Q8IU89
PR
Gene name |
CERS3 |
Protein name |
Ceramide synthase 3 |
Names |
CerS3, Dihydroceramide synthase 3, LAG1 longevity assurance homolog 3, Sphingosine N-acyltransferase CERS3, Ultra-long-chain ceramide synthase CERS3, Very-long-chain ceramide synthase CERS3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:204219 |
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 Q8IU89
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IU89-F1 | Predicted | AlphaFoldDB |
328 variants for Q8IU89
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000054808 CA10575600 CA7759198 rs762679102 |
15 | W>R | Autosomal recessive congenital ichthyosis 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000991456 rs1596772428 |
16 | L>missing | Autosomal recessive congenital ichthyosis 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000954155 RCV002547247 rs148139207 CA7759149 |
60 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1178676096 RCV000985211 CA393942005 RCV003169520 |
177 | S>F | Variant assessed as Somatic; 0.0 impact. Autosomal recessive congenital ichthyosis 9 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000782388 CA393941013 rs1567644030 |
244 | W>* | Autosomal recessive congenital ichthyosis 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 2 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7759205 rs554729137 |
3 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781323689 CA7759204 |
4 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7759200 rs751463099 |
8 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA393947336 rs1410884588 |
8 | W>C | No |
ClinGen gnomAD |
|
|
CA7759199 rs200407745 |
9 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA275552307 CA393947305 rs916014354 |
10 | W>C | No |
ClinGen TOPMed |
|
|
rs1376226172 CA393947281 |
12 | E>G | No |
ClinGen Ensembl |
|
|
rs1284713093 CA393947263 |
13 | R>S | No |
ClinGen TOPMed |
|
|
CA393947257 rs1446258628 |
14 | F>L | No |
ClinGen TOPMed |
|
|
CA7759197 rs201614149 |
16 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1239201822 CA393947199 |
18 | P>S | No |
ClinGen TOPMed |
|
|
CA7759196 rs764833703 |
19 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA393947173 rs1188753964 |
19 | T>I | No |
ClinGen TOPMed |
|
|
rs767701158 CA275552294 |
22 | W>C | No |
ClinGen Ensembl |
|
|
rs1208851852 CA393947044 |
25 | L>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 28 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7759194 rs777100799 |
28 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7759192 rs374417782 |
29 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7759191 rs773573260 |
29 | D>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000909041 CA7759189 rs146289102 |
31 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM3420172 rs142269983 CA7759187 |
32 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749381899 CA275552257 |
34 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs749381899 CA7759186 |
34 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770746679 CA275552253 |
36 | P>A | No |
ClinGen Ensembl |
|
|
CA393946867 rs1156926116 |
36 | P>H | No |
ClinGen gnomAD |
|
|
rs138998383 CA7759183 |
39 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200391197 CA7759181 |
41 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7759179 rs752363146 COSM416543 |
44 | P>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
VAR_061847 CA7759178 rs60405735 |
45 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA393946675 rs1442988151 |
48 | L>P | No |
ClinGen gnomAD |
|
|
rs114955602 CA275552220 |
51 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7759176 rs114955602 |
51 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7759177 rs754497395 |
51 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393946591 rs1354332 |
53 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767959919 CA7759172 |
54 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199880090 CA7759171 RCV000420950 |
54 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs199880090 CA393946581 |
54 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393946589 rs767959919 |
54 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768823259 CA7759169 |
57 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1291683832 CA393944355 |
59 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs547575692 CA7759150 |
59 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 61 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204098459 CA393944321 |
62 | S>L | No |
ClinGen gnomAD |
|
|
CA393944318 rs1335672012 |
63 | P>A | No |
ClinGen gnomAD |
|
|
CA393944320 rs1335672012 |
63 | P>S | No |
ClinGen gnomAD |
|
|
CA7759148 rs775669527 |
65 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs769961690 CA7759147 |
69 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1289523451 CA393944269 |
71 | K>E | No |
ClinGen gnomAD |
|
|
rs1445957999 CA393944267 |
71 | K>T | No |
ClinGen TOPMed |
|
|
CA7759146 rs367813115 |
72 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238905168 CA393944254 |
73 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7759144 rs747911784 COSM959562 |
75 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA393944243 rs747911784 |
75 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904261909 CA275547404 COSM959561 |
75 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7759142 rs768251163 |
77 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7759141 rs768251163 |
77 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs748973704 CA7759140 |
