Q8TDX5
PR
Gene name |
ACMSD |
Protein name |
2-amino-3-carboxymuconate-6-semialdehyde decarboxylase |
Names |
Picolinate carboxylase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:130013 |
EC number |
4.1.1.45: Carboxy-lyases |
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
7 structures for Q8TDX5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2WM1 | X-ray | 201 A | A | 1-336 | PDB |
| 4IGM | X-ray | 239 A | A/B/C/D/E/F | 1-332 | PDB |
| 4IGN | X-ray | 233 A | A/B/C/D/E/F | 1-332 | PDB |
| 4IH3 | X-ray | 249 A | A/B/C/D/E/F | 1-332 | PDB |
| 4OFC | X-ray | 199 A | A/B/C/D/E/F | 1-335 | PDB |
| 7PWY | X-ray | 250 A | A/B/C/D | 1-336 | PDB |
| AF-Q8TDX5-F1 | Predicted | AlphaFoldDB |
299 variants for Q8TDX5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1378709017 COSM1006679 CA348647270 |
3 | I>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1378709017 CA348647271 |
3 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348647284 rs199786838 |
5 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
TCGA novel CA1882566 rs199786838 |
5 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA348647288 rs1243713583 |
6 | H>D | No |
ClinGen gnomAD |
|
|
CA1882568 rs754345616 |
8 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1262250299 CA348647327 |
11 | P>R | No |
ClinGen TOPMed |
|
|
CA1882572 rs750615358 |
13 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA348647351 rs1330005196 |
14 | W>C | No |
ClinGen gnomAD |
|
|
CA56763339 rs749426315 |
15 | P>T | No |
ClinGen Ensembl |
|
|
CA56763340 rs1040361179 |
17 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 19 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 19 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 20 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765809589 CA348647613 |
20 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 20 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765809589 CA1882590 |
20 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882591 rs537448754 |
22 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1193404553 CA348647641 |
24 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1882593 COSM1181599 rs370698092 |
24 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1468062689 CA348647644 |
25 | G>R | No |
ClinGen gnomAD |
|
|
CA348647662 rs1211950778 |
27 | V>G | No |
ClinGen gnomAD |
|
|
CA1882594 rs751847664 |
28 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1423597384 CA348647667 |
28 | Q>R | No |
ClinGen gnomAD |
|
|
CA1882595 rs556099628 |
30 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348647681 rs1559037989 |
30 | Q>R | No |
ClinGen Ensembl |
|
|
rs749148151 CA1882597 |
31 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777745805 CA1882596 |
31 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA56764046 rs199705304 |
33 | S>G | No |
ClinGen Ensembl |
|
|
CA348647700 rs1204005245 |
33 | S>N | No |
ClinGen TOPMed |
|
|
rs80045521 CA1882599 |
34 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348647705 rs1164987110 |
34 | K>Q | No |
ClinGen gnomAD |
|
|
CA1882609 rs568825076 |
35 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766592428 CA1882610 |
36 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348649361 rs1290465943 |
36 | E>K | No |
ClinGen gnomAD |
|
|
CA1882612 rs755224773 |
38 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1882613 rs539329795 |
39 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348649382 rs1292671335 |
39 | L>W | No |
ClinGen TOPMed |
|
|
rs1013209332 CA56765514 |
40 | L>M | No |
ClinGen Ensembl |
|
|
rs1356228849 CA348649404 |
42 | D>V | No |
ClinGen TOPMed |
|
|
rs1275865493 CA348649411 |
43 | G>A | No |
ClinGen TOPMed |
|
|
rs753563049 CA1882614 |
43 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1882615 rs757143841 |
45 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs750385746 CA1882617 |
47 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1882618 rs757853847 |
48 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348649449 rs1469158491 |
48 | V>L | No |
ClinGen gnomAD |
|
|
rs181857322 COSM1399474 CA1882619 |
50 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs145720089 CA348649467 |
50 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145720089 CA1882620 |
50 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348649472 rs1573639717 |
51 | E>K | No |
ClinGen Ensembl |
|
|
rs780952596 CA1882622 |
53 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882623 rs748454862 |
54 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA348649498 rs1431432230 |
54 | W>R | No |
ClinGen gnomAD |
|
|
CA348649507 rs1332862446 |
55 | D>A | No |
ClinGen TOPMed |
|
|
CA1882624 rs117363436 |
55 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1882625 rs773545820 |
56 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882627 rs771610050 |
57 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1882628 COSM1006681 rs267598885 |
59 | R>C | large_intestine endometrium Variant assessed as Somatic; 0.0005082 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1882629 rs144211190 |
