P15309
PR
Gene name |
ACP3 |
Protein name |
Prostatic acid phosphatase |
Names |
PAP, 5'-nucleotidase, 5'-NT, Acid phosphatase 3, Ecto-5'-nucleotidase, Protein tyrosine phosphatase ACP3, Thiamine monophosphatase, TMPase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55 |
EC number |
3.1.3.2: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
11 structures for P15309
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1CVI | X-ray | 320 A | A/B/C/D | 33-374 | PDB |
| 1ND5 | X-ray | 290 A | A/B/C/D | 33-386 | PDB |
| 1ND6 | X-ray | 240 A | A/B/C/D | 33-386 | PDB |
| 2HPA | X-ray | 290 A | A/B/C/D | 33-374 | PDB |
| 2L3H | NMR | - | A | 248-286 | PDB |
| 2L77 | NMR | - | A | 248-286 | PDB |
| 2L79 | NMR | - | A | 248-286 | PDB |
| 2MG0 | NMR | - | A | 262-270 | PDB |
| 3PPD | X-ray | 150 A | A | 260-265 | PDB |
| 7ZZV | NMR | - | A | 85-120 | PDB |
| AF-P15309-F1 | Predicted | AlphaFoldDB |
332 variants for P15309
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs864309497 RCV000202571 |
284 | I>missing | Acute megakaryoblastic leukemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2617894 rs759555720 |
2 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354541892 rs759555720 |
2 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2617895 rs765320569 |
2 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2617896 rs141502063 |
4 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA83556684 rs879217112 |
5 | P>L | No |
ClinGen Ensembl |
|
|
rs1576403181 CA354541943 |
7 | L>F | No |
ClinGen Ensembl |
|
|
rs751393344 CA2617899 |
8 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs150403414 CA2617900 |
9 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212369312 CA354541985 |
11 | A>V | No |
ClinGen gnomAD |
|
|
CA354541991 rs1345980684 |
12 | A>G | No |
ClinGen TOPMed |
|
|
rs767253589 CA2617901 |
13 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83556698 rs17850347 VAR_047960 |
15 | S>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs892761779 CA83556700 |
16 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs201023741 CA354542039 |
17 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201023741 CA2617902 |
17 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1451886026 CA354542059 |
18 | F>L | No |
ClinGen TOPMed |
|
|
CA2617904 rs755615131 |
23 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2617905 rs779552796 |
24 | F>L | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs138177825 CA2617906 |
24 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
rs138177825 CA354542119 |
24 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396338098 CA354542159 |
27 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2617909 rs149109145 |
28 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143202571 CA2617910 |
28 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83556715 rs759831942 |
32 | A>P | No |
ClinGen gnomAD |
|
|
rs776869610 CA83556718 |
33 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776869610 CA2617912 |
33 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769774776 CA354542254 |
35 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354542263 rs1279701196 |
36 | K>R | No |
ClinGen gnomAD |
|
|
rs775625415 CA2617915 |
37 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA354542283 rs1444636426 |
38 | V>M | No |
ClinGen TOPMed |
|
| rs757622848 | 41 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227358279 CA354543187 |
41 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1250054376 CA354543196 |
42 | F>Y | No |
ClinGen gnomAD |
|
|
rs746133481 CA2617931 |
43 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781475900 CA2617930 COSM445597 COSM445596 |
43 | R>W | Variant assessed as Somatic; 0.0 impact. skin breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1018855837 CA83558916 |
45 | G>E | No |
ClinGen gnomAD |
|
|
rs867400909 CA83558918 |
46 | D>E | No |
ClinGen Ensembl |
|
|
CA354543218 rs1484837065 |
46 | D>H | No |
ClinGen gnomAD |
|
|
CA83558922 rs965839810 |
47 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs974512425 CA354543225 |
47 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA83558924 rs974512425 |
47 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2617933 rs780034526 |
48 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs200755203 CA2617932 |
48 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354543237 rs1476337030 |
49 | P>L | No |
ClinGen gnomAD |
|
|
rs749361161 CA2617934 |
49 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2617936 rs774465017 |
50 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs768803310 CA2617935 |
50 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1432542006 CA354543244 |
51 | D>Y | No |
ClinGen gnomAD |
|
