A0AVF1
PR
Gene name |
TTC26 |
Protein name |
Intraflagellar transport protein 56 |
Names |
Tetratricopeptide repeat protein 26, TPR repeat protein 26 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79989 |
EC number |
|
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 A0AVF1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A0AVF1-F1 | Predicted | AlphaFoldDB |
378 variants for A0AVF1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_086383 RCV001727843 RCV001175231 rs1794039778 |
263 | N>S | Biliary, renal, neurologic, and skeletal syndrome Caroli disease BRENS; decreased protein abundance; associated with abnormal ciliary structure and function [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
TCGA novel VAR_086384 |
444 | P>L | Variant assessed as Somatic; impact. BRENS; unknown pathological significance [NCI-TCGA, UniProt] | Yes |
NCI-TCGA UniProt |
|
rs1421410125 CA369394838 |
2 | M>I | No |
ClinGen gnomAD |
|
|
rs765389997 CA4508020 |
2 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA4508019 rs751463368 |
2 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752775044 CA4508021 |
3 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4508022 rs758706219 |
8 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4508024 rs750307676 |
10 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149496387 CA4508025 |
13 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369394918 rs1192595283 |
14 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA369394924 rs1376344056 |
15 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1340436111 CA369394938 |
16 | H>R | No |
ClinGen gnomAD |
|
|
rs749214830 CA4508027 |
16 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4508029 rs778421494 |
17 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1169007299 CA369394974 |
18 | D>E | No |
ClinGen gnomAD |
|
|
rs747602367 CA4508031 |
19 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 20 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 21 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369395032 rs1464156093 |
22 | K>T | No |
ClinGen gnomAD |
|
|
CA369395065 rs1218505907 |
24 | G>D | No |
ClinGen gnomAD |
|
|
CA369395124 rs1446327310 |
28 | P>R | No |
ClinGen gnomAD |
|
|
CA369395157 rs1289634167 |
31 | E>K | No |
ClinGen TOPMed |
|
|
rs772848212 CA4508035 |
33 | L>I | No |
ClinGen ExAC |
|
| TCGA novel | 35 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560173678 CA167165332 |
36 | K>N | No |
ClinGen Ensembl |
|
|
rs114105891 CA167165334 |
37 | R>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 37 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369395248 rs1248480054 |
38 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1248480054 CA369395251 |
38 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs747392021 CA4508036 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4508038 rs776820669 |
45 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4508058 rs143880653 |
50 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM334762 CA4508059 rs371323668 |
50 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1318727851 CA369396305 |
53 | G>V | No |
ClinGen TOPMed |
|
|
rs201276292 CA4508061 |
56 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1584897591 CA369396437 |
57 | E>K | No |
ClinGen Ensembl |
|
|
rs767581727 CA4508064 |
58 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs762121208 CA4508063 |
58 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250084195 CA369396538 |
60 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753673614 CA4508065 |
61 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1190048572 CA369396606 |
62 | W>* | No |
ClinGen gnomAD |
|
|
rs1367130744 CA369396631 |
63 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1242081595 CA369396647 |
64 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759249322 CA4508066 |
65 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs75136008 CA167166335 |
66 | C>F | No |
ClinGen Ensembl |
|
|
rs765217642 CA4508067 |
67 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4508068 rs752609072 |
70 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4508071 rs750975485 |
71 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4508070 rs375989701 |
71 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs182585893 CA369396925 |
73 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182585893 CA4508072 |
73 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4508073 rs780702763 |
74 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs770258927 CA4508075 |
75 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369346229 CA167166359 |
76 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1212624242 CA369397010 |
77 | L>V | No |
ClinGen TOPMed |
|
|
rs779287063 CA4508099 |
79 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1433296317 CA369398128 CA369398129 |
81 | E>D | No |
ClinGen gnomAD |
|
|
COSM3431295 CA369398119 rs1260374560 |
81 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs772024030 CA4508101 |
82 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs773525737 CA4508102 |
84 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167166922 rs139762669 |
85 | K>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA369398173 rs1205325000 |
86 | E>K | No |