59 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144211190 CA348649539 |
59 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1882630 rs767630747 |
60 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483240568 CA348649571 |
63 | M>V | No |
ClinGen gnomAD |
|
|
rs1199221391 CA348649585 |
64 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA56765515 COSM1684865 rs866389689 |
67 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 69 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348649636 rs1193666602 |
70 | V>M | No |
ClinGen gnomAD |
|
|
rs1291617442 CA348649652 |
72 | A>S | No |
ClinGen gnomAD |
|
|
rs1008784833 CA56765755 |
73 | L>I | No |
ClinGen Ensembl |
|
|
CA348649689 rs1212576178 |
78 | V>A | No |
ClinGen gnomAD |
|
|
CA1882650 CA1882649 rs760985297 |
80 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1882651 rs750192483 |
82 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882652 rs762793455 |
83 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348649724 rs1307603527 |
83 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767404144 CA1882673 |
88 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882675 rs755651330 |
90 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348649802 rs1384933718 |
92 | L>R | No |
ClinGen gnomAD |
|
|
rs763775621 CA1882676 |
93 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs912530472 CA56765899 |
93 | C>W | No |
ClinGen TOPMed |
|
|
CA1882677 rs753561448 |
94 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882678 rs757649879 |
96 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA1882681 rs779448445 |
98 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs746255722 CA1882682 |
99 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330559552 CA348649854 |
100 | L>P | No |
ClinGen gnomAD |
|
|
CA1882683 rs758913560 |
101 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1397665758 CA348649861 |
102 | S>R | No |
ClinGen TOPMed |
|
|
rs372245923 COSM204549 CA1882684 |
104 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1882685 rs747107540 |
105 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs529706023 CA1882687 |
107 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348649906 rs1486210814 |
109 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs770044573 CA1882690 |
110 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs748389325 CA1882688 |
110 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348649919 rs1182694145 |
111 | F>L | No |
ClinGen gnomAD |
|
|
rs1255983552 CA348649929 |
112 | V>A | No |
ClinGen TOPMed |
|
|
rs767489468 CA348649927 |
112 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882692 rs767489468 |
112 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882694 rs760177854 |
113 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1882693 rs775298738 |
113 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs977255757 CA56765906 |
115 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1882697 rs549199608 |
116 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1333467658 CA348649957 |
118 | P>S | No |
ClinGen gnomAD |
|
|
CA348649968 rs1235393777 |
119 | M>T | No |
ClinGen gnomAD |
|
|
rs376175166 CA56765907 |
121 | A>D | No |
ClinGen ESP TOPMed |
|
|
rs376175166 CA56765908 |
121 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA1882702 rs368920093 |
125 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780542053 CA1882701 |
125 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1882703 rs368920093 |
125 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1396743762 CA348650009 |
126 | V>I | No |
ClinGen gnomAD |
|
|
CA348650021 rs1398951236 |
128 | E>K | No |
ClinGen TOPMed |
|
|
rs868612427 CA56765909 |
128 | E>V | No |
ClinGen Ensembl |
|
|
rs1390840879 CA348650034 |
129 | M>I | No |
ClinGen TOPMed |
|
|
CA56765910 COSM295524 rs939826275 |
131 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1882705 COSM1006682 rs147728377 |
131 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1882706 rs769991233 |
132 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA56765911 rs898693281 |
132 | C>Y | No |
ClinGen Ensembl |
|
|
CA1882708 rs777924955 |
133 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1882709 rs146003945 |
134 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444683664 CA348650067 |
135 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771780744 CA1882710 |
136 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1298919031 CA348650076 |
136 | L>V | No |
ClinGen gnomAD |
|
|
rs1559049281 CA348650083 |
137 | G>A | No |
ClinGen Ensembl |
|
|
rs1559049281 CA348650082 |
137 | G>D | No |
ClinGen Ensembl |
|
|
rs1462232776 CA348650086 |
138 | F>L | No |
ClinGen gnomAD |
|
|
CA1882712 rs760563372 |
139 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348650100 rs1387969809 |
140 | G>E | No |
ClinGen gnomAD |
|
|
CA1882714 rs776256474 |
140 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882715 rs367716780 |
143 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550216514 CA1882718 |
