Q9UNW1
PR
Gene name |
MINPP1 (MIPP, UNQ900/PRO1917) |
Protein name |
Multiple inositol polyphosphate phosphatase 1 |
Names |
2,3-bisphosphoglycerate 3-phosphatase, 2,3-BPG phosphatase, Inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase, Ins(1,3,4,5)P(4) 3-phosphatase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9562 |
EC number |
3.1.3.62: 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
1 structures for Q9UNW1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UNW1-F1 | Predicted | AlphaFoldDB |
401 variants for Q9UNW1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA117213 rs119486096 VAR_022836 RCV000005324 |
41 | S>L | Thyroid cancer, nonmedullary, 2 NMTC2; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_086289 | 53 | Y>D | PCH16; loss of enzymatic activity [UniProt] | Yes | UniProt |
|
rs1456945513 VAR_086290 CA377782485 |
228 | F>L | PCH16; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
VAR_022837 CA117215 rs104894171 RCV000005325 |
270 | Q>R | Thyroid cancer, nonmedullary, 2 NMTC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_086291 | 284 | A>D | PCH16; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_086292 | 331 | I>S | PCH16; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_086293 rs1381093602 CA377783603 |
401 | R>Q | PCH16; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
| VAR_086294 | 404 | R>del | PCH16; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_086295 | 486 | E>K | PCH16; unknown pathological significance; contary to wild-type, does not rescue normal growth in a MINPP1 knockout cell line [UniProt] | Yes | UniProt |
|
CA5588893 rs747187209 |
2 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588894 rs747187209 |
2 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588896 rs747991676 |
3 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA377779716 rs1327781109 |
3 | R>S | No |
ClinGen gnomAD |
|
|
CA377779730 rs1312327143 |
4 | A>T | No |
ClinGen gnomAD |
|
|
CA377779754 rs1423127407 |
5 | P>L | No |
ClinGen TOPMed |
|
|
rs773283524 CA5588898 |
5 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773959081 CA5588901 |
6 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588900 rs770549254 |
6 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA211312365 rs770549254 |
6 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5588903 rs767229680 |
7 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA377779771 rs1341071594 |
7 | C>G | No |
ClinGen Ensembl |
|
|
CA211312366 rs767229680 |
7 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1231208594 CA377779781 |
8 | L>F | No |
ClinGen TOPMed |
|
|
CA377779790 rs1242664524 |
8 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1169218675 CA377779798 |
9 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs545233389 CA5588907 |
9 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377779806 rs766349719 |
10 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588910 rs751703635 |
10 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5588911 rs755119877 |
11 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5588912 rs755119877 |
11 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA377779824 rs747880842 |
12 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211312367 rs959358123 |
12 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs747880842 CA5588913 |
12 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377779826 rs959358123 |
12 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5588915 rs777766037 |
13 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777766037 CA377779834 |
13 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347372229 CA377779843 |
14 | A>P | No |
ClinGen gnomAD |
|
|
CA377779841 rs1347372229 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs375629323 CA211312368 |
14 | A>V | No |
ClinGen gnomAD |
|
|
CA377779857 rs1465406409 |
15 | P>S | No |
ClinGen gnomAD |
|
|
rs1465406409 CA377779854 |
15 | P>T | No |
ClinGen gnomAD |
|
|
rs1319269528 CA377779865 |
16 | A>T | No |
ClinGen TOPMed |
|
|
CA5588917 rs770939211 |
16 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs946590064 CA211312370 |
18 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs745405045 CA5588920 |
19 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467254825 CA377779906 |
20 | A>T | No |
ClinGen gnomAD |
|
|
CA377779926 rs1457335854 |
21 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775213928 CA5588921 |
21 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA377779930 rs1457335854 |
21 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760388017 CA377779939 |
22 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901526030 CA211312373 |
22 | A>P | No |
ClinGen Ensembl |
|
|
CA5588922 rs760388017 |
