P49585
SS
Gene name |
PCYT1A (CTPCT, PCYT1) |
Protein name |
Choline-phosphate cytidylyltransferase A |
Names |
EC 2.7.7.15 , CCT-alpha , CTP:phosphocholine cytidylyltransferase A , CCT A , CT A , Phosphorylcholine transferase A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5130 |
EC number |
2.7.7.15: Nucleotidyltransferases |
Protein Class |
|
Descriptions
Phosphocholine cytidylyltransferase (CCT) interconverts between an inactive soluble and active membrane-bound form in response to changes in membrane lipid composition. Activation involves disruption of an inhibitory interaction between the alphaE helices at the base of the active site and an autoinhibitory (AI) segment in the regulatory M domain and membrane insertion of the M domain as an amphipathic helix.
Autoinhibitory domains (AIDs)
Target domain |
202-223 (alphaE helices within the catalytic domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P49585
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P49585-F1 | Predicted | AlphaFoldDB |
355 variants for P49585
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs149559427 RCV001316146 RCV003284180 |
5 | C>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs746866627 RCV002050033 RCV003346705 |
18 | A>V | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1041304990 RCV002561456 RCV001960137 |
19 | P>L | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001929236 RCV002491944 rs749118491 |
30 | V>I | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
VAR_071083 rs587777191 RCV000087316 CA214463 |
99 | A>T | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome SMDCRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM4116379 rs587777189 RCV002515781 VAR_071084 CA214461 RCV000087314 RCV000622339 |
99 | A>V | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases SMDCRD [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001229420 RCV001329355 rs375791987 |
109 | I>V | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_071085 rs587777194 RCV000087320 CA214468 |
129 | E>K | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome SMDCRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001335224 RCV001430545 rs760919068 |
130 | N>S | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_071086 rs587777190 RCV000087315 RCV001854510 CA214462 |
150 | P>A | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome SMDCRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1577358031 RCV001199491 RCV000998195 |
157 | F>L | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs587777195 VAR_071087 CA214469 RCV000087321 |
191 | F>L | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome SMDCRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000087319 rs540053239 CA214467 VAR_071088 |
223 | R>S | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome SMDCRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs771425372 RCV003493842 RCV001300997 |
280 | E>missing | Lipodystrophy, congenital generalized, type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002514539 CA214464 RCV000087317 rs587777192 |
283 | R>* | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001335225 rs1724289595 |
284 | E>* | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000087322 CA214470 rs587777196 RCV001090772 |
323 | S>missing | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002546197 rs549056100 COSM3408547 RCV001326757 |
326 | R>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001983380 rs1222327977 RCV003250353 |
330 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA214466 rs587777193 RCV001233915 RCV000087318 |
331 | S>missing | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs757164118 RCV003493822 RCV001212113 |
333 | S>missing | Lipodystrophy, congenital generalized, type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003363081 rs369326424 RCV001053612 |
348 | P>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001962546 rs1724251301 RCV002484660 |
368 | D>S | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
| rs1289492978 | 2 | D>A | No |
TOPMed gnomAD |
|
| TCGA novel | 2 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765878411 | 3 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1725400368 | 4 | Q>H | No | Ensembl | |
| rs772648306 | 4 | Q>R | No |
ExAC gnomAD |
|
| rs374200334 | 5 | C>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs374200334 | 5 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs2108777788 | 6 | S>P | No | Ensembl | |
| rs1725399543 | 11 | A>E | No | gnomAD | |
| rs1292608628 | 11 | A>S | No | gnomAD | |