145 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs550216514 CA348650132 |
145 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1882717 rs550216514 |
145 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763318576 CA1882719 |
146 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA1882720 rs766675227 |
146 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs201644333 CA1882722 COSM171954 |
147 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs757635581 CA1882724 |
149 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348650153 rs1254189231 |
149 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA56765913 rs757635581 |
149 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348650162 rs1468374545 |
150 | W>* | No |
ClinGen gnomAD |
|
|
rs898681046 CA56765914 |
150 | W>R | No |
ClinGen TOPMed |
|
|
CA348650174 rs756194740 |
152 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348650177 rs1392476284 |
152 | L>R | No |
ClinGen gnomAD |
|
|
rs756194740 CA1882725 |
152 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749496752 CA348650184 |
153 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779680562 CA348650189 |
154 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771862935 CA348650186 |
154 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771862935 CA1882728 |
154 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779680562 CA1882729 COSM1006684 |
154 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1191285805 CA348650192 |
155 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1882731 rs768697043 |
158 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA56765915 rs768697043 |
158 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs776772158 CA1882732 |
159 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761339965 CA1882733 |
160 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs758002142 CA1882734 |
161 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1882735 rs200737019 |
161 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1882736 COSM1181600 rs148826882 |
162 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1360728303 CA348556516 |
163 | A>V | No |
ClinGen gnomAD |
|
|
rs1313743354 CA348556525 |
164 | A>V | No |
ClinGen gnomAD |
|
|
CA348556527 rs757421443 |
165 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882768 rs765305986 |
165 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1721427 rs757421443 CA1882767 |
165 | E>K | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348556534 rs1374132230 |
166 | R>K | No |
ClinGen gnomAD |
|
|
rs199939588 CA1882769 |
169 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1180144644 CA348556563 |
170 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 171 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348556568 rs1350543566 |
171 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA348556569 rs1350543566 |
171 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348556572 rs1250706571 |
172 | F>V | No |
ClinGen TOPMed |
|
|
CA1882770 rs144757487 |
173 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA348556596 rs1218334371 |
175 | P>L | No |
ClinGen TOPMed |
|
|
CA348556591 rs1276233089 |
175 | P>T | No |
ClinGen TOPMed |
|
|
CA1882773 rs755993446 |
177 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA56529390 rs969976018 |
180 | M>V | No |
ClinGen gnomAD |
|
|
CA348556641 rs1573656851 |
181 | D>G | No |
ClinGen Ensembl |
|
|
CA1882774 rs777835200 |
181 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1882776 rs370807501 |
183 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1882777 rs200534044 |
183 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA348556676 rs1349261467 |
186 | K>N | No |
ClinGen TOPMed |
|
|
rs1413040326 CA348556690 |
188 | W>L | No |
ClinGen gnomAD |
|
|
rs1441516977 CA348556708 |
191 | W>G | No |
ClinGen gnomAD |
|
|
rs769035826 CA1882782 |
193 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769035826 CA348556724 |
193 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267598886 CA1882797 |
194 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA56532413 rs267598886 |
194 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 196 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs991850875 CA56532430 |
196 | P>S | No |
ClinGen Ensembl |
|
|
CA1882798 rs138684700 |
198 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369408142 CA348557401 |
198 | E>K | No |
ClinGen Ensembl |
|
|
CA1882799 rs747265677 |
199 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747265677 CA348557410 |
199 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1882801 rs559044226 |
201 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1559054542 CA348557426 |
202 | A>D | No |
ClinGen Ensembl |
|
|
CA1882802 rs762413529 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs961139585 CA56532500 |
203 | I>M | No |
ClinGen Ensembl |
|
|
CA1882803 rs770461483 |
204 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1882805 rs773402188 |
