Q9BZ81
PR
Gene name |
MAGEB5 |
Protein name |
Melanoma-associated antigen B5 |
Names |
Cancer/testis antigen 3.3, CT3.3, MAGE-B5 antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:347541 |
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 Q9BZ81
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BZ81-F1 | Predicted | AlphaFoldDB |
163 variants for Q9BZ81
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 4 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1043165462 CA327826624 |
4 | A>V | No |
ClinGen TOPMed |
|
|
CA412614253 rs765804904 |
12 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327826625 rs188995747 |
13 | E>K | No |
ClinGen 1000Genomes |
|
|
CA327826626 rs1044694528 |
14 | R>K | No |
ClinGen TOPMed |
|
|
rs1282866621 CA412614273 |
16 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs147662585 CA10374537 |
17 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147662585 CA10374538 |
17 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768082920 CA327826628 |
20 | E>A | No |
ClinGen Ensembl |
|
|
rs1204752973 CA412614309 |
21 | E>K | No |
ClinGen gnomAD |
|
|
rs1167524979 CA412614319 |
22 | Y>D | No |
ClinGen TOPMed |
|
|
rs1167524979 CA412614318 |
22 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377152253 CA412614338 |
24 | C>W | No |
ClinGen Ensembl |
|
| TCGA novel | 27 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412614381 rs1380984191 |
31 | S>C | No |
ClinGen gnomAD |
|
|
CA412614380 rs1380984191 |
31 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412614383 rs1417414374 |
32 | T>P | No |
ClinGen TOPMed |
|
|
rs1034336412 CA327826630 |
33 | E>D | No |
ClinGen TOPMed |
|
|
CA412614413 rs1194553294 |
36 | C>Y | No |
ClinGen TOPMed |
|
|
rs769846941 CA327826631 |
37 | S>I | No |
ClinGen 1000Genomes |
|
|
CA412614425 rs1413988788 |
38 | N>H | No |
ClinGen gnomAD |
|
|
CA412614461 rs1190498147 |
42 | I>S | No |
ClinGen gnomAD |
|
|
rs1361144315 CA412614457 |
42 | I>V | No |
ClinGen gnomAD |
|
|
CA10374539 rs749365221 |
43 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA327826633 rs768567669 |
43 | K>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs774664080 CA327826634 |
53 | Y>* | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1449649386 CA412614568 |
57 | M>I | No |
ClinGen gnomAD |
|
|
rs1451991580 CA412614564 |
57 | M>K | No |
ClinGen TOPMed |
|
|
CA327826635 rs1010723268 |
59 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA327826636 rs748454171 |
60 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs754656027 CA10374541 |
60 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412614588 rs754656027 |
60 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10374542 rs780625243 |
61 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA412614609 rs1359198969 |
63 | K>N | No |
ClinGen TOPMed |
|
|
rs181076768 CA327826638 |
64 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| TCGA novel | 64 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 65 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 65 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327826639 rs953334441 |
69 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 73 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 73 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10374543 rs747634961 |
78 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs772484567 CA327826640 |
79 | A>S | No |
ClinGen 1000Genomes |
|
|
rs1015207842 CA327826641 |
79 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1458968938 CA412614723 |
80 | E>K | No |
ClinGen gnomAD |
|
|
CA412614761 rs1328427924 |
85 | A>P | No |
ClinGen TOPMed |
|
|
rs1328427924 CA412614760 |
85 | A>T | No |
ClinGen TOPMed |
|
|
rs769253361 CA10374544 |
85 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477714995 CA412614779 |
88 | H>N | No |
ClinGen gnomAD |
|
|
CA412614791 rs1189565544 |
89 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA412614790 rs1189565544 |
89 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 90 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773154006 CA10374545 |
94 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470409979 CA412614837 |
96 | D>G | No |
ClinGen gnomAD |
|
|
rs1170322916 CA412614863 |
99 | E>D | No |
ClinGen gnomAD |
|
|
rs184670495 CA327826644 |
100 | V>I | No |
ClinGen 1000Genomes |
|
|
rs1398543269 CA412614869 |
101 | N>H | No |
ClinGen gnomAD |
|
|
rs1185984042 CA412614879 |
102 | P>S | No |
ClinGen TOPMed |
|
|
CA412614877 rs1185984042 |
102 | P>T | No |
ClinGen TOPMed |
|
|
CA327826645 rs953103990 |
103 | T>I | No |
