A1L3X0
Gene name |
ELOVL7 |
Protein name |
Elongation of very long chain fatty acids protein 7 |
Names |
3-keto acyl-CoA synthase ELOVL7, ELOVL fatty acid elongase 7, ELOVL FA elongase 7, Very long chain 3-ketoacyl-CoA synthase 7, Very long chain 3-oxoacyl-CoA synthase 7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79993 |
EC number |
2.3.1.199: Transferring groups other than amino-acyl groups |
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 A1L3X0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6Y7F | X-ray | 205 A | A/B | 1-281 | PDB |
| AF-A1L3X0-F1 | Predicted | AlphaFoldDB |
211 variants for A1L3X0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs993148481 CA118806273 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs865939112 CA118806270 |
2 | A>V | No |
ClinGen Ensembl |
|
|
rs1291029526 CA359826624 |
4 | S>N | No |
ClinGen TOPMed |
|
|
rs1386065892 CA359826615 |
5 | D>G | No |
ClinGen TOPMed |
|
|
rs1323148075 CA359826606 |
6 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs149077457 CA118806245 COSM1069213 |
8 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs1561442414 CA359826592 |
9 | R>K | No |
ClinGen Ensembl |
|
|
rs1382169405 CA359826585 |
10 | T>S | No |
ClinGen gnomAD |
|
|
rs772826135 CA3277552 |
11 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA359826558 rs1224260058 |
14 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 15 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748037674 CA3277550 |
16 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359826529 rs572196960 |
18 | I>F | No |
ClinGen gnomAD |
|
|
CA118806213 rs572196960 |
18 | I>V | No |
ClinGen gnomAD |
|
|
CA3277548 rs144954272 |
20 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144954272 CA3277549 |
20 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3277525 rs780974146 |
22 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1260718376 CA359824776 |
23 | P>S | No |
ClinGen gnomAD |
|
|
rs1010679632 CA118794884 |
26 | E>G | No |
ClinGen Ensembl |
|
|
rs748522826 CA3277523 |
27 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1467154613 CA359824656 |
28 | W>C | No |
ClinGen gnomAD |
|
|
rs1278629969 CA359824671 |
28 | W>G | No |
ClinGen gnomAD |
|
|
CA359824617 rs1345404204 |
31 | M>T | No |
ClinGen TOPMed |
|
|
rs1342063562 CA359824623 |
31 | M>V | No |
ClinGen gnomAD |
|
|
rs1457781822 CA359824598 |
32 | S>C | No |
ClinGen TOPMed |
|
|
CA3277521 rs755383949 |
33 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1403892836 CA359824572 |
34 | P>L | No |
ClinGen gnomAD |
|
|
CA359824566 rs1458924487 |
35 | L>M | No |
ClinGen gnomAD |
|
|
rs756187498 CA3277518 |
36 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277517 rs750549527 COSM3947636 |
38 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767713024 CA3277516 |
39 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA359824499 rs1241900100 |
43 | F>L | No |
ClinGen gnomAD |
|
|
CA3277512 rs373511341 |
44 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140094024 CA3277513 |
44 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243855631 CA359824479 |
45 | V>I | No |
ClinGen TOPMed |
|
|
rs1263404770 CA359824460 |
46 | Y>C | No |
ClinGen TOPMed |
|
|
CA3277510 rs765138464 |
51 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315485074 CA359824350 |
53 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs376599737 CA118794793 |
54 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369562030 CA3277508 |
54 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359824314 rs147783451 |
56 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3277505 rs746673276 |
56 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3277506 rs147783451 |
56 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144190698 COSM1725938 CA3277504 |
57 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3277503 rs769098257 |
59 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359824251 COSM1292149 rs1399192362 |
59 | R>H | pancreas haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA359824249 rs1399192362 |
59 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1416299202 CA359824234 |
61 | P>A | No |
ClinGen gnomAD |
|
|
CA3277502 rs749653774 |
62 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs375834854 CA3277501 |
63 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201156536 CA118794728 |
65 | K>N | No |
ClinGen Ensembl |
|
|
CA3277500 rs756637634 |
66 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3277499 rs745942972 |
67 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781250032 CA3277498 |
