Q8N5B7
PR
Gene name |
CERS5 |
Protein name |
Ceramide synthase 5 |
Names |
CerS5, LAG1 longevity assurance homolog 5, Sphingoid base N-palmitoyltransferase CERS5, Sphingosine N-acyltransferase CERS5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91012 |
EC number |
2.3.1.24: 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
1 structures for Q8N5B7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N5B7-F1 | Predicted | AlphaFoldDB |
260 variants for Q8N5B7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs750052836 CA6562357 |
2 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6562358 rs755799853 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201359715 CA384788488 |
4 | A>T | No |
ClinGen gnomAD |
|
|
CA384788459 rs1286973937 |
8 | P>H | No |
ClinGen TOPMed |
|
|
CA6562354 rs199600749 |
12 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6562351 rs370602576 |
14 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384788420 rs1257023350 |
14 | G>V | No |
ClinGen TOPMed |
|
|
CA6562350 rs375988921 |
17 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384788383 rs1332324759 CA384788384 |
19 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6562348 rs759896524 |
19 | E>Q | No |
ClinGen ExAC |
|
|
CA6562347 rs143484198 |
20 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384788371 rs1407145913 |
21 | F>L | No |
ClinGen gnomAD |
|
|
CA6562346 rs771213565 |
23 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1592471813 CA384788329 |
27 | V>G | No |
ClinGen Ensembl |
|
|
rs1168979937 CA384788334 |
27 | V>M | No |
ClinGen gnomAD |
|
|
CA6562341 rs779659984 |
28 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6562340 rs755605413 |
28 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA384788316 rs1460562715 |
29 | W>* | No |
ClinGen gnomAD |
|
|
CA6562339 rs138565968 |
32 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6562338 rs138565968 |
32 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6562336 rs200281472 |
34 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272087450 CA384788278 |
35 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1272087450 CA384788279 |
35 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA236735645 rs981259952 |
38 | G>D | No |
ClinGen TOPMed |
|
|
rs539187250 CA384788255 |
39 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539187250 CA6562335 |
39 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1156811991 CA384788257 |
39 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384788250 rs1341429789 |
40 | G>R | No |
ClinGen gnomAD |
|
|
rs758994279 CA6562334 |
42 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758994279 CA384788237 |
42 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6562333 rs753131506 |
43 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA384788224 rs1383711680 |
44 | G>D | No |
ClinGen gnomAD |
|
|
CA384788225 rs1410837969 |
44 | G>S | No |
ClinGen TOPMed |
|
|
rs907607622 CA236735628 |
45 | R>G | No |
ClinGen gnomAD |
|
|
CA6562331 rs759691404 |
45 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6562332 rs759691404 |
45 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA384788221 rs907607622 |
45 | R>W | No |
ClinGen gnomAD |
|
|
rs1354286685 CA384788217 |
46 | H>Y | No |
ClinGen gnomAD |
|
|
CA236735612 rs983613156 |
47 | I>V | No |
ClinGen gnomAD |
|
|
rs1412293122 CA384788203 |
48 | L>F | No |
ClinGen gnomAD |
|
|
CA236735600 rs951706156 |
51 | F>L | No |
ClinGen Ensembl |
|
|
rs766727382 CA6562329 |
54 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs868049600 CA236735580 |
56 | G>D | No |
ClinGen Ensembl |
|
|
rs1178058016 CA384788145 |
58 | F>L | No |
ClinGen gnomAD |
|
|
CA384788134 rs1468318263 |
59 | F>S | No |
ClinGen gnomAD |
|
|
rs1203048013 CA384788116 |
62 | L>V | No |
ClinGen TOPMed |
|
|
CA236735577 rs1022762667 |
65 | E>D | No |
ClinGen TOPMed |
|
|
CA384788087 rs1439434670 |
66 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384788089 rs1439434670 |
66 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs139125396 CA6562282 |
67 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771650122 CA6562279 |
71 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6562281 rs772726946 |
71 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772726946 CA6562280 |
71 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA384815719 rs7302981 |
75 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6562277 rs7302981 VAR_019558 |
75 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA384815720 rs7302981 |
75 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1362221 rs1266795757 CA384815718 |
75 | C>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs749880471 CA6562276 |
76 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6562275 rs749880471 |
76 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384815706 rs1165477058 |
77 | G>D | No |
ClinGen TOPMed |
|
|
rs572666490 CA6562274 |
77 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6562273 rs199903377 |
79 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA236756181 rs948509161 |
83 | P>L | No |
ClinGen Ensembl |
|
|
CA384815665 rs1325230197 |
83 | P>S | No |
ClinGen gnomAD |
|
|
CA6562272 rs750493869 |
84 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA384815651 rs1157302362 |
85 | Q>R | No |
ClinGen TOPMed |
|
|
CA6562271 rs781293571 |
88 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA384815632 rs781293571 |
88 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1391020805 CA384815627 |
89 | N>D | No |