22 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588924 COSM1194258 rs773618197 |
25 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377779987 rs1280754635 |
26 | S>* | No |
ClinGen TOPMed |
|
|
CA377779992 rs1280754635 |
26 | S>L | No |
ClinGen TOPMed |
|
|
CA211312375 rs993096786 |
27 | L>F | No |
ClinGen Ensembl |
|
|
rs867508581 CA211312377 |
28 | A>E | No |
ClinGen Ensembl |
|
|
rs923721408 CA211312376 |
28 | A>P | No |
ClinGen TOPMed |
|
|
rs763421856 CA5588925 |
29 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1200541904 CA377780029 |
29 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766943784 CA5588926 |
30 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA5588928 rs764783792 |
31 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751548276 CA377780059 |
31 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs751548276 CA5588927 |
31 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5588929 rs542689260 |
32 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377780095 rs1342901671 |
33 | L>Q | No |
ClinGen TOPMed |
|
|
rs745377288 CA5588932 |
35 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA377780158 CA5588933 rs753715845 |
36 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1160717645 CA377780151 |
36 | R>T | No |
ClinGen gnomAD |
|
|
CA5588935 rs778923379 |
37 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs757092961 CA5588934 |
37 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs745311794 CA5588936 |
38 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377780190 rs745311794 |
38 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888019654 CA211312378 |
38 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs531327031 CA211312379 |
43 | L>V | No |
ClinGen 1000Genomes |
|
|
CA377780290 rs779605068 CA5588938 |
44 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377780299 rs1230526912 |
45 | P>A | No |
ClinGen gnomAD |
|
|
rs1304947621 CA377780308 |
45 | P>L | No |
ClinGen gnomAD |
|
|
CA377780295 rs1230526912 |
45 | P>S | No |
ClinGen gnomAD |
|
|
CA5588941 rs773513991 |
46 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763402561 CA5588942 |
47 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219942620 CA377780368 |
48 | G>R | No |
ClinGen gnomAD |
|
|
rs1267981854 CA377780394 |
49 | T>I | No |
ClinGen gnomAD |
|
|
rs1483171698 CA377780425 |
51 | T>A | No |
ClinGen gnomAD |
|
|
CA211312380 rs757948877 |
52 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757948877 CA5588945 |
52 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588946 rs767605980 |
52 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588944 rs757948877 |
52 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760932743 CA5588948 |
53 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA377780514 rs1163327489 |
55 | D>G | No |
ClinGen gnomAD |
|
|
rs757088490 CA5588951 |
58 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377780562 rs1564669252 |
58 | P>S | No |
ClinGen Ensembl |
|
|
rs146209573 CA377780581 |
59 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146209573 CA211312383 |
59 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs995786383 CA211312385 |
61 | L>F | No |
ClinGen TOPMed |
|
|
rs139124355 CA5588954 |
63 | G>D | No |
ClinGen ESP ExAC TOPMed |
|
|
rs139124355 CA5588953 |
63 | G>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5588957 rs374305322 |
64 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746541590 CA5588956 |
64 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747817029 CA5588959 |
66 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 66 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5588960 rs771325586 |
69 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211312386 rs894786310 |
70 | D>G | No |
ClinGen Ensembl |
|
|
CA5588962 rs376159805 |
70 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377780778 rs376159805 |
70 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377780812 rs1181911004 |
71 | P>L | No |
ClinGen gnomAD |
|
|
CA5588964 rs775673411 |
74 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs994492644 CA211312388 |
75 | E>G | No |
ClinGen Ensembl |
|
|
RCV000896138 rs201191421 CA5588965 |
75 | E>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA377780910 rs1485394819 |
76 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377780896 rs1412018246 |
76 | G>R | No |
ClinGen gnomAD |
|
|
CA377780901 rs1412018246 |
76 | G>W | No |
ClinGen gnomAD |
|
|
rs776979333 CA5588967 |
77 | T>A | No |
ClinGen ExAC |
|
|
CA5588968 rs762007716 |
78 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338771395 CA377780988 |
80 | P>L | No |
ClinGen gnomAD |
|
|
CA377781030 rs1450275183 |
82 | Q>H | No |
ClinGen gnomAD |
|
|
CA5588972 rs766332791 |
85 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1365600278 CA377781076 |
