Q99801
Gene name |
NKX3-1 |
Protein name |
Homeobox protein Nkx-3.1 |
Names |
Homeobox protein NK-3 homolog A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4824 |
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

2 structures for Q99801
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2L9R | NMR | - | A | 132-189 | PDB |
AF-Q99801-F1 | Predicted | AlphaFoldDB |
240 variants for Q99801
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs768668734 CA4677923 |
3 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370605386 rs1267660944 |
3 | R>S | No |
ClinGen gnomAD |
|
rs577623101 CA174001635 |
4 | V>I | No |
ClinGen 1000Genomes TOPMed |
|
CA370605374 rs1285897954 |
5 | P>L | No |
ClinGen TOPMed |
|
CA370605364 rs1326340072 |
7 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA370605360 rs1261836549 |
7 | P>L | No |
ClinGen gnomAD |
|
rs1326340072 CA370605363 |
7 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA370605365 rs1326340072 |
7 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA4677921 rs775772672 |
8 | R>P | No |
ClinGen ExAC gnomAD |
|
CA370605352 rs1297199959 |
9 | P>L | No |
ClinGen gnomAD |
|
rs745651520 CA4677919 |
10 | G>A | No |
ClinGen ExAC gnomAD |
|
CA4677920 CA370605349 rs199879315 |
10 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA370605344 rs1454142087 |
11 | E>Q | No |
ClinGen gnomAD |
|
CA370605322 rs1462253726 |
14 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA370605320 rs1374642281 |
14 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA370605310 rs1427001113 |
15 | E>D | No |
ClinGen gnomAD |
|
rs1247467088 CA370605307 |
16 | G>R | No |
ClinGen gnomAD |
|
CA4677914 rs57111114 |
17 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4677913 rs752189119 |
18 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1332416473 CA370605274 |
22 | P>A | No |
ClinGen TOPMed |
|
CA4677912 rs780877207 |
22 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370605272 rs780877207 |
22 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1308934846 CA370605268 |
23 | S>P | No |
ClinGen TOPMed |
|
rs1563298304 CA370605252 |
25 | P>Q | No |
ClinGen Ensembl |
|
rs962693280 CA174001574 |
25 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA4677910 rs751259434 |
27 | T>A | No |
ClinGen ExAC gnomAD |
|
CA4677908 rs375526684 |
27 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375526684 CA4677909 |
27 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4677905 rs760710802 |
30 | L>F | No |
ClinGen ExAC gnomAD |
|
CA370605225 rs1398321563 |
30 | L>R | No |
ClinGen gnomAD |
|
rs760710802 CA4677906 |
30 | L>V | No |
ClinGen ExAC gnomAD |
|
rs998940798 CA174001557 |
33 | D>H | No |
ClinGen Ensembl |
|
rs767654937 CA4677903 |
36 | R>P | No |
ClinGen ExAC gnomAD |
|
rs1023751485 CA174001555 |
36 | R>W | No |
ClinGen TOPMed |
|
CA4677902 rs759635441 |
37 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs371246224 CA4677901 |
38 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
CA370605171 rs1438951952 |
39 | A>E | No |
ClinGen gnomAD |
|
rs770792266 CA4677900 |
39 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs556114777 CA4677899 |
40 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA370605168 rs1194399427 |
40 | Q>P | No |
ClinGen gnomAD |
|
CA370605163 rs1585244174 |
41 | R>G | No |
ClinGen Ensembl |
|
rs769902120 CA4677897 |
41 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769902120 CA4677898 |
41 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4677895 rs780531112 |
42 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA174001528 rs889105602 |
43 | G>C | No |
ClinGen TOPMed |
|
CA4677894 rs754523359 |
43 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746588963 CA370605145 |
44 | G>A | No |
ClinGen ExAC gnomAD |
|
CA4677893 rs746588963 |
44 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1465585673 CA370605148 |
44 | G>S | No |
ClinGen TOPMed |
|
rs377326314 CA4677892 |
45 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA370605142 rs1337410944 |
45 | R>H | No |
ClinGen gnomAD |
|
rs377326314 CA370605144 |
45 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4677891 rs757610599 |
46 | T>M | No |
ClinGen ExAC |
|
CA4677887 rs753277029 |
47 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1365972378 CA370605122 |
