Q9H773
Gene name |
DCTPP1 |
Protein name |
dCTP pyrophosphatase 1 |
Names |
Deoxycytidine-triphosphatase 1, dCTPase 1, RS21C6, XTP3-transactivated gene A protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79077 |
EC number |
3.6.1.12: In phosphorus-containing anhydrides |
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 Q9H773
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MU5 | X-ray | 220 A | A/B/C/D/E/F/G/H | 21-130 | PDB |
| AF-Q9H773-F1 | Predicted | AlphaFoldDB |
153 variants for Q9H773
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8005744 rs754320814 |
2 | S>F | No |
ClinGen ExAC TOPMed |
|
|
rs764625693 CA8005743 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs202172957 CA8005741 |
5 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200319978 CA8005739 |
6 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378308334 CA395596826 |
6 | G>R | No |
ClinGen gnomAD |
|
|
rs773060140 CA280509701 |
8 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773060140 CA8005738 |
8 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395596759 rs1319311823 |
9 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8005736 rs761452897 |
11 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8005735 rs776316015 |
12 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395596703 rs1161700941 |
12 | T>M | No |
ClinGen gnomAD |
|
|
CA395596694 rs543674443 |
13 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543674443 CA395596689 |
13 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8005732 rs201197422 CA8005733 |
13 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543674443 CA8005730 |
13 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201197422 CA8005731 |
13 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs977028957 CA395596676 |
14 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM184995 CA395596673 rs1246195315 |
14 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs977028957 CA280509662 |
14 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA280509657 rs965450062 |
15 | E>A | No |
ClinGen TOPMed |
|
|
CA395596621 rs1219103702 |
16 | D>E | No |
ClinGen gnomAD |
|
|
CA395596633 rs1270297565 |
16 | D>N | No |
ClinGen gnomAD |
|
|
rs757295928 CA8005728 |
17 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8005727 rs749322219 |
18 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs753147370 CA8005725 |
19 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8005726 rs777848541 |
19 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs753147370 CA8005724 |
19 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395596553 rs1435252347 |
20 | P>S | No |
ClinGen gnomAD |
|
|
CA395596525 rs369621327 |
22 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369621327 CA8005722 |
22 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8005723 rs781610165 |
22 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA395596514 rs1597039479 |
23 | F>V | No |
ClinGen Ensembl |
|
|
rs1434474683 CA395596487 |
24 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395596425 rs1165933243 |
27 | P>L | No |
ClinGen gnomAD |
|
|
rs1165933243 CA395596426 |
27 | P>R | No |
ClinGen gnomAD |
|
|
rs1334334770 CA395596408 |
29 | P>A | No |
ClinGen TOPMed |
|
|
rs761580953 CA8005718 |
29 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761580953 CA8005719 |
29 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs753342612 CA8005716 |
32 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA395596330 rs1189635625 |
34 | I>V | No |
ClinGen gnomAD |
|
|
CA8005696 rs753614679 |
35 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395595717 rs1287281200 |
35 | R>H | No |
ClinGen TOPMed |
|
|
rs897492409 CA280509219 |
36 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs760150137 CA8005694 |
39 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8005693 rs752645482 |
39 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1399291233 CA395595633 |
40 | E>V | No |
ClinGen gnomAD |
|
|
CA8005691 rs759492520 |
43 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8005692 rs759492520 |
43 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395595570 rs1405225469 |
44 | E>* | No |
ClinGen Ensembl |
|
|
CA8005688 rs763156020 |
44 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8005687 rs773357649 |
47 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA395595445 rs1567445829 |
50 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 50 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8005681 rs747527404 |
54 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA395595374 rs780565157 |
54 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8005680 rs780565157 |
54 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747527404 CA8005682 COSM293122 |
54 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA395595271 rs1328087150 |
61 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA395595259 rs1229452964 |
62 | G>E | No |
ClinGen gnomAD |
|
|
rs1311298276 CA395595251 |
63 | E>K | No |
ClinGen gnomAD |
|
|
rs200511564 CA8005675 |
65 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551316027 CA8005674 |
66 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1471062237 CA395595151 |
70 | L>I | No |
ClinGen gnomAD |
|
|
rs1376450766 CA395595134 |
71 | F>L | No |
ClinGen gnomAD |
|
|
CA8005639 rs760875327 |
71 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8005672 rs754842539 |
71 | F>S | No |
ClinGen ExAC TOPMed |
|
|
rs775739171 CA8005638 |
74 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA395594243 rs1490634992 |
75 | T>A | No |
ClinGen gnomAD |
|
|
CA280507369 rs546895092 |
76 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA8005637 rs374212967 |
80 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746395697 CA8005636 |
81 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8005634 rs771392941 |
82 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs902778856 CA280507352 |
83 | G>D | No |
ClinGen TOPMed |
|
|
rs1597036193 CA395594083 |
85 | S>C | No |
ClinGen Ensembl |
|
|
rs780869586 CA8005632 |
86 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8005629 rs779554157 |
88 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA395594025 rs1401049051 |
89 | R>Q | No |
ClinGen gnomAD |
|
|
CA8005627 rs150574437 |
89 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1172860792 CA395594003 |
90 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8005624 rs753978195 |
93 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371070247 CA8005625 |