204 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882807 rs766643624 CA1882806 |
206 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA348557465 rs760338573 |
208 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882808 rs760338573 |
208 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348557479 rs763984016 |
210 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882809 rs763984016 |
210 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201537963 CA1882810 |
211 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA56532553 rs34647266 |
214 | K>N | No |
ClinGen Ensembl |
|
|
CA348557506 rs1420170427 COSM1660367 |
214 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1164865375 CA348557522 |
217 | K>Q | No |
ClinGen gnomAD |
|
|
CA348557534 rs1389137849 |
218 | L>P | No |
ClinGen gnomAD |
|
|
CA1882812 rs778883483 |
219 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163614472 CA348557544 |
220 | V>L | No |
ClinGen TOPMed |
|
|
CA1882815 rs138679619 |
223 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138679619 CA1882814 |
223 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746694024 CA1882816 |
223 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755257201 CA1882817 |
225 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1882837 rs748480525 |
226 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs370052319 CA1882818 |
226 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748480525 CA1882838 |
226 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1210426583 CA348557604 |
228 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs141418031 CA56533975 |
230 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs141418031 CA56533979 COSM110014 |
230 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs867665201 CA56533985 |
232 | T>P | No |
ClinGen TOPMed |
|
|
CA348557635 rs1387597638 |
233 | V>E | No |
ClinGen TOPMed |
|
|
CA348557651 rs1438237978 |
236 | I>L | No |
ClinGen gnomAD |
|
|
rs377498690 CA1882841 |
238 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA56534025 rs984201721 |
241 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1284030683 CA348557688 |
241 | S>T | No |
ClinGen gnomAD |
|
|
COSM1006687 CA56534034 rs766223313 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199569492 CA1882843 |
243 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1882842 rs766223313 |
243 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348557717 rs1467636056 |
245 | D>E | No |
ClinGen TOPMed |
|
|
CA348557710 rs1211341250 |
245 | D>N | No |
ClinGen TOPMed |
|
|
rs139962846 CA56534090 |
250 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 251 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775576714 CA348557763 |
252 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882845 rs775576714 |
252 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236404032 CA348557777 |
254 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761534630 CA1882846 |
255 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762844432 CA1882849 |
257 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348557844 rs1481672810 |
263 | Y>* | No |
ClinGen gnomAD |
|
|
rs1167120505 CA348557847 |
264 | T>A | No |
ClinGen TOPMed |
|
|
rs766274212 CA1882851 |
265 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1559055829 CA348557854 |
265 | D>Y | No |
ClinGen Ensembl |
|
|
CA56534176 rs947117966 |
266 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1882852 rs754511629 |
267 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA1882853 rs767141646 |
269 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454080515 CA348557889 COSM1564801 |
270 | D>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1882854 rs752419666 |
270 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173554270 CA348557893 |
271 | P>H | No |
ClinGen gnomAD |
|
|
CA348557890 rs1559055909 |
271 | P>T | No |
ClinGen Ensembl |
|
|
rs151324307 CA1882857 |
275 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1882858 rs151324307 |
275 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348557927 rs1397490595 |
277 | L>S | No |
ClinGen gnomAD |
|
|
CA348557943 rs1443081379 |
279 | D>E | No |
ClinGen gnomAD |
|
|
rs200995606 CA1882860 |
281 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348557968 rs1370020180 |
283 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA348557967 rs1370020180 |
283 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762030101 CA1882881 |
284 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882880 rs374431302 |
284 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA56553661 rs971947597 |
288 | L>S | No |
ClinGen Ensembl |
|
|
rs1026003140 CA56553666 |
289 | G>E | No |
ClinGen gnomAD |
|
|
rs747139683 CA1882882 |
291 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348560452 rs781459593 |
292 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882884 rs781459593 |
292 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749014739 CA1882885 |
293 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882886 rs749014739 |
