O75845
PR
Gene name |
SC5D |
Protein name |
Lathosterol oxidase |
Names |
C-5 sterol desaturase, Delta(7)-sterol 5-desaturase, Delta(7)-sterol C5(6)-desaturase, Lathosterol 5-desaturase, Sterol-C5-desaturase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6309 |
EC number |
1.14.19.20: With oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water |
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 O75845
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75845-F1 | Predicted | AlphaFoldDB |
230 variants for O75845
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs104894295 VAR_014423 RCV000007779 CA118734 |
29 | R>Q | Lathosterolosis Variant assessed as Somatic; 0.0 impact. LATHOS [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA118738 VAR_020829 RCV000007781 rs104894297 |
46 | Y>S | Lathosterolosis LATHOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA383026309 RCV001107760 rs1565568966 |
51 | T>A | Lathosterolosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1947941103 RCV001107761 |
61 | A>T | Lathosterolosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1313359281 CA383027082 RCV000791037 RCV002535825 COSM924035 |
75 | R>* | Lathosterolosis Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000298324 CA6328078 rs780028779 COSM170736 |
75 | R>Q | Lathosterolosis Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001869429 RCV001002105 CA229856502 rs775350797 |
148 | K>E | Lathosterolosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1947971579 RCV001171521 |
160 | P>R | Lathosterolosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144180704 RCV001104114 RCV000908590 CA6328193 |
182 | I>V | Lathosterolosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001104115 rs1947973083 |
208 | I>M | Lathosterolosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001171520 CA383030081 rs760167278 |
210 | D>E | Lathosterolosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000007780 VAR_014424 CA118736 rs104894296 |
211 | G>D | Lathosterolosis LATHOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001104116 rs1947973564 |
221 | P>L | Lathosterolosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6328014 rs754367775 |
2 | D>G | No |
ClinGen ExAC |
|
|
CA383025783 rs1314421341 |
3 | L>V | No |
ClinGen TOPMed |
|
|
rs530515948 CA6328015 |
5 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 5 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138026842 CA6328016 |
6 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6328017 rs370681255 |
6 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370681255 CA229853383 |
6 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780390547 CA6328019 |
8 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs141930747 CA6328018 |
8 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383025860 rs1312339895 |
11 | Y>C | No |
ClinGen gnomAD |
|
|
CA383025858 rs1312339895 |
11 | Y>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383025864 rs1344999034 |
12 | F>I | No |
ClinGen Ensembl |
|
| rs1185907700 | 13 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258520332 CA383025877 |
13 | F>L | No |
ClinGen TOPMed |
|
|
rs1376088223 CA383025895 |
14 | T>I | No |
ClinGen gnomAD |
|
|
rs755120774 CA6328021 |
17 | V>E | No |
ClinGen ExAC |
|
|
CA383025918 rs1240163598 |
17 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs781370638 CA6328022 COSM541378 |
19 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs567132198 CA6328023 |
20 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383025958 rs1279164614 |
21 | T>S | No |
ClinGen gnomAD |
|
|
rs774144359 CA6328025 |
22 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771701236 CA6328027 |
24 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6328026 rs535006007 |
24 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383026006 rs1290832394 |
25 | D>E | No |
ClinGen TOPMed |
|
|
CA6328029 rs760275444 |
25 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6328028 rs775226186 |
25 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1232164381 CA383026020 |
27 | I>L | No |
ClinGen TOPMed |
|
|
CA6328030 rs756641010 |
29 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs764748869 CA229853501 |
30 | Q>* | No |
ClinGen Ensembl |
|
|
rs372774910 CA6328032 |
32 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs985756465 CA229853517 |
33 | S>G | No |
ClinGen Ensembl |
|
|
rs927217561 CA229853520 |
33 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383026103 rs1392535559 |
34 | L>P | No |
ClinGen gnomAD |
|
|
CA383026111 rs1331473729 |
35 | L>R | No |
ClinGen gnomAD |
|
|
CA229853524 rs760519059 |
39 | N>D | No |
ClinGen gnomAD |
|
|
rs760519059 CA383026150 |
39 | N>H | No |
ClinGen gnomAD |
|
|
CA383026155 rs1565568906 |
39 | N>S | No |
ClinGen Ensembl |
|
|
CA229853533 rs534057534 |
41 | G>C | No |
ClinGen gnomAD |
|
|
rs534057534 CA383026174 |
41 | G>S | No |
ClinGen gnomAD |
|
|
rs1463404277 CA383026185 |
42 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6328033 rs750889568 |
42 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766593498 CA6328036 |
43 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6328035 rs766593498 |