85 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751000561 CA5588973 |
86 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359072429 CA377781321 |
90 | G>V | No |
ClinGen TOPMed |
|
|
rs1264383612 CA377781323 |
91 | T>A | No |
ClinGen gnomAD |
|
|
rs747809466 CA5588976 |
92 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA377781337 rs1183462822 |
93 | Y>C | No |
ClinGen gnomAD |
|
|
CA5588977 rs755774136 |
94 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377781347 rs1476698788 |
95 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1185122219 CA377781351 |
95 | T>M | No |
ClinGen gnomAD |
|
|
CA211312390 rs2233167 |
96 | V>G | No |
ClinGen Ensembl |
|
|
CA377781361 rs1419328128 |
97 | K>R | No |
ClinGen gnomAD |
|
|
CA377781367 rs1433981367 |
98 | Q>* | No |
ClinGen gnomAD |
|
|
CA377781377 rs1178860381 |
99 | I>S | No |
ClinGen gnomAD |
|
|
CA377781374 rs1167462272 |
99 | I>V | No |
ClinGen gnomAD |
|
|
CA5588979 rs746251663 |
100 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA211312391 rs1003667990 |
100 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5588981 rs776155692 |
102 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA211312392 rs202094362 |
104 | Q>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1361016361 CA377781406 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
CA5588983 rs377727635 |
106 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA377781425 rs1320744972 |
107 | G>E | No |
ClinGen gnomAD |
|
|
CA377781441 rs1268270106 |
110 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA377781456 rs1214367643 |
112 | R>C | No |
ClinGen gnomAD |
|
|
CA5588987 rs534068177 |
113 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1430369818 CA377781469 |
114 | S>F | No |
ClinGen gnomAD |
|
|
rs765398008 CA5588988 |
114 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773018229 CA5588989 |
116 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs148680106 CA5588990 |
118 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377781490 rs1427501545 |
118 | G>R | No |
ClinGen gnomAD |
|
|
rs766243030 CA5588991 |
119 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1006474445 CA211312394 |
120 | S>G | No |
ClinGen Ensembl |
|
|
CA377781500 rs1006474445 |
120 | S>R | No |
ClinGen Ensembl |
|
|
rs1055748175 CA211312395 |
121 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377781515 rs1402306133 |
122 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1490271443 CA377781536 |
125 | R>C | No |
ClinGen TOPMed |
|
|
CA377781535 rs1490271443 |
125 | R>G | No |
ClinGen TOPMed |
|
|
rs1013736051 CA211312397 |
125 | R>H | No |
ClinGen gnomAD |
|
|
CA377781555 rs1343233437 |
128 | G>A | No |
ClinGen gnomAD |
|
|
rs1304771495 CA377781553 |
128 | G>S | No |
ClinGen gnomAD |
|
|
rs1222588948 CA377781567 |
130 | A>V | No |
ClinGen gnomAD |
|
|
CA5588994 rs766995530 |
131 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588996 rs755753378 |
132 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5588998 rs746187171 |
133 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs777297327 CA5588997 |
133 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5588999 rs758822848 |
141 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225147448 CA377781647 |
142 | M>V | No |
ClinGen gnomAD |
|
|
CA377781664 rs1589366085 |
144 | G>R | No |
ClinGen Ensembl |
|
|
CA377781665 rs1589366085 |
144 | G>W | No |
ClinGen Ensembl |
|
|
CA377781682 rs1564669574 |
146 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 147 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs944526510 CA211312399 |
147 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA377781714 rs1353600959 |
151 | R>P | No |
ClinGen gnomAD |
|
|
CA5589002 rs201808712 |
151 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781282233 CA5589003 |
155 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5589004 rs748205648 |
158 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769988677 CA5589005 |
159 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs371279085 CA5589006 |
160 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142167582 CA211312403 |
165 | F>L | No |
ClinGen ESP |
|
|
CA5589007 rs200029988 |
165 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770686571 CA5589008 |
166 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377781883 rs1278485413 |
167 | A>P | No |
ClinGen gnomAD |
|
|
CA5589010 rs759423253 |
168 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767389525 CA5589011 |
170 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377781927 rs767389525 |
170 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941639256 CA377781938 |
171 | R>C | No |
ClinGen TOPMed |
|
|
rs941639256 CA211312404 |
171 | R>G | No |
ClinGen TOPMed |
|
|