ClinGen TOPMed |
|
|
rs1412178163 CA384815624 |
89 | N>S | No |
ClinGen gnomAD |
|
|
rs202187358 CA6562270 |
90 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1350019923 CA384815596 |
93 | E>D | No |
ClinGen gnomAD |
|
|
rs751758435 CA6562269 COSM348685 |
93 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6562268 rs765084362 |
94 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6562267 rs199716391 |
94 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766247695 CA6562265 |
97 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs760619313 CA6562264 |
98 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1266693449 CA384815561 |
99 | I>T | No |
ClinGen gnomAD |
|
|
CA6562263 rs772634281 |
100 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6562262 rs372771121 |
101 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA236756121 rs112731520 |
101 | K>M | No |
ClinGen Ensembl |
|
|
CA6562230 rs758656641 |
103 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs758656641 CA6562229 |
103 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA384815519 rs1565781307 |
104 | D>G | No |
ClinGen Ensembl |
|
|
CA384815506 rs1443042310 |
106 | K>E | No |
ClinGen gnomAD |
|
|
CA6562227 rs779766674 |
107 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779985936 CA384815476 |
110 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779985936 CA6562226 |
110 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 111 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384815458 rs750122456 |
113 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6562223 rs757214859 |
117 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1274790322 CA384815415 |
119 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM4150159 CA6562222 rs751147994 |
120 | R>* | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs146511812 CA6562221 |
120 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145574919 CA6562220 |
122 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432107681 CA384815395 |
123 | Q>E | No |
ClinGen TOPMed |
|
|
rs1397463967 CA384815383 |
124 | C>F | No |
ClinGen TOPMed |
|
|
rs1381146753 CA384815388 |
124 | C>R | No |
ClinGen gnomAD |
|
|
rs764729009 CA6562218 |
127 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs547919626 COSM1562064 CA6562217 |
127 | R>H | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6562216 rs776810376 |
129 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406234943 COSM1299486 CA384815350 |
129 | R>W | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs756002736 CA6562214 |
131 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA384815332 rs1165841115 |
132 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1425915332 CA384815307 |
135 | P>S | No |
ClinGen gnomAD |
|
|
CA6562213 rs773326225 |
137 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM940309 CA384815293 rs1182053954 |
137 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6562210 rs779204477 |
142 | C>Y | No |
ClinGen ExAC |
|
|
CA236755671 rs889747975 |
143 | E>K | No |
ClinGen TOPMed |
|
|
CA384815248 rs1160610954 |
144 | S>N | No |
ClinGen gnomAD |
|
|
CA6562209 rs768706679 |
144 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs751697242 CA6562207 |
145 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6562206 rs757302339 |
145 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754705259 CA6562182 |
148 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA384815197 rs1391348220 |
149 | T>I | No |
ClinGen gnomAD |
|
|
CA384815187 rs1174863685 |
151 | Y>H | No |
ClinGen gnomAD |
|
|
rs1217015665 CA384815174 |
152 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA384815164 rs1198965078 |
154 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1434473190 CA384815153 |
155 | F>C | No |
ClinGen gnomAD |
|
|
rs1207777320 CA384815131 |
158 | G>E | No |
ClinGen gnomAD |
|
|
CA6562178 rs750731254 |
163 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6562179 rs146787766 |
163 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384815096 rs146787766 |
163 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6562177 rs768038590 |
164 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA384814938 rs1431553360 |
167 | W>* | No |
ClinGen TOPMed |
|
|
rs757832992 CA6562158 |
170 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384814887 rs1229349533 |
171 | I>T | No |
ClinGen gnomAD |
|
|
rs368640661 CA6562156 |
172 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6562155 rs763130138 |
172 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775661286 CA6562154 |
173 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384814859 rs1341501768 |
174 | C>* | No |
ClinGen gnomAD |
|
|
rs142303472 CA6562153 |
176 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299732758 CA384814837 |
176 | H>Y | No |
ClinGen TOPMed |
|
|
CA236754065 rs1002965733 |
178 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1167444903 CA384814794 |
179 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1221061195 CA384814713 |
182 | P>A | No |
ClinGen gnomAD |
|
|
CA384814682 rs1452433940 |
185 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6562133 rs766551381 |
191 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6562134 rs753998784 |
191 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA384814601 rs1380567215 |
192 | I>F | No |
ClinGen TOPMed |
|
|
CA6562132 rs761523615 |
192 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384814588 rs1289509559 |
193 | M>T | No |
ClinGen gnomAD |
