P16118
PR
Gene name |
PFKFB1 |
Protein name |
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 |
Names |
6PF-2-K/Fru-2,6-P2ase 1, PFK/FBPase 1, 6PF-2-K/Fru-2,6-P2ase liver isozyme |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5207 |
EC number |
2.7.1.105: Phosphotransferases with an alcohol group as acceptor |
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
2 structures for P16118
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1K6M | X-ray | 240 A | A/B | 40-471 | PDB |
| AF-P16118-F1 | Predicted | AlphaFoldDB |
306 variants for P16118
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10427923 rs775994502 |
4 | E>* | No |
ClinGen ExAC |
|
|
CA10427921 rs746356303 |
5 | M>I | No |
ClinGen ExAC |
|
|
CA328959970 rs772606041 |
5 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772606041 CA10427922 |
5 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413278348 rs1487069759 |
9 | T>I | No |
ClinGen gnomAD |
|
|
rs1260615825 CA413278314 |
11 | T>I | No |
ClinGen gnomAD |
|
|
rs1245610978 CA413278242 |
16 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 19 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413278138 rs755610050 |
22 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10427918 rs372615143 |
23 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA413278128 rs1318687861 |
24 | S>R | No |
ClinGen gnomAD |
|
|
rs1280239027 CA413278119 |
24 | S>T | No |
ClinGen gnomAD |
|
|
CA413278097 rs1326010893 |
25 | S>N | No |
ClinGen gnomAD |
|
|
rs754571347 CA10427916 |
27 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs780838121 CA10427917 |
27 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10427915 rs751277259 |
28 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1220240 rs149382881 CA10427913 |
29 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs368904040 CA10427914 |
29 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 30 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413299336 rs1447988166 |
34 | S>T | No |
ClinGen gnomAD |
|
|
rs972998087 CA328959304 |
35 | I>T | No |
ClinGen Ensembl |
|
|
rs1569546988 CA413299320 |
36 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 39 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138841059 CA10427906 |
40 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150213595 CA10427905 COSM291415 |
41 | S>F | Variant assessed as Somatic; 6.255e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772516242 CA10427904 |
42 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983725621 CA328959279 |
43 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 43 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746266406 CA328959276 |
44 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs746266406 CA10427903 |
44 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs774931167 CA10427902 |
47 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413299238 rs771353686 |
49 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10427901 rs771353686 |
49 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA413299219 rs1440115728 |
52 | A>G | No |
ClinGen gnomAD |
|
|
CA328959247 rs867454608 |
53 | R>* | No |
ClinGen gnomAD |
|
|
CA413299216 rs1174842375 |
53 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 56 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413299193 rs1437166764 |
57 | Y>N | No |
ClinGen gnomAD |
|
|
rs1279508649 CA413299168 |
60 | T>K | No |
ClinGen gnomAD |
|
|
rs754553897 CA10427898 |
61 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA413299147 rs1343068110 |
63 | T>I | No |
ClinGen gnomAD |
|
|
rs372795411 CA328959216 COSM1468742 |
64 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA413299109 rs1241263594 CA413299111 |
69 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569546981 CA413299106 |
69 | I>R | No |
ClinGen Ensembl |
|
|
CA413299085 rs1307664308 |
73 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758125962 CA10427895 |
74 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1317889333 CA413299055 |
75 | V>A | No |
ClinGen TOPMed |
|
|
rs1334646629 CA413299072 |
75 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008831680 CA328957693 |
78 | L>I | No |
ClinGen gnomAD |
|
|
rs1362208113 CA413299020 |
80 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413299012 rs1218319769 |
81 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA328957687 rs892692259 |
82 | R>* | No |
ClinGen Ensembl |
|
|
rs1315893271 CA413299007 |
82 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10427873 rs147665375 |
83 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1464583656 CA413299003 |
83 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10427872 rs147013214 |
84 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1414373968 CA413299000 |
84 | E>K | No |
ClinGen gnomAD |
|
|
rs753670363 CA10427870 |
85 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777798063 CA10427869 |
86 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs756195368 CA10427868 |
88 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1240581187 CA413298955 |
90 | N>I | No |
ClinGen gnomAD |
|
|
rs141391352 CA10427867 |
91 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413298932 COSM191907 rs1292621025 |
93 | F>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs767762591 CA10427866 |
93 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751844731 CA10427864 |
96 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA413298899 rs1156585179 |