CA377781946 rs1359191653 |
171 | R>H | No |
ClinGen gnomAD |
|
|
CA377781949 rs1359191653 |
171 | R>L | No |
ClinGen gnomAD |
|
|
rs1196551311 CA377781968 |
172 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377781953 rs1480333303 |
172 | E>K | No |
ClinGen TOPMed |
|
|
CA5589013 rs760117757 |
174 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763719114 CA5589014 |
175 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5589015 rs753536996 |
176 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211312405 rs752550671 |
176 | R>H | No |
ClinGen TOPMed |
|
|
CA377782021 rs752550671 |
176 | R>L | No |
ClinGen TOPMed |
|
|
rs757010654 CA5589016 |
178 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5589017 rs780542979 |
179 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs751994114 CA5589018 |
180 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs367962697 CA211312406 |
180 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs1398149098 CA377782075 |
182 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1398149098 CA377782073 |
182 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377782082 rs1254800361 |
183 | S>P | No |
ClinGen gnomAD |
|
|
CA5589019 rs755500266 |
184 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769745870 CA5589022 |
188 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs748198537 CA5589021 |
188 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA377782116 rs781552268 CA5589020 |
188 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382438776 CA377782126 |
189 | D>G | No |
ClinGen gnomAD |
|
|
rs1313581265 CA377782122 |
189 | D>N | No |
ClinGen gnomAD |
|
|
CA377782144 rs1228570702 |
191 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5589024 rs749493424 |
199 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA377782211 rs1286697148 |
201 | H>Q | No |
ClinGen TOPMed |
|
|
rs749766225 CA211312410 |
201 | H>R | No |
ClinGen Ensembl |
|
|
CA377782217 rs1241232705 |
202 | Y>C | No |
ClinGen gnomAD |
|
|
CA377782233 rs1564669771 |
204 | P>R | No |
ClinGen Ensembl |
|
|
CA377782235 rs1406128325 |
205 | G>S | No |
ClinGen TOPMed |
|
|
CA377782251 rs1374647901 |
207 | P>Q | No |
ClinGen gnomAD |
|
|
CA377782250 rs1175049363 |
207 | P>S | No |
ClinGen TOPMed |
|
|
rs1469784437 CA377782256 |
208 | P>Q | No |
ClinGen TOPMed |
|
|
CA5589026 rs567369847 |
208 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1427799036 CA377782264 |
209 | P>L | No |
ClinGen TOPMed |
|
|
rs1427799036 CA377782263 |
209 | P>R | No |
ClinGen TOPMed |
|
|
CA5589028 rs759333132 |
212 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759333132 CA5589029 |
212 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211312411 rs759333132 |
212 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211312703 rs780770929 |
214 | M>R | No |
ClinGen TOPMed |
|
|
CA377782394 rs780770929 |
214 | M>T | No |
ClinGen TOPMed |
|
|
rs202158684 CA5589080 |
215 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5589081 rs754341204 |
218 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377782432 rs1243459615 |
220 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs762348571 CA5589082 |
220 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA377782430 rs1243459615 |
220 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 221 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216511857 CA377782435 |
221 | V>I | No |
ClinGen TOPMed |
|
|
CA211312704 rs1039266338 |
224 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 224 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222397650 CA377782472 |
226 | M>T | No |
ClinGen TOPMed |
|
|
CA5589083 rs765279000 |
226 | M>V | No |
ClinGen ExAC gnomAD |
|
| rs1249046608 | 230 | D>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758509432 CA5589085 |
230 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5589084 rs750537943 |
230 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA377782510 rs1468025041 |
231 | H>R | No |
ClinGen TOPMed |
|
|
rs1443375743 CA595187379 |
232 | C>* | No |
ClinGen gnomAD |
|
|
rs1181625917 CA377782515 |
232 | C>R | No |
ClinGen gnomAD |
|
|
rs1271171370 CA377782558 |
237 | T>I | No |
ClinGen TOPMed |
|
|
CA377782562 rs1430454423 |
238 | E>A | No |
ClinGen gnomAD |
|
|
CA5589087 rs751253859 |
241 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338826773 CA377782596 |
243 | A>T | No |
ClinGen gnomAD |
|
|
CA377782600 rs1408181487 |
243 | A>V | No |
ClinGen gnomAD |
|
|
rs781197534 CA5589089 |
246 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748063255 CA5589090 |
247 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA211312705 rs1051242120 |
248 | H>D | No |
ClinGen Ensembl |
|
|
rs1026420496 CA211312706 |
249 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5589092 rs747702345 |