|
RCV001983098 rs2108777776 |
15 | R>* | No |
ClinVar Ensembl dbSNP |
|
| rs781198337 | 15 | R>T | No |
ExAC gnomAD |
|
| rs1315588404 | 16 | K>E | No | gnomAD | |
| rs768525820 | 16 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1338129212 | 17 | E>G | No |
TOPMed gnomAD |
|
| rs1725398580 | 19 | P>A | No | TOPMed | |
|
rs142952629 RCV000899821 |
20 | G>R | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000521748 rs762145853 CA2779660 |
21 | P>missing | No |
ClinGen ClinVar dbSNP |
|
|
rs150416628 RCV001957491 |
21 | P>S | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs150416628 | 21 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs753801861 | 22 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1309199348 | 23 | G>E | No |
TOPMed gnomAD |
|
| rs756683597 | 23 | G>R | No |
ExAC gnomAD |
|
|
rs200752223 RCV001956752 |
25 | T>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1725397145 | 26 | E>G | No | Ensembl | |
| rs2108777731 | 27 | E>* | No | Ensembl | |
|
RCV002051511 rs2108777729 |
28 | D>G | No |
ClinVar Ensembl dbSNP |
|
|
rs371965700 RCV001944079 |
29 | G>R | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs749118491 | 30 | V>F | No |
TOPMed gnomAD |
|
|
COSM1043017 rs866650732 |
31 | P>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs897503443 | 33 | K>R | No |
TOPMed gnomAD |
|
| rs1036001219 | 34 | V>M | No |
TOPMed gnomAD |
|
|
RCV001393808 rs181492393 |
36 | R>C | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV001974521 rs772948955 |
36 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs772948955 | 36 | R>L | No |
ExAC TOPMed gnomAD |
|
| COSM256204 | 37 | C>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs556753084 | 37 | C>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs761404113 | 38 | A>T | No |
ExAC gnomAD |
|
|
rs1227619597 COSM317859 |
39 | V>L | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs1274235817 | 40 | G>D | No | gnomAD | |
|
RCV002017138 rs771223117 |
42 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs142165028 RCV001465785 |
42 | R>W | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs373774305 | 44 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001966336 rs373774305 |
44 | P>R | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs2108771793 RCV001903032 |
44 | P>S | No |
ClinVar Ensembl dbSNP |
|
| rs770025140 | 45 | A>S | No |
ExAC gnomAD |
|
|
RCV001242533 rs781768969 |
46 | P>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs748171719 | 46 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1038475192 | 47 | F>L | No | TOPMed | |
| rs753505466 | 47 | F>S | No | Ensembl | |
| rs777509855 | 48 | S>C | No |
ExAC gnomAD |
|
| rs1355304743 | 49 | D>G | No | gnomAD | |
| COSM3591856 | 49 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752031936 | 50 | E>K | No |
ExAC gnomAD |
|
| rs780253017 | 51 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1466833415 | 54 | D>A | No | gnomAD | |
| rs1466833415 | 54 | D>G | No | gnomAD | |
| rs2108771767 | 56 | S>I | No | Ensembl | |
| rs1388282947 | 57 | K>N | No | gnomAD | |
| rs1724993666 | 58 | P>S | No | Ensembl | |
| rs370657415 | 59 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV002015665 rs561949003 |
59 | Y>C | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs561949003 | 59 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs561949003 RCV002018699 |
59 | Y>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs760187621 | 61 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1724993122 | 62 | V>I | No | Ensembl | |
| rs1481436343 | 63 | T>S | No | gnomAD | |
| rs1724992775 | 64 | M>T | No | gnomAD | |
| rs752190012 | 64 | M>V | No |
ExAC TOPMed gnomAD |
|
|
rs1482237707 RCV001314457 |
65 | E>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1210245046 | 65 | E>K | No |
TOPMed gnomAD |
|
| rs767556887 | 66 | E>D | No |
ExAC gnomAD |
|
| rs759359405 | 67 | A>D | No |
ExAC TOPMed gnomAD |
|
|
rs759359405 RCV001881010 |
67 | A>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM4116381 | 68 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770656499 | 71 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs770656499 | 71 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1724991719 | 72 | P>L | No | Ensembl | |
| rs199961207 | 72 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs773573877 | 73 | C>G | No |
ExAC TOPMed gnomAD |
|
|
rs1285004802 RCV001380961 |
75 | R>* | No |
ClinVar dbSNP gnomAD |
|
|
rs369594442 RCV001069797 |