ClinGen gnomAD |
|
|
CA4508104 rs771083116 |
87 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4508103 rs747264322 |
87 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA369398239 rs1165841586 |
90 | N>K | No |
ClinGen TOPMed |
|
|
CA167166936 rs1029810545 |
93 | V>F | No |
ClinGen Ensembl |
|
|
CA4508105 rs775267467 |
93 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs764148555 CA4508107 |
96 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA167166948 rs796523565 |
98 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4508108 rs561681553 |
99 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA4508109 rs761424614 |
100 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4508110 rs766962679 |
102 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200364043 CA4508111 |
104 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4508112 rs755846958 |
106 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA369398430 rs1198146544 |
107 | Y>C | No |
ClinGen TOPMed |
|
|
CA4508115 rs755384260 |
112 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1250667668 CA369398507 |
113 | A>G | No |
ClinGen gnomAD |
|
|
rs779524465 CA4508116 |
114 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs1476133123 CA369398823 |
119 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4508131 rs772857337 |
120 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA167167807 rs371222020 |
120 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4508132 rs371222020 |
120 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4508133 rs749526877 |
121 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4508134 rs576709593 |
121 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369398903 rs1352964373 |
122 | L>P | No |
ClinGen gnomAD |
|
|
CA369398913 rs1441836633 |
123 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs373757821 CA4508135 |
125 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369398959 rs1381828442 |
125 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369398969 rs1293223383 |
126 | L>R | No |
ClinGen gnomAD |
|
|
CA4508136 rs765554169 |
126 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4508137 rs753057960 |
127 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA4508139 rs114629141 |
128 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203440661 CA369399021 |
129 | H>P | No |
ClinGen gnomAD |
|
|
CA369399048 rs1237787323 |
130 | L>F | No |
ClinGen gnomAD |
|
|
rs1185625305 CA369399074 |
132 | H>L | No |
ClinGen gnomAD |
|
|
CA4508141 rs751696700 |
132 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1185276976 CA369399092 |
133 | K>E | No |
ClinGen TOPMed |
|
|
CA369399790 rs1252824647 |
134 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA167169954 rs948666862 |
136 | D>Y | No |
ClinGen Ensembl |
|
|
CA369399878 rs1167773215 |
137 | E>D | No |
ClinGen TOPMed |
|
|
rs1436755887 CA369399845 |
137 | E>K | No |
ClinGen TOPMed |
|
|
rs780321213 CA4508167 |
138 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747954239 CA4508168 |
138 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs750626965 CA167169961 |
140 | L>F | No |
ClinGen Ensembl |
|
|
rs1406528083 CA369399944 |
141 | M>I | No |
ClinGen gnomAD |
|
|
CA167169972 rs917813541 |
142 | S>G | No |
ClinGen TOPMed |
|
|
rs367793237 CA167169978 |
145 | Q>E | No |
ClinGen ESP TOPMed |
|
|
CA369400075 rs1396093294 |
148 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1191489753 CA369400081 |
148 | Q>R | No |
ClinGen TOPMed |
|
|
CA167169982 rs185015288 |
151 | T>I | No |
ClinGen 1000Genomes |
|
|
rs888691838 CA167169990 |
152 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369400150 rs1563161169 |
153 | D>Y | No |
ClinGen Ensembl |
|
|
CA369400172 rs1336068494 |
154 | Q>* | No |
ClinGen gnomAD |
|
|
rs1563161189 CA369400174 |
154 | Q>P | No |
ClinGen Ensembl |
|
|
CA167170004 rs936064123 |
157 | L>S | No |
ClinGen TOPMed |
|
|
rs1240902626 CA369400221 |
157 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746975656 CA4508171 |
160 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA167170012 rs897307961 |
162 | Y>H | No |
ClinGen Ensembl |
|
|
CA4508174 rs772818942 |
162 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs769389050 CA4508175 |
164 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA369400378 rs1213222085 |
164 | R>P | No |
ClinGen gnomAD |
|
|
CA369400439 rs1439832092 |
168 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889104953 CA167170027 |
169 | E>G | No |
ClinGen TOPMed |
|
|
CA369400490 rs1030004940 |
171 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1167765081 CA369400493 |
172 | D>G | No |
ClinGen gnomAD |
|
|
rs775185596 CA4508177 |
172 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763266874 CA4508178 |
173 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4508180 rs764470350 |
176 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs762318261 CA4508181 |
176 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767942578 CA4508182 |
178 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369400543 rs1392817137 |
180 | D>G | No |
ClinGen gnomAD |
|
|
CA369400540 rs1432795313 |
180 | D>H | No |
ClinGen TOPMed |
|
|
CA369400573 rs1231794385 |
183 | E>K | No |
ClinGen gnomAD |
|
|
CA4508197 rs774700542 |
183 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278689499 CA369400591 |