78 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs968377426 CA275547401 |
79 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7759139 rs148839081 |
80 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7759138 rs755603360 |
80 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs989762007 CA275547398 |
81 | T>A | No |
ClinGen Ensembl |
|
|
rs199905282 CA7759137 |
81 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1408659686 CA393944198 |
83 | L>* | No |
ClinGen TOPMed |
|
|
CA393944188 rs1453748824 COSM170226 |
84 | E>D | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA393944180 rs1249594911 |
85 | N>K | No |
ClinGen gnomAD |
|
|
CA7759135 rs757715738 |
86 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 87 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393944163 rs1314811802 |
88 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393944152 rs1381174561 |
89 | H>L | No |
ClinGen TOPMed |
|
|
rs751899957 CA7759134 |
89 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764408513 CA7759133 |
91 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA393944139 rs764408513 |
91 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs895628556 CA275547377 |
92 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1056986147 CA275547374 |
93 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1031195662 CA275547371 |
95 | L>F | No |
ClinGen gnomAD |
|
|
CA7759132 rs763444556 |
96 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7759098 rs201025462 |
97 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7759096 rs770299041 |
98 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369847994 CA7759094 |
99 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369847994 CA275545001 |
99 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7759095 rs746543071 |
99 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7759093 rs759040574 |
100 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7759092 rs146596812 |
106 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7759091 rs779468528 |
106 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755194700 CA7759090 |
107 | N>T | No |
ClinGen ExAC gnomAD |
|
|
COSM265717 rs138661052 CA7759088 |
109 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM959560 CA7759085 rs565321595 |
111 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs565321595 CA393943166 |
111 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7759083 rs762930624 |
111 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7759084 rs762930624 |
111 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7759081 rs764980198 |
113 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7759080 rs759399793 |
115 | R>T | No |
ClinGen ExAC |
|
|
CA393943136 rs1460605054 |
116 | W>R | No |
ClinGen gnomAD |
|
|
CA7759077 rs746497056 |
120 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7759078 rs563311139 |
120 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1213122 rs563532463 CA7759075 |
121 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7759076 rs185909467 |
121 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748704734 CA7759074 |
125 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899362537 CA275544927 |
127 | S>A | No |
ClinGen TOPMed |
|
|
rs779593270 CA7759073 |
127 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023979736 CA275544922 |
128 | R>G | No |
ClinGen Ensembl |
|
|
CA7759071 rs555208886 |
129 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393943022 rs1419508162 |
133 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1234565098 CA393943008 |
135 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7759070 rs375923269 |
136 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393942974 rs1596734073 |
138 | R>G | No |
ClinGen Ensembl |
|
|
rs772816451 CA7759058 |
140 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7759057 rs771667063 |
141 | F>C | No |
ClinGen ExAC TOPMed |
|
|
CA275542385 rs974238188 |
144 | M>I | No |
ClinGen Ensembl |
|
|
CA275542383 rs920263704 |
145 | I>N | No |
ClinGen TOPMed |
|
|
rs761428245 CA7759056 |
147 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1157228328 CA393942858 |
148 | A>V | No |
ClinGen gnomAD |
|
|
CA7759054 rs371927785 |
149 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393942822 rs372884134 |
151 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7759053 rs372884134 |
151 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1466811733 CA393942800 |
152 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 158 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 160 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770150152 CA7759023 |
161 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1364192378 CA393942570 |
162 | L>S | No |
ClinGen gnomAD |
|
|
CA7759022 rs746246908 |
163 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1268425589 CA393942556 |
163 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393942520 rs1567648942 |
165 | V>F | No |
ClinGen Ensembl |
|
|
rs781326893 CA7759021 |
168 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315244862 CA393942427 |
170 | P>L | No |
ClinGen gnomAD |
|
|
COSM1323740 rs1270729518 CA393942419 |
171 | K>* | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1162723470 CA393942061 |
173 | P>L | No |
ClinGen gnomAD |
|
|
rs967263088 CA275540109 |
176 | P>S | No |
ClinGen Ensembl |
|
|
rs1020444249 CA275540105 |
178 | Q>R | No |
ClinGen Ensembl |
|
|
CA7759002 rs771120213 |
179 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014049875 CA275540104 |