75 | R>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1724634145 | 76 | P>T | No | TOPMed | |
| rs1724634050 | 77 | V>A | No | gnomAD | |
| rs1237888354 | 78 | R>T | No |
TOPMed gnomAD |
|
|
rs759039449 RCV001317958 |
79 | V>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs759039449 | 79 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs868610354 | 81 | A>V | No | Ensembl | |
| rs1422778013 | 82 | D>E | No |
TOPMed gnomAD |
|
| rs1724633133 | 82 | D>G | No | Ensembl | |
| COSM4116380 | 82 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1454902800 | 82 | D>Y | No | gnomAD | |
| rs1162073603 | 87 | L>* | No | Ensembl | |
| rs1157763363 | 87 | L>F | No |
TOPMed gnomAD |
|
| rs1724632730 | 88 | F>L | No | TOPMed | |
|
rs1455352648 COSM3591855 |
89 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1160679788 | 90 | S>P | No | gnomAD | |
| rs1003483302 | 91 | G>D | No |
TOPMed gnomAD |
|
|
rs938675798 COSM4923011 |
93 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs938675798 | 93 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs773131861 RCV001893729 |
94 | R>* | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs773131861 | 94 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1724631718 | 94 | R>Q | No | Ensembl | |
| rs566752063 | 95 | A>G | No | 1000Genomes | |
| rs1724631061 | 100 | K>N | No | Ensembl | |
|
rs1724631159 RCV001346416 |
100 | K>R | No |
ClinVar Ensembl dbSNP |
|
| rs776823706 | 101 | N>K | No |
ExAC gnomAD |
|
|
COSM4116378 rs1724630963 |
101 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
|
rs2108766509 RCV002024207 |
102 | L>V | No |
ClinVar Ensembl dbSNP |
|
| rs939839175 | 106 | T>M | No | TOPMed | |
| rs1724630363 | 108 | L>F | No | TOPMed | |
| rs1442385114 | 114 | S>I | No | TOPMed | |
| rs1433265727 | 114 | S>R | No |
TOPMed gnomAD |
|
| rs1442385114 | 114 | S>T | No | TOPMed | |
|
RCV001961627 rs758461951 |
119 | H>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 121 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1365763649 | 121 | F>L | No | gnomAD | |
|
RCV002011732 rs1235010313 |
122 | K>R | No |
ClinVar TOPMed dbSNP |
|
|
RCV000412999 CA2779543 rs765196598 |
125 | T>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs1271221173 | 127 | M>I | No | TOPMed | |
| rs201068098 | 128 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs587777194 | 129 | E>Q | No | Ensembl | |
| rs772473697 | 132 | R>C | No |
ExAC gnomAD |
|
|
rs1205319354 RCV001058266 |
132 | R>H | No |
ClinVar TOPMed dbSNP gnomAD |
|
| COSM1043015 | 132 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767604749 | 133 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1724605985 | 133 | Y>H | No | TOPMed | |
| TCGA novel | 135 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001931912 rs1724605639 |
135 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs759570486 | 135 | A>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1724605252 | 137 | Q>R | No | gnomAD | |
| rs1577358081 | 138 | H>P | No | Ensembl | |
|
RCV001295416 COSM4116377 rs771371499 |
140 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs771371499 | 140 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1398190721 | 142 | V>M | No | TOPMed | |
| rs765631932 | 147 | R>K | No | TOPMed | |
| rs1724604081 | 149 | A>E | No | Ensembl | |
|
COSM2947261 RCV001900148 rs1724604081 |
149 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
| rs1560164775 | 150 | P>L | No | Ensembl | |
| rs746655391 | 152 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs746655391 | 152 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1243780999 | 153 | L>R | No | gnomAD | |
| COSM276683 | 154 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1293887137 | 155 | P>L | No |
TOPMed gnomAD |
|
| rs771742784 | 155 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs779048770 | 156 | E>K | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | L>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001308923 rs757210925 |
159 | A>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1271650484 | 159 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs755814954 | 160 | E>G | No | ExAC | |
|
rs140290837 RCV000894730 |
160 | E>K | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs140290837 RCV001888274 |
160 | E>Q | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1279839195 | 161 | H>L | No | TOPMed | |
| rs200813228 | 162 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM4116376 rs375663930 RCV001932026 |
162 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs750339641 | 165 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs888459030 | 166 | V>I | No | Ensembl | |