43 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA6328037 rs755292471 |
45 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1196249216 CA383026231 |
45 | L>P | No |
ClinGen gnomAD |
|
|
CA383026240 rs104894297 |
46 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6328038 rs748296373 |
48 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055144144 CA229853582 |
50 | A>S | No |
ClinGen TOPMed |
|
|
CA383026305 rs1250250949 |
50 | A>V | No |
ClinGen TOPMed |
|
|
rs1192802427 CA383026354 |
54 | Y>C | No |
ClinGen gnomAD |
|
|
rs778919181 CA6328040 |
55 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558820432 CA6328041 |
57 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6328043 rs148156529 |
59 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383026410 rs148156529 |
59 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383026503 rs202105637 CA6328045 |
63 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170105159 CA383026494 |
63 | M>T | No |
ClinGen gnomAD |
|
|
CA6328046 rs199546863 |
64 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 65 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377640597 CA383026552 |
66 | P>R | No |
ClinGen gnomAD |
|
|
rs753911880 CA383027032 |
72 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6328076 rs753911880 |
72 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs142031519 CA6328077 COSM1224739 |
74 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762728349 CA383027073 |
74 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383027079 rs762728349 |
74 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383027084 rs780028779 |
75 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221482911 CA383027093 |
76 | E>A | No |
ClinGen TOPMed |
|
|
rs751428422 CA6328079 |
81 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA383027212 rs1306108295 |
83 | A>T | No |
ClinGen gnomAD |
|
|
CA6328081 rs780916225 |
86 | W>C | No |
ClinGen ExAC |
|
| TCGA novel | 86 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383027274 rs1241382389 |
87 | I>L | No |
ClinGen gnomAD |
|
|
rs747864647 CA6328083 |
90 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1318464799 CA383027361 |
91 | T>I | No |
ClinGen gnomAD |
|
|
CA6328084 rs769370760 |
93 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176968853 CA383027433 |
96 | L>W | No |
ClinGen gnomAD |
|
|
CA229854544 rs367613150 |
98 | E>D | No |
ClinGen ESP |
|
|
CA6328086 rs748818735 |
99 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251614258 CA383027464 |
99 | I>V | No |
ClinGen gnomAD |
|
|
rs770499900 CA383027497 |
101 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs907885684 CA229854576 |
101 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770499900 CA6328087 |
101 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6328089 rs760074441 |
107 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA6328090 rs772599957 |
108 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA383027620 rs1360822726 |
108 | D>N | No |
ClinGen gnomAD |
|
|
CA383027730 rs1301468278 |
113 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761081505 CA6328092 |
114 | Y>C | No |
ClinGen ExAC |
|
| TCGA novel | 116 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 119 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383028048 rs1163997112 |
119 | L>H | No |
ClinGen TOPMed |
|
|
rs35536707 CA6328120 |
121 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138907200 CA6328121 |
123 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778688994 CA6328123 |
123 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138907200 CA6328122 |
123 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745432119 CA229856404 |
124 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374351203 CA6328125 |
124 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs948838311 CA229856410 |
124 | I>T | No |
ClinGen TOPMed |
|
|
rs745432119 CA6328124 |
124 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6328128 rs747487483 |
132 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383028179 rs1291553688 |
132 | M>K | No |
ClinGen gnomAD |
|
|
rs907365711 CA229856441 |
133 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768923312 CA6328129 |
134 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777014268 CA6328130 |
135 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417104311 CA383028260 |
136 | W>* | No |
ClinGen gnomAD |
|
|
CA6328131 rs748479057 |
136 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA383028272 rs1475398906 |
137 | I>V | No |
ClinGen gnomAD |
|
|
CA383028362 rs770048983 |
140 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6328132 rs770048983 |
140 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406055563 CA383028392 |
142 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6328133 rs773419961 |
143 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA383028444 rs1160124045 |
144 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383028473 rs763026861 |
146 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745945948 CA6328134 |
146 | V>K | No |
ClinGen ExAC gnomAD |
|
|