|
CA2617937 rs761779572 |
52 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761779572 CA354543255 |
52 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773049144 CA2617939 |
53 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1294091242 CA354543265 |
54 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377523594 CA2617940 |
58 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370760828 CA2617941 |
60 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753337865 CA2617943 |
61 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA83558942 rs987275146 |
62 | S>L | No |
ClinGen TOPMed |
|
|
CA2617944 rs759069721 |
63 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1485596189 CA354543336 |
65 | Q>* | No |
ClinGen gnomAD |
|
|
CA2617945 rs764660360 |
65 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1482536071 CA354543353 |
67 | F>L | No |
ClinGen TOPMed |
|
|
rs747998417 CA83558949 |
68 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs747998417 COSM1670573 COSM1670572 CA2617946 |
68 | G>D | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2617950 rs756337358 |
71 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs981688826 CA354543378 |
72 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA83558957 rs981688826 |
72 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA354543647 rs1156483240 |
75 | M>L | No |
ClinGen gnomAD |
|
|
CA354543665 rs1171130676 |
76 | E>K | No |
ClinGen gnomAD |
|
|
rs200940528 CA2617964 |
78 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354543711 rs1453772580 |
79 | Y>C | No |
ClinGen gnomAD |
|
|
rs1392977007 CA354543733 |
81 | L>P | No |
ClinGen gnomAD |
|
|
rs371699851 CA83559634 |
83 | E>* | No |
ClinGen Ensembl |
|
|
CA2617966 rs780865621 |
83 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371699851 CA83559632 |
83 | E>Q | No |
ClinGen Ensembl |
|
|
CA354543757 rs1373031602 |
84 | Y>H | No |
ClinGen gnomAD |
|
|
rs561832892 CA2617968 |
85 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 90 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232697996 CA354543847 |
91 | K>R | No |
ClinGen gnomAD |
|
|
CA354543861 rs1271328476 |
92 | F>C | No |
ClinGen gnomAD |
|
|
CA2617970 rs375545614 |
92 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996225590 CA83559644 |
93 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 94 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2617972 rs138650875 |
101 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs555748367 CA2617974 |
101 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555748367 CA2617973 |
101 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419363587 CA354544036 |
103 | Y>C | No |
ClinGen gnomAD |
|
|
rs758538660 COSM259296 CA2617993 |
105 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA83559749 rs758538660 |
105 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2617994 rs777654881 COSM204317 COSM1181646 |
105 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2617995 rs747023743 |
106 | S>N | No |
ClinGen ExAC |
|
|
rs1371556247 CA354544077 |
107 | T>I | No |
ClinGen gnomAD |
|
|
CA354544083 rs1434399458 |
108 | D>A | No |
ClinGen gnomAD |
|
|
rs200127763 CA354544087 |
108 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354544091 rs1377362341 |
109 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1404825985 CA354544102 |
110 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2617998 rs745636621 |
111 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2617997 rs368005227 |
111 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354544151 rs1196011186 |
114 | M>I | No |
ClinGen TOPMed |
|
|
rs377152972 CA2618000 |
116 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs377152972 CA83559761 |
116 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs527461516 CA354544186 |
117 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527461516 CA2618001 |
117 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs898355761 CA83559765 |
118 | T>K | No |
ClinGen Ensembl |
|
|
rs773723429 CA2618003 |
119 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2618002 rs758053923 |
119 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17850348 CA2618004 |
120 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_047961 CA83559772 rs17856254 |
124 | F>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs766769148 CA2618005 |
125 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210266602 CA354544267 |
126 | P>L | No |
ClinGen gnomAD |
|
|
CA354544272 rs1197772264 |
127 | E>G | No |
ClinGen TOPMed |
|
|
CA83559777 rs376324267 |
128 | G>C | No |
ClinGen gnomAD |
|
|
CA2618007 rs760000878 |
128 | G>D | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2618009 rs752973463 |