| rs1724393486 | 167 | A>G | No | gnomAD | |
| rs1048928237 | 169 | D>N | No | Ensembl | |
| TCGA novel | 170 | D>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 170 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001921598 rs1413468878 |
172 | P>missing | No |
ClinVar dbSNP |
|
| COSM3408548 | 173 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1724393137 | 173 | Y>C | No | TOPMed | |
| COSM460823 | 174 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778531532 | 175 | S>T | No |
ExAC gnomAD |
|
| rs1724392844 | 175 | S>Y | No | TOPMed | |
| rs770821991 | 176 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1391986278 | 177 | G>S | No | gnomAD | |
| rs749270094 | 178 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs777529998 | 179 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs777529998 | 179 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1724392344 | 181 | V>A | No | TOPMed | |
| rs1724392247 | 182 | Y>D | No | TOPMed | |
| rs1724392142 | 185 | I>F | No | TOPMed | |
|
rs773571578 RCV001372165 |
186 | K>E | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1724375638 | 190 | M>I | No | Ensembl | |
| COSM3591853 | 194 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1408929771 | 195 | Q>* | No |
TOPMed gnomAD |
|
|
rs187437949 COSM6097237 COSM583041 |
195 | Q>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs112500352 | 196 | R>G | No | Ensembl | |
| rs1724374826 | 198 | E>G | No | Ensembl | |
| rs1295174913 | 199 | G>D | No | gnomAD | |
| rs1189822613 | 200 | I>M | No |
TOPMed gnomAD |
|
| rs367857863 | 201 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1365448084 | 202 | T>A | No |
TOPMed gnomAD |
|
| rs1162129680 | 205 | I>V | No | gnomAD | |
| rs747258330 | 208 | R>* | No |
ExAC TOPMed gnomAD |
|
|
COSM5864190 rs867290911 |
208 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| COSM1485042 | 209 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1724373493 | 210 | V>G | No | TOPMed | |
| COSM3774841 | 211 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs758512237 RCV001886459 |
211 | R>W | No |
ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 212 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1172971 rs375261933 |
217 | A>V | Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM446258 | 218 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001909913 rs1330097122 |
219 | R>W | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1227589548 | 222 | Q>* | No | gnomAD | |
| rs2108762615 | 225 | Y>H | No | Ensembl | |
| rs113502094 | 230 | L>P | No | Ensembl | |
|
rs201929666 RCV000926119 |
236 | N>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs778480685 | 237 | E>* | No |
ExAC gnomAD |
|
| rs778480685 | 237 | E>K | No |
ExAC gnomAD |
|
| rs1724294379 | 242 | L>F | No | gnomAD | |
| rs866000697 | 244 | E>* | No | Ensembl | |
| rs1339129542 | 245 | R>S | No | TOPMed | |
| rs781390558 | 250 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1724293902 | 251 | K>E | No |
TOPMed gnomAD |
|
| rs1175113772 | 253 | V>E | No | Ensembl | |
| rs200025823 | 254 | K>E | No | 1000Genomes | |
| rs970788151 | 256 | V>A | No | Ensembl | |
| rs1724293435 | 256 | V>M | No | Ensembl | |
| rs1724293254 | 257 | E>D | No | Ensembl | |
| rs1724293159 | 258 | E>K | No | gnomAD | |
| rs913593005 | 259 | K>R | No | TOPMed | |
| COSM1043013 | 262 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2108761360 | 266 | K>N | No | Ensembl | |
|
RCV002010594 rs2108761356 |
267 | V>A | No |
ClinVar Ensembl dbSNP |
|
| rs750077469 | 267 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1724291820 | 269 | E>G | No |
TOPMed gnomAD |
|
| TCGA novel | 271 | S>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1156587499 | 272 | I>V | No | gnomAD | |
| rs753337043 | 274 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1724290886 | 276 | Q>* | No | TOPMed | |
| rs377634842 | 277 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1439542974 | 278 | W>R | No | gnomAD | |
| rs771425372 | 280 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1421985 | 281 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001313725 rs1282668916 |
283 | R>Q | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs775447503 | 284 | E>D | No | ExAC | |
| rs1173104415 | 286 | I>M | No |
TOPMed gnomAD |
|
|
rs759307632 RCV001908265 |
286 | I>T | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs771791109 | 286 | I>V | No |
ExAC gnomAD |
|
| rs1303263775 | 289 | F>S | No |
