Q9UQ80
Gene name |
PA2G4 (EBP1) |
Protein name |
Proliferation-associated protein 2G4 |
Names |
Cell cycle protein p38-2G4 homolog, hG4-1, ErbB3-binding protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5036 |
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
15 structures for Q9UQ80
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2Q8K | X-ray | 160 A | A | 2-394 | PDB |
| 3J2I | EM | 1190 A | A | 1-394 | PDB |
| 6CHT | X-ray | 317 A | C/F/I/L | 349-368 | PDB |
| 6LSR | EM | 313 A | z | 1-394 | PDB |
| 6SXO | EM | 330 A | A | 1-394 | PDB |
| 6WM8 | X-ray | 260 A | A/B/C | 2-362 | PDB |
| 6Z6L | EM | 300 A | CA | 1-394 | PDB |
| 6Z6M | EM | 310 A | CA | 1-394 | PDB |
| 6Z6N | EM | 290 A | CA | 1-394 | PDB |
| 6ZM7 | EM | 270 A | CA | 1-394 | PDB |
| 6ZME | EM | 300 A | CA | 1-394 | PDB |
| 6ZMI | EM | 260 A | CA | 1-394 | PDB |
| 6ZMO | EM | 310 A | CA | 1-394 | PDB |
| 7BHP | EM | 330 A | A | 1-394 | PDB |
| AF-Q9UQ80-F1 | Predicted | AlphaFoldDB |
144 variants for Q9UQ80
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA385326684 rs1359795464 |
2 | S>P | No |
ClinGen TOPMed |
|
|
CA385326699 rs747250149 |
3 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747250149 CA6623148 |
3 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300108107 CA385326716 |
4 | E>D | No |
ClinGen gnomAD |
|
|
rs1226822777 CA385326731 |
5 | D>E | No |
ClinGen gnomAD |
|
|
rs770956250 CA6623149 |
5 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA385326790 rs1390301075 |
8 | Q>* | No |
ClinGen gnomAD |
|
|
CA385326798 rs1455560035 |
8 | Q>L | No |
ClinGen TOPMed |
|
|
rs1256611986 CA385326807 |
9 | E>Q | No |
ClinGen gnomAD |
|
|
CA385326923 rs1384371556 |
14 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1187712298 CA385326953 |
16 | L>V | No |
ClinGen TOPMed |
|
|
rs1592234525 CA385326983 |
17 | V>G | No |
ClinGen Ensembl |
|
|
rs1188903304 CA385327081 |
22 | K>M | No |
ClinGen gnomAD |
|
|
CA6623153 rs144476801 |
23 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
rs1592234542 CA385327195 |
28 | A>T | No |
ClinGen Ensembl |
|
|
CA385327206 rs1447247472 |
28 | A>V | No |
ClinGen gnomAD |
|
|
CA385327764 rs772926383 |
33 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623180 rs772926383 |
33 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623182 rs765932783 |
35 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA237634406 rs71459343 |
42 | G>S | No |
ClinGen gnomAD |
|
|
CA6623184 rs763489054 |
45 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385327926 rs1342340629 |
47 | S>I | No |
ClinGen gnomAD |
|
|
CA385327943 rs1233375738 |
50 | E>Q | No |
ClinGen TOPMed |
|
|
rs1231686003 CA385328006 |
54 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1231686003 CA385328004 |
54 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6623185 rs764417136 |
56 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150178932 CA6623186 |
57 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757495162 CA6623187 |
60 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767567758 CA6623188 |
62 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1325438406 CA385328118 |
63 | I>V | No |
ClinGen TOPMed |
|
|
rs1565864011 CA385328181 |
67 | E>* | No |
ClinGen Ensembl |
|
|
rs1168359617 CA385328270 |
73 | G>S | No |
ClinGen gnomAD |
|
|
rs148811324 CA6623214 |
74 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1026132241 CA237634752 |
79 | S>N | No |
ClinGen TOPMed |
|
|
CA385328417 rs1278287867 |
80 | I>V | No |
ClinGen TOPMed |
|
|
rs984984418 CA237634763 |
82 | V>I | No |
ClinGen Ensembl |
|
|
rs908870365 CA237634769 |
86 | V>I | No |
ClinGen Ensembl |
|
|
CA385328623 rs1219296678 |
92 | L>F | No |
ClinGen gnomAD |
|
|
rs565003154 CA237634780 |
93 | K>R | No |
ClinGen Ensembl |
|
|
rs948397871 CA237634785 |
95 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778940396 CA6623218 |
99 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237634792 rs980340247 |
100 | L>F | No |
ClinGen Ensembl |
|
|
CA6623219 rs114268672 |
106 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6623234 rs772303778 |
109 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623235 rs773685227 |
110 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA385329256 rs1322503711 |
118 | I>V | No |
ClinGen gnomAD |
|
|
rs1266911478 CA385329275 |
119 | A>G | No |
ClinGen gnomAD |
|
|
COSM166719 CA385329268 rs1592235275 |
119 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA385329381 rs754128407 |
125 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565864140 CA385330049 |
129 | V>A | No |
ClinGen Ensembl |
|
|
rs1168616877 CA385330137 |
132 | G>E | No |
ClinGen gnomAD |
|
|
CA6623251 rs772704689 |
133 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA385330152 rs1185101770 |
133 | T>S | No |
ClinGen TOPMed |
|
|
CA237635003 rs773987525 |
138 | R>K | No |
ClinGen Ensembl |
|
|
CA237635010 rs941114737 |
139 | K>R | No |
ClinGen TOPMed |
|
|
CA237635014 rs368713215 |
140 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs773599039 CA6623252 |
142 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969725312 CA237635022 |
153 | A>V | No |
ClinGen Ensembl |
|
|
CA385330490 rs1313191144 |
155 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 161 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 162 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385330695 rs1297982162 |
164 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1041473162 CA237635857 |
164 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 167 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6623266 rs551324670 |
171 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6623267 rs377104846 |
172 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333861475 CA385330836 |
174 | A>G | No |
ClinGen TOPMed |
|
|
rs754462853 CA6623268 |
175 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385330876 rs1408490772 |
180 | T>A | No |
ClinGen TOPMed |
|
|
CA6623270 rs200413925 |
180 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6623272 rs367753477 |
182 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385330915 rs1263402549 |
183 | E>* | No |
ClinGen gnomAD |
|
|
rs768750897 CA6623295 |