98 | N>D | No |
ClinGen TOPMed |
|
|
CA10427862 rs147830659 |
98 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10427861 rs773547844 |
99 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1461592038 CA413298892 |
99 | M>V | No |
ClinGen TOPMed |
|
|
rs770352304 CA10427860 |
105 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1248887214 | 106 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212357184 CA413298818 |
107 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1468387179 CA413298816 |
108 | C>R | No |
ClinGen gnomAD |
|
|
CA413298807 rs1198684471 |
109 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1308796224 CA413298793 |
111 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA413298769 rs1262220774 |
115 | D>G | No |
ClinGen TOPMed |
|
|
rs1213691478 CA413298765 |
116 | V>I | No |
ClinGen gnomAD |
|
|
CA10427849 rs148659686 |
118 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413298740 rs1276333617 |
119 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA413298739 rs1276333617 |
119 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1438446795 CA413298720 |
122 | H>Y | No |
ClinGen gnomAD |
|
|
CA413298706 rs1273340193 |
124 | E>K | No |
ClinGen TOPMed |
|
|
CA10427848 rs781388819 |
127 | V>A | No |
ClinGen ExAC gnomAD |
|
| rs201183926 | 128 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM269873 CA10427847 rs202099559 |
128 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 132 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569546931 CA413298610 |
136 | T>I | No |
ClinGen Ensembl |
|
|
rs773053257 CA10427833 |
136 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10427832 rs769750855 |
137 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10427830 COSM1123577 rs781298920 |
139 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1408406355 CA413298594 |
139 | R>Q | No |
ClinGen TOPMed |
|
|
COSM3694663 rs1387380681 CA413298590 |
140 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs747113593 CA10427828 |
140 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780058993 CA10427827 |
143 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10427823 rs757641577 |
148 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1434452904 CA413298538 |
148 | K>R | No |
ClinGen gnomAD |
|
|
rs764589093 COSM1468741 CA10427821 |
149 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10427819 rs139060082 |
150 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10427820 rs758914513 |
150 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780551387 CA10427818 |
152 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 153 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413298473 rs1300364885 |
155 | F>L | No |
ClinGen gnomAD |
|
|
rs1316984028 CA413298469 |
156 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778168151 CA10427804 |
159 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs920287775 CA328955964 |
159 | S>T | No |
ClinGen gnomAD |
|
|
CA413298443 rs1466877967 |
160 | I>V | No |
ClinGen TOPMed |
|
|
rs756639395 CA10427803 |
161 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10427802 rs753182523 |
163 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10427801 rs765889495 |
167 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10427800 rs762389876 |
172 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10427799 rs750054026 |
172 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395513929 CA413298342 |
173 | Q>K | No |
ClinGen gnomAD |
|
|
CA328954950 rs1026355703 |
174 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 176 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167114695 CA413298312 |
177 | G>D | No |
ClinGen gnomAD |
|
|
CA10427784 rs372826497 |
178 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1602194428 CA413298281 |
182 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 183 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 183 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781578516 CA10427783 |
185 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10427781 rs749962265 |
186 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10427782 rs757855528 |
186 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10427780 rs764894133 |
187 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10427779 CA10427778 rs146170729 |
188 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763904042 CA10427777 |
189 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA413298221 rs1569546880 |
191 | E>V | No |
ClinGen Ensembl |
|
|
rs1318752953 CA413298198 |
194 | L>P | No |
ClinGen gnomAD |
|
|
COSM257711 CA413298185 rs1253259797 |
196 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs775433301 CA10427775 |
197 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780499830 CA328954880 |
200 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA413298153 rs1302348868 |
201 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA413298136 rs1449750008 |
203 | N>S | No |
ClinGen TOPMed |
|
|
CA328954875 rs1016412044 |
204 | Y>D | No |
ClinGen Ensembl |
|
|
rs1470495289 CA413298122 |
205 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1369378953 CA413298120 |
205 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774408939 CA10427772 |
206 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs759529269 CA10427773 |
206 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460097374 CA413298101 |
208 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA413298105 rs1169267973 |
