Q9NZ01
Gene name |
TECR (GPSN2, SC2) |
Protein name |
Very-long-chain enoyl-CoA reductase |
Names |
Synaptic glycoprotein SC2, Trans-2,3-enoyl-CoA reductase, TER |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9524 |
EC number |
1.3.1.93: With NAD(+) or NADP(+) 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 Q9NZ01
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DZJ | NMR | - | A | 1-81 | PDB |
| AF-Q9NZ01-F1 | Predicted | AlphaFoldDB |
215 variants for Q9NZ01
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9255043 rs772297819 RCV001330353 |
54 | P>R | Intellectual disability, autosomal recessive 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000437833 RCV001335398 RCV002524710 CA9255075 rs753690636 |
88 | V>L | Inborn genetic diseases Intellectual disability, autosomal recessive 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_065918 RCV000023795 CA129481 rs199469705 |
182 | P>L | Intellectual disability, autosomal recessive 14 MRT14; reduced enzyme activity; reduced protein stability; no effect on subcellular localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA9254929 rs746471139 |
3 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs761583185 CA9254930 |
5 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760969845 CA9254961 |
11 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9254960 rs750439728 |
11 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254962 rs574359444 |
16 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 17 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404435120 rs1599498505 |
23 | V>A | No |
ClinGen Ensembl |
|
|
CA404435139 rs1462233750 |
26 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM1390963 rs763449006 CA9255003 |
27 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764495966 CA9255004 |
28 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752066182 CA9255005 |
29 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404435180 rs757780004 |
32 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs949207756 CA305679805 |
34 | N>K | No |
ClinGen gnomAD |
|
|
rs765812213 CA9255007 |
35 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255008 rs765812213 |
35 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 39 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305679811 rs768569087 |
40 | H>Y | No |
ClinGen gnomAD |
|
|
CA9255030 rs757998419 |
41 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757998419 CA404435249 |
41 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1189909 rs752410543 CA9255029 |
41 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404435270 rs746765941 |
44 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255031 rs777440115 |
44 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255032 rs746765941 |
44 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255033 rs757170936 |
45 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745777166 CA305680248 |
46 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9255035 rs745777166 |
46 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1214757084 CA404435283 |
47 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1462315926 CA404435286 |
47 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 49 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9255038 rs11539238 |
50 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305680271 rs774492919 |
50 | L>H | No |
ClinGen Ensembl |
|
|
CA305680262 rs11539238 |
50 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9255039 rs768867355 |
51 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255040 COSM1228869 rs774603707 |
51 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1285860324 CA404435347 |
56 | G>S | No |
ClinGen gnomAD |
|
|
rs761179115 CA404435360 |
57 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568430090 CA404435380 |
61 | D>N | No |
ClinGen Ensembl |
|
|
rs1474985924 CA404435396 |
63 | D>N | No |
ClinGen gnomAD |
|
|
CA404435406 rs1343363113 |
64 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 70 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305680443 rs367952165 |
70 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763488501 CA9255067 |
72 | T>I | No |
ClinGen ExAC |
|
|
CA9255069 rs761366209 |
73 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA404435567 rs1191862746 |
74 | A>V | No |
ClinGen TOPMed |
|
|
rs767425463 CA9255070 |
75 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA404435667 rs1391607537 |
78 | F>L | No |
ClinGen gnomAD |
|
|
CA404435672 rs200985373 |
79 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9255072 COSM991919 rs200985373 |