129 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354544294 rs1403353330 |
131 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354544304 rs1214687426 |
132 | W>L | No |
ClinGen TOPMed |
|
|
rs1172046861 CA354544318 |
134 | P>S | No |
ClinGen gnomAD |
|
|
rs1397069483 CA354544329 |
135 | I>M | No |
ClinGen gnomAD |
|
|
rs763071329 CA354544335 |
137 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2618010 rs763071329 |
137 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1343492418 CA354544346 |
138 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 138 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317802625 CA354544341 |
138 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354544363 rs1377846123 |
141 | I>F | No |
ClinGen TOPMed |
|
|
CA2618013 rs141767289 |
142 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354544375 rs1300953534 |
143 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2618015 rs750317057 |
144 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314554381 CA354544406 |
148 | L>F | No |
ClinGen gnomAD |
|
|
CA354544423 rs1218565332 |
150 | E>G | No |
ClinGen gnomAD |
|
|
rs1398442536 CA354544428 |
151 | D>G | No |
ClinGen TOPMed |
|
|
rs779763253 CA2618017 |
151 | D>H | No |
ClinGen ExAC gnomAD |
|
| rs1327797451 | 153 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354544807 rs1352453313 |
153 | L>F | No |
ClinGen gnomAD |
|
|
CA354544827 rs1576416007 |
155 | Y>C | No |
ClinGen Ensembl |
|
|
rs1475456743 CA354544819 |
155 | Y>N | No |
ClinGen TOPMed |
|
|
rs974244952 CA83560912 |
156 | L>P | No |
ClinGen gnomAD |
|
|
CA354544920 rs1187941146 |
161 | C>F | No |
ClinGen TOPMed |
|
|
rs771714388 CA2618040 |
161 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA354544935 rs1474509607 |
162 | P>L | No |
ClinGen TOPMed |
|
|
rs554954787 CA2618041 |
163 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2618042 rs370637506 |
163 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354544958 rs1484956499 |
164 | F>L | No |
ClinGen Ensembl |
|
|
CA354544968 rs1437569220 |
165 | Q>R | No |
ClinGen TOPMed |
|
|
rs930064679 CA83560914 |
166 | E>K | No |
ClinGen TOPMed |
|
|
rs1272925529 CA354544991 |
167 | L>P | No |
ClinGen gnomAD |
|
|
rs770391805 CA2618043 |
169 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs775972749 CA2618044 |
171 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2618047 rs774436869 |
174 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA354545135 rs1370072082 |
179 | K>T | No |
ClinGen gnomAD |
|
|
rs1266483217 CA354545153 |
180 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs549024894 CA354545157 |
180 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200942795 CA2618050 |
181 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760649418 CA2618051 |
183 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs373777294 CA2618053 |
184 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293784885 CA354545194 |
184 | Y>C | No |
ClinGen TOPMed |
|
|
rs754761150 CA2618054 |
185 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83561746 rs918920096 |
189 | A>V | No |
ClinGen gnomAD |
|
|
rs959665839 CA83561747 |
190 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780853788 CA83561748 |
192 | G>R | No |
ClinGen Ensembl |
|
|
CA354546256 rs1297395027 |
193 | K>N | No |
ClinGen TOPMed |
|
|
rs772254420 CA2618070 |
195 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2618072 rs760770327 |
198 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2618071 rs773332320 |
198 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1439696758 CA354546345 |
199 | G>A | No |
ClinGen TOPMed |
|
|
rs1367837005 CA354546335 |
199 | G>S | No |
ClinGen gnomAD |
|
|
CA354546352 rs1418306637 |
200 | Q>* | No |
ClinGen gnomAD |
|
|
rs890320216 CA354546379 |
201 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs752477546 CA2618073 |
202 | L>I | No |
ClinGen ExAC TOPMed |
|
|
CA354546407 rs776438843 |
203 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs755850776 CA2618079 |
206 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752507428 CA2618077 |
206 | W>R | No |
ClinGen ExAC |
|
|
CA354546474 rs1204509136 |
207 | S>C | No |
ClinGen gnomAD |
|
|
rs763859920 CA2618080 |
207 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1452249717 CA354546556 |
211 | D>G | No |
ClinGen gnomAD |
|
|
COSM1038386 rs777524768 CA2618082 COSM1038385 |
211 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780691182 CA2618083 |
212 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs780691182 CA354546563 |
212 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA354546584 rs1452382266 |
213 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1413468786 CA354546600 |
214 | Y>C | No |
ClinGen gnomAD |
|
|