67 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3277497 rs757408055 |
70 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277496 COSM1069212 rs199955250 |
70 | T>M | endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 70 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752495445 CA3277493 |
71 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359824080 rs752495445 |
71 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256736741 CA359824073 |
72 | N>S | No |
ClinGen gnomAD |
|
|
rs765220489 CA3277492 |
74 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 75 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145945715 CA3277491 |
75 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359824031 rs1215095198 |
76 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3277490 rs372933045 |
78 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs925008846 CA118794638 |
78 | F>S | No |
ClinGen Ensembl |
|
|
CA118794628 rs368309905 |
79 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359823984 rs368309905 |
79 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368309905 CA3277489 |
79 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359823980 rs1304030773 |
80 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3277485 rs749650538 |
82 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA118794583 rs1020987671 |
83 | C>F | No |
ClinGen Ensembl |
|
|
CA118794582 rs969911390 |
84 | Y>* | No |
ClinGen TOPMed |
|
|
rs1232906608 CA359823884 |
85 | E>V | No |
ClinGen TOPMed |
|
|
rs1196354786 CA359823455 |
87 | V>A | No |
ClinGen TOPMed |
|
|
rs199575400 CA3277451 |
87 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3277448 rs751200482 |
88 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277449 rs761475311 |
88 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3277447 rs763772946 |
89 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA359823417 rs1188949091 |
90 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 91 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3277446 rs759883343 |
91 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs777049585 CA3277445 |
92 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs771365279 CA3277444 |
93 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359823377 rs1316645129 |
93 | I>R | No |
ClinGen gnomAD |
|
|
rs761104177 CA3277443 |
94 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773295195 CA3277442 |
97 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA3277441 rs200699082 |
98 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866433834 CA359823319 |
98 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs866433834 CA118790945 |
98 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3277440 rs748301033 |
99 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3277439 rs779257014 |
101 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3277436 rs779998858 |
106 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749088345 CA3277437 |
106 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359823187 rs1384482751 |
110 | A>T | No |
ClinGen gnomAD |
|
|
CA359823180 rs1355905671 |
110 | A>V | No |
ClinGen gnomAD |
|
|
rs758001203 CA3277410 |
113 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1584164951 CA359822770 |
115 | R>C | No |
ClinGen Ensembl |
|
|
rs752378124 CA3277409 |
115 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA359822756 rs1295120998 |
117 | C>F | No |
ClinGen gnomAD |
|
|
CA359822724 rs1363190589 |
121 | Y>* | No |
ClinGen gnomAD |
|
|
CA359822709 rs1341341707 |
123 | S>F | No |
ClinGen TOPMed |
|
|
CA3277407 rs148759721 |
124 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs951412550 CA118790122 |
126 | I>T | No |
ClinGen TOPMed |
|
|
CA3277405 rs767905044 |
128 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs750860207 CA359822675 |
128 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762385054 CA3277404 |
130 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774514081 CA3277403 |
131 | T>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs781629199 | 132 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA118788606 rs887878720 |
133 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3277387 rs757654842 |
134 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3410336 rs200379193 CA3277386 |
137 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3277385 rs764734594 |
137 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764734594 CA118788582 |
137 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277384 rs763099478 |
