Q8IXB3
Gene name |
TRARG1 |
Protein name |
Trafficking regulator of GLUT4 1 |
Names |
Dispanin subfamily B member 1, DSPB1, Interferon-induced transmembrane domain-containing protein D3, Protein located at seventeen-p-thirteen point three 1, Tumor suppressor candidate 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:286753 |
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 Q8IXB3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IXB3-F1 | Predicted | AlphaFoldDB |
207 variants for Q8IXB3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA397520318 rs1344736629 |
2 | A>G | No |
ClinGen gnomAD |
|
|
rs760146336 CA8265834 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs75616699 CA8265835 VAR_029589 |
3 | H>Y | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA8265836 rs753774828 |
4 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196162829 CA397520335 |
5 | V>A | No |
ClinGen gnomAD |
|
|
CA8265838 rs765124946 |
7 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397520346 rs1173826888 |
7 | S>P | No |
ClinGen TOPMed |
|
|
rs758716428 CA8265840 |
8 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1598185991 CA397520359 |
9 | F>V | No |
ClinGen Ensembl |
|
|
rs1429037358 CA397520368 |
10 | P>L | No |
ClinGen TOPMed |
|
|
rs1168241505 CA397520385 |
13 | Q>* | No |
ClinGen gnomAD |
|
|
CA8265842 rs751625945 |
13 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1371809442 CA397520396 |
14 | E>D | No |
ClinGen gnomAD |
|
|
rs1325612642 CA397520394 |
14 | E>G | No |
ClinGen gnomAD |
|
|
CA8265843 rs755077393 |
14 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs111587833 CA286744635 |
15 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397520400 rs1184529604 |
15 | P>L | No |
ClinGen TOPMed |
|
|
CA8265844 VAR_029590 rs111587833 |
15 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770104149 CA8265846 |
16 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1355227640 CA397520415 |
18 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA286744646 rs111701043 |
18 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8265848 VAR_029591 rs111701043 |
18 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA397520418 rs1468529132 |
19 | A>E | No |
ClinGen gnomAD |
|
|
CA8265851 rs199751182 |
19 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397520416 rs199751182 |
19 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs6502774 CA286744693 |
20 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8265852 rs6502774 VAR_029592 |
20 | F>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA397520424 rs6502774 |
20 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776561613 CA8265853 |
22 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8265854 rs761869292 |
23 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1193647945 CA397520440 |
23 | L>V | No |
ClinGen gnomAD |
|
|
CA8265855 rs765075771 |
24 | P>L | No |
ClinGen ExAC |
|
|
rs762879334 CA8265857 |
26 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395370433 CA397520477 |
28 | I>R | No |
ClinGen gnomAD |
|
|
CA397520476 rs1395370433 COSM242139 |
28 | I>T | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1191422406 CA397520473 |
28 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1373155421 CA397520483 |
29 | L>P | No |
ClinGen TOPMed |
|
|
rs190456061 CA8265859 |
30 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397520488 rs1368006465 |
30 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs930288091 CA286744748 |
31 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA286744754 rs984350544 |
32 | K>E | No |
ClinGen gnomAD |
|
|
CA8265860 VAR_029593 rs75025906 |
34 | E>D | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs767526514 CA8265861 |
35 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8265864 rs560160029 |
37 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749652638 CA8265865 |
38 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8265866 rs757679975 |
39 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397520558 rs1205639597 |
41 | L>V | No |
ClinGen gnomAD |
|
|
CA8265868 rs746643952 |
44 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs768168367 CA8265869 |
45 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1418883199 CA397520593 |
47 | L>I | No |
ClinGen gnomAD |
|
|
rs527632397 CA8265870 |
48 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201434030 CA286744820 |
49 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs895363969 CA286744834 |
50 | P>L | No |
ClinGen TOPMed |
|
|
rs762826527 CA8265874 |
50 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8265875 rs766094067 |
51 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA8265876 rs371689207 |
52 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397520621 rs1218495154 |
52 | D>G | No |
ClinGen TOPMed |
|
|
rs1400577991 CA397520617 |
52 | D>N | No |
ClinGen gnomAD |
|
|
rs201625477 CA8265877 |
54 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201625477 CA397520629 |
54 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA286744860 rs552062038 |
56 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397520652 rs6502776 |
57 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_029594 CA8265880 rs6502776 |
57 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA397520651 rs6502776 |
57 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1332986088 CA397520660 |
58 | Q>* | No |
ClinGen TOPMed |
|
|
rs375213755 CA286744880 |
59 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8265881 rs375213755 |
59 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866986320 CA286744881 |
61 | P>A | No |
ClinGen Ensembl |
|
|
CA8265882 rs754353569 |
62 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8265883 rs757573314 |