|
|
rs762848453 CA6562129 |
198 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA384814533 rs1374838334 |
198 | Y>H | No |
ClinGen gnomAD |
|
|
rs775033866 CA6562128 |
199 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775033866 CA384814519 |
199 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328180658 CA384814468 |
203 | F>C | No |
ClinGen TOPMed |
|
|
rs769283988 CA6562127 |
205 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6562126 rs745587443 |
206 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1455428434 CA384814434 |
206 | F>L | No |
ClinGen gnomAD |
|
|
rs369848938 CA236753844 |
207 | T>I | No |
ClinGen gnomAD |
|
|
CA384814408 rs1473551869 |
209 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6562124 rs770560896 |
209 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA384814409 rs1473551869 |
209 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6562123 rs747363608 |
212 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281878243 CA384814211 |
219 | V>A | No |
ClinGen gnomAD |
|
|
rs145289538 CA6562104 |
220 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550166869 CA6562103 |
224 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779572740 CA6562102 |
225 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779572740 CA6562101 |
225 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755490776 CA6562100 |
226 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6562098 rs202076776 |
228 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6562099 rs749355460 |
228 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA6562097 rs756343191 |
229 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1391012833 CA384814094 |
231 | S>F | No |
ClinGen gnomAD |
|
|
CA236753472 rs367900841 |
233 | I>L | No |
ClinGen Ensembl |
|
|
rs763946740 CA6562095 |
233 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA236753475 rs367900841 |
233 | I>V | No |
ClinGen Ensembl |
|
|
rs1182906963 CA384814058 |
235 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6562094 rs758195120 |
236 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1355228786 CA384814029 |
237 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1363403779 CA384814020 |
238 | R>* | No |
ClinGen TOPMed |
|
|
rs765182768 CA6562093 |
238 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6562092 rs765182768 |
238 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202417328 CA384814014 |
239 | V>M | No |
ClinGen gnomAD |
|
|
CA236753463 rs765883759 CA6562090 |
244 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759485454 CA6562091 |
244 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6562089 rs760562619 |
247 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319668636 CA384813910 |
249 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384813778 rs1171374333 |
258 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA236753425 rs973456070 |
260 | A>T | No |
ClinGen TOPMed |
|
|
rs764994396 CA6562070 |
264 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384813711 rs1267472470 |
264 | K>R | No |
ClinGen TOPMed |
|
|
rs528429651 CA6562069 |
267 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1463335428 CA384813677 |
267 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1473223446 CA384813647 |
270 | D>N | No |
ClinGen gnomAD |
|
|
CA384813635 rs1363823518 |
271 | T>A | No |
ClinGen gnomAD |
|
|
rs1592343302 CA384813585 |
275 | I>M | No |
ClinGen Ensembl |
|
|
rs766161875 CA6562067 |
275 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1472266129 CA384813569 |
277 | S>G | No |
ClinGen TOPMed |
|
|
CA236753413 rs370837110 |
277 | S>N | No |
ClinGen Ensembl |
|
|
CA236753410 rs767597377 |
278 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6562066 rs143505748 |
279 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6562065 rs772795901 |
281 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1592343192 CA384813529 |
281 | M>V | No |
ClinGen Ensembl |
|
|
rs767307020 CA6562064 |
283 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1423927189 CA384813503 |
283 | T>I | No |
ClinGen TOPMed |
|
|
rs953964494 CA236753401 COSM940306 |
284 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6562062 rs774908527 |
285 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384813471 rs1262502794 |
287 | I>T | No |
ClinGen gnomAD |
|
|
CA6562061 rs200655912 |
287 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763441624 CA6562060 |
288 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1330661525 CA384813443 |
289 | P>L | No |
ClinGen gnomAD |
|
| rs776073108 | 290 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6562058 rs770143351 |
291 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6562008 rs199588307 |
295 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA236753062 rs949709567 |
297 | L>I | No |
ClinGen TOPMed |
|
|
CA6562006 rs758121174 |
300 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA384812751 rs1432726839 |
301 | W>* | No |
ClinGen gnomAD |
|
|
rs1344529583 CA384812731 |
303 | I>V | No |
ClinGen gnomAD |
|
|
CA384812707 rs1402501914 |
305 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6562004 rs764876413 |
307 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1454888114 CA384812646 |
310 | W>* | No |
ClinGen gnomAD |
|
|
CA6562002 rs754153083 |
312 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384812602 rs1464783014 |
313 | L>P | No |
ClinGen gnomAD |
|
|
CA6561999 rs773386865 |
314 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778080098 CA6561998 |