251 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545242489 CA211312707 |
253 | K>E | No |
ClinGen TOPMed |
|
|
CA211312708 rs940293465 |
253 | K>R | No |
ClinGen Ensembl |
|
|
CA5589093 rs201618662 |
254 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5589094 rs201618662 |
254 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1195149 rs759179191 CA5589096 |
258 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs774041685 CA5589095 |
258 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211312709 rs146621374 |
261 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA377782720 rs1324428847 |
262 | L>* | No |
ClinGen TOPMed |
|
|
COSM3807896 CA5589097 rs768977489 COSM3807895 |
262 | L>F | Variant assessed as Somatic; 9.239e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1324428847 CA377782721 |
262 | L>S | No |
ClinGen TOPMed |
|
|
rs777031012 CA5589098 |
265 | V>G | No |
ClinGen ExAC gnomAD |
|
| rs1487068341 | 265 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389863944 CA377782748 |
266 | A>G | No |
ClinGen TOPMed |
|
|
CA5589099 rs762258613 |
266 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5589100 rs765763863 |
267 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5589101 rs147897043 |
270 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5589102 rs141592439 |
272 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA211312710 rs898171357 |
274 | N>S | No |
ClinGen TOPMed |
|
|
rs766423567 CA5589103 |
275 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5589104 rs751799548 |
276 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs369216745 CA5589105 |
277 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5589106 rs781108940 |
278 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 283 | V>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748636033 CA5589128 |
284 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1435705057 | 286 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248593015 CA377783005 |
287 | T>I | No |
ClinGen gnomAD |
|
|
rs1248593015 CA377783001 |
287 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 290 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377783084 rs1196605609 |
292 | L>P | No |
ClinGen gnomAD |
|
|
CA5589131 rs757193164 |
292 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA211313158 rs756640525 |
294 | I>T | No |
ClinGen Ensembl |
|
|
rs1193375236 CA377783105 |
294 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1209944004 CA377783124 |
295 | K>E | No |
ClinGen TOPMed |
|
|
TCGA novel rs1589370379 CA377783195 |
298 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
| TCGA novel | 299 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778439139 COSM1702734 CA5589132 |
300 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377783256 rs1237462801 |
301 | W>* | No |
ClinGen gnomAD |
|
|
CA377783244 rs1196632809 |
301 | W>G | No |
ClinGen gnomAD |
|
|
CA5589133 rs745412262 |
307 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA377783413 rs757976821 |
308 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5589134 rs757976821 |
308 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5589135 rs779695413 |
310 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746721320 CA5589136 COSM1215098 |
310 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377784619 rs1429382196 |
312 | V>I | No |
ClinGen gnomAD |
|
|
rs757890666 CA5589157 |
317 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5589158 rs779605197 |
326 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs749643952 CA5589162 |
331 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5589161 rs778148630 |
331 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377784768 rs1436780310 |
332 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5589163 rs771415137 |
333 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535934270 CA5589164 |
334 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1052126196 CA211314002 |
338 | T>I | No |
ClinGen Ensembl |
|
|
CA377784838 rs1344275518 |
342 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5589166 rs554560596 |
342 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760904644 CA5589168 |
343 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5589169 rs768794202 |
344 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256613356 CA377784859 |
345 | Q>R | No |
ClinGen TOPMed |
|
|
CA377784865 rs1202991806 |
346 | H>Y | No |
ClinGen TOPMed |
|
|
CA377784879 rs1192494591 |
348 | D>H | No |
ClinGen gnomAD |
|
|
CA377784892 rs1321248870 |
349 | K>N | No |
ClinGen TOPMed |
|
|
rs1268916376 CA377784894 |
350 | A>T | No |
ClinGen gnomAD |
|
|
CA5589171 rs761525350 |
351 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5589190 rs768863610 |