rs763026861 CA6328135 |
146 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770986028 CA6328136 |
147 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1450599623 CA383028539 |
148 | K>N | No |
ClinGen gnomAD |
|
|
CA6328179 rs142025005 |
149 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372030710 CA6328180 |
149 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373383957 CA6328182 |
151 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359279182 CA383028778 |
151 | H>Y | No |
ClinGen gnomAD |
|
|
CA229857127 rs1045031833 |
156 | I>T | No |
ClinGen Ensembl |
|
|
CA383029057 rs1353543186 |
159 | I>M | No |
ClinGen gnomAD |
|
|
rs146322594 CA6328184 |
160 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383029102 rs1313249063 |
162 | P>A | No |
ClinGen gnomAD |
|
|
CA6328186 rs756654792 |
164 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383029190 rs1260386081 |
165 | S>G | No |
ClinGen gnomAD |
|
|
CA229857189 rs867994042 |
169 | H>Y | No |
ClinGen Ensembl |
|
|
rs139637037 CA229857190 |
171 | I>V | No |
ClinGen ESP |
|
|
CA6328188 rs764566210 |
173 | G>A | No |
ClinGen ExAC |
|
|
rs1565570287 CA383029413 |
174 | F>I | No |
ClinGen Ensembl |
|
|
rs777476269 CA229857204 |
176 | Q>E | No |
ClinGen Ensembl |
|
|
rs754288880 CA6328189 |
176 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1182798978 CA383029515 |
177 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757562608 CA6328190 |
179 | P>S | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6328191 rs779204454 |
180 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs746016466 CA6328192 |
181 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6328194 rs780238470 |
182 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs747051432 CA6328195 |
183 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 184 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239820473 CA383029700 |
185 | F>C | No |
ClinGen TOPMed |
|
|
CA383029698 rs1239820473 |
185 | F>Y | No |
ClinGen TOPMed |
|
|
CA229857234 rs1056187552 |
188 | P>A | No |
ClinGen Ensembl |
|
|
rs1465426900 CA383029739 |
188 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383029736 rs1465426900 |
188 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs769900227 CA6328196 |
189 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1223198009 CA383029753 |
190 | H>Y | No |
ClinGen TOPMed |
|
|
CA383029768 rs1389492973 |
191 | K>R | No |
ClinGen gnomAD |
|
|
rs773269151 CA6328197 |
192 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749173837 CA6328199 |
194 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs376481131 CA6328200 |
196 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1305350298 CA383029842 |
198 | Y>H | No |
ClinGen TOPMed |
|
|
rs144254550 CA6328201 |
200 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6328203 rs767126672 |
203 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA6328204 rs775033618 |
205 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1237177836 CA383029972 |
206 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1454877350 CA383030017 |
208 | I>V | No |
ClinGen TOPMed |
|
|
CA6328207 rs757168329 |
211 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6328206 rs757168329 |
211 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757650933 CA6328208 |
214 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148689830 CA6328209 |
214 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1176651647 CA383030147 |
215 | V>I | No |
ClinGen gnomAD |
|
|
CA229857350 rs370879876 RCV000722338 |
217 | Q>* | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
CA6328211 rs373065072 |
217 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6328212 rs546458364 |
218 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1262313527 CA383030208 |
220 | Q>E | No |
ClinGen TOPMed |
|
|
rs747141427 CA6328213 |
221 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1301537043 CA383030303 |
227 | A>P | No |
ClinGen gnomAD |
|
|
rs371081823 CA6328215 |
229 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261338202 CA383030341 |
230 | T>A | No |
ClinGen TOPMed |
|
|
rs142234975 CA229857403 |
231 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs151190785 CA6328217 |
232 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA229857411 rs778757282 |
232 | H>Y | No |
ClinGen Ensembl |
|
|
rs778614572 CA6328219 CA383030406 |
234 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6328218 rs770791777 |
234 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867964883 CA229857442 |
235 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6328221 rs141293946 |
237 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745655742 CA6328220 |
237 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1250786427 CA383030455 |
238 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA383030513 rs1244071186 |
242 | Q>R | No |
ClinGen gnomAD |
|
|
rs1591505757 CA383030521 |
243 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 244 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6328224 rs768100179 |
251 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229857481 COSM218298 rs374190839 |
