P0DJH9
PR
Gene name |
RD3L |
Protein name |
Protein RD3-like |
Names |
Retinal degeneration protein 3-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:647286 |
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 P0DJH9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P0DJH9-F1 | Predicted | AlphaFoldDB |
141 variants for P0DJH9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1189167268 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279196212 CA391161297 |
2 | P>L | No |
ClinGen gnomAD |
|
|
CA391161296 rs1453209459 |
3 | L>I | No |
ClinGen TOPMed |
|
|
CA391161295 rs1453209459 |
3 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1056259887 CA267428728 |
6 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA391161275 rs1157332580 |
6 | W>R | No |
ClinGen TOPMed |
|
|
rs1441471641 CA391161263 |
7 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391161264 rs1441471641 |
7 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1055329716 CA267428727 |
9 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs188293294 CA7368203 |
11 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391161226 rs1374583609 |
12 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA267428725 rs926323250 |
13 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs926323250 CA391161221 |
13 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1177851967 CA391161200 |
16 | K>E | No |
ClinGen gnomAD |
|
|
CA391161175 rs1469634984 |
19 | H>Q | No |
ClinGen gnomAD |
|
|
CA391161148 rs1595896028 |
23 | S>* | No |
ClinGen Ensembl |
|
|
CA267428724 rs561981786 |
25 | I>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1190639541 CA391161133 |
26 | V>M | No |
ClinGen gnomAD |
|
|
CA391161109 rs1486224688 |
29 | T>S | No |
ClinGen gnomAD |
|
|
CA391161098 rs1207651843 |
31 | L>P | No |
ClinGen gnomAD |
|
|
CA267428723 rs941498357 |
32 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA391161095 rs1318344279 |
32 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1042869170 CA267428722 |
35 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222718465 CA391161069 |
36 | W>R | No |
ClinGen gnomAD |
|
|
rs910152645 CA267428721 |
41 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA267428720 rs983419285 |
41 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA391161027 rs1446178044 |
42 | E>G | No |
ClinGen gnomAD |
|
|
CA267428719 rs951410314 |
42 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs17101950 CA7368202 |
44 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs17101950 CA391161015 |
44 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1167794541 CA391160975 |
49 | E>G | No |
ClinGen gnomAD |
|
|
rs1409806392 CA391160979 |
49 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1459810792 CA391160963 |
51 | E>K | No |
ClinGen TOPMed |
|
|
CA391160951 rs1566726326 |
52 | Q>P | No |
ClinGen Ensembl |
|
|
CA267428716 rs368765029 |
53 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1475810677 CA391160943 |
53 | K>R | No |
ClinGen gnomAD |
|
|
rs1180482835 CA391160930 |
55 | K>R | No |
ClinGen gnomAD |
|
|
rs1026112961 CA267428715 |
57 | T>I | No |
ClinGen TOPMed |
|
| rs1566726304 | 57 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267428714 rs531908180 |
58 | G>S | No |
ClinGen 1000Genomes |
|
|
rs1487020369 CA391160906 |
59 | V>M | No |
ClinGen gnomAD |
|
|
rs1310828918 CA391160872 |
63 | W>* | No |
ClinGen TOPMed |
|
|
rs1566726288 CA391160877 |
63 | W>R | No |
ClinGen Ensembl |
|
|
rs1214580467 CA391160864 |
64 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA267428712 rs964098639 |
67 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA267428711 rs971166420 |
70 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1018278829 CA267428710 |
73 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA267428709 rs111741528 |
74 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1310411549 CA391160795 |
75 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216128521 CA391160765 |
79 | Q>R | No |
ClinGen gnomAD |
|
|
rs1289704636 CA391160756 |
80 | R>S | No |
ClinGen gnomAD |
|
|
CA7368199 rs78523783 |
82 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA267428707 rs1055401661 |
84 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 85 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391160709 rs1470251764 |
87 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1566726194 CA391160702 |
88 | Q>H | No |
ClinGen Ensembl |
|
|
rs1001085720 CA267428706 |
89 | V>A | No |
ClinGen TOPMed |
|
|
CA391160667 rs184676510 |
93 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391160662 rs1461965887 |
94 | T>N | No |
ClinGen gnomAD |
|
|
rs779444599 CA7368197 |
95 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1163232256 CA391160654 |
96 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1430694729 CA391160644 |
97 | I>T | No |
ClinGen gnomAD |
|
|
rs1022241335 CA267428705 |
98 | L>P | No |
ClinGen Ensembl |
|
|
rs1048133712 CA267428704 |
99 | S>N | No |
ClinGen Ensembl |
|
|
CA267428703 rs533944623 |
100 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA391160610 rs1595895400 |
101 | F>L | No |
ClinGen Ensembl |
|
|
rs1292331273 CA391160601 |
102 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1170519066 CA391160588 |
104 | V>F | No |
ClinGen TOPMed |
|
|
CA391160567 rs1463960705 |
107 | E>G | No |
ClinGen gnomAD |
|
|
rs1032645745 CA267428677 |
109 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1157919859 CA391160547 |
