P20290
Gene name |
BTF3 (NACB, OK/SW-cl.8) |
Protein name |
Transcription factor BTF3 |
Names |
Nascent polypeptide-associated complex subunit beta, NAC-beta, RNA polymerase B transcription factor 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:689 |
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
5 structures for P20290
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3LKX | X-ray | 250 A | A | 97-162 | PDB |
| 3MCB | X-ray | 190 A | B | 97-154 | PDB |
| 7QWQ | EM | 283 A | u | 45-206 | PDB |
| 7QWR | EM | 290 A | u | 45-206 | PDB |
| AF-P20290-F1 | Predicted | AlphaFoldDB |
133 variants for P20290
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755340655 CA360109859 |
3 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3303150 rs755340655 |
3 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360109854 rs755340655 |
3 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360109873 rs868180059 |
4 | T>I | No |
ClinGen gnomAD |
|
|
CA121246183 rs868180059 |
4 | T>K | No |
ClinGen gnomAD |
|
|
rs1277498805 CA360109894 |
5 | G>D | No |
ClinGen gnomAD |
|
|
CA360109932 rs1235897517 |
7 | P>L | No |
ClinGen gnomAD |
|
|
rs1235897517 CA360109931 |
7 | P>R | No |
ClinGen gnomAD |
|
|
CA360109924 rs1580356583 |
7 | P>S | No |
ClinGen Ensembl |
|
|
CA3303152 rs752955577 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916583663 CA121246198 |
9 | Q>H | No |
ClinGen TOPMed |
|
|
CA121246192 rs866966564 |
9 | Q>K | No |
ClinGen Ensembl |
|
|
rs758924385 CA3303153 |
10 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758924385 CA360110024 |
10 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360110042 rs1476937438 |
11 | D>A | No |
ClinGen gnomAD |
|
|
rs375502008 CA3303154 |
11 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360110064 rs1424744274 |
12 | S>P | No |
ClinGen gnomAD |
|
|
CA121246212 rs746927933 |
13 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1415192584 CA360110088 |
13 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 14 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA121246227 rs955444008 |
16 | G>D | No |
ClinGen Ensembl |
|
|
CA360110161 rs370228487 |
17 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370228487 CA3303155 |
17 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414613781 CA360110258 |
21 | G>C | No |
ClinGen gnomAD |
|
|
CA360110266 rs1337997401 |
21 | G>D | No |
ClinGen gnomAD |
|
|
CA360110283 rs1274561202 |
22 | C>R | No |
ClinGen gnomAD |
|
|
CA121246229 rs906717629 |
22 | C>Y | No |
ClinGen TOPMed |
|
|
CA3303156 rs757317946 |
23 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757317946 CA3303157 |
23 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746130133 CA3303158 |
24 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398411592 CA360110340 |
25 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1036457953 CA121246261 |
25 | G>V | No |
ClinGen TOPMed |
|
|
CA360110352 rs1386843777 |
26 | E>Q | No |
ClinGen Ensembl |
|
|
CA360110449 rs1255738287 |
32 | P>L | No |
ClinGen gnomAD |
|
|
rs1309824236 CA360110446 |
32 | P>S | No |
ClinGen TOPMed |
|
|
CA360110453 rs1316799707 |
33 | P>L | No |
ClinGen gnomAD |
|
|
CA360110460 rs1449744185 |
34 | P>L | No |
ClinGen gnomAD |
|
|
rs911238120 CA121246263 |
34 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1197916306 CA360110466 |
35 | R>L | No |
ClinGen gnomAD |
|
|
CA121246265 rs896915700 |
36 | G>D | No |
ClinGen TOPMed |
|
|
rs1478880983 CA360110481 |
38 | T>I | No |
ClinGen gnomAD |
|
|
rs1201910459 CA360110487 |
39 | R>* | No |
ClinGen gnomAD |
|
|
CA360110506 rs1421701678 |
40 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA121246266 rs1141021 |
41 | Q>E | No |
ClinGen Ensembl |
|
|
CA3303159 rs769856280 |
42 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758761066 CA3303172 |
45 | M>I | No |
ClinGen ExAC |
|
|
CA360110662 rs1392031938 |
49 | I>V | No |
ClinGen gnomAD |
|
|
rs764646227 CA3303173 |
51 | N>K | No |
ClinGen ExAC |
|
|
CA3303174 rs752042689 |
52 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA121246657 rs949816934 |
56 | A>T | No |
ClinGen Ensembl |
|
|
rs1252585619 CA360110718 |
56 | A>V | No |
ClinGen TOPMed |
|
|
rs757719063 CA3303175 |
57 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs750408507 CA121246703 |
60 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3303177 rs750408507 |
60 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1482433932 CA360110740 |
60 | A>S | No |
ClinGen TOPMed |
|
|
rs1338243858 CA360110759 |
63 | R>C | No |
ClinGen gnomAD |
|
|
CA121246705 rs926939545 |
65 | G>S | No |
ClinGen Ensembl |
|
|
CA3303240 rs766853542 |
71 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1192476330 CA360111316 |
72 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360111357 rs1332017959 |
75 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360111360 rs1379009626 |
75 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1162650979 CA360111371 |
76 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 79 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA121249140 rs765616938 |
80 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3303243 rs765616938 |
80 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA121249152 rs982914280 |
83 | A>V | No |
ClinGen TOPMed |
|
|
rs11556916 CA121249156 |
84 | D>Y | No |
ClinGen Ensembl |
|
|
CA3303245 rs146671283 |
86 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3303246 rs767250561 |
89 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA360111556 rs1236701690 |