79 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA404435756 rs1237249707 |
83 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9255074 rs780101287 |
85 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA404435886 rs1599500836 |
88 | V>G | No |
ClinGen Ensembl |
|
|
rs575237431 CA9255076 |
89 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404435905 rs545666123 |
89 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545666123 CA9255077 |
89 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA305680648 rs200657884 |
93 | T>I | No |
ClinGen Ensembl |
|
|
rs757674268 CA9255101 |
94 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781406708 CA9255102 |
95 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1426987679 CA404436083 |
96 | A>P | No |
ClinGen TOPMed |
|
|
rs1426987679 CA404436085 |
96 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404436091 rs1211545696 COSM1228870 |
96 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 98 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865898754 CA305680692 |
99 | L>F | No |
ClinGen Ensembl |
|
|
CA305680697 rs977191003 |
101 | I>L | No |
ClinGen TOPMed |
|
|
CA305680710 rs773934673 |
103 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404436176 rs1256092718 |
105 | F>I | No |
ClinGen TOPMed |
|
|
rs1259041440 CA404436203 |
108 | R>P | No |
ClinGen gnomAD |
|
|
rs1568430685 CA404436205 |
109 | V>M | No |
ClinGen Ensembl |
|
|
rs1419523763 CA404436236 |
113 | Y>C | No |
ClinGen gnomAD |
|
|
rs1568430717 CA404436242 |
114 | G>C | No |
ClinGen Ensembl |
|
|
CA404436253 rs1305435732 |
115 | H>Q | No |
ClinGen TOPMed |
|
|
CA404436250 rs1599501543 |
115 | H>R | No |
ClinGen Ensembl |
|
|
rs1294543685 CA404436258 |
116 | K>R | No |
ClinGen TOPMed |
|
|
CA404436267 rs1463368913 |
117 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404436287 rs1334957118 |
118 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs929927050 CA305680734 |
118 | D>V | No |
ClinGen Ensembl |
|
|
CA404436310 rs1349847583 |
120 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1007090986 CA305680737 |
123 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404436344 rs1239428852 |
123 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9255110 rs766346435 |
124 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1402929106 CA404436367 |
125 | T>A | No |
ClinGen TOPMed |
|
|
CA404436463 rs1281830928 |
130 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1484517668 CA404436472 |
131 | C>Y | No |
ClinGen gnomAD |
|
|
rs1599502275 CA404436482 |
132 | I>M | No |
ClinGen Ensembl |
|
|
rs762871593 CA9255135 |
132 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9255136 rs764161947 |
135 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs762045530 CA9255138 |
136 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1379053363 CA404436518 CA404436517 |
137 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404436529 rs1439618990 |
139 | I>F | No |
ClinGen gnomAD |
|
|
rs1370748911 CA404436538 |
140 | K>R | No |
ClinGen TOPMed |
|
|
rs767595944 CA9255139 |
141 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750628073 CA9255140 |
141 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9255144 rs755480303 |
144 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs11539235 CA305680966 |
145 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436591621 CA404436571 |
146 | L>I | No |
ClinGen gnomAD |
|
|
rs1458829550 CA404436593 |
148 | V>A | No |
ClinGen TOPMed |
|
|
rs370937224 CA404436590 |
148 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9255146 rs370937224 |
148 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1166383411 CA404436606 |
150 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9255147 rs770440447 |
151 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218087242 CA404436627 |
152 | S>F | No |
ClinGen gnomAD |
|
|
rs1356949234 CA404436636 |
153 | H>L | No |
ClinGen TOPMed |
|
|
CA404436633 rs1273298187 |
153 | H>Y | No |
ClinGen gnomAD |
|
|
CA404436640 rs1207148364 |
154 | G>S | No |
ClinGen gnomAD |
|
|
CA404436658 rs1457554025 |
156 | M>L | No |
ClinGen gnomAD |
|
|
rs1457554025 CA404436657 |
156 | M>V | No |
ClinGen gnomAD |
|
|
CA9255149 rs769542618 |
157 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255150 rs775199162 |
159 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775199162 CA404436681 |
159 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM117144 CA9255151 rs367816943 |
159 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404436684 rs367816943 |
159 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1802169 CA9255152 |