TOPMed gnomAD |
|
| rs1232207713 | 291 | E>Q | No |
TOPMed gnomAD |
|
| rs1367500129 | 294 | G>R | No | gnomAD | |
|
RCV001327533 rs774447329 |
295 | P>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs774447329 | 295 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs1376024004 | 299 | L>P | No | gnomAD | |
| rs1196236317 | 301 | H>L | No | Ensembl | |
| rs1724265379 | 302 | M>T | No | TOPMed | |
| rs539292115 | 306 | G>R | No |
1000Genomes TOPMed |
|
| COSM270718 | 306 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1577352201 | 307 | K>R | No | Ensembl | |
| rs1183286028 | 308 | G>D | No | gnomAD | |
|
RCV002035655 rs973487210 |
309 | R>P | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001367907 rs973487210 |
309 | R>Q | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs963356951 | 309 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs569728981 | 310 | M>V | No | Ensembl | |
| rs1240246373 | 312 | Q>* | No | gnomAD | |
| rs571188438 | 313 | A>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs773520771 RCV002028902 |
313 | A>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs571188438 RCV000917636 |
313 | A>V | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1367107619 | 314 | I>L | No | TOPMed | |
|
RCV001978857 rs1217573932 |
315 | S>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs1305786964 RCV001877425 |
315 | S>N | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001297318 rs1305786964 |
315 | S>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001959562 rs747402568 |
316 | P>L | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1229173418 | 316 | P>S | No | gnomAD | |
|
CA16042493 rs1057518600 RCV000414367 |
319 | S>missing | No |
ClinGen ClinVar dbSNP |
|
| rs751722689 | 319 | S>N | No | gnomAD | |
| rs183054905 | 320 | P>L | No |
1000Genomes ExAC gnomAD |
|
|
rs748967839 RCV001758002 |
320 | P>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1724261677 | 321 | S>R | No | TOPMed | |
| rs1166285887 | 322 | S>G | No | gnomAD | |
| rs1724261471 | 322 | S>N | No | Ensembl | |
|
RCV001229949 rs372957517 |
325 | T>A | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1724260866 | 325 | T>I | No | Ensembl | |
|
rs766301243 RCV001230998 |
326 | R>C | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs766301243 | 326 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs549056100 | 326 | R>L | No |
1000Genomes TOPMed gnomAD |
|
| rs549056100 | 326 | R>P | No |
1000Genomes TOPMed gnomAD |
|
|
RCV001045501 rs144403921 |
327 | E>K | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs144403921 | 327 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61737437 RCV001918007 |
328 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs61737437 | 328 | R>G | No |
ExAC TOPMed gnomAD |
|
|
RCV001038303 rs199831548 |
328 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs942376027 | 329 | S>C | No | Ensembl | |
| rs1479942890 | 329 | S>P | No |
TOPMed gnomAD |
|
|
RCV001446692 rs551412906 |
330 | P>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs374831064 | 331 | S>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs200703149 | 332 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1553828215 | 333 | S>P | No | Ensembl | |
|
RCV002047933 rs551199725 |
335 | R>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001322374 rs754397679 |
335 | R>P | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs754397679 RCV001240721 |
335 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs751579909 | 336 | W>* | No |
ExAC TOPMed gnomAD |
|
|
rs1724257323 RCV001211381 |
336 | W>R | No |
ClinVar Ensembl dbSNP |
|
| rs148500335 | 337 | P>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001034172 rs148500335 |
337 | P>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs148500335 | 337 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001057578 rs142799242 |
337 | P>S | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001352004 rs1323417474 |
338 | F>missing | No |
ClinVar dbSNP |
|
| rs1724256398 | 338 | F>L | No | Ensembl | |
| rs146337013 | 340 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1724255992 | 340 | G>D | No |
TOPMed gnomAD |
|
|
rs146337013 RCV002047344 |
340 | G>S | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1724255783 | 342 | T>A | No | Ensembl | |
| rs775986884 | 344 | P>L | No |
ExAC TOPMed gnomAD |
|
|
RCV001350806 rs1724255459 |
344 | P>S | No |
ClinVar Ensembl dbSNP |
|
| rs772551986 | 346 | C>R | No |
ExAC gnomAD |
|
| rs1468052548 | 346 | C>Y | No | gnomAD | |