185 | L>H | No |
ClinGen gnomAD |
|
|
rs1213463692 CA369400589 |
185 | L>V | No |
ClinGen gnomAD |
|
|
CA369400602 rs1318885596 |
187 | L>F | No |
ClinGen TOPMed |
|
|
rs1195067539 CA369400624 |
190 | Y>C | No |
ClinGen gnomAD |
|
|
CA167170497 rs909225547 |
191 | V>L | No |
ClinGen TOPMed |
|
|
rs1261769673 CA369400635 |
192 | A>S | No |
ClinGen gnomAD |
|
|
CA4508199 rs768073491 |
192 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369400661 rs1195258581 |
196 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA369400688 rs1175244100 |
199 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3674846 CA4508201 rs377176348 |
200 | Y>C | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA4508202 rs766514582 |
201 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369400715 rs1364958553 |
203 | V>G | No |
ClinGen TOPMed |
|
|
CA4508203 COSM1448442 rs753813712 |
203 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA369400766 rs1347697308 |
210 | V>A | No |
ClinGen TOPMed |
|
|
rs1236830307 CA369400761 |
210 | V>L | No |
ClinGen gnomAD |
|
|
CA4508206 rs751468849 |
213 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs868332684 CA167170567 |
216 | P>S | No |
ClinGen Ensembl |
|
|
CA4508207 rs757094293 |
217 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1001783831 CA167170580 |
218 | S>G | No |
ClinGen Ensembl |
|
|
rs745848060 CA4508209 |
220 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4508212 rs748726653 COSM1086101 |
221 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768361485 CA4508213 |
222 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA4508214 rs773982251 |
223 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs748563050 CA4508215 |
226 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369401043 rs1453578604 |
227 | C>R | No |
ClinGen gnomAD |
|
|
CA369401049 rs1190200995 |
227 | C>Y | No |
ClinGen TOPMed |
|
|
CA4508216 rs557708154 |
231 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346891490 CA369401132 |
231 | R>H | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1245199711 CA369401180 |
234 | N>D | No |
ClinGen TOPMed |
|
|
CA4508217 rs773412776 |
237 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369403638 rs1463094951 |
243 | K>R | No |
ClinGen gnomAD |
|
|
rs767366623 CA4508225 |
246 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs370003764 CA4508224 |
246 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370003764 CA369403661 |
246 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs940682009 CA167177085 |
247 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 247 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756078294 CA4508227 |
248 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300236691 CA369403674 |
248 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA369403673 rs1300236691 |
248 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4508228 rs779848629 |
249 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4508229 rs779848629 |
249 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs754465895 CA4508230 |
250 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1397458602 CA369403694 |
252 | S>P | No |
ClinGen gnomAD |
|
|
CA369403707 rs1334855974 |
254 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA167177117 rs888856392 |
264 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1027112284 CA167179468 |
268 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778421590 CA4508248 |
268 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 269 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429425293 CA369404113 |
270 | G>V | No |
ClinGen gnomAD |
|
|
CA369404114 rs1584932560 |
271 | E>K | No |
ClinGen Ensembl |
|
|
CA167179497 rs202146611 |
273 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 273 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375974593 CA4508252 |
278 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 281 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4508257 rs770367149 |
288 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369404270 rs1277846549 |
294 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1208556017 CA369404268 |
294 | Y>C | No |
ClinGen gnomAD |
|
|
CA369404272 rs1231268577 |
295 | Y>H | No |
ClinGen TOPMed |
|
|
rs763233948 CA167179533 |
296 | L>F | No |
ClinGen Ensembl |
|
|
CA4508260 rs115547267 |
297 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4508261 rs774412238 |
297 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4508262 rs760560351 |
298 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1198564222 CA369404323 |
300 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369404321 rs1467363197 |
300 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1471940 rs773836203 CA4508278 |
304 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4508279 rs768590061 |
309 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_032568 rs13225917 CA4508280 |
310 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs772228025 CA4508282 |
312 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396216254 CA369404405 |
312 | E>V | No |
ClinGen gnomAD |
|
|
rs371040325 CA4508283 |
313 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375636456 CA4508284 |