110 | V>L | No |
ClinGen TOPMed |
|
|
rs1168349799 CA391160542 |
111 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA391160541 rs1168349799 |
111 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7368195 rs749356254 |
112 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391160531 rs1193827812 |
113 | W>R | No |
ClinGen gnomAD |
|
|
CA391160523 rs1344702183 |
114 | E>K | No |
ClinGen TOPMed |
|
|
CA391160512 rs1432128485 |
115 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA267428676 rs766715331 |
116 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1001558113 CA267428675 |
117 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs72712880 CA267428674 |
119 | F>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs763336035 CA267428673 |
120 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs773559421 CA267428672 |
120 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA267428671 rs904103103 |
121 | Q>K | No |
ClinGen TOPMed |
|
|
CA391160462 rs1202776293 |
123 | L>V | No |
ClinGen gnomAD |
|
|
rs987955171 CA267428670 |
125 | D>G | No |
ClinGen Ensembl |
|
|
rs1451437904 CA391160443 |
126 | F>L | No |
ClinGen TOPMed |
|
|
rs1282774363 CA391160436 |
126 | F>L | No |
ClinGen gnomAD |
|
|
rs1196283729 CA391160432 |
127 | L>P | No |
ClinGen TOPMed |
|
|
CA267428668 rs118060694 |
129 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1330647342 CA391160412 |
130 | S>C | No |
ClinGen gnomAD |
|
|
CA267428667 rs1034907914 |
131 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA267428666 rs1009727065 |
135 | E>D | No |
ClinGen TOPMed |
|
|
rs1177466783 CA391160372 |
136 | Q>* | No |
ClinGen TOPMed |
|
|
rs1307900904 CA391160357 |
138 | D>H | No |
ClinGen gnomAD |
|
|
CA391160358 rs1307900904 |
138 | D>N | No |
ClinGen gnomAD |
|
|
rs901992296 CA267428665 |
140 | E>G | No |
ClinGen TOPMed |
|
|
rs756331635 CA7368193 |
143 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1173926971 CA391160315 |
144 | S>N | No |
ClinGen gnomAD |
|
|
rs1040456638 CA267428664 |
145 | M>T | No |
ClinGen TOPMed |
|
|
CA267428663 rs1003230761 |
146 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750597417 CA7368192 |
147 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA391160265 rs1321775216 |
152 | V>M | No |
ClinGen TOPMed |
|
|
rs1251016553 CA391160251 |
154 | Q>E | No |
ClinGen gnomAD |
|
|
CA267428661 rs1023410962 |
158 | S>F | No |
ClinGen Ensembl |
|
|
CA267428660 rs767359440 |
160 | R>G | No |
ClinGen Ensembl |
|
|
CA267428659 rs1005703241 |
160 | R>K | No |
ClinGen Ensembl |
|
|
rs889148332 CA267428658 |
161 | A>T | No |
ClinGen TOPMed |
|
|
rs547372848 CA267428656 CA391160194 |
162 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs374574508 CA391160199 |
162 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs374574508 CA267428657 |
162 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1201304012 CA391160192 |
163 | K>E | No |
ClinGen gnomAD |
|
|
CA7368190 rs35337422 |
166 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA267428654 rs761917610 |
168 | T>I | No |
ClinGen TOPMed |
|
|
CA391160153 rs761917610 |
168 | T>N | No |
ClinGen TOPMed |
|
|
rs1291502611 CA391160143 |
170 | S>A | No |
ClinGen TOPMed |
|
|
rs919167813 CA267428652 |
173 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1317544803 CA391160121 |
173 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA267428651 rs901445731 |
176 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA391160086 rs1354581508 |
177 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1367842093 CA391160055 |
179 | D>H | No |
ClinGen TOPMed |
|
|
rs759177625 CA7368186 |
180 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA391160016 rs1595895047 |
181 | F>S | No |
ClinGen Ensembl |
|
|
CA267428650 rs1041257259 |
182 | P>T | No |
ClinGen gnomAD |
|
|
CA391159974 rs1471649929 |
184 | F>L | No |
ClinGen TOPMed |
|
|
CA267428649 rs942733285 |
184 | F>L | No |
ClinGen Ensembl |
|
|
rs776279179 CA7368185 |
186 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399623957 CA391159953 |
186 | H>Y | No |
ClinGen gnomAD |
|
|
CA391159941 rs1453891017 |
187 | R>G | No |
ClinGen gnomAD |
|
|
CA391159936 rs1414331950 |
187 | R>K | No |
ClinGen TOPMed |
|
|
CA391159914 rs1427406056 |
188 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1330976618 CA391159899 |
189 | W>C | No |
ClinGen TOPMed |
|
|
CA391159910 rs1462156840 |
189 | W>R | No |
ClinGen TOPMed |
|
|
CA391159886 rs1595894992 |
190 | N>T | No |
ClinGen Ensembl |
|
|
rs1156917146 CA391159860 |
192 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA267428647 rs142355459 |
195 | H>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1418394154 CA391159788 |
196 | P>S | No |
ClinGen gnomAD |
|
|
CA391159778 rs1186587214 |
197 | S>P | No |
ClinGen gnomAD |
|
|
CA391159765 rs1440424868 |
198 | S>G | No |
ClinGen gnomAD |
No associated diseases with P0DJH9
No regional properties for P0DJH9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P0DJH9 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z3Z2 | RD3 | Protein RD3 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLFGWMKWP | KNDSYKPTHY | PGSDIVTKTL | LRELKWHLKE | RERLIQEIEN | EQKVKKTGVD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YNWLRNYQNP | HTTIPVTEQR | QLEVLCSQVQ | PCQTGTILSR | FREVLAENDV | LPWEIVYIFK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVLKDFLSSS | DRGSEQEDLE | DSGSMDCSAP | SVIQGDSSKR | ADKDEIPTIS | SYVDKNTKDR |
| 190 | |||||
| FPVFSHRIWN | LPYYHPSS |