48 | S>I | No |
ClinGen gnomAD |
|
rs767428389 CA4677886 |
48 | S>R | No |
ClinGen ExAC gnomAD |
|
CA370605118 rs1426862155 |
49 | Q>* | No |
ClinGen gnomAD |
|
CA4677884 rs2228013 VAR_011612 |
52 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs566595925 CA4677883 |
53 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs766749717 CA4677882 |
54 | P>A | No |
ClinGen ExAC gnomAD |
|
rs762820297 CA4677881 |
54 | P>R | No |
ClinGen ExAC gnomAD |
|
CA370605074 rs1585244121 |
55 | E>D | No |
ClinGen Ensembl |
|
CA4677880 rs747972625 COSM140603 |
56 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA4677879 rs747972625 |
56 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747972625 CA4677878 |
56 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1270136920 CA370605066 |
57 | E>A | No |
ClinGen gnomAD |
|
rs1290540018 CA370605065 |
57 | E>D | No |
ClinGen gnomAD |
|
CA174001481 rs1036449900 |
57 | E>Q | No |
ClinGen Ensembl |
|
rs940861134 CA174001478 |
58 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1259390468 CA370605051 |
59 | E>D | No |
ClinGen TOPMed |
|
CA174001473 rs908335165 |
60 | P>A | No |
ClinGen TOPMed |
|
CA370605046 rs1224211749 |
60 | P>L | No |
ClinGen gnomAD |
|
CA370605049 rs908335165 |
60 | P>S | No |
ClinGen TOPMed |
|
CA4677876 rs776156075 |
62 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4677875 rs768042328 |
62 | P>L | No |
ClinGen ExAC gnomAD |
|
rs746600226 CA4677874 |
63 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs900158612 CA174001456 |
64 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA370605017 rs1345904782 |
65 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA370605014 rs55910090 |
66 | R>C | No |
ClinGen gnomAD |
|
rs779646488 CA4677870 |
66 | R>H | No |
ClinGen ExAC gnomAD |
|
rs55910090 CA174001453 |
66 | R>S | No |
ClinGen gnomAD |
|
CA4677869 rs758091147 |
69 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370604997 rs758091147 |
69 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA174001443 rs930991062 |
69 | A>V | No |
ClinGen gnomAD |
|
CA370604992 CA370604993 rs1323149986 |
70 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1401299939 CA370604988 |
70 | G>V | No |
ClinGen gnomAD |
|
rs1323149986 CA370604991 |
70 | G>W | No |
ClinGen TOPMed gnomAD |
|
CA4677868 rs745540248 |
71 | A>E | No |
ClinGen ExAC gnomAD |
|
CA4677865 rs753086212 |
74 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1477262365 CA370604940 |
77 | S>R | No |
ClinGen gnomAD |
|
rs781751508 CA4677864 |
78 | T>A | No |
ClinGen ExAC gnomAD |
|
CA174001428 rs959942038 |
78 | T>I | No |
ClinGen TOPMed |
|
CA370604932 rs1193469070 |
79 | G>R | No |
ClinGen gnomAD |
|
CA4677863 rs755007639 |
80 | P>S | No |
ClinGen ExAC gnomAD |
|
rs751739256 CA4677862 |
83 | A>S | No |
ClinGen ExAC gnomAD |
|
CA4677859 rs769698076 |
84 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4677860 rs551706518 |
84 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA370604893 rs1328246472 |
86 | E>Q | No |
ClinGen gnomAD |
|
CA370604878 rs1280668959 |
88 | E>K | No |
ClinGen TOPMed |
|
rs761729474 CA4677856 |
89 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1340529539 CA370604869 |
89 | T>K | No |
ClinGen TOPMed |
|
CA4677854 rs768675345 |
91 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4677853 rs760076949 |
92 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA370604845 rs1021743701 |
93 | T>N | No |
ClinGen gnomAD |
|
CA174001396 rs1021743701 |
93 | T>S | No |
ClinGen gnomAD |
|
CA370604839 rs1245843205 |
94 | E>D | No |
ClinGen gnomAD |
|
rs1011639520 CA174001390 |
94 | E>K | No |
ClinGen TOPMed |
|
rs1011639520 CA370604844 |
94 | E>Q | No |
ClinGen TOPMed |
|
rs771598336 CA4677851 |
94 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1563298044 CA370604836 |
95 | P>S | No |
ClinGen Ensembl |
|
rs1369160993 CA370604809 |
97 | R>S | No |
ClinGen gnomAD |
|
CA4677830 rs748916888 |
97 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 99 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4677829 rs781581537 |
99 | L>W | No |
ClinGen ExAC gnomAD |
|
CA370604791 rs1366871497 |
100 | G>E | No |
ClinGen gnomAD |
|
CA174000988 rs952034137 |
100 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 102 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4677825 rs758551886 |