319 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236753031 rs1055229071 |
322 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA384812523 rs1055229071 |
322 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA236753026 rs937758221 |
327 | W>* | No |
ClinGen TOPMed |
|
|
rs765768820 CA6561995 |
333 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572616548 CA6561996 |
333 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6561994 rs745684794 |
337 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6561993 rs776527448 |
338 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384812334 rs1432618041 |
339 | L>S | No |
ClinGen gnomAD |
|
|
CA384812324 rs1361071672 |
340 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1010363124 CA236751832 |
345 | S>L | No |
ClinGen gnomAD |
|
|
rs1054871583 CA236751828 |
348 | D>E | No |
ClinGen Ensembl |
|
|
rs373121500 CA6561939 COSM1362217 |
349 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA384811424 rs1448041472 |
350 | S>T | No |
ClinGen TOPMed |
|
|
rs752772985 CA6561938 |
353 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 353 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747881759 CA6561937 |
359 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6561933 rs755192596 |
364 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384811151 rs1203893730 |
364 | C>S | No |
ClinGen TOPMed |
|
|
rs1393990877 CA384811131 |
365 | T>R | No |
ClinGen gnomAD |
|
|
rs1167113068 CA384811039 |
370 | D>Y | No |
ClinGen gnomAD |
|
|
CA6561931 rs767329894 |
371 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6561932 rs767329894 |
371 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6561930 rs761804435 |
372 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384810969 rs1479597924 |
373 | S>F | No |
ClinGen TOPMed |
|
|
rs1185780995 CA384810960 |
374 | S>G | No |
ClinGen gnomAD |
|
|
rs1192115111 CA384810927 |
375 | N>K | No |
ClinGen gnomAD |
|
|
CA6561929 rs774274043 |
375 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258358483 CA384810885 |
378 | N>S | No |
ClinGen gnomAD |
|
|
CA6561928 rs763963160 |
378 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6561927 rs147527651 |
379 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149716057 CA6561925 |
379 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6561926 rs147527651 |
379 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1272644311 CA384810855 |
380 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384810784 rs1209725030 |
384 | M>V | No |
ClinGen gnomAD |
|
|
rs1341967141 CA384810747 |
386 | G>S | No |
ClinGen gnomAD |
|
|
CA6561923 rs776921457 |
388 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384810703 rs1430972765 |
388 | Y>C | No |
ClinGen TOPMed |
|
|
CA6561924 rs139405697 |
388 | Y>H | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 391 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q8N5B7
1 regional properties for Q8N5B7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Phosphatidylethanolamine-binding, conserved site | 66 - 88 | IPR001858 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.24 | 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 membrane | The component of a 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 |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| N-acyltransferase activity | Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule. |
| sphingosine N-acyltransferase activity | Catalysis of the reaction: acyl-CoA + sphingosine = CoA + N-acylsphingosine. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| ceramide biosynthetic process | The chemical reactions and pathways resulting in the formation of ceramides, any N-acylated sphingoid. |
| 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). |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38703 | LAG1 | Ceramide synthase LAG1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3ZBF8 | CERS2 | Ceramide synthase 2 | Bos taurus (Bovine) | PR |
| Q5E9R6 | CERS4 | Ceramide synthase 4 | Bos taurus (Bovine) | PR |
| Q8IU89 | CERS3 | Ceramide synthase 3 | Homo sapiens (Human) | PR |
| Q96G23 | CERS2 | Ceramide synthase 2 | Homo sapiens (Human) | PR |
| Q6ZMG9 | CERS6 | Ceramide synthase 6 | Homo sapiens (Human) | PR |
| Q9D6J1 | Cers4 | Ceramide synthase 4 | Mus musculus (Mouse) | PR |
| Q924Z4 | Cers2 | Ceramide synthase 2 | Mus musculus (Mouse) | PR |
| Q8C172 | Cers6 | Ceramide synthase 6 | Mus musculus (Mouse) | PR |
| Q9D6K9 | Cers5 | Ceramide synthase 5 | Mus musculus (Mouse) | PR |
| Q6YWS8 | Os02g0728300 | ASC1-like protein 2 | Oryza sativa subsp japonica (Rice) | PR |
| G5ED45 | hyl-1 | Ceramide synthase hyl-1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATAAQGPLS | LLWGWLWSER | FWLPENVSWA | DLEGPADGYG | YPRGRHILSV | FPLAAGIFFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLLFERFIAK | PCALCIGIED | SGPYQAQPNA | ILEKVFISIT | KYPDKKRLEG | LSKQLDWNVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KIQCWFRHRR | NQDKPPTLTK | FCESMWRFTF | YLCIFCYGIR | FLWSSPWFWD | IRQCWHNYPF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QPLSSGLYHY | YIMELAFYWS | LMFSQFTDIK | RKDFLIMFVH | HLVTIGLISF | SYINNMVRVG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TLIMCLHDVS | DFLLEAAKLA | NYAKYQRLCD | TLFVIFSAVF | MVTRLGIYPF | WILNTTLFES |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WEIIGPYASW | WLLNGLLLTL | QLLHVIWSYL | IARIALKALI | RGKVSKDDRS | DVESSSEEED |
| 370 | 380 | 390 | |||
| VTTCTKSPCD | SSSSNGANRV | NGHMGGSYWA | EE |