208 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413298030 rs1172922955 |
216 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA413298010 rs1470438805 |
219 | K>R | No |
ClinGen gnomAD |
|
|
CA10427756 rs774321022 |
222 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10427755 rs774321022 |
222 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10427753 rs763051175 |
223 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1123569 CA10427752 rs769684822 |
226 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769919634 CA10427751 |
226 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413297951 rs1241328281 |
228 | M>I | No |
ClinGen gnomAD |
|
|
CA10427750 rs748456222 |
228 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1484895180 CA413297954 |
228 | M>L | No |
ClinGen gnomAD |
|
|
rs1214614398 CA413297935 |
230 | N>K | No |
ClinGen TOPMed |
|
|
CA413297938 rs1353416853 |
230 | N>S | No |
ClinGen gnomAD |
|
|
CA328950535 rs369550583 |
231 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA413297931 rs1236223334 |
231 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA413297933 rs1236223334 |
231 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10427749 rs199630999 |
232 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA328950531 rs997697891 |
234 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA413297913 rs997697891 |
234 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1313106902 CA413297917 |
234 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413297897 rs1373255410 |
236 | I>T | No |
ClinGen gnomAD |
|
|
CA10427748 rs769195741 |
239 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs780740994 CA10427746 |
239 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780740994 CA10427747 |
239 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410012097 CA413297871 |
240 | T>I | No |
ClinGen gnomAD |
|
|
CA413297851 rs1381855192 |
243 | Y>C | No |
ClinGen TOPMed |
|
|
CA10427744 rs143062179 |
245 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469666598 CA413297815 |
248 | H>R | No |
ClinGen gnomAD |
|
|
CA10427743 rs56031427 |
249 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs777399343 CA10427742 |
252 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10427741 rs761648445 |
252 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413297788 rs1449144916 |
253 | S>A | No |
ClinGen gnomAD |
|
|
rs146369182 CA10427740 |
254 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1401160015 CA413297768 |
256 | L>F | No |
ClinGen gnomAD |
|
|
rs1401160015 CA413297770 |
256 | L>I | No |
ClinGen gnomAD |
|
|
rs1349313159 CA413297757 |
257 | C>W | No |
ClinGen gnomAD |
|
|
CA413297755 rs1379500249 |
258 | R>* | No |
ClinGen TOPMed |
|
|
CA10427739 rs767193275 |
258 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413297744 rs1234598701 |
260 | G>S | No |
ClinGen gnomAD |
|
|
rs751457409 CA10427737 |
261 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413297736 rs1287698653 |
261 | E>G | No |
ClinGen TOPMed |
|
|
rs751457409 CA413297738 |
261 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 267 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346791348 CA413297681 |
268 | G>V | No |
ClinGen gnomAD |
|
|
rs762959184 CA10427735 |
269 | R>C | Variant assessed as Somatic; 6.672e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376959812 CA10427734 |
269 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413297675 rs1459960270 |
270 | I>V | No |
ClinGen gnomAD |
|
|
CA10427732 rs143311323 |
271 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413297644 rs1476590540 |
275 | G>S | No |
ClinGen gnomAD |
|
|
COSM1123567 CA10427731 rs201795827 |
279 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10427729 rs747386480 |
279 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10427730 rs747386480 |
279 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413297620 rs201795827 |
279 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10427727 rs149578224 |
280 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10427726 rs149578224 |
280 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413297614 rs1319186398 |
280 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs958005204 CA328949116 |
283 | Y>* | No |
ClinGen TOPMed |
|
|
rs1602185887 CA413297541 |
289 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 295 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1019880075 CA328949113 |
295 | G>V | No |
ClinGen Ensembl |
|
|
CA10427714 rs750412089 |
297 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1349023697 CA413297444 |
301 | V>M | No |
ClinGen gnomAD |
|
|
rs183245021 CA10427712 |
302 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1352931712 CA413297408 |
303 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1352931712 CA413297410 |
303 | T>P | No |
ClinGen gnomAD |
|
|
rs1042227 CA328949081 |
305 | H>R | No |
ClinGen Ensembl |
|
|
CA10427711 rs753943938 |
306 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1397349463 CA413297292 |
311 | Q>E | No |
ClinGen gnomAD |
|
|
CA10427709 rs780371848 |
311 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10427710 rs780371848 |
311 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454178195 CA413297258 |
313 | A>P | No |
ClinGen gnomAD |
|
|
rs775994554 CA10427708 |
314 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs772606130 CA10427706 |
320 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413297191 rs1333834571 |