162 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404436714 rs1411858922 |
163 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404436713 rs1411858922 |
163 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs761840297 CA9255154 |
163 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599505622 CA404438243 |
164 | N>H | No |
ClinGen Ensembl |
|
|
rs773191627 CA9255196 |
166 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9255197 rs747148593 |
167 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA404438342 rs1285391667 |
168 | Y>C | No |
ClinGen gnomAD |
|
|
rs986505550 CA305681479 |
168 | Y>N | No |
ClinGen TOPMed |
|
|
CA9255199 rs777048560 |
170 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765698953 CA9255201 |
172 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1254293613 CA404438391 |
173 | A>T | No |
ClinGen gnomAD |
|
|
rs1441657130 CA404438396 |
173 | A>V | No |
ClinGen gnomAD |
|
|
rs1395169379 CA404438485 |
184 | Y>D | No |
ClinGen gnomAD |
|
|
rs1158826581 CA404438497 |
185 | T>I | No |
ClinGen TOPMed |
|
|
CA9255207 rs760228540 |
186 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404438501 rs760228540 |
186 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765862753 CA9255208 |
187 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765862753 CA404438513 |
187 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404438512 rs765862753 |
187 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271051567 CA404438518 |
188 | T>A | No |
ClinGen TOPMed |
|
|
CA9255229 rs753329257 |
188 | T>N | No |
ClinGen ExAC |
|
|
rs764909052 CA9255231 |
189 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758229620 CA9255233 |
190 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA404438541 rs1315867683 |
190 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404438549 rs1478197074 |
191 | A>D | No |
ClinGen TOPMed |
|
|
CA305681739 rs777367114 |
196 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA404438598 rs1189016830 COSM1228868 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9255237 rs781472725 |
200 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA404438605 rs1470198351 |
200 | I>V | No |
ClinGen gnomAD |
|
|
CA404438622 rs1203523753 |
202 | V>A | No |
ClinGen gnomAD |
|
|
CA404438650 rs1165336013 |
204 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404438653 rs1407972406 |
205 | Q>* | No |
ClinGen TOPMed |
|
|
CA9255248 COSM3772518 rs775216128 |
208 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9255249 rs775216128 |
208 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264753206 CA404438684 |
209 | F>L | No |
ClinGen gnomAD |
|
|
CA9255250 rs764010266 |
213 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385061666 CA404438719 |
214 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1016800878 CA305681910 |
216 | R>Q | No |
ClinGen TOPMed |
|
|
rs1383359863 CA404438748 |
217 | D>E | No |
ClinGen gnomAD |
|
|
rs1236990027 CA404438763 |
219 | R>Q | No |
ClinGen TOPMed |
|
|
rs369073436 CA9255252 |
221 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 224 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 224 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378564126 CA404438811 |
225 | T>M | No |
ClinGen gnomAD |
|
|
CA9255273 rs750389418 |
226 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9255275 rs766536818 |
229 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599507591 CA404438841 |
230 | Y>S | No |
ClinGen Ensembl |
|
|
CA404438847 rs1374040102 |
231 | P>A | No |
ClinGen gnomAD |
|
|
CA404438857 rs1172373426 |
232 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 233 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404438862 rs1448918355 |
233 | K>R | No |
ClinGen gnomAD |
|
|
CA404438871 rs1599507618 |
234 | N>T | No |
ClinGen Ensembl |
|
|
CA404438886 rs1599507639 |
236 | F>L | No |
ClinGen Ensembl |
|
|
rs1352371127 CA404438892 |
237 | T>M | No |
ClinGen gnomAD |
|
|
rs1310046574 CA404438928 |
243 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404438938 rs1163959161 |
244 | S>Y | No |
ClinGen TOPMed |
|
|
rs1354387493 CA404438965 |
248 | Y>C | No |
ClinGen gnomAD |
|
|
rs758771173 CA9255280 |
249 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1188461250 CA404439035 |
257 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1449958806 CA404439050 |
259 | A>T | No |
ClinGen gnomAD |
|
|
CA9255311 rs760415972 |
259 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1417017101 CA404439056 |
260 | I>V | No |
ClinGen gnomAD |
|
|
rs1264225416 CA404439086 |
264 | C>R | No |
ClinGen gnomAD |
|
|
rs1185059852 CA404439089 |
264 | C>S | No |
ClinGen TOPMed |
|