92 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA360111567 rs1216363290 |
94 | K>E | No |
ClinGen gnomAD |
|
|
rs377307371 CA3303248 |
97 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377307371 CA3303249 |
97 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3303250 rs376732614 |
99 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 100 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215511257 CA360111617 |
101 | S>C | No |
ClinGen gnomAD |
|
|
rs1486582188 CA360111630 |
103 | I>S | No |
ClinGen gnomAD |
|
|
rs754868948 CA3303270 |
107 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs996682498 CA121249436 |
108 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778415639 CA3303271 |
111 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA360111703 rs1280571469 |
112 | Q>E | No |
ClinGen gnomAD |
|
|
CA121249449 rs1050429962 |
113 | G>R | No |
ClinGen gnomAD |
|
|
CA3303273 rs757993865 |
114 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3303274 rs757993865 |
114 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3303275 rs747392162 |
115 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA360111722 rs747392162 |
115 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA360111724 rs1256094316 |
116 | I>V | No |
ClinGen gnomAD |
|
|
rs878981435 CA121249474 |
121 | P>L | No |
ClinGen Ensembl |
|
|
rs966602011 CA121249478 |
122 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 123 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182433703 CA360111782 |
124 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360111801 rs1367160041 |
127 | L>V | No |
ClinGen TOPMed |
|
|
CA360111811 rs1234453441 |
129 | A>T | No |
ClinGen gnomAD |
|
|
CA360111814 rs1161723411 |
129 | A>V | No |
ClinGen gnomAD |
|
|
CA3303278 rs746411488 |
133 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA121249508 rs41271745 |
140 | T>A | No |
ClinGen Ensembl |
|
|
rs1409951460 CA360111889 |
140 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422354682 CA360111926 |
146 | M>V | No |
ClinGen TOPMed |
|
|
CA121249539 rs201235182 |
150 | I>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA121249526 rs143150590 |
150 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1282265190 CA360111985 |
154 | L>P | No |
ClinGen gnomAD |
|
|
CA3303283 rs372460087 |
156 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360112009 rs1207304383 |
158 | S>N | No |
ClinGen TOPMed |
|
|
CA360112012 rs1318635089 |
158 | S>R | No |
ClinGen TOPMed |
|
|
CA3303285 rs766190108 |
161 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA360112031 rs1580358844 |
161 | S>R | No |
ClinGen Ensembl |
|
|
COSM177818 CA3303287 rs186931485 |
167 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA121250343 rs2703643 |
174 | V>G | No |
ClinGen Ensembl |
|
|
rs772223535 CA3303307 |
174 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1311504384 CA360112184 |
175 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 178 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 178 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12332640 CA121250346 |
178 | A>T | No |
ClinGen Ensembl |
|
|
CA3303309 rs759324851 |
179 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773022738 CA121250350 |
180 | L>F | No |
ClinGen TOPMed |
|
|
CA360112253 rs1163491446 |
181 | A>G | No |
ClinGen gnomAD |
|
|
rs765146287 CA3303310 |
182 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1426913618 CA360112269 |
183 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1300448238 CA360112265 |
183 | G>R | No |
ClinGen TOPMed |
|
|
CA3303313 rs760319904 |
185 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360112303 rs1383736852 |
186 | D>E | No |
ClinGen gnomAD |
|
|
CA121250392 rs991534070 |
186 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA360112357 rs1369153040 |
191 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs763692757 CA3303315 |
192 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360112473 rs1176430427 |
195 | E>G | No |
ClinGen gnomAD |
|
|
CA360112486 rs1464051814 |
196 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34963032 CA121250962 |
203 | N>K | No |
ClinGen Ensembl |
|
|
rs1310848022 CA360112624 |
206 | N>S | No |
ClinGen gnomAD |
No associated diseases with P20290
1 regional properties for P20290
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Major facilitator superfamily domain | 80 - 495 | IPR020846 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nascent polypeptide-associated complex | A heterodimeric protein complex that can reversibly bind to ribosomes, and is located in direct proximity to newly synthesized polypeptide chains as they emerge from the ribosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| polysomal ribosome | A ribosome bound to mRNA that forms part of a polysome. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of protein localization to endoplasmic reticulum | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to endoplasmic reticulum. |
| 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. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5M8V0 | btf3l4 | Transcription factor BTF3 homolog 4 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRRTGAPAQA | DSRGRGRARG | GCPGGEATLS | QPPPRGGTRG | QEPQMKETIM | NQEKLAKLQA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QVRIGGKGTA | RRKKKVVHRT | ATADDKKLQF | SLKKLGVNNI | SGIEEVNMFT | NQGTVIHFNN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PKVQASLAAN | TFTITGHAET | KQLTEMLPSI | LNQLGADSLT | SLRRLAEALP | KQSVDGKAPL |
| 190 | 200 | ||||
| ATGEDDDDEV | PDLVENFDEA | SKNEAN |