321 | E>D | No |
ClinGen TOPMed |
|
|
rs759937599 CA10427705 |
326 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569546754 CA413297105 |
327 | N>S | No |
ClinGen Ensembl |
|
|
rs774942418 CA10427704 |
327 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA328948996 COSM326124 rs956391574 |
329 | I>F | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1282123545 CA413297067 |
329 | I>T | No |
ClinGen gnomAD |
|
|
rs147029348 CA10427702 |
331 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10427688 rs753018383 |
333 | V>F | No |
ClinGen ExAC |
|
|
CA10427686 rs759975430 COSM757987 |
334 | C>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs967146302 CA328947369 |
337 | M>I | No |
ClinGen Ensembl |
|
|
CA10427683 rs763425189 |
347 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10427684 COSM1468738 rs771482577 |
347 | P>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs374547963 CA10427682 |
350 | F>Y | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 351 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357568698 CA413296238 |
352 | L>P | No |
ClinGen gnomAD |
|
|
rs200225578 CA328947350 |
352 | L>V | No |
ClinGen Ensembl |
|
|
CA10427681 rs368782445 |
353 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1123565 CA10427680 rs759599398 |
353 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA413296226 rs1569546712 |
354 | D>E | No |
ClinGen Ensembl |
|
|
rs1409317803 CA413296223 |
355 | Q>* | No |
ClinGen TOPMed |
|
|
rs775158265 CA10427679 |
357 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs201921095 CA328947324 |
358 | Y>H | No |
ClinGen Ensembl |
|
|
COSM273100 CA10427678 rs771700798 |
359 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs370865554 CA10427677 |
359 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1392212560 CA413296179 |
361 | R>H | No |
ClinGen TOPMed |
|
|
CA10427676 rs774242075 |
363 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413296156 rs1157720743 |
365 | G>R | No |
ClinGen gnomAD |
|
|
rs745575470 CA10427658 |
367 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774164699 CA10427657 |
368 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA413294889 rs1373297950 |
371 | L>M | No |
ClinGen gnomAD |
|
|
rs1001255153 CA328942025 |
371 | L>P | No |
ClinGen TOPMed |
|
|
rs981461647 CA328942019 |
372 | V>L | No |
ClinGen Ensembl |
|
|
rs899872635 CA328942013 |
373 | Q>* | No |
ClinGen TOPMed |
|
|
CA10427656 rs368958510 |
374 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1222639575 CA413294873 |
374 | R>S | No |
ClinGen TOPMed |
|
|
CA10427654 rs777882733 |
375 | L>Q | No |
ClinGen ExAC |
|
|
rs1247303595 CA413294854 |
377 | P>A | No |
ClinGen gnomAD |
|
|
rs776503507 CA10427653 |
381 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10427652 rs377564103 |
382 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373419320 CA10427649 |
384 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766741308 CA10427648 |
385 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs752742853 CA328941956 |
385 | Q>P | No |
ClinGen Ensembl |
|
|
CA413294795 rs1253332156 |
386 | E>G | No |
ClinGen gnomAD |
|
|
rs758781475 CA10427647 |
387 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA10427645 rs762369271 |
393 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA413294728 rs1231533779 |
393 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs200786691 CA10427643 |
394 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766976938 CA10427642 |
397 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10427640 rs150980930 |
398 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10427641 rs140853589 |
398 | R>W | Variant assessed as Somatic; 0.0007532 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1396715748 CA413294579 |
402 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 402 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865998447 CA328941919 |
402 | A>S | No |
ClinGen Ensembl |
|
|
rs1396715748 CA413294575 |
402 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10427639 rs142567584 |
403 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10427638 rs148416501 |
405 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773225724 CA10427637 |
406 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA413294494 rs1174038442 |
407 | K>N | No |
ClinGen gnomAD |
|
|
CA413294489 rs1455491011 |
408 | S>G | No |
ClinGen gnomAD |
|
|
rs146672025 CA10427636 |
408 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369577573 CA413294251 |
411 | E>K | No |
ClinGen gnomAD |
|
|
rs1313213154 CA413294229 |
412 | L>F | No |
ClinGen gnomAD |
|
|
rs866879766 CA328940772 |
413 | P>S | No |
ClinGen Ensembl |
|
|
rs1399942818 CA413294134 |
420 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA328940743 rs1009563843 |
429 | A>T | No |
ClinGen gnomAD |
|
|
rs750333012 CA10427622 |
430 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750333012 CA10427623 |
430 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 430 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413293301 rs1159470533 |
431 | G>D | No |
ClinGen TOPMed |
|
|
rs1423228745 CA413293282 |
433 | K>E | No |
ClinGen TOPMed |
|
|
CA328940386 rs774997599 |
434 | V>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 435 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866461519 CA328940363 |
442 | E>K | No |
ClinGen Ensembl |
|
|
CA10427607 rs201730176 |
444 | V>M | Variant assessed as Somatic; 6.252e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs751020074 CA10427606 |