|
CA404439093 rs1489393529 |
265 | L>F | No |
ClinGen gnomAD |
|
|
CA404439146 rs1276260764 |
271 | S>C | No |
ClinGen gnomAD |
|
|
CA404439145 rs1276260764 |
271 | S>F | No |
ClinGen gnomAD |
|
|
CA404439147 rs1276260764 |
271 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1179209770 CA404439152 |
272 | L>R | No |
ClinGen gnomAD |
|
|
CA404439163 rs1329720150 |
274 | G>A | No |
ClinGen TOPMed |
|
|
CA305682700 rs928402871 |
275 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1377915473 CA404439177 |
276 | T>I | No |
ClinGen gnomAD |
|
|
rs1467252503 CA404439193 |
278 | M>I | No |
ClinGen gnomAD |
|
|
CA305682706 rs959803672 |
278 | M>L | No |
ClinGen TOPMed |
|
|
rs757991417 CA9255341 |
280 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332658610 CA404439214 |
281 | W>C | No |
ClinGen gnomAD |
|
|
CA305682735 rs964867376 |
282 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 284 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404439228 rs1158790131 |
284 | G>S | No |
ClinGen TOPMed |
|
|
rs1306368190 CA404439234 |
285 | K>E | No |
ClinGen gnomAD |
|
|
CA9255344 rs539503764 |
287 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9255343 rs539503764 |
287 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404439251 rs1235700606 |
287 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745697598 CA9255347 |
288 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780892632 CA9255345 |
288 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1199013603 CA404439264 |
289 | Y>F | No |
ClinGen gnomAD |
|
|
rs566728357 CA9255349 |
294 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749158547 CA9255348 |
294 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs371148869 CA305682801 |
298 | P>L | No |
ClinGen gnomAD |
|
|
CA404439331 rs1376668265 |
298 | P>S | No |
ClinGen gnomAD |
|
|
CA9255352 rs767746955 |
299 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404439344 rs1171794910 |
299 | L>V | No |
ClinGen gnomAD |
|
|
CA9255353 rs773524852 |
300 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255354 rs761141551 |
301 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA404439397 rs1388541153 |
302 | P>H | No |
ClinGen gnomAD |
|
|
rs1391581665 CA404439391 |
302 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404439456 rs1568434752 |
305 | P>L | No |
ClinGen Ensembl |
1 associated diseases with Q9NZ01
[MIM: 614020]: Intellectual developmental disorder, autosomal recessive 14 (MRT14)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21212097, ECO:0000269|PubMed:24220030}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21212097, ECO:0000269|PubMed:24220030}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9NZ01
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal | 155 - 308 | IPR001104 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.1.93 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
| very-long-chain enoyl-CoA reductase activity | Catalysis of the reaction: NADP(3-) + a very-long-chain 2,3,4-saturated fatty acyl CoA <=> NADPH(4-) + H+ + a very-long-chain trans-2,3-dehydroacyl-CoA. |
| very-long-chain-acyl-CoA dehydrogenase activity | Catalysis of the reaction: a very-long-chain 2,3-saturated fatty acyl-CoA + H+ + oxidized = a very-long-chain (2E)-enoyl-CoA + reduced |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| fatty acid elongation | The elongation of a fatty acid chain by the sequential addition of two-carbon units. |
| long-chain fatty-acyl-CoA biosynthetic process | The chemical reactions and pathways resulting in the formation of a long-chain fatty-acyl-CoA any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more. |
| sphingolipid metabolic process | The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). |
| very long-chain fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of a fatty acid which has a chain length greater than C22. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BFZ1 | Tecrl | Trans-2,3-enoyl-CoA reductase-like | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKHYEVEILD | AKTREKLCFL | DKVEPHATIA | EIKNLFTKTH | PQWYPARQSL | RLDPKGKSLK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEDVLQKLPV | GTTATLYFRD | LGAQISWVTV | FLTEYAGPLF | IYLLFYFRVP | FIYGHKYDFT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSRHTVVHLA | CICHSFHYIK | RLLETLFVHR | FSHGTMPLRN | IFKNCTYYWG | FAAWMAYYIN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HPLYTPPTYG | AQQVKLALAI | FVICQLGNFS | IHMALRDLRP | AGSKTRKIPY | PTKNPFTWLF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLVSCPNYTY | EVGSWIGFAI | MTQCLPVALF | SLVGFTQMTI | WAKGKHRSYL | KEFRDYPPLR |
| MPIIPFLL |