibitor | Macaca mulatta (Rhesus macaque) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIYTMKKVHA | LWASVCLLLN | LAPAPLNADS | EEDEEHTIIT | DTELPPLKLM | HSFCAFKADD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GPCKAIMKRF | FFNIFTRQCE | EFIYGGCEGN | QNRFESLEEC | KKMCTRDNAN | RIIKTTLQQE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KPDFCFLEED | PGICRGYITR | YFYNNQTKQC | ERFKYGGCLG | NMNNFETLEE | CKNICEDGPN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFQVDNYGTQ | LNAVNNSLTP | QSTKVPSLFE | FHGPSWCLTP | ADRGLCRANE | NRFYYNSVIG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KCRPFKYSGC | GGNENNFTSK | QECLRACKKG | FIQRISKGGL | IKTKRKRKKQ | RVKIAYEEIF |
| VKNM |