138 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA359822282 rs1231864854 |
140 | N>D | No |
ClinGen gnomAD |
|
|
CA3277382 rs765312108 |
140 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1584160001 CA359822233 |
142 | Q>* | No |
ClinGen Ensembl |
|
|
CA3277381 rs759820418 |
143 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA118788540 rs975977103 |
146 | L>V | No |
ClinGen Ensembl |
|
|
CA3277379 rs375929224 |
147 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1414693188 CA359822114 |
149 | F>C | No |
ClinGen TOPMed |
|
|
rs1184102476 CA359822122 |
149 | F>L | No |
ClinGen TOPMed |
|
|
rs1409386996 CA359822109 |
149 | F>L | No |
ClinGen TOPMed |
|
|
CA359822101 rs1181616389 |
150 | H>Y | No |
ClinGen gnomAD |
|
|
rs760504279 CA3277378 |
151 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3277377 rs773112795 |
153 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3277376 rs200377514 |
155 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA118788523 rs866345231 |
155 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs768134267 CA3277373 |
158 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA359821942 rs1308465090 |
159 | W>* | No |
ClinGen TOPMed |
|
|
rs1584159719 CA359821949 |
159 | W>R | No |
ClinGen Ensembl |
|
|
rs1351059500 CA359821932 |
160 | F>L | No |
ClinGen gnomAD |
|
|
rs748991590 CA3277372 |
161 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781370319 CA3277371 |
162 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3277370 rs757660472 |
165 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359821898 rs1453406570 |
166 | A>S | No |
ClinGen gnomAD |
|
|
rs752016580 CA3277369 |
166 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3277350 rs758928464 COSM482935 |
172 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs375469282 CA3277349 |
174 | A>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3277348 rs779332363 |
175 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766584906 CA3277344 |
180 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs372397313 CA3277342 |
181 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372397313 CA3277343 |
181 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359821187 rs1319820556 |
182 | V>I | No |
ClinGen gnomAD |
|
|
rs761698111 CA3277340 |
188 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1294325992 CA359821143 |
188 | Y>H | No |
ClinGen TOPMed |
|
|
rs1277724183 CA359821133 |
189 | G>A | No |
ClinGen gnomAD |
|
|
rs774313366 CA3277338 |
190 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3277337 rs763982943 |
191 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1348627025 CA359821099 |
195 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 197 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410000088 CA359821048 |
202 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773675782 CA3277332 |
206 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452891362 CA359820981 |
211 | Q>K | No |
ClinGen Ensembl |
|
|
rs748514510 CA3277330 |
212 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359820859 rs1462731009 |
213 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA359820854 rs1423569684 |
213 | V>G | No |
ClinGen TOPMed |
|
|
rs1365878846 CA359820847 |
214 | Q>H | No |
ClinGen gnomAD |
|
|
CA359820850 rs1186111107 |
214 | Q>R | No |
ClinGen TOPMed |
|
|
rs1263947601 CA359820842 |
215 | F>S | No |
ClinGen gnomAD |
|
|
CA359820827 rs1232815845 |
217 | I>T | No |
ClinGen gnomAD |
|
|
CA359820818 rs1425385292 |
219 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1400067550 CA359820793 |
222 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3277312 rs770769866 |
222 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA359820779 rs748545912 |
224 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748545912 CA3277311 |
224 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277310 rs774587046 |
227 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA359820751 rs1298925920 |
228 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA118782959 rs979695222 |
230 | D>E | No |
ClinGen TOPMed |
|
|
CA359820717 rs546154166 |
230 | D>G | No |
ClinGen gnomAD |
|
|
rs1032193221 CA118782962 |
230 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA118782960 rs546154166 |
230 | D>V | No |
ClinGen gnomAD |
|
|
CA3277309 rs769151593 |
233 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA359820675 rs1346669495 |
233 | Y>D | No |
ClinGen gnomAD |
|
|
rs1384823154 CA359820646 |
235 | F>L | No |
ClinGen TOPMed |
|
|
CA3277307 rs114998585 COSM1069209 |