104 | L>W | No |
ClinGen ExAC TOPMed |
|
CA370604761 rs1408537144 |
105 | D>Y | No |
ClinGen gnomAD |
|
CA370604754 rs868781535 |
106 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA174000968 rs868781535 |
106 | S>P | No |
ClinGen TOPMed gnomAD |
|
rs778976303 CA4677823 |
107 | E>D | No |
ClinGen ExAC gnomAD |
|
CA4677824 rs147240965 |
107 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757448285 CA4677822 |
108 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370604737 rs1490588087 |
109 | T>P | No |
ClinGen gnomAD |
|
rs1490588087 CA370604735 |
109 | T>S | No |
ClinGen gnomAD |
|
CA4677820 rs763879828 CA4677821 |
110 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs752617008 CA4677818 |
113 | L>P | No |
ClinGen ExAC gnomAD |
|
rs773863000 CA4677815 |
114 | P>R | No |
ClinGen ExAC gnomAD |
|
COSM1456178 rs759016206 CA4677816 |
114 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1012659513 CA174000929 |
115 | R>S | No |
ClinGen TOPMed |
|
rs1288173962 CA370604698 |
116 | L>F | No |
ClinGen gnomAD |
|
rs1346963831 CA370604684 |
118 | Q>R | No |
ClinGen gnomAD |
|
rs765838779 CA4677814 |
119 | T>A | No |
ClinGen ExAC gnomAD |
|
CA4677813 rs762601609 |
119 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765838779 CA370604680 |
119 | T>P | No |
ClinGen ExAC gnomAD |
|
rs769053755 CA4677811 |
120 | P>H | No |
ClinGen ExAC gnomAD |
|
CA4677809 rs776112993 |
121 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA4677808 rs139972728 |
122 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs569305540 CA4677807 |
123 | P>L | No |
ClinGen ExAC gnomAD |
|
CA370604653 rs569305540 |
123 | P>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 124 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA370604638 rs1189758651 |
125 | K>M | No |
ClinGen gnomAD |
|
rs757285315 CA4677805 |
125 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1189758651 CA370604639 |
125 | K>R | No |
ClinGen gnomAD |
|
rs749467152 COSM1217402 CA4677804 |
126 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs749467152 CA370604635 |
126 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370604634 rs1215218995 |
126 | R>L | No |
ClinGen TOPMed |
|
CA370604626 rs1563297569 |
127 | S>F | No |
ClinGen Ensembl |
|
rs777912792 CA4677803 |
128 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370604625 rs777912792 |
128 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1484337779 CA370604622 |
128 | R>L | No |
ClinGen TOPMed |
|
CA370604619 rs1327642172 |
129 | A>T | No |
ClinGen gnomAD |
|
rs1184467711 CA370604616 |
129 | A>V | No |
ClinGen TOPMed |
|
CA370604610 rs1585243226 |
130 | A>V | No |
ClinGen Ensembl |
|
CA4677799 rs754870999 |
132 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370604600 rs1314320986 |
132 | S>P | No |
ClinGen gnomAD |
|
CA4677800 rs754870999 |
132 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1361995501 CA370604590 |
133 | H>Q | No |
ClinGen gnomAD |
|
CA174000884 rs751458014 |
137 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765858750 CA4677797 |
138 | E>D | No |
ClinGen ExAC gnomAD |
|
CA174000878 rs751677679 |
138 | E>K | No |
ClinGen TOPMed |
|
CA370604562 rs751677679 |
138 | E>Q | No |
ClinGen TOPMed |
|
CA370604559 rs1156261414 |
138 | E>V | No |
ClinGen TOPMed |
|
rs532961866 CA4677795 |
140 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4677794 rs765024916 |
145 | H>R | No |
ClinGen ExAC |
|
rs761102947 CA4677793 |
146 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4677792 rs775943527 |
150 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1470827773 CA370604476 |
150 | S>P | No |
ClinGen gnomAD |
|
CA174000855 rs892777834 |
151 | A>T | No |
ClinGen Ensembl |
|
rs1222039563 CA370604466 |
152 | P>A | No |
ClinGen TOPMed |
|
rs1222039563 CA370604467 |
152 | P>T | No |
ClinGen TOPMed |
|
CA4677789 rs774732037 |
153 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA4677788 rs771028824 |
154 | R>G | No |
ClinGen ExAC gnomAD |
|
CA370604453 rs749394163 |
154 | R>P | No |
ClinGen ExAC gnomAD |
|
CA4677787 rs749394163 |
154 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs771028824 CA370604454 |
154 | R>W | No |
ClinGen ExAC gnomAD |
|
rs748401390 CA4677784 |
162 | K>E | No |
ClinGen ExAC gnomAD |
|
CA4677783 rs780899789 |
162 | K>M | No |