ClinGen TOPMed |
|
|
CA327826646 rs985789190 |
109 | L>P | No |
ClinGen TOPMed |
|
|
rs965777885 CA327826647 |
110 | V>F | No |
ClinGen Ensembl |
|
|
rs1467525875 CA412614951 |
112 | K>N | No |
ClinGen gnomAD |
|
|
rs976845665 CA327826648 |
113 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1255771585 CA412615001 |
120 | R>K | No |
ClinGen gnomAD |
|
|
CA412615019 rs1305376023 |
122 | H>Q | No |
ClinGen TOPMed |
|
|
CA327826650 rs966047752 |
123 | V>I | No |
ClinGen TOPMed |
|
|
rs1319649504 CA412615052 |
127 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1569260795 CA412615058 |
128 | P>L | No |
ClinGen Ensembl |
|
|
CA412615054 rs1199068510 |
128 | P>S | No |
ClinGen gnomAD |
|
|
CA412615060 rs1306204657 |
129 | K>E | No |
ClinGen TOPMed |
|
|
rs1288992877 CA412615063 |
129 | K>R | No |
ClinGen gnomAD |
|
|
rs1439165220 CA412615068 |
130 | T>S | No |
ClinGen TOPMed |
|
|
CA10374546 rs749164814 |
130 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs977039161 CA412615076 |
131 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA327826651 rs977039161 |
131 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1248526091 CA412615077 |
132 | L>I | No |
ClinGen gnomAD |
|
|
rs930123931 CA327826653 |
135 | T>N | No |
ClinGen TOPMed |
|
|
rs918697642 CA327826652 |
135 | T>P | No |
ClinGen Ensembl |
|
|
rs770715322 CA10374547 |
138 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA412615151 rs1169900467 |
143 | K>I | No |
ClinGen TOPMed |
|
|
CA412615226 CA327826656 rs1043215954 |
153 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs760862495 CA10374549 |
153 | W>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412615236 rs1404091996 |
155 | F>L | No |
ClinGen gnomAD |
|
|
CA327826657 rs910056141 |
157 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327826658 rs926053759 |
170 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1238610247 CA412615349 |
170 | Y>H | No |
ClinGen TOPMed |
|
|
rs776610331 CA10374551 |
171 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765363905 CA412615370 |
173 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765363905 CA10374553 |
173 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA412615392 rs1354081606 |
176 | L>P | No |
ClinGen gnomAD |
|
|
CA412615396 rs1229951253 |
177 | I>V | No |
ClinGen gnomAD |
|
|
rs750983045 CA10374554 |
179 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA412615423 rs1490515623 |
181 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs566246526 CA412615431 |
182 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566246526 CA10374556 |
182 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA327826660 rs868568630 |
183 | R>K | No |
ClinGen TOPMed |
|
|
CA412615445 rs1489381345 |
184 | L>P | No |
ClinGen gnomAD |
|
|
CA412615451 rs1194249073 |
185 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10374558 rs754636509 |
189 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA327826662 rs1003643226 |
192 | V>L | No |
ClinGen Ensembl |
|
|
CA327826663 rs1052176960 |
194 | C>* | No |
ClinGen Ensembl |
|
|
rs200291700 CA327826664 |
198 | A>E | No |
ClinGen Ensembl |
|
|
rs780866947 CA10374559 |
199 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA412615544 rs1386442339 |
199 | H>Y | No |
ClinGen gnomAD |
|
|
rs755634192 CA327826665 |
200 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755634192 CA10374561 |
200 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550598433 CA10374562 |
203 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1333166717 CA412615585 |
205 | G>S | No |
ClinGen gnomAD |
|
|
rs1338426581 CA412615591 |
206 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412615593 rs1338426581 |
206 | P>T | No |
ClinGen gnomAD |
|
|
rs1371471647 CA412615604 |
208 | A>T | No |
ClinGen TOPMed |
|
|
CA327826666 rs1014638986 |
208 | A>V | No |
ClinGen TOPMed |
|
|
rs749300013 CA327826667 |
209 | Y>C | No |
ClinGen Ensembl |
|
|
rs1022051035 CA327826669 |
219 | E>D | No |
ClinGen Ensembl |
|
|
rs1377299860 CA412615681 |
219 | E>Q | No |
ClinGen TOPMed |
|
|
CA412615685 rs1283933604 |
219 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1356018872 CA412615707 |
222 | A>V | No |
ClinGen gnomAD |
|
|
rs1205881097 CA412615712 |
223 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA412615749 rs1244181825 |
228 | A>G | No |
ClinGen gnomAD |
|
|
CA412615750 rs1244181825 |
228 | A>V | No |
ClinGen gnomAD |
|
|
rs777019791 CA412615758 |
230 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs762073667 CA10374570 |
230 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10374569 rs777019791 |