186 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761734734 CA6623297 |
188 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385331815 rs1367589959 |
196 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6623298 rs767374029 |
198 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778183934 CA237636230 |
204 | N>S | No |
ClinGen Ensembl |
|
|
rs760410535 CA237636235 |
210 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760410535 CA6623300 |
210 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385332076 rs1354720893 |
212 | D>E | No |
ClinGen TOPMed |
|
| rs34197050 | 216 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 218 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385332190 rs1220341111 |
221 | H>Y | No |
ClinGen gnomAD |
|
|
CA385332274 rs1307543120 |
228 | V>I | No |
ClinGen gnomAD |
|
|
rs1207313100 CA385332288 |
229 | L>F | No |
ClinGen gnomAD |
|
|
rs11549086 CA6623326 |
230 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623328 rs760567113 |
234 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA385332398 rs1223334854 |
237 | A>S | No |
ClinGen TOPMed |
|
|
CA385332450 rs1308430550 |
240 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 242 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 245 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367700438 COSM3704274 CA6623348 |
246 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1171359272 CA385332620 |
250 | D>A | No |
ClinGen gnomAD |
|
|
rs775245696 CA6623351 |
261 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1468032069 CA385332843 |
263 | R>H | No |
ClinGen gnomAD |
|
|
CA385332911 rs1440304969 |
267 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 275 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385333101 rs1174918188 |
277 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 282 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM673813 rs959607996 CA237636789 |
297 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA237636798 rs138795633 |
307 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs757246439 CA6623381 |
308 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781375175 CA6623382 |
309 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1330130462 CA385333733 |
312 | E>A | No |
ClinGen gnomAD |
|
|
CA385333741 rs1187413163 |
313 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1219974885 CA385333923 |
327 | P>L | No |
ClinGen TOPMed |
|
|
rs751702019 CA6623402 |
328 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs762145974 CA6623403 |
328 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1471018063 CA385333943 |
330 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385333953 rs1205252856 |
331 | M>I | No |
ClinGen gnomAD |
|
|
COSM3398886 CA385333960 rs1253561691 |
332 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs371016159 CA6623405 |
335 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756275049 CA385334025 |
337 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756275049 CA6623406 |
337 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237636959 rs968513268 |
339 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs138090957 CA385334068 |
340 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138090957 CA6623408 |
340 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs531365781 CA6623409 |
344 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6623410 rs778814972 |
345 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747740989 CA6623411 |
348 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777291456 CA6623413 |
352 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA237637182 rs1018968003 |
356 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385334849 rs1208555777 |
357 | L>F | No |
ClinGen gnomAD |
|
|
rs1267175494 CA385334905 |
363 | S>C | No |
ClinGen gnomAD |
|
|
rs1184260509 CA385334916 |
364 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 366 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385334950 rs1439191167 |
367 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385335040 rs1426522769 COSM941504 |
372 | K>N | endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| rs746871475 | 372 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1174297940 | 373 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 373 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6623446 rs114006569 |
373 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385335224 rs1255423528 |
377 | T>I | No |
ClinGen gnomAD |
|
|
CA237638139 rs969183779 |
385 | E>D | No |
ClinGen Ensembl |
|
|
CA385335290 rs1592236948 |
385 | E>G | No |
ClinGen Ensembl |
|
|
rs576915957 CA6623477 |
385 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 388 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464848883 CA385335319 |
389 | E>V | No |
ClinGen gnomAD |
|
|
CA237638145 rs759262787 |
391 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 394 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 395 | D>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9UQ80
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of 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. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| nucleic acid binding | Binding to a nucleic acid. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
| regulation of translation | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGEDEQQEQ | TIAEDLVVTK | YKMGGDIANR | VLRSLVEASS | SGVSVLSLCE | KGDAMIMEET |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKIFKKEKEM | KKGIAFPTSI | SVNNCVCHFS | PLKSDQDYIL | KEGDLVKIDL | GVHVDGFIAN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VAHTFVVDVA | QGTQVTGRKA | DVIKAAHLCA | EAALRLVKPG | NQNTQVTEAW | NKVAHSFNCT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PIEGMLSHQL | KQHVIDGEKT | IIQNPTDQQK | KDHEKAEFEV | HEVYAVDVLV | SSGEGKAKDA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GQRTTIYKRD | PSKQYGLKMK | TSRAFFSEVE | RRFDAMPFTL | RAFEDEKKAR | MGVVECAKHE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLQPFNVLYE | KEGEFVAQFK | FTVLLMPNGP | MRITSGPFEP | DLYKSEMEVQ | DAELKALLQS |
| 370 | 380 | 390 | |||
| SASRKTQKKK | KKKASKTAEN | ATSGETLEEN | EAGD |