359 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5589189 rs747065294 |
359 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs776702297 CA5589192 |
360 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5589191 rs776702297 |
360 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367662287 CA377782924 |
363 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1456642166 CA377782955 |
365 | I>L | No |
ClinGen gnomAD |
|
|
rs1564685668 CA377782987 |
367 | Q>* | No |
ClinGen Ensembl |
|
|
rs369261111 CA211338615 |
369 | G>D | No |
ClinGen TOPMed |
|
|
rs369261111 CA377783020 |
369 | G>V | No |
ClinGen TOPMed |
|
|
CA5589198 rs758958393 |
374 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs767125263 CA5589199 |
374 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1194923010 CA377783234 |
381 | M>L | No |
ClinGen Ensembl |
|
|
rs755848341 CA5589201 |
381 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 382 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5589203 rs750851143 |
382 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs779371866 CA5589202 |
382 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377783285 rs1457751795 |
383 | Y>C | No |
ClinGen gnomAD |
|
|
CA5589205 rs780718618 |
387 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5589206 rs747607786 |
388 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341127803 CA377783393 |
389 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 390 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172879263 CA377783447 |
392 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1467219558 CA377783460 |
393 | Y>N | No |
ClinGen gnomAD |
|
|
rs1589389061 CA377783511 |
395 | Y>* | No |
ClinGen Ensembl |
|
|
rs748293386 CA5589210 |
397 | K>Q | No |
ClinGen ExAC |
|
|
CA377783579 rs1398007442 |
399 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5589211 rs770021739 |
399 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446034745 CA377783585 |
400 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1446034745 CA377783586 |
400 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA211338694 rs923645834 |
401 | R>W | No |
ClinGen gnomAD |
|
|
CA377783607 rs1226212437 |
402 | K>T | No |
ClinGen gnomAD |
|
|
CA377783626 rs1311614264 |
404 | R>* | No |
ClinGen gnomAD |
|
|
CA211338706 rs373221855 |
404 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA377783631 rs1219915379 |
405 | S>G | No |
ClinGen gnomAD |
|
|
rs772949297 CA5589212 |
407 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204874252 CA377783674 |
408 | I>M | No |
ClinGen gnomAD |
|
|
rs377713895 CA5589213 |
408 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377783676 rs1161344200 |
409 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1392638238 CA377783692 |
410 | P>L | No |
ClinGen gnomAD |
|
|
rs1482497455 CA377783725 |
412 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 416 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211338728 rs890684405 |
416 | I>V | No |
ClinGen TOPMed |
|
|
CA5589217 rs370066493 |
418 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763845361 CA5589220 |
421 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5589219 rs760364331 |
421 | H>Y | No |
ClinGen ExAC |
|
|
CA377783986 rs1318475847 |
426 | K>R | No |
ClinGen TOPMed |
|
|
CA211338777 rs749780429 |
428 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5589222 rs749780429 |
428 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5589223 rs766831356 |
429 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA377784016 rs1340734344 |
431 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377784032 rs1339940985 COSM1349445 |
433 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5589224 rs199774661 |
433 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373225378 CA5589225 |
434 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5589226 rs143351581 |
436 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400389396 CA377784062 |
437 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 438 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 441 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377784096 rs1224616372 |
442 | V>L | No |
ClinGen gnomAD |
|
|
CA377784094 rs1224616372 |
442 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 443 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 444 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209838491 CA377784117 |
445 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs756260066 CA5589228 |
446 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262507072 CA377784195 |
456 | E>D | No |
ClinGen gnomAD |
|
|
CA377784197 rs770684630 |
457 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770684630 CA5589231 |
457 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377784205 rs1193033322 |