239 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1584138045 CA359820551 |
241 | I>M | No |
ClinGen Ensembl |
|
|
CA359820547 rs1206231495 |
242 | I>V | No |
ClinGen TOPMed |
|
|
rs745992984 CA3277305 |
243 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359820522 rs1243839419 |
243 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA359820533 rs1446451843 |
243 | M>V | No |
ClinGen gnomAD |
|
|
CA3277304 rs781379671 |
246 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1262764501 CA359820469 |
247 | F>S | No |
ClinGen gnomAD |
|
|
rs751300316 CA3277302 |
248 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3277303 rs757486640 |
248 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1584137900 CA359820417 |
252 | L>P | No |
ClinGen Ensembl |
|
|
CA118782896 rs867188493 |
255 | H>Y | No |
ClinGen Ensembl |
|
|
rs763943204 CA3277301 |
257 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3277300 rs116939630 |
259 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3277299 rs765315081 |
259 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3277298 rs765315081 |
259 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753469558 CA3277296 |
262 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3277294 rs374457003 |
264 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3277293 rs760262528 |
265 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3277292 rs774731618 |
266 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422155845 CA359820292 |
271 | V>A | No |
ClinGen gnomAD |
|
|
CA3277287 rs141936060 |
275 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3277286 rs570407523 |
277 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3277285 rs138772725 |
278 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341070373 CA359820222 |
281 | N>Y | No |
ClinGen gnomAD |
|
| rs1265423967 | 282 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771125083 CA3277284 |
282 | N>R | No |
ClinGen ExAC gnomAD |
No associated diseases with A1L3X0
1 regional properties for A1L3X0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | ELO family, conserved site | 143 - 151 | IPR030457 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.199 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3-oxo-arachidoyl-CoA synthase activity | Catalysis of the reaction: stearoyl-CoA(4-) + malonyl-CoA(5-) + H+ <=> 3-oxoicosanoyl-CoA. + carbon dioxide + coenzyme A. |
| fatty acid elongase activity | Catalysis of the reaction: fatty acid (C-16 or longer) + 2-C = fatty acid (C-16 or longer + 2-C). |
| very-long-chain 3-ketoacyl-CoA synthase activity | Catalysis of the reaction: malonyl-CoA + a very-long-chain 2,3,4-saturated fatty acyl CoA = carbon dioxide + coenzyme A + a very-long-chain oxoacyl-CoA. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| fatty acid elongation, monounsaturated fatty acid | Elongation of a fatty acid chain into which one C-C double bond has been introduced. |
| fatty acid elongation, polyunsaturated fatty acid | Elongation of a fatty acid chain into which two or more C-C double bonds have been introduced. |
| fatty acid elongation, saturated fatty acid | Elongation of a saturated fatty acid chain. |
| 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 biosynthetic process | The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). |
| unsaturated fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of an unsaturated fatty acid, any fatty acid containing one or more double bonds between carbon atoms. |
| 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BW60 | ELOVL1 | Elongation of very long chain fatty acids protein 1 | Homo sapiens (Human) | PR |
| Q9JLJ5 | Elovl1 | Elongation of very long chain fatty acids protein 1 | Mus musculus (Mouse) | PR |
| Q9D2Y9 | Elovl7 | Elongation of very long chain fatty acids protein 7 | Mus musculus (Mouse) | PR |
| Q3S8M4 | ELOVL4 | Elongation of very long chain fatty acids protein 4 | Macaca mulatta (Rhesus macaque) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFSDLTSRT | VHLYDNWIKD | ADPRVEDWLL | MSSPLPQTIL | LGFYVYFVTS | LGPKLMENRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PFELKKAMIT | YNFFIVLFSV | YMCYEFVMSG | WGIGYSFRCD | IVDYSRSPTA | LRMARTCWLY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YFSKFIELLD | TIFFVLRKKN | SQVTFLHVFH | HTIMPWTWWF | GVKFAAGGLG | TFHALLNTAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HVVMYSYYGL | SALGPAYQKY | LWWKKYLTSL | QLVQFVIVAI | HISQFFFMED | CKYQFPVFAC |
| 250 | 260 | 270 | 280 | ||
| IIMSYSFMFL | LLFLHFWYRA | YTKGQRLPKT | VKNGTCKNKD | N |