230 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA327826670 rs773889831 |
231 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA412615764 rs773889831 |
231 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA412615767 rs1453874797 |
232 | F>L | No |
ClinGen gnomAD |
|
|
rs770002313 CA10374571 |
233 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10374572 rs773422652 |
243 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327826671 rs866701340 |
246 | S>R | No |
ClinGen Ensembl |
|
|
rs1460377427 CA412615880 |
247 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10374573 rs763614167 |
250 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444460249 CA412615921 |
253 | R>* | No |
ClinGen gnomAD |
|
|
CA10374574 rs766888257 |
253 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10374575 rs751910895 |
255 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412615944 rs1239897729 |
256 | H>R | No |
ClinGen gnomAD |
|
|
CA327826672 rs770868713 |
257 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA327826673 rs754254401 |
259 | S>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA327826674 rs774405128 |
259 | S>T | No |
ClinGen gnomAD |
|
|
CA327826675 rs1025734630 |
260 | G>D | No |
ClinGen gnomAD |
|
|
rs762558540 CA10374576 |
261 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1177256487 CA412615983 |
262 | D>H | No |
ClinGen gnomAD |
|
|
rs767716613 CA10374577 |
263 | C>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419114498 CA412616007 |
265 | R>S | No |
ClinGen gnomAD |
|
|
rs1306581971 CA412616006 |
265 | R>T | No |
ClinGen TOPMed |
|
|
CA10374579 rs752349383 |
266 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752349383 CA10374578 |
266 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 267 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412616019 rs1467233859 |
267 | K>N | No |
ClinGen gnomAD |
|
|
CA327826678 rs866358375 |
267 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 269 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777319530 CA10374580 |
269 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399202306 CA412616050 |
271 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA327826679 rs866867006 |
272 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 272 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10374581 rs753321076 |
275 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9BZ81
1 regional properties for Q9BZ81
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | MAGE homology domain | 40 - 239 | IPR002190 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43356 | MAGEA2B | Melanoma-associated antigen 2 | Homo sapiens (Human) | PR |
| O15479 | MAGEB2 | Melanoma-associated antigen B2 | Homo sapiens (Human) | PR |
| O15480 | MAGEB3 | Melanoma-associated antigen B3 | Homo sapiens (Human) | PR |
| P43355 | MAGEA1 | Melanoma-associated antigen 1 | Homo sapiens (Human) | PR |
| P43357 | MAGEA3 | Melanoma-associated antigen 3 | Homo sapiens (Human) | PR |
| P43358 | MAGEA4 | Melanoma-associated antigen 4 | Homo sapiens (Human) | PR |
| P43360 | MAGEA6 | Melanoma-associated antigen 6 | Homo sapiens (Human) | PR |
| P43361 | MAGEA8 | Melanoma-associated antigen 8 | Homo sapiens (Human) | PR |
| P43363 | MAGEA10 | Melanoma-associated antigen 10 | Homo sapiens (Human) | PR |
| P43365 | MAGEA12 | Melanoma-associated antigen 12 | Homo sapiens (Human) | PR |
| Q8TD90 | MAGEE2 | Melanoma-associated antigen E2 | Homo sapiens (Human) | PR |
| Q96MG7 | NSMCE3 | Non-structural maintenance of chromosomes element 3 homolog | Homo sapiens (Human) | PR |
| Q9HAY2 | MAGEF1 | Melanoma-associated antigen F1 | Homo sapiens (Human) | PR |
| P43364 | MAGEA11 | Melanoma-associated antigen 11 | Homo sapiens (Human) | PR |
| Q9UNF1 | MAGED2 | Melanoma-associated antigen D2 | Homo sapiens (Human) | PR |
| Q9Y5V3 | MAGED1 | Melanoma-associated antigen D1 | Homo sapiens (Human) | PR |
| Q96JG8 | MAGED4B | Melanoma-associated antigen D4 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSAGVFNAG | SDERANSRDE | EYPCSSEVSP | STESSCSNFI | NIKVGLLEQF | LLYKFKMKQR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILKEDMLKIV | NPRYQNQFAE | IHRRASEHIE | VVFAVDLKEV | NPTCHLYDLV | SKLKLPNNGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IHVGKVLPKT | GLLMTFLVVI | FLKGNCANKE | DTWKFLDMMQ | IYDGKKYYIY | GEPRKLITQD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FVRLTYLEYH | QVPCSYPAHY | QFLWGPRAYT | ETSKMKVLEY | LAKVNDIAPG | AFSSQYEEAL |
| 250 | 260 | 270 | |||
| QDEEESPSQR | CSRNWHYCSG | QDCLRAKFSS | FSQPY |