314 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369404418 rs1291043962 |
315 | T>A | No |
ClinGen gnomAD |
|
|
rs367693567 CA4508287 |
315 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1291043962 CA4508285 |
315 | T>P | No |
ClinGen gnomAD |
|
|
CA369404446 rs1233909833 |
318 | E>K | No |
ClinGen gnomAD |
|
|
CA4508296 rs780744997 |
326 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368020181 CA4508297 |
326 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396874616 CA369404532 |
331 | Q>* | No |
ClinGen gnomAD |
|
|
CA4508299 rs778876059 |
332 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4508300 rs140983564 |
333 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369404554 rs1349767464 |
334 | G>S | No |
ClinGen gnomAD |
|
|
rs772348301 CA4508301 |
335 | S>A | No |
ClinGen ExAC |
|
|
rs150227772 CA4508302 |
335 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 336 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 337 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400918664 CA369404603 |
339 | M>T | No |
ClinGen TOPMed |
|
|
rs1013938310 CA167182379 |
341 | I>M | No |
ClinGen Ensembl |
|
|
rs896373185 CA167182378 |
341 | I>N | No |
ClinGen gnomAD |
|
|
rs1327769168 CA369404654 |
346 | F>Y | No |
ClinGen gnomAD |
|
|
CA369404666 rs1362838392 |
347 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1335049830 CA369404708 |
354 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA369404707 rs1335049830 |
354 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4508344 rs765994000 |
354 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473827789 CA369404987 |
358 | T>K | No |
ClinGen gnomAD |
|
|
CA4508365 rs116334417 |
359 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369405016 rs1435937821 |
363 | Q>* | No |
ClinGen gnomAD |
|
|
COSM1196973 rs200571956 CA4508366 |
363 | Q>P | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA369405027 rs1170848281 |
364 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1170848281 CA369405025 |
364 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1369119371 CA369405036 |
365 | M>I | No |
ClinGen gnomAD |
|
|
rs1357566271 CA369405044 |
366 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770552181 CA4508367 |
368 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546696670 CA167187404 |
372 | L>R | No |
ClinGen Ensembl |
|
|
CA167187406 rs955025673 |
373 | K>E | No |
ClinGen TOPMed |
|
|
CA4508369 rs759861986 |
375 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4508370 rs769849962 |
383 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175687201 CA369405190 |
385 | F>L | No |
ClinGen TOPMed |
|
|
CA369405268 rs1338642003 |
387 | S>R | No |
ClinGen Ensembl |
|
|
rs145696650 CA4508389 |
388 | Y>C | No |
ClinGen ESP ExAC |
|
| TCGA novel | 388 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764629942 CA4508391 |
391 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774808823 CA4508392 |
391 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA369405355 rs1434079811 |
392 | D>G | No |
ClinGen gnomAD |
|
|
CA369405346 rs1362664640 |
392 | D>H | No |
ClinGen gnomAD |
|
|
CA369405350 rs1362664640 |
392 | D>Y | No |
ClinGen gnomAD |
|
|
rs147040812 CA4508393 |
394 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369405393 rs1464614418 |
395 | F>V | No |
ClinGen TOPMed |
|
|
CA369405413 rs1423727898 |
396 | N>S | No |
ClinGen TOPMed |
|
|
rs1217426306 CA369405442 |
398 | N>S | No |
ClinGen gnomAD |
|
|
CA167187608 rs201928617 |
401 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA369405504 rs1317597442 |
402 | A>V | No |
ClinGen gnomAD |
|
|
rs1476828887 CA369405514 |
403 | K>R | No |
ClinGen TOPMed |
|
|
rs1245836127 CA369405523 |
404 | A>T | No |
ClinGen TOPMed |
|
|
rs750414594 CA4508395 |
405 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756365316 CA4508396 |
409 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA369405588 rs766705006 |
409 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs766705006 CA4508397 |
409 | T>N | No |
ClinGen ExAC TOPMed |
|
|
rs777901093 CA4508400 |
413 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs766757915 | 415 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760659259 CA4508413 |
415 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA369405711 rs1163487455 |
419 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA167188034 rs1003247397 COSM1699431 |
420 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs764006775 CA4508417 |
422 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376191872 CA4508416 |
422 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4508418 rs758644080 |
423 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142898769 CA4508419 |
424 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369405741 rs1371063288 |
424 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA369405749 rs1286486846 |
425 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369405748 rs1286486846 |
425 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs749995255 CA4508421 |
429 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4508420 rs780974809 |
429 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1286159840 CA369405810 |
433 | W>* | No |
ClinGen gnomAD |
|
|
CA4508422 rs755585335 |
433 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA369405808 rs1563180906 |