184 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA393941898 rs1198154626 |
184 | L>V | No |
ClinGen gnomAD |
|
|
CA275540099 rs895569436 |
185 | E>K | No |
ClinGen Ensembl |
|
|
rs372814367 CA275540095 |
186 | M>T | No |
ClinGen Ensembl |
|
|
CA393941851 rs1275054952 |
187 | S>N | No |
ClinGen gnomAD |
|
|
rs1596727432 CA393941833 |
189 | Y>F | No |
ClinGen Ensembl |
|
| TCGA novel | 193 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243291448 CA393941767 |
199 | D>H | No |
ClinGen gnomAD |
|
|
CA7759001 rs747270777 |
202 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs760185474 CA7758984 |
204 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA393941275 rs1353347368 |
204 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7758983 rs773425420 |
206 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA393941236 rs1567644327 |
210 | I>V | No |
ClinGen Ensembl |
|
|
CA275538234 rs933999118 |
211 | H>Y | No |
ClinGen Ensembl |
|
|
rs1064795328 RCV000483024 CA16619901 |
212 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769828785 CA7758979 |
214 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA275538198 rs942664952 |
215 | A>V | No |
ClinGen Ensembl |
|
|
CA7758978 rs199763147 |
216 | I>V | Variant assessed as Somatic; 0.0002323 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393941177 rs1188810009 |
219 | M>T | No |
ClinGen gnomAD |
|
|
rs1250508672 CA393941154 |
222 | S>A | No |
ClinGen gnomAD |
|
|
CA275538185 rs140343630 |
223 | W>L | No |
ClinGen ESP gnomAD |
|
|
CA7758975 rs757063256 |
224 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA7758976 rs757063256 |
224 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs569753993 CA7758974 |
224 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7758973 rs777479343 |
225 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA393941128 rs1314095316 |
226 | N>S | No |
ClinGen TOPMed |
|
|
CA393941130 rs1253879648 |
226 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3420171 CA393941108 rs758046951 |
229 | R>C | liver large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM199218 CA7758971 rs752230253 |
229 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758046951 CA7758972 |
229 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393941104 rs1297043950 |
230 | S>G | No |
ClinGen gnomAD |
|
|
rs548362259 CA393941102 |
230 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7758970 rs548362259 |
230 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 232 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393941084 rs1468353473 |
233 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754294287 CA7758968 |
234 | V>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373080717 CA7758969 |
234 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs115411592 CA7758967 |
237 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA275538097 rs967230702 |
238 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs116521824 CA7758966 |
238 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM75218 rs767763454 CA7758964 |
239 | D>N | ovary Variant assessed as Somatic; 0.0 impact. large_intestine skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7758963 rs371641623 |
239 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263063659 CA393941040 |
240 | V>A | No |
ClinGen gnomAD |
|
|
rs1486851035 CA393941022 |
243 | I>V | No |
ClinGen gnomAD |
|
|
rs1172693320 CA393941009 |
244 | W>* | No |
ClinGen TOPMed |
|
|
CA7758936 rs747949926 |
248 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393940504 rs1163105878 |
254 | A>S | No |
ClinGen gnomAD |
|
|
rs779586622 CA7758932 |
255 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1183288670 CA393940459 |
257 | T>A | No |
ClinGen TOPMed |
|
|
CA7758931 rs756608778 |
257 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 257 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015009742 CA275535794 |
259 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781730763 CA7758929 |
260 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7758928 rs757498933 |
262 | T>A | No |
ClinGen ExAC |
|
|
CA393940343 rs200925198 |
262 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000950804 rs200925198 CA7758927 |
262 | T>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1205562769 CA393940325 |
263 | L>P | No |
ClinGen gnomAD |
|
|
CA7758925 rs758743159 |
266 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393940250 rs1402384316 |
267 | F>S | No |
ClinGen TOPMed |
|
|
rs765193339 CA7758923 |
268 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs752795618 CA7758924 |
268 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA275535773 rs777328609 |
269 | T>A | No |
ClinGen gnomAD |
|
|
rs114499429 CA275535744 |
270 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114499429 CA7758920 |
270 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1157182443 CA393940173 |
272 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418767543 CA393940145 |
273 | I>T | No |
ClinGen gnomAD |
|
|
rs761591750 CA7758919 |
275 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs143625266 COSM287195 CA7758918 |
275 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143625266 CA275535741 |
275 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1175600023 CA393940089 |
277 | I>T | No |
ClinGen TOPMed |
|
|
CA7758916 rs557826222 |
278 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs557826222 CA7758915 |
278 | V>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA275535692 COSM137633 rs867892206 |