252 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 253 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762183407 CA6328226 |
253 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs765742077 CA6328227 |
258 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383030748 rs1324083070 |
261 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA383030772 rs1474952519 |
263 | K>* | No |
ClinGen TOPMed |
|
|
rs980102323 CA229857508 |
263 | K>T | No |
ClinGen TOPMed |
|
|
rs745380178 COSM294795 CA6328229 |
265 | P>L | large_intestine Variant assessed as Somatic; 4.632e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA229857514 rs960058373 |
268 | Y>C | No |
ClinGen TOPMed |
|
|
rs1196786926 CA383030856 |
269 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA229857533 rs367727061 |
271 | E>D | No |
ClinGen ESP TOPMed |
|
|
COSM1188406 rs766772523 CA6328230 |
272 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1320403076 CA383030893 |
272 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6328232 rs751763860 |
276 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs118099079 CA6328233 |
277 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000905773 rs114578771 CA6328234 |
277 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs114578771 CA6328235 |
277 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757191362 CA6328236 |
278 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs757191362 CA229857556 |
278 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1440855687 CA383031020 |
281 | S>L | No |
ClinGen Ensembl |
|
|
rs745732638 CA6328238 |
284 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA229857583 rs914640787 |
285 | C>R | No |
ClinGen Ensembl |
|
|
rs1230188994 CA383031101 |
286 | K>N | No |
ClinGen TOPMed |
|
|
CA229857596 rs970120462 |
286 | K>T | No |
ClinGen Ensembl |
|
|
rs758926625 CA229857615 |
289 | K>T | No |
ClinGen Ensembl |
|
|
rs771792307 CA6328239 |
291 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs771541681 CA229857624 |
292 | N>D | No |
ClinGen TOPMed |
|
|
CA6328241 rs367608610 |
292 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776041178 CA6328243 |
294 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6328242 rs768181937 |
294 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1049044204 CA383031253 |
295 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383031259 rs1299311512 |
296 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383031268 rs1422744827 |
296 | T>I | No |
ClinGen gnomAD |
|
|
CA6328244 rs761361460 |
297 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383031300 rs1169447482 |
298 | T>S | No |
ClinGen TOPMed |
1 associated diseases with O75845
[MIM: 607330]: Lathosterolosis (LATHOS)
An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. {ECO:0000269|PubMed:12189593, ECO:0000269|PubMed:12812989}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. {ECO:0000269|PubMed:12189593, ECO:0000269|PubMed:12812989}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O75845
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Fatty acid hydroxylase | 124 - 252 | IPR006694 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.19.20 | With oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water |
| 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 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| C-5 sterol desaturase activity | Catalysis of the reaction: 5,7,24(28)-ergostatrienol + O2 + NADPH = 5,7,22,24(28)-ergostatetraenol + 2 H2O + NADP+. |
| delta7-sterol 5(6)-desaturase activity | Catalysis of the reaction: a delta(7)-sterol + 2 ferrocytochrome b5 + O2 + 2 H+ -> a delta(5,7)-sterol + 2 ferricytochrome b5 + 2 H2O. |
| iron ion binding | Binding to an iron (Fe) ion. |
| 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. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cholesterol biosynthetic process via desmosterol | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate desmosterol. |
| cholesterol biosynthetic process via lathosterol | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| sterol biosynthetic process | The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O88822 | Sc5d | Lathosterol oxidase | Mus musculus (Mouse) | PR |
| Q9EQS5 | Sc5d | Lathosterol oxidase | Rattus norvegicus (Rat) | PR |
| O17554 | agmo-1 | Alkylglycerol monooxygenase | Caenorhabditis elegans | PR |
| Q5M8F9 | agmo | Alkylglycerol monooxygenase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6NYE4 | agmo | Alkylglycerol monooxygenase | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDLVLRVADY | YFFTPYVYPA | TWPEDDIFRQ | AISLLIVTNV | GAYILYFFCA | TLSYYFVFDH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ALMKHPQFLK | NQVRREIKFT | VQALPWISIL | TVALFLLEIR | GYSKLHDDLG | EFPYGLFELV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSIISFLFFT | DMFIYWIHRG | LHHRLVYKRL | HKPHHIWKIP | TPFASHAFHP | IDGFLQSLPY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HIYPFIFPLH | KVVYLSLYIL | VNIWTISIHD | GDFRVPQILQ | PFINGSAHHT | DHHMFFDYNY |
| 250 | 260 | 270 | 280 | 290 | |
| GQYFTLWDRI | GGSFKNPSSF | EGKGPLSYVK | EMTEGKRSSH | SGNGCKNEKL | FNGEFTKTE |