293 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475911298 CA348560465 |
293 | P>S | No |
ClinGen gnomAD |
|
|
CA348560488 rs1422043745 |
294 | F>L | No |
ClinGen gnomAD |
|
|
rs1452730902 CA348560511 |
296 | L>R | No |
ClinGen gnomAD |
|
|
rs772097831 CA1882889 |
296 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775129424 CA1882890 |
298 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757639172 CA56553787 |
300 | E>A | No |
ClinGen Ensembl |
|
|
rs763777326 CA1882892 |
301 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1882894 rs753551181 |
305 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1573736682 CA348560641 |
307 | S>F | No |
ClinGen Ensembl |
|
|
CA1882896 rs375252700 |
308 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1399476 CA348560646 rs1317921999 |
308 | M>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs201210695 CA1882897 |
310 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA56553847 rs910294827 |
310 | E>K | No |
ClinGen Ensembl |
|
|
rs943571118 CA56553885 |
311 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750836076 CA1882898 |
312 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1211141557 CA348560733 |
314 | E>K | No |
ClinGen gnomAD |
|
|
rs1481970814 CA348560749 |
315 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766805452 CA1882920 |
320 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376148065 CA348561892 |
321 | A>V | No |
ClinGen TOPMed |
|
|
rs375728090 CA1882924 |
322 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375728090 CA1882923 |
322 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1882926 rs778126544 |
325 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 327 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 328 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745585763 CA1882927 |
329 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs758285801 CA1882928 |
330 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316716970 CA348562082 |
332 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1467918333 CA348562097 |
333 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 335 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348562161 rs1420719336 |
335 | F>L | No |
ClinGen TOPMed |
|
|
rs746969756 CA1882930 |
335 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1882931 rs768751888 |
335 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs775979402 CA1882932 |
336 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA348562199 rs1244761998 |
337 | E>W | No |
ClinGen gnomAD |
No associated diseases with Q8TDX5
1 regional properties for Q8TDX5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Amidohydrolase-related | 3 - 330 | IPR006680 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.1.1.45 | Carboxy-lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| aminocarboxymuconate-semialdehyde decarboxylase activity | Catalysis of the reaction: 2-amino-3-carboxymuconate 6-semialdehyde + H(+) = 2-aminomuconate 6-semialdehyde + CO(2). |
| carboxy-lyase activity | Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. |
| hydrolase activity | Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. |
| zinc ion binding | Binding to a zinc ion (Zn). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of quinolinate biosynthetic process | Any process that stops, prevents or reduces the frequency, rate or extent of quinolinate biosynthetic process. |
| picolinic acid biosynthetic process | The chemical reactions and pathways resulting in the formation of picolinic acid. |
| regulation of 'de novo' NAD biosynthetic process from tryptophan | Any process that modulates the frequency, rate or extent of 'de novo' NAD biosynthetic process from tryptophan. |
| secondary metabolic process | The chemical reactions and pathways resulting in many of the chemical changes of compounds that are not necessarily required for growth and maintenance of cells, and are often unique to a taxon. In multicellular organisms secondary metabolism is generally carried out in specific cell types, and may be useful for the organism as a whole. In unicellular organisms, secondary metabolism is often used for the production of antibiotics or for the utilization and acquisition of unusual nutrients. |
| tryptophan catabolic process | The chemical reactions and pathways resulting in the breakdown of tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKIDIHSHIL | PKEWPDLKKR | FGYGGWVQLQ | HHSKGEAKLL | KDGKVFRVVR | ENCWDPEVRI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REMDQKGVTV | QALSTVPVMF | SYWAKPEDTL | NLCQLLNNDL | ASTVVSYPRR | FVGLGTLPMQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| APELAVKEME | RCVKELGFPG | VQIGTHVNEW | DLNAQELFPV | YAAAERLKCS | LFVHPWDMQM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DGRMAKYWLP | WLVGMPAETT | IAICSMIMGG | VFEKFPKLKV | CFAHGGGAFP | FTVGRISHGF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SMRPDLCAQD | NPMNPKKYLG | SFYTDALVHD | PLSLKLLTDV | IGKDKVILGT | DYPFPLGELE |
| 310 | 320 | 330 | |||
| PGKLIESMEE | FDEETKNKLK | AGNALAFLGL | ERKQFE |