433 | W>R | No |
ClinGen Ensembl |
|
|
CA369405823 rs1209588634 |
435 | A>S | No |
ClinGen gnomAD |
|
|
CA4508424 rs748961422 |
436 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4508423 rs780517502 |
436 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA167188869 rs79073504 |
440 | M>L | No |
ClinGen Ensembl |
|
|
rs762502266 CA4508445 |
440 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1444921255 CA369406169 COSM484918 |
442 | K>E | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs753277187 CA4508447 |
444 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754693617 CA4508448 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778418126 CA4508449 |
447 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4508451 rs758660121 |
451 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA369406245 rs1389441631 |
453 | K>R | No |
ClinGen gnomAD |
|
|
CA4508452 rs778163345 |
454 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976751022 CA167188898 |
454 | M>V | No |
ClinGen Ensembl |
|
|
rs1372920424 CA369406257 |
455 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4508453 rs540398249 |
456 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4508454 rs540398249 |
456 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4508456 rs73732402 |
458 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4508457 rs73732402 |
458 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773001955 CA4508462 CA4508461 |
459 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4508460 rs766073325 |
459 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs966721811 CA167188930 |
462 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1287546827 CA369406319 |
465 | Q>* | No |
ClinGen TOPMed |
|
|
CA369406327 rs1435007174 |
466 | L>F | No |
ClinGen TOPMed |
|
|
rs1236109175 CA369406337 |
467 | I>M | No |
ClinGen gnomAD |
|
|
CA4508464 rs753406623 |
469 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs978256183 CA167188944 |
471 | C>S | No |
ClinGen TOPMed |
|
|
CA4508465 rs754462158 |
473 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs781651905 CA4508493 |
474 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs750985231 CA4508494 |
476 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369407207 rs1351807945 |
479 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1351807945 CA369407205 |
479 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1452573277 CA369407242 |
482 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4508495 rs756585951 |
491 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4508497 rs749379755 |
492 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1263507697 CA369407392 |
493 | N>Y | No |
ClinGen gnomAD |
|
|
CA369407414 rs1205789292 |
495 | E>Q | No |
ClinGen gnomAD |
|
|
CA369407440 rs1563185499 |
496 | Y>C | No |
ClinGen Ensembl |
|
|
CA369407470 rs1471643030 |
498 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs199654517 CA4508498 |
498 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4508499 rs779086122 |
499 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1176754539 CA369407484 |
499 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 499 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4508500 rs746847757 |
500 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1563185553 CA369407509 |
501 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4508501 rs375400125 |
501 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776364606 CA4508502 |
502 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 502 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430887915 CA369407538 |
504 | C>R | No |
ClinGen gnomAD |
|
|
rs759408624 CA4508503 |
504 | C>Y | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 511 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4508505 rs774932666 |
511 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4508506 rs762499478 |
512 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1014271517 CA167191530 |
513 | A>D | No |
ClinGen TOPMed |
|
|
CA4508507 rs763876246 |
513 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1025111786 CA167191538 |
514 | G>E | No |
ClinGen TOPMed |
|
|
rs1379417364 CA369407704 |
516 | E>K | No |
ClinGen gnomAD |
|
|
rs573202682 CA4508508 |
517 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4508509 rs761505310 |
518 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA369407752 rs1299609066 |
518 | K>N | No |
ClinGen gnomAD |
|
|
CA167191545 rs1044836370 |
518 | K>T | No |
ClinGen TOPMed |
|
|
rs1251106678 CA369407766 |
520 | T>A | No |
ClinGen TOPMed |
|
|
rs1213944540 CA369407783 |
522 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs768299020 CA4508526 |
522 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773937484 CA4508527 |
523 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs918461125 CA167192268 |
525 | L>F | No |
ClinGen Ensembl |
|
|
rs767274265 CA4508529 |
525 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs115284764 CA4508531 |
526 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4508532 rs766837592 |
531 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1475351206 CA369407863 |
532 | G>C | No |
ClinGen gnomAD |
|
|
rs941091914 CA167192281 |
532 | G>D | No |
ClinGen TOPMed |
|
|
rs1278758381 CA369407869 |