CA2618084 rs749813514 |
215 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2618085 rs755502254 |
216 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749919801 CA2618106 |
217 | S>G | No |
ClinGen ExAC |
|
|
rs755490029 CA2618107 |
218 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2618108 rs779423026 |
220 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs141708902 CA2618110 |
224 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1253366058 CA354547004 |
225 | S>P | No |
ClinGen gnomAD |
|
|
CA354547016 rs17856253 |
226 | W>G | No |
ClinGen gnomAD |
|
|
rs17856253 CA83562134 VAR_047962 |
226 | W>R | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA354547075 rs1187888033 |
229 | E>G | No |
ClinGen gnomAD |
|
|
rs1208901187 CA354547066 |
229 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2618111 rs778054006 |
230 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771182185 CA2618113 |
231 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA83562135 rs748722251 |
234 | K>N | No |
ClinGen Ensembl |
|
|
CA2618115 rs200598576 |
236 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775573290 CA2618117 |
237 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs769721271 CA2618116 |
237 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762922022 CA2618118 |
239 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs931597549 CA83562137 |
241 | L>F | No |
ClinGen Ensembl |
|
|
rs767178800 CA2618122 |
244 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1433314177 CA354547322 |
246 | L>P | No |
ClinGen TOPMed |
|
|
rs1276266998 CA354547336 |
247 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354547385 rs1209576850 |
250 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA83562138 rs180682200 |
250 | H>Y | No |
ClinGen 1000Genomes |
|
|
CA354547451 rs1489200765 |
253 | K>R | No |
ClinGen Ensembl |
|
|
CA2618126 rs753216319 |
256 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1182891594 CA354547531 |
257 | R>S | No |
ClinGen gnomAD |
|
|
rs758893967 CA354547537 |
258 | L>F | No |
ClinGen ExAC |
|
|
CA2618127 rs758893967 |
258 | L>I | No |
ClinGen ExAC |
|
|
CA2618128 rs778178548 |
259 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354547573 rs751924131 |
260 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2618129 rs751924131 |
260 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763493265 CA2618144 |
261 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA354547582 rs1170740611 |
261 | G>R | No |
ClinGen gnomAD |
|
|
CA354548343 rs763493265 |
261 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA83563040 rs985445451 |
262 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs985445451 CA354548351 |
262 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1385925211 CA354548345 |
262 | V>I | No |
ClinGen TOPMed |
|
|
CA83563043 rs1022566053 |
264 | V>I | No |
ClinGen TOPMed |
|
|
rs751968473 CA2618146 |
265 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs767716604 CA83563049 |
267 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767716604 CA2618148 |
267 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559840237 CA354548414 |
268 | L>P | No |
ClinGen Ensembl |
|
|
rs752719546 CA83563053 |
269 | N>D | No |
ClinGen Ensembl |
|
|
rs1371967002 CA354548425 |
269 | N>S | No |
ClinGen Ensembl |
|
|
rs187137862 CA83563058 CA354548465 |
271 | M>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1327783192 CA354548475 |
272 | K>* | No |
ClinGen gnomAD |
|
|
CA354548495 rs1269179298 |
273 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1269179298 CA354548496 |
273 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2618152 rs374283820 |
274 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2618151 rs780319965 |
274 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354548523 rs1248626232 |
275 | T>A | No |
ClinGen gnomAD |
|
|
rs755061458 CA2618153 |
277 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2618154 rs778941982 |
278 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1409829684 CA354548585 |
278 | P>R | No |
ClinGen gnomAD |
|
|
rs1471575777 CA354548591 |
279 | S>G | No |
ClinGen gnomAD |
|
|
rs1462294942 CA354548633 |
281 | K>N | No |
ClinGen TOPMed |
|
|
CA83563065 rs950542755 |
283 | L>F | No |
ClinGen TOPMed |
|
|
CA354548683 rs771914210 |
284 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs576994579 CA2618157 |
284 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2618156 rs771914210 |
284 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354548717 rs1559840324 |
285 | M>I | No |
ClinGen Ensembl |
|
|
rs965451847 CA83563070 |
285 | M>V | No |
ClinGen TOPMed |
|
|
CA83563072 rs867140432 |
287 | S>F | No |
ClinGen Ensembl |
|
|
CA354548749 rs148550603 |