63 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757573314 CA397520687 |
63 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397520708 rs1212786758 |
66 | S>P | No |
ClinGen gnomAD |
|
|
CA397520710 rs1464982179 |
66 | S>Y | No |
ClinGen TOPMed |
|
|
CA8265886 rs754563276 |
67 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751171532 CA8265885 |
67 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA397520723 rs1166818204 |
68 | G>A | No |
ClinGen TOPMed |
|
|
CA397520719 rs1410332590 |
68 | G>R | No |
ClinGen gnomAD |
|
|
CA8265887 rs780938203 |
71 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397520748 rs1567927245 |
72 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8265889 rs369899312 |
74 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8265890 rs777788387 |
74 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777788387 CA397520757 |
74 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286744909 rs369899312 |
74 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770710409 CA397520767 |
76 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8265892 rs770710409 |
76 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749271661 CA8265891 |
76 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs773995458 CA397520774 |
78 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8265893 rs773995458 |
78 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8265895 rs772183424 |
79 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200966114 CA397520786 |
80 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200966114 CA8265898 |
80 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8265897 rs760691629 |
80 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397520787 rs1275487896 |
81 | A>T | No |
ClinGen TOPMed |
|
|
CA8265899 rs754300458 |
81 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762244907 CA8265901 CA8265900 |
84 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs568148069 CA8265902 |
85 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8265904 rs372635148 |
86 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8265903 COSM1231432 rs372635148 |
86 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1190697258 CA397520822 |
87 | S>P | No |
ClinGen gnomAD |
|
|
rs1189419630 CA397520842 |
90 | A>T | No |
ClinGen gnomAD |
|
|
CA397520850 rs1323633453 |
91 | T>I | No |
ClinGen Ensembl |
|
|
rs375426779 CA8265911 |
93 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA286745095 rs1034846432 |
95 | A>G | No |
ClinGen gnomAD |
|
|
CA397520880 rs372563106 |
96 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8265912 rs372563106 |
96 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397520889 rs1355938101 |
97 | D>E | No |
ClinGen gnomAD |
|
|
CA397520892 rs1442413012 |
98 | Q>* | No |
ClinGen gnomAD |
|
|
CA8265914 rs760915398 |
100 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA397520907 rs1368149210 |
100 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760915398 CA397520911 |
100 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA397520918 rs1364243886 |
102 | R>G | No |
ClinGen gnomAD |
|
|
CA8265916 rs776666793 |
103 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8265917 rs761992799 |
104 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA397520935 rs1598186285 |
104 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 105 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 105 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3712255 rs72816260 CA8265918 |
106 | I>T | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA286745157 COSM352012 rs971805745 |
108 | A>D | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397520965 rs1567927294 |
109 | V>A | No |
ClinGen Ensembl |
|
|
CA8265920 rs763167536 COSM352013 |
109 | V>I | lung Variant assessed as Somatic; 4.668e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8265923 rs752350080 COSM1470905 |
110 | V>I | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752350080 CA8265924 |
110 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8265926 rs753286797 |
111 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192261469 CA397520975 |
111 | A>V | No |
ClinGen TOPMed |
|
|
COSM109157 CA286745205 rs140849117 |
115 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs56071414 CA8265931 |
116 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56071414 CA8265929 |
116 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56071414 CA8265930 |
116 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8265933 rs746851996 |
117 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8265934 rs768832176 |
118 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1387847729 CA397521017 |
118 | P>T | No |
ClinGen gnomAD |
|
|
CA397521032 rs1382500698 |
120 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8265936 rs928019418 |
122 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 122 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362382645 CA397521051 |
123 | P>S | No |
ClinGen gnomAD |
|
| rs762000687 | 124 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337166747 CA397521073 |
126 | I>M | No |
ClinGen gnomAD |
|
|
rs748162909 CA8265938 |
126 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1214418422 CA397521087 |
129 | M>L | No |
ClinGen gnomAD |
|
|
CA397521091 rs1567927346 |
129 | M>T | No |
ClinGen Ensembl |
|
|
rs1052112216 CA286762310 |
131 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs200319809 CA8265969 |
131 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200319809 COSM264500 CA8265970 |
131 | R>Q | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA397521656 TCGA novel rs1344942677 |
132 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs1189106758 CA397521660 |
133 | S>N | No |
ClinGen TOPMed |
|
|
rs373545515 CA8265971 |