533 | N>H | No |
ClinGen gnomAD |
|
|
rs754402969 CA4508533 |
533 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773632433 CA167192285 |
533 | N>S | No |
ClinGen Ensembl |
|
|
CA4508534 rs755430132 |
534 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749787480 CA4508537 |
538 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167192295 rs1044131000 |
538 | Y>D | No |
ClinGen Ensembl |
|
|
rs749787480 CA167192298 |
538 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758689292 CA4508538 |
539 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369407908 rs1322247991 |
539 | M>V | No |
ClinGen gnomAD |
|
|
CA369407921 rs777961286 |
540 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs527473640 CA4508541 |
541 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4508542 rs527473640 |
541 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745687822 CA4508540 |
541 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4508544 rs768647603 |
543 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1311839738 CA369407934 |
543 | M>T | No |
ClinGen TOPMed |
|
|
rs1294779909 CA369407943 |
544 | K>T | No |
ClinGen gnomAD |
|
|
rs774071855 CA4508546 |
549 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA369407986 rs1414684123 |
550 | N>D | No |
ClinGen TOPMed |
|
|
CA369407990 rs1403304243 |
550 | N>S | No |
ClinGen TOPMed |
|
|
rs1446772563 CA369407995 |
551 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs200627350 CA4508548 |
552 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4508549 rs375730344 |
554 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
1 associated diseases with A0AVF1
[MIM: 619534]: Biliary, renal, neurologic, and skeletal syndrome (BRENS)
An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development. {ECO:0000269|PubMed:31595528, ECO:0000269|PubMed:32617964}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development. {ECO:0000269|PubMed:31595528, ECO:0000269|PubMed:32617964}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for A0AVF1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Tetratricopeptide repeat | 57 - 90 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 91 - 124 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 151 - 184 | IPR019734-3 |
| repeat | Tetratricopeptide repeat | 230 - 263 | IPR019734-4 |
| repeat | Tetratricopeptide repeat | 461 - 494 | IPR019734-5 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| ciliary base | Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area. |
| ciliary tip | Part of the cilium where the axoneme ends. The ciliary tip has been implicated in ciliary assembly and disassembly, as well as signal transduction. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| intraciliary transport particle B | The larger subcomplex of the intraciliary transport particle; characterized complexes have molecular weights around 550 kDa. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| intraciliary transport particle B binding | Binding to an intraciliary transport particle B (IFT B) complex. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| axoneme assembly | The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| intraciliary anterograde transport | The directed movement of large protein complexes along microtubules from the cell body toward the tip of a cilium (also called flagellum), mediated by motor proteins. |
| intraciliary transport | The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. |
| intraciliary transport involved in cilium assembly | The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. |
| manchette assembly | The aggregation, arrangement and bonding together of a set of components to form a manchette. |
| protein localization to cilium | A process in which a protein is transported to, or maintained in, a location within a cilium. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BS45 | Ttc26 | Intraflagellar transport protein 56 | Mus musculus (Mouse) | PR |
| Q5U2N8 | Ttc26 | Intraflagellar transport protein 56 | Rattus norvegicus (Rat) | PR |
| A4III8 | ttc26 | Intraflagellar transport protein 56 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMLSRAKPAV | GRGVQHTDKR | KKKGRKIPKL | EELLSKRDFT | GAITLLEFKR | HVGEEEEDTN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LWIGYCAFHL | GDYKRALEEY | ENATKEENCN | SEVWVNLACT | YFFLGMYKQA | EAAGFKASKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLQNRLLFHL | AHKFNDEKKL | MSFHQNLQDV | TEDQLSLASI | HYMRSHYQEA | IDIYKRILLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NREYLALNVY | VALCYYKLDY | YDVSQEVLAV | YLQQIPDSTI | ALNLKACNHF | RLYNGRAAEA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELKSLMDNAS | SSFEFAKELI | RHNLVVFRGG | EGALQVLPPL | VDVIPEARLN | LVIYYLRQDD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VQEAYNLIKD | LEPTTPQEYI | LKGVVNAALG | QEMGSRDHMK | IAQQFFQLVG | GSASECDTIP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GRQCMASCFF | LLKQFDDVLI | YLNSFKSYFY | NDDIFNFNYA | QAKAATGNTS | EGEEAFLLIQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SEKMKNDYIY | LSWLARCYIM | NKKPRLAWEL | YLKMETSGES | FSLLQLIAND | CYKMGQFYYS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AKAFDVLERL | DPNPEYWEGK | RGACVGIFQM | IIAGREPKET | LREVLHLLRS | TGNTQVEYMI |
| 550 | |||||
| RIMKKWAKEN | RVSI |