288 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2618158 rs148550603 |
288 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1256882448 CA354549089 |
293 | V>A | No |
ClinGen gnomAD |
|
|
rs1256882448 CA354549086 |
293 | V>G | No |
ClinGen gnomAD |
|
|
CA354549122 rs1441835999 |
294 | S>R | No |
ClinGen gnomAD |
|
|
CA2618180 rs369880148 |
295 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387977065 CA354549158 |
297 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA83560911 rs1051980018 |
297 | Q>H | No |
ClinGen TOPMed |
|
|
CA83560915 rs374647661 |
298 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2618183 rs374647661 |
298 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879094943 CA83560913 |
298 | M>V | No |
ClinGen Ensembl |
|
|
rs1559841813 CA354549251 |
300 | L>I | No |
ClinGen Ensembl |
|
|
rs774858797 CA2618185 |
300 | L>P | No |
ClinGen ExAC |
|
|
rs116804987 RCV000886481 CA2618187 |
301 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA83560917 rs867727702 |
301 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 301 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220198352 CA354549293 |
302 | V>I | No |
ClinGen TOPMed |
|
|
CA2618190 rs766784675 |
303 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83560920 CA2618192 rs140885758 |
305 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
rs765428542 CA2618193 |
305 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1440502577 CA354549356 |
306 | L>F | No |
ClinGen gnomAD |
|
|
CA354549406 rs758413741 |
309 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2618196 rs758413741 |
309 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs533532381 CA2618197 |
310 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1342886442 CA354549422 |
310 | Y>H | No |
ClinGen gnomAD |
|
|
rs533532381 CA354549425 |
310 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2618198 rs369601255 |
311 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757055210 CA2618199 |
311 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA354549492 rs780948901 |
313 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA2618200 rs780948901 |
313 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA2618201 rs745583242 |
314 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA354549524 rs1036731217 |
315 | L>F | No |
ClinGen Ensembl |
|
|
CA2618202 rs769299403 |
315 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs779662063 CA354549543 |
316 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779662063 CA2618203 |
316 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2618205 rs768174463 |
317 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1348172281 CA354549592 |
319 | Y>H | No |
ClinGen TOPMed |
|
|
CA354549673 rs1403603816 |
322 | K>* | No |
ClinGen gnomAD |
|
| rs761207057 | 322 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2618206 rs559725543 |
322 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354549692 rs1367712289 |
323 | G>W | No |
ClinGen gnomAD |
|
|
rs747586799 CA2618226 |
324 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1452992570 CA354550491 |
325 | Y>H | No |
ClinGen TOPMed |
|
|
CA2618227 rs771538324 |
328 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA354550528 rs1264625147 |
328 | E>G | No |
ClinGen gnomAD |
|
|
CA2618228 rs777187800 |
329 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA83562133 rs17851392 VAR_047963 |
330 | Y>H | No |
ClinGen UniProt dbSNP gnomAD |
|
| TCGA novel | 331 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2618231 rs370584472 |
332 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770158263 CA2618230 |
332 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284583988 CA354550629 |
333 | N>S | No |
ClinGen TOPMed |
|
|
rs148218296 CA2618232 |
335 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148218296 CA2618233 |
335 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774379986 CA2618234 |
336 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs761788078 CA2618235 |
337 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2618236 rs373024039 |
338 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408124009 CA354550741 |
339 | P>L | No |
ClinGen gnomAD |
|
|
rs141223268 CA2618240 |
343 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766141679 CA2618239 |
343 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs142891447 CA2618242 |
345 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142891447 CA2618241 |
345 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2618243 rs747642261 |
346 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2618244 rs757936103 |
351 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291998963 CA354550922 |
356 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2618245 rs375817864 |