448 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762376817 CA328940359 |
448 | R>W | No |
ClinGen Ensembl |
|
|
rs774588232 CA10427592 |
455 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746042228 CA10427593 |
455 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA10427591 rs771262197 |
456 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA328940052 COSM1468737 rs934661751 |
458 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1225601455 CA413292766 |
458 | R>W | No |
ClinGen TOPMed |
|
|
COSM3800681 CA413292755 rs1288738705 |
459 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA413292740 rs1214907005 |
460 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413292655 rs1277580022 |
467 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA413292615 rs1227495277 |
469 | A>G | No |
ClinGen gnomAD |
|
|
rs749625958 CA10427590 |
469 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 472 | Y>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P16118
No regional properties for P16118
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P16118 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.105 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex | A homodimeric, bifunctional enzyme complex which catalyzes the synthesis and degradation of fructose 2,6-bisphosphate, and is required for both glycolysis and gluconeogenesis. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 6-phosphofructo-2-kinase activity | Catalysis of the reaction: beta-D-fructose 6-phosphate + ATP = beta-D-fructose 2,6-bisphosphate + ADP + 2 H(+). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| fructose-2,6-bisphosphate 2-phosphatase activity | Catalysis of the reaction: D-fructose 2,6-bisphosphate + H2O = D-fructose-6-phosphate + phosphate. |
| fructose-6-phosphate binding | Binding to fructose 6-phosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ regeneration | The regrowth of a lost or destroyed animal organ. |
| fructose 2,6-bisphosphate metabolic process | The chemical reactions and pathways involving fructose 2,6-bisphosphate. The D enantiomer is an important regulator of the glycolytic and gluconeogenic pathways. It inhibits fructose 1,6-bisphosphatase and activates phosphofructokinase. |
| fructose metabolic process | The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. |
| gluconeogenesis | The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. |
| glycolytic process | The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. |
| positive regulation of glucokinase activity | Any process that activates or increases the frequency, rate or extent of glucokinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a glucose molecule. |
| response to cAMP | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| response to glucagon | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. |
| response to glucocorticoid | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. |
| response to insulin | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| response to starvation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a starvation stimulus, deprivation of nourishment. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32604 | FBP26 | Fructose-2,6-bisphosphatase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P26285 | PFKFB2 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 | Bos taurus (Bovine) | PR |
| P49872 | PFKFB1 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 | Bos taurus (Bovine) | PR |
| O60825 | PFKFB2 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 | Homo sapiens (Human) | PR |
| Q16877 | PFKFB4 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 | Homo sapiens (Human) | PR |
| Q16875 | PFKFB3 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 | Homo sapiens (Human) | PR |
| P70265 | Pfkfb2 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 | Mus musculus (Mouse) | PR |
| Q6DTY7 | Pfkfb4 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 | Mus musculus (Mouse) | PR |
| P70266 | Pfkfb1 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 | Mus musculus (Mouse) | PR |
| O35552 | Pfkfb3 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 | Rattus norvegicus (Rat) | PR |
| P25114 | Pfkfb4 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 | Rattus norvegicus (Rat) | PR |
| Q9JJH5 | Pfkfb2 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 | Rattus norvegicus (Rat) | PR |
| P07953 | Pfkfb1 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSPEMGELTQ | TRLQKIWIPH | SSGSSRLQRR | RGSSIPQFTN | SPTMVIMVGL | PARGKTYIST |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KLTRYLNWIG | TPTKVFNLGQ | YRREAVSYKN | YEFFLPDNME | ALQIRKQCAL | AALKDVHNYL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SHEEGHVAVF | DATNTTRERR | SLILQFAKEH | GYKVFFIESI | CNDPGIIAEN | IRQVKLGSPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YIDCDREKVL | EDFLKRIECY | EVNYQPLDEE | LDSHLSYIKI | FDVGTRYMVN | RVQDHIQSRT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VYYLMNIHVT | PRSIYLCRHG | ESELNIRGRI | GGDSGLSVRG | KQYAYALANF | IQSQGISSLK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VWTSHMKRTI | QTAEALGVPY | EQWKALNEID | AGVCEEMTYE | EIQEHYPEEF | ALRDQDKYRY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RYPKGESYED | LVQRLEPVIM | ELERQENVLV | ICHQAVMRCL | LAYFLDKSSD | ELPYLKCPLH |
| 430 | 440 | 450 | 460 | 470 | |
| TVLKLTPVAY | GCKVESIYLN | VEAVNTHREK | PENVDITREP | EEALDTVPAH | Y |