93 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311936075 CA395593929 |
95 | E>* | No |
ClinGen TOPMed |
|
|
CA395593919 rs1234004932 |
95 | E>D | No |
ClinGen gnomAD |
|
|
rs1206708246 CA395593910 |
96 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 99 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8005622 rs368588932 |
99 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1567444359 CA395593824 |
101 | I>F | No |
ClinGen Ensembl |
|
|
CA395593804 rs1597036137 |
102 | Y>S | No |
ClinGen Ensembl |
|
|
CA8005621 rs752763022 |
104 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199517315 CA8005620 |
109 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549109262 CA8005619 |
109 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8005618 rs143083714 |
111 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8005616 rs373815836 |
111 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 111 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8005615 rs771175722 |
112 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8005613 rs773589795 |
113 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8005614 rs370140300 |
113 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376877902 CA8005612 |
115 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746669962 CA8005611 COSM122527 |
115 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771674751 CA8005609 |
116 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs961928311 CA280507295 |
118 | V>A | No |
ClinGen Ensembl |
|
|
rs778952081 CA8005607 |
119 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753635115 CA8005605 |
122 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8005604 rs777720974 |
123 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1401805447 CA395593478 |
125 | N>D | No |
ClinGen TOPMed |
|
|
CA8005601 rs767691169 |
126 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753034750 CA8005602 |
126 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8005600 rs544521264 |
127 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8005599 rs751978200 |
127 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1014862414 CA280507277 |
128 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766861882 CA8005598 |
128 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1315109042 CA395593420 |
129 | Y>F | No |
ClinGen gnomAD |
|
|
CA395593429 rs1378378183 |
129 | Y>H | No |
ClinGen gnomAD |
|
|
rs1362573471 CA395593395 |
131 | A>P | No |
ClinGen gnomAD |
|
|
CA280507268 rs1010468456 |
135 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395593347 rs1010468456 |
135 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs985136446 CA8005596 |
135 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs985136446 CA395593344 |
135 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8005595 rs372874656 |
137 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs951901812 CA280507261 |
137 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8005594 rs147236122 |
139 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8005592 rs143856356 |
139 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8005591 rs143856356 |
139 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143856356 CA8005593 |
139 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1446593643 CA395593319 |
140 | K>R | No |
ClinGen gnomAD |
|
|
CA8005589 rs148153979 |
141 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8005590 rs148153979 |
141 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8005587 rs770841070 |
142 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8005588 rs770841070 |
142 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA395593259 rs1243582830 |
145 | P>L | No |
ClinGen gnomAD |
|
|
CA8005585 rs777702703 |
146 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395593247 rs1219167590 |
146 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1247513963 CA395593211 |
148 | A>G | No |
ClinGen gnomAD |
|
|
CA8005583 rs748357337 |
150 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 151 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395593150 rs1296228600 |
153 | Q>E | No |
ClinGen gnomAD |
|
|
CA280507219 rs372655566 |
153 | Q>R | No |
ClinGen Ensembl |
|
|
rs1214750105 CA395593126 |
154 | A>V | No |
ClinGen gnomAD |
|
|
rs780559590 CA280507213 |
155 | V>M | No |
ClinGen gnomAD |
|
|
rs146094440 CA8005582 |
156 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149017773 CA8005581 |
158 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395593051 rs1304343543 |
159 | D>E | No |
ClinGen gnomAD |
|
|
rs1346504633 CA395593012 |
162 | C>Y | No |
ClinGen TOPMed |
|
|
rs758941195 CA8005578 |
165 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750990261 CA8005577 |
166 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs11541539 CA280507198 |
166 | G>R | No |
ClinGen Ensembl |
|
|
CA395592968 rs1429313087 |
168 | T>I | No |
ClinGen gnomAD |
|
|
rs201992231 CA8005575 |
169 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777014870 CA8005574 |
171 | T>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9H773
No regional properties for Q9H773
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H773 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.1.12 | In phosphorus-containing anhydrides |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| dCTP diphosphatase activity | Catalysis of the reaction: dCTP + H2O = dCMP + H+ + diphosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| nucleoside triphosphate diphosphatase activity | Catalysis of the reaction: a nucleoside triphosphate + H2O = a nucleotide + H+ + diphosphate. |
| pyrimidine deoxyribonucleotide binding | Binding to a pyrimidine deoxyribonucleotide, any compound consisting of a pyrimidine deoxyribonucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the deoxyribose moiety. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| dCTP catabolic process | The chemical reactions and pathways resulting in the breakdown of dCTP, deoxycytidine triphosphate. |
| DNA protection | Any process in which DNA is protected from damage by, for example, oxidative stress. |
| nucleoside triphosphate catabolic process | The chemical reactions and pathways resulting in the breakdown of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSVAGGEIRG | DTGGEDTAAP | GRFSFSPEPT | LEDIRRLHAE | FAAERDWEQF | HQPRNLLLAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VGEVGELAEL | FQWKTDGEPG | PQGWSPRERA | ALQEELSDVL | IYLVALAARC | RVDLPLAVLS |
| 130 | 140 | 150 | 160 | ||
| KMDINRRRYP | AHLARSSSRK | YTELPHGAIS | EDQAVGPADI | PCDSTGQTST |