356 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354550950 rs1253322983 |
358 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs17850198 VAR_047964 CA2618247 |
360 | V>A | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1181733061 CA354550972 |
360 | V>I | No |
ClinGen gnomAD |
|
|
rs774508208 CA354551057 |
366 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs926924086 CA83562147 |
368 | W>* | No |
ClinGen TOPMed |
|
|
rs761910783 CA2618252 |
370 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1462444390 CA354551130 |
371 | E>D | No |
ClinGen gnomAD |
|
|
rs151032097 CA2618254 |
372 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2618255 rs760650057 |
373 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984674770 CA83562160 |
378 | H>R | No |
ClinGen TOPMed |
|
|
rs1284243462 CA354551215 |
378 | H>Y | No |
ClinGen TOPMed |
|
|
rs986956105 CA83562163 |
379 | Q>K | No |
ClinGen gnomAD |
|
|
CA354551238 rs1576428467 |
379 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 383 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P15309
2 regional properties for P15309
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| active_site | Histidine acid phosphatase active site | 35 - 49 | IPR033379-1 |
| active_site | Histidine acid phosphatase active site | 283 - 299 | IPR033379-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.2 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| acid phosphatase complex | A protein complex which is capable of acid phosphatase activity. |
| azurophil granule membrane | The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| phosphatidylinositol phosphate phosphatase complex | A protein complex which is capable of phosphatidylinositol phosphate phosphatase activity. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| vesicle membrane | The lipid bilayer surrounding any membrane-bounded vesicle in the cell. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| 5'-nucleotidase activity | Catalysis of the reaction: a 5'-ribonucleotide + H2O = a ribonucleoside + phosphate. |
| acid phosphatase activity | Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an acid pH optimum. |
| identical protein binding | Binding to an identical protein or proteins. |
| lysophosphatidic acid phosphatase activity | Catalysis of the reaction: lysophosphatidic acid + H2O = phosphate + monoacylglycerol. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
| phosphatase activity | Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
| thiamine phosphate phosphatase activity | Catalysis of the reaction: thiamine phosphate + H2O = thiamine + phosphate. |
| XMP 5'-nucleosidase activity | Catalysis of the reaction: 5'XMP + H20 = phosphate + xanthosine. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| adenosine metabolic process | The chemical reactions and pathways involving adenosine, adenine riboside, a ribonucleoside found widely distributed in cells of every type as the free nucleoside and in combination in nucleic acids and various nucleoside coenzymes. |
| dephosphorylation | The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
| nucleotide metabolic process | The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). |
| positive regulation of adenosine receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of the adenosine receptor signaling pathway. The adenosine receptor pathway is the series of molecular signals generated as a consequence of an adenosine receptor binding to one of its physiological ligands. |
| purine nucleobase metabolic process | The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. |
| regulation of sensory perception of pain | Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. |
| thiamine metabolic process | The chemical reactions and pathways involving thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q70Z53 | FRA10AC1 | Protein FRA10AC1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRAAPLLLAR | AASLSLGFLF | LLFFWLDRSV | LAKELKFVTL | VFRHGDRSPI | DTFPTDPIKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSWPQGFGQL | TQLGMEQHYE | LGEYIRKRYR | KFLNESYKHE | QVYIRSTDVD | RTLMSAMTNL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AALFPPEGVS | IWNPILLWQP | IPVHTVPLSE | DQLLYLPFRN | CPRFQELESE | TLKSEEFQKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LHPYKDFIAT | LGKLSGLHGQ | DLFGIWSKVY | DPLYCESVHN | FTLPSWATED | TMTKLRELSE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSLLSLYGIH | KQKEKSRLQG | GVLVNEILNH | MKRATQIPSY | KKLIMYSAHD | TTVSGLQMAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DVYNGLLPPY | ASCHLTELYF | EKGEYFVEMY | YRNETQHEPY | PLMLPGCSPS | CPLERFAELV |
| 370 | 380 | ||||
| GPVIPQDWST | ECMTTNSHQG | TEDSTD |