| rs759958810 | 347 | S>A | No |
ExAC TOPMed gnomAD |
|
|
RCV001369027 rs759958810 |
347 | S>P | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs369326424 RCV001037677 |
348 | P>S | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| COSM4116375 | 349 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1724254383 | 349 | A>V | No | TOPMed | |
|
RCV001302880 rs1724254101 |
350 | N>K | No |
ClinVar Ensembl dbSNP |
|
|
rs200512211 RCV001922031 |
350 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
| rs747858848 | 351 | L>F | No |
ExAC gnomAD |
|
| rs1234408601 | 353 | R>K | No | gnomAD | |
| rs746462763 | 354 | H>P | No |
ExAC gnomAD |
|
| rs780201072 | 354 | H>Q | No |
ExAC gnomAD |
|
| rs746462763 | 354 | H>R | No |
ExAC gnomAD |
|
|
rs774160718 RCV002027839 |
354 | H>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs758409027 | 356 | A>G | No |
ExAC gnomAD |
|
| rs376383380 | 357 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1724252716 | 357 | A>V | No | Ensembl | |
| rs754092372 | 360 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs754092372 | 360 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1393418641 | 362 | S>G | No | gnomAD | |
| rs764163062 | 362 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs146135588 | 363 | E>D | No |
ESP ExAC gnomAD |
|
|
RCV000908718 rs1577351866 |
364 | D>V | No |
ClinVar Ensembl dbSNP |
|
| rs752768453 | 365 | E>K | No | ExAC | |
| rs1724251602 | 366 | E>D | No | TOPMed | |
| TCGA novel | 366 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1724251421 | 367 | D>G | No | gnomAD | |
|
RCV001998258 rs2108760683 |
367 | D>N | No |
ClinVar Ensembl dbSNP |
1 associated diseases with P49585
[MIM: 608940]: Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)
A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. . Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.15 | Nucleotidyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 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. |
| 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 membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| glycogen granule | Cytoplasmic bead-like structures of animal cells, visible by electron microscope. Each granule is a functional unit with the biosynthesis and catabolism of glycogen being catalyzed by enzymes bound to the granule surface. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| choline-phosphate cytidylyltransferase activity | Catalysis of the reaction |
| identical protein binding | Binding to an identical protein or proteins. |
| molecular function inhibitor activity | A molecular function regulator that inhibits or decreases the activity of its target via non-covalent binding that does not result in covalent modification to the target. |
| phosphatidylcholine binding | Binding to a phosphatidylcholine, a glycophospholipid in which a phosphatidyl group is esterified to the hydroxyl group of choline. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| CDP-choline pathway | The phosphatidylcholine biosynthetic process that begins with the phosphorylation of choline and ends with the combination of CDP-choline with diacylglycerol to form phosphatidylcholine. |
| phosphatidylcholine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9Y5K3 | PCYT1B | Choline-phosphate cytidylyltransferase B | Homo sapiens (Human) | PR |
| Q811Q9 | Pcyt1b | Choline-phosphate cytidylyltransferase B | Mus musculus (Mouse) | SS |
| P49586 | Pcyt1a | Choline-phosphate cytidylyltransferase A | Mus musculus (Mouse) | SS |
| Q9QZC4 | Pcyt1b | Choline-phosphate cytidylyltransferase B | Rattus norvegicus (Rat) | PR |
| P19836 | Pcyt1a | Choline-phosphate cytidylyltransferase A | Rattus norvegicus (Rat) | EV |
| F4JJE0 | CCT2 | Choline-phosphate cytidylyltransferase 2 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDAQCSAKVN | ARKRRKEAPG | PNGATEEDGV | PSKVQRCAVG | LRQPAPFSDE | IEVDFSKPYV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RVTMEEASRG | TPCERPVRVY | ADGIFDLFHS | GHARALMQAK | NLFPNTYLIV | GVCSDELTHN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FKGFTVMNEN | ERYDAVQHCR | YVDEVVRNAP | WTLTPEFLAE | HRIDFVAHDD | IPYSSAGSDD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VYKHIKEAGM | FAPTQRTEGI | STSDIITRIV | RDYDVYARRN | LQRGYTAKEL | NVSFINEKKY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HLQERVDKVK | KKVKDVEEKS | KEFVQKVEEK | SIDLIQKWEE | KSREFIGSFL | EMFGPEGALK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HMLKEGKGRM | LQAISPKQSP | SSSPTRERSP | SPSFRWPFSG | KTSPPCSPAN | LSRHKAAAYD |
| ISEDEED |