280 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| rs745390684 | 281 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7758914 rs769131621 |
281 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393937891 rs1238919586 |
282 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1215585522 CA393940005 |
282 | W>L | No |
ClinGen gnomAD |
|
|
CA393937872 rs1212547270 |
285 | Y>C | No |
ClinGen gnomAD |
|
|
CA7758894 rs771534407 COSM167100 |
287 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1247411829 CA393937858 |
287 | T>S | No |
ClinGen TOPMed |
|
|
rs758776012 CA7758891 |
289 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393937848 rs1192568271 |
289 | I>N | No |
ClinGen TOPMed |
|
|
rs1192568271 CA393937846 |
289 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 290 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs893020176 CA275525892 |
290 | L>W | No |
ClinGen Ensembl |
|
|
rs1356513025 CA393937838 |
291 | P>A | No |
ClinGen gnomAD |
|
|
CA275525879 rs1053365979 |
291 | P>R | No |
ClinGen Ensembl |
|
|
rs934550883 CA275525855 CA275525861 |
292 | M>I | No |
ClinGen TOPMed |
|
|
rs748548226 CA7758890 |
292 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs535341563 CA7758889 |
293 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs114065539 CA7758888 |
294 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA275525812 rs1011622454 |
294 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1169872873 CA393937814 |
295 | L>F | No |
ClinGen gnomAD |
|
|
rs190014784 CA393937804 |
296 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7758885 rs756215155 |
296 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756215155 CA7758886 |
296 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA275525775 rs986519936 |
297 | P>L | No |
ClinGen TOPMed |
|
|
rs764026260 CA393937801 |
297 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764026260 CA7758883 |
297 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762734156 CA7758882 |
299 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA393937753 rs1411090750 |
304 | L>V | No |
ClinGen gnomAD |
|
|
rs1256164950 CA393937742 |
305 | N>K | No |
ClinGen gnomAD |
|
|
CA7758880 rs114830030 |
305 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7758879 rs759273198 |
306 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA275525717 rs77986502 |
307 | Q>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1398188381 CA393937734 |
307 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1378065861 CA393937719 |
309 | M>T | No |
ClinGen gnomAD |
|
|
rs984099071 CA393937713 |
310 | I>F | No |
ClinGen gnomAD |
|
|
rs984099071 CA275525712 |
310 | I>V | No |
ClinGen gnomAD |
|
|
CA7758874 rs372193781 |
314 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461943366 CA393937661 |
315 | H>Q | No |
ClinGen gnomAD |
|
|
CA393937657 rs950942254 |
316 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs17856816 CA275525691 |
316 | L>R | No |
ClinGen Ensembl |
|
|
CA275525693 rs950942254 |
316 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1030897658 CA275525690 |
317 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs536658950 CA7758873 |
318 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393937633 rs1567630109 |
318 | W>G | No |
ClinGen Ensembl |
|
|
CA393937615 rs1423018938 |
319 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA275525679 rs976155135 |
320 | Y>F | No |
ClinGen Ensembl |
|
|
rs1596692464 CA393937566 |
322 | I>M | No |
ClinGen Ensembl |
|
|
CA7758871 rs779382584 |
324 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA7758870 rs768726801 |
328 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs749483504 CA7758869 |
329 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749483504 CA275525650 |
329 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747080534 CA275525615 |
331 | F>C | No |
ClinGen gnomAD |
|
|
rs756125448 CA7758867 |
332 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 334 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394534894 rs1433153745 |
334 | S>N | No |
ClinGen gnomAD |
|
|
rs766114353 CA7758840 |
334 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366310126 CA394534881 |
336 | Q>* | No |
ClinGen TOPMed |
|
|
CA394534880 rs1196371213 |
336 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1196371213 CA394534879 |
336 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755879593 CA7758839 |
338 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375351282 CA7758838 |
340 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA275953169 rs886192195 |
341 | D>N | No |
ClinGen TOPMed |
|
|
rs1023783 CA7758836 VAR_057276 |
342 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7758837 rs562178951 |
342 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001171687 rs145849861 CA7758834 |
343 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394534816 rs1216649699 |
345 | Y>C | No |
ClinGen gnomAD |
|
|
rs763365507 CA7758833 |
346 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA394534795 rs1596592327 |
348 | E>* | No |
ClinGen Ensembl |
|
|
CA394534782 rs1334504967 |
349 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA275953160 rs1004558675 |
351 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 352 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567583491 CA394534765 |
352 | E>Q | No |
ClinGen Ensembl |
|
|
rs1404574749 CA394534753 |
353 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1392551498 CA394534748 COSM959553 |
354 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs541833197 RCV000895614 |
354 | E>missing | No |
ClinVar dbSNP |
|
|
CA394534745 rs1567583448 |