458 | L>V | No |
ClinGen gnomAD |
|
|
rs774255909 CA5589232 |
461 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141510967 CA5589233 |
463 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5589234 rs772077743 |
465 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1421084268 CA377784278 |
468 | S>N | No |
ClinGen gnomAD |
|
|
rs774797464 CA5589236 |
471 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 472 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187717846 CA669559440 |
475 | C>* | No |
ClinGen TOPMed |
|
|
CA211338822 rs749768058 |
476 | E>A | No |
ClinGen Ensembl |
|
|
rs1443757283 CA377784352 |
477 | L>F | No |
ClinGen TOPMed |
|
|
rs1589389246 CA377784348 |
477 | L>V | No |
ClinGen Ensembl |
|
|
CA377784355 rs1253701684 |
478 | A>T | No |
ClinGen TOPMed |
|
|
CA377784399 rs1339483954 |
481 | N>T | No |
ClinGen gnomAD |
|
|
CA377784407 rs1458068015 |
482 | S>G | No |
ClinGen TOPMed |
|
|
rs760278370 CA5589238 |
482 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216733925 CA377784450 |
485 | D>V | No |
ClinGen TOPMed |
|
|
rs776417238 CA5589240 |
488 | L>R | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q9UNW1
[MIM: 188470]: Thyroid cancer, non-medullary, 2 (NMTC2)
A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269|PubMed:11297621}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 619527]: Pontocerebellar hypoplasia 16 (PCH16)
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH16 is an autosomal recessive, severe form characterized by hypotonia and severe global developmental delay apparent from early infancy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. {ECO:0000269|PubMed:33168985, ECO:0000269|PubMed:33257696}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269|PubMed:11297621}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH16 is an autosomal recessive, severe form characterized by hypotonia and severe global developmental delay apparent from early infancy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. {ECO:0000269|PubMed:33168985, ECO:0000269|PubMed:33257696}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9UNW1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UNW1 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.62 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| acid phosphatase activity | Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an acid pH optimum. |
| bisphosphoglycerate 3-phosphatase activity | Catalysis of the reaction: 2,3-diphosphoglycerate + H2O = 2-phospho-D-glycerate + phosphate. |
| inositol hexakisphosphate 2-phosphatase activity | Catalysis of the reaction: myo-inositol hexakisphosphate + H2O = myo-inositol 1,3,4,5,6-pentakisphosphate + phosphate. |
| inositol phosphate phosphatase activity | Catalysis of the reaction: inositol phosphate(n) + H2O = inositol phosphate(n-1) + phosphate. This reaction is the removal of a phosphate group from an inositol phosphate. |
| inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity | Catalysis of the reaction: inositol-1,3,4,5,6-pentakisphosphate + H2O = inositol-1,4,5,6-tetrakisphosphate + phosphate. |
| inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity | Catalysis of the reaction: inositol-1,3,4,5-tetrakisphosphate + H2O = inositol-1,4,5-trisphosphate + phosphate. |
| protein histidine phosphatase activity | Catalysis of the reaction: protein histidine phosphate + H2O = protein histidine + phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| inositol phosphate metabolic process | The chemical reactions and pathways involving inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| polyphosphate metabolic process | The chemical reactions and pathways involving a polyphosphate, the anion or salt of polyphosphoric acid. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRAPGCLLR | TSVAPAAALA | AALLSSLARC | SLLEPRDPVA | SSLSPYFGTK | TRYEDVNPVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSGPEAPWRD | PELLEGTCTP | VQLVALIRHG | TRYPTVKQIR | KLRQLHGLLQ | ARGSRDGGAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| STGSRDLGAA | LADWPLWYAD | WMDGQLVEKG | RQDMRQLALR | LASLFPALFS | RENYGRLRLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TSSKHRCMDS | SAAFLQGLWQ | HYHPGLPPPD | VADMEFGPPT | VNDKLMRFFD | HCEKFLTEVE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KNATALYHVE | AFKTGPEMQN | ILKKVAATLQ | VPVNDLNADL | IQVAFFTCSF | DLAIKGVKSP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WCDVFDIDDA | KVLEYLNDLK | QYWKRGYGYT | INSRSSCTLF | QDIFQHLDKA | VEQKQRSQPI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSPVILQFGH | AETLLPLLSL | MGYFKDKEPL | TAYNYKKQMH | RKFRSGLIVP | YASNLIFVLY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HCENAKTPKE | QFRVQMLLNE | KVLPLAYSQE | TVSFYEDLKN | HYKDILQSCQ | TSEECELARA |
| NSTSDEL |