133 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397521670 rs1177740267 |
134 | M>I | No |
ClinGen TOPMed |
|
|
CA397521668 rs1467971930 |
134 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA397521683 rs1282982313 |
136 | Q>* | No |
ClinGen gnomAD |
|
|
CA8265972 rs751510149 |
136 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781071180 CA8265974 |
137 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA397521689 rs754701438 |
137 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754701438 CA8265973 |
137 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781071180 CA397521690 |
137 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8265975 rs369302621 |
138 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777926793 CA397521700 |
139 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777926793 CA8265977 COSM3378076 |
139 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs916272871 CA286762417 |
141 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA397521714 rs1396714659 |
141 | G>V | No |
ClinGen gnomAD |
|
|
rs779499580 CA8265980 |
142 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394633037 CA397521721 |
142 | A>V | No |
ClinGen gnomAD |
|
|
rs1411811214 CA397521722 |
143 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746411798 CA8265982 |
143 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8265981 rs746411798 |
143 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM975557 rs1411811214 CA397521723 |
143 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA286762461 rs1035830727 |
144 | R>S | No |
ClinGen Ensembl |
|
|
CA8265983 rs775897419 |
145 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs779102520 COSM3378077 CA8265985 |
147 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs370410748 COSM975558 CA8265986 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8265987 rs762389709 |
149 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8265989 rs751457450 |
150 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs374210765 CA8265988 |
150 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467625236 CA397521765 |
152 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8265990 rs759447889 |
153 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1454623153 CA397521789 |
155 | T>I | No |
ClinGen gnomAD |
|
|
COSM472313 rs1454623153 CA397521788 |
155 | T>S | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8265992 rs752534868 |
156 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1235262932 CA397521791 |
156 | L>V | No |
ClinGen gnomAD |
|
|
CA8265995 rs370923967 |
157 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8265994 rs370923967 |
157 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397521818 rs1459969392 |
160 | G>S | No |
ClinGen gnomAD |
|
|
rs757375759 CA8265996 |
161 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1327951523 CA397521826 |
161 | I>V | No |
ClinGen gnomAD |
|
|
CA8265998 rs200766728 |
162 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286762559 rs201414985 |
163 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8266001 rs201414985 |
163 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8266000 rs201414985 |
163 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772782807 CA8266003 |
164 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8266005 rs770378061 CA397521851 |
165 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286762594 rs187534319 |
165 | M>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs762625401 CA8266004 |
165 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434416986 CA397521855 |
166 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs376944339 CA8266006 |
167 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372589098 CA8266008 COSM172212 |
168 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1022986829 CA286762607 |
169 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA397521871 rs1022986829 |
169 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1378961733 CA397521874 |
170 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs760454130 CA8266010 |
172 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760454130 CA397521888 |
172 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8266012 rs533341843 |
173 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA286762659 rs533341843 |
173 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8266013 rs757527314 |
174 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771564599 CA8266047 |
175 | Q>R | No |
ClinGen ExAC |
|
|
rs746565517 CA8266049 |
176 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs768705249 CA8266050 COSM975561 |
176 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
No associated diseases with Q8IXB3
4 regional properties for Q8IXB3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 283 - 320 | IPR001680-1 |
| repeat | WD40 repeat | 377 - 455 | IPR001680-2 |
| repeat | WD40 repeat | 499 - 538 | IPR001680-3 |
| repeat | WD40 repeat | 541 - 578 | IPR001680-4 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to insulin stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| endosome to plasma membrane protein transport | The directed movement of proteins from the endosome to the plasma membrane in transport vesicles. |
| glucose import in response to insulin stimulus | The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| vesicle fusion to plasma membrane | Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHPVQSEFP | SAQEPGSAAF | LDLPEMEILL | TKAENKDDKT | LNLSKTLSGP | LDLEQNSQGL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PFKAISEGHL | EAPLPRSPSR | ASSRRASSIA | TTSYAQDQEA | PRDYLILAVV | ACFCPVWPLN |
| 130 | 140 | 150 | 160 | 170 | |
| LIPLIISIMS | RSSMQQGNVD | GARRLGRLAR | LLSITLIIMG | IVIIMVAVTV | NFTVQKK |