354 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 356 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477105561 CA394534711 |
359 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1423384225 COSM554366 CA394534698 |
361 | E>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs776861443 CA7758827 |
361 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs776861443 CA394534697 |
361 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs577854100 CA7758826 |
362 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406686382 CA394534688 |
362 | M>R | No |
ClinGen TOPMed |
|
|
CA394534692 rs1394816253 |
362 | M>V | No |
ClinGen TOPMed |
|
|
rs778903242 CA7758824 |
363 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7758825 rs747065202 |
363 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA394534677 rs1457825017 |
364 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1457825017 CA394534678 |
364 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs137899535 CA7758821 |
368 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7758820 rs756000187 |
369 | L>F | No |
ClinGen ExAC gnomAD |
|
|
VAR_019328 CA7758818 rs2439928 |
370 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199572545 CA7758817 |
370 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7758816 COSM328359 rs199572545 |
370 | R>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs548329989 CA7758814 |
370 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394534638 rs2439928 |
370 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290850507 CA394534635 |
371 | A>T | No |
ClinGen TOPMed |
|
|
CA7758812 rs115420351 RCV000947650 |
373 | R>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs115420351 CA7758813 |
373 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7758811 rs376437807 |
374 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760794032 CA7758808 |
377 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7758809 rs771126884 |
377 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7758810 rs771126884 |
377 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7758807 rs374471175 |
378 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367015602 CA394534581 |
379 | G>V | No |
ClinGen gnomAD |
|
|
CA394534574 rs1193121637 |
380 | Q>H | No |
ClinGen TOPMed |
|
|
rs768605959 CA7758806 |
381 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7758804 rs780158502 |
382 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA275953128 rs751421614 |
384 | H>Y | No |
ClinGen Ensembl |
1 associated diseases with Q8IU89
[MIM: 615023]: Ichthyosis, congenital, autosomal recessive 9 (ARCI9)
A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:23754960}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:23754960}. Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for Q8IU89
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cadherin-like | 34 - 133 | IPR002126-1 |
| domain | Cadherin-like | 142 - 242 | IPR002126-2 |
| domain | Cadherin-like | 242 - 350 | IPR002126-3 |
| domain | Cadherin-like | 351 - 565 | IPR002126-4 |
| domain | Cadherin-like | 581 - 678 | IPR002126-5 |
| domain | Cadherin, N-terminal | 30 - 111 | IPR013164 |
| conserved_site | Cadherin conserved site | 230 - 240 | IPR020894-1 |
| conserved_site | Cadherin conserved site | 443 - 453 | IPR020894-2 |
| conserved_site | Cadherin conserved site | 553 - 563 | IPR020894-3 |
| domain | Cadherin, C-terminal catenin-binding domain | 800 - 933 | IPR031904 |
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. |
5 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. |
| cornification | A type of programmed cell death that occurs in the epidermis, morphologically and biochemically distinct from apoptosis. It leads to the formation of corneocytes, i.e. dead keratinocytes containing an amalgam of specific proteins (e.g., keratin, loricrin, SPR and involucrin) and lipids (e.g., fatty acids and ceramides), which are necessary for the function of the cornified skin layer (mechanical resistance, elasticity, water repellence and structural stability). |
| epidermis development | The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. |
| keratinocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. |
| 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 |
| Q96G23 | CERS2 | Ceramide synthase 2 | Homo sapiens (Human) | PR |
| Q6ZMG9 | CERS6 | Ceramide synthase 6 | Homo sapiens (Human) | PR |
| Q8N5B7 | CERS5 | Ceramide synthase 5 | Homo sapiens (Human) | PR |
| Q9D6J1 | Cers4 | Ceramide synthase 4 | Mus musculus (Mouse) | PR |
| Q924Z4 | Cers2 | Ceramide synthase 2 | Mus musculus (Mouse) | PR |
| Q9D6K9 | Cers5 | Ceramide synthase 5 | Mus musculus (Mouse) | PR |
| Q8C172 | Cers6 | Ceramide synthase 6 | 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 |
| MFWTFKEWFW | LERFWLPPTI | KWSDLEDHDG | LVFVKPSHLY | VTIPYAFLLL | IIRRVFEKFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ASPLAKSFGI | KETVRKVTPN | TVLENFFKHS | TRQPLQTDIY | GLAKKCNLTE | RQVERWFRSR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RNQERPSRLK | KFQEACWRFA | FYLMITVAGI | AFLYDKPWLY | DLWEVWNGYP | KQPLLPSQYW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YYILEMSFYW | SLLFRLGFDV | KRKDFLAHII | HHLAAISLMS | FSWCANYIRS | GTLVMIVHDV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADIWLESAKM | FSYAGWTQTC | NTLFFIFSTI | FFISRLIVFP | FWILYCTLIL | PMYHLEPFFS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YIFLNLQLMI | LQVLHLYWGY | YILKMLNRCI | FMKSIQDVRS | DDEDYEEEEE | EEEEEATKGK |
| 370 | 380 | ||||
| EMDCLKNGLR | AERHLIPNGQ | HGH |