ClinGen ExAC gnomAD |
|
rs780899789 CA370604402 |
162 | K>R | No |
ClinGen ExAC gnomAD |
|
CA4677781 rs751502850 |
164 | T>M | No |
ClinGen ExAC gnomAD |
|
CA370604385 rs1299402721 |
165 | E>* | No |
ClinGen gnomAD |
|
rs1363904843 CA370604375 |
166 | T>N | No |
ClinGen gnomAD |
|
rs147493253 CA370604365 CA4677778 |
168 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
CA4677779 rs147493253 |
168 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
COSM240892 CA4677776 rs373263457 |
177 | Y>C | lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1462337389 CA370604292 |
178 | K>E | No |
ClinGen gnomAD |
|
rs138864262 CA4677774 |
178 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 179 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA370604286 rs1170727985 |
179 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 181 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA370604268 rs1200957711 |
181 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 182 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA174000815 rs1040221629 |
182 | K>Q | No |
ClinGen Ensembl |
|
CA4677772 rs774915727 |
184 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1389698201 CA370604251 |
184 | L>V | No |
ClinGen gnomAD |
|
rs1254712780 CA370604238 |
186 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs748311757 CA4677767 |
189 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1585243046 CA370604183 |
194 | H>P | No |
ClinGen Ensembl |
|
CA370604169 rs1563297408 |
196 | S>Y | No |
ClinGen Ensembl |
|
rs746822077 CA370604156 |
198 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370604155 rs746822077 |
198 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4677764 rs746822077 |
198 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750401928 CA4677761 |
199 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1391702603 CA370604154 |
199 | A>T | No |
ClinGen gnomAD |
|
rs112216055 CA174000781 |
201 | K>R | No |
ClinGen Ensembl |
|
rs778496540 CA4677760 |
202 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1369997445 CA370604120 |
204 | A>S | No |
ClinGen gnomAD |
|
CA4677757 rs764325622 |
207 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753524833 COSM183459 CA4677758 |
207 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs192773652 CA4677756 |
209 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs145218166 CA4677755 |
211 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4677754 rs766788281 |
212 | S>F | No |
ClinGen ExAC gnomAD |
|
rs769852677 CA4677751 |
213 | V>L | No |
ClinGen ExAC gnomAD |
|
CA4677752 rs769852677 |
213 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA4677750 rs761949631 |
214 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs776805818 CA4677749 |
215 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370604055 rs1352061722 |
215 | N>K | No |
ClinGen gnomAD |
|
CA4677748 rs768812820 |
217 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1350059133 CA370604019 |
220 | Y>* | No |
ClinGen gnomAD |
|
rs539709206 CA4677747 |
220 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 221 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4677746 rs775112273 |
222 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs372830582 CA4677744 |
224 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4677741 rs760842941 |
225 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4677742 rs756820704 |
225 | C>F | No |
ClinGen ExAC gnomAD |
|
rs779048659 CA4677743 |
225 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370603989 rs760842941 |
225 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370603988 rs1279217950 |
226 | V>M | No |
ClinGen gnomAD |
|
rs755672206 CA4677739 |
227 | G>D | No |
ClinGen ExAC gnomAD |
|
CA370603982 rs1157351931 |
227 | G>S | No |
ClinGen gnomAD |
|
CA4677738 rs752426352 |
231 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1246873542 CA370603952 |
231 | P>T | No |
ClinGen gnomAD |
|
CA4677737 rs766593759 |
233 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA370603940 rs766593759 |
233 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758854103 CA4677736 |
234 | W>L | No |
ClinGen ExAC gnomAD |
|
rs966856597 CA174000715 |
234 | W>R | No |
ClinGen Ensembl |
|
rs758854103 CA174000710 |
234 | W>S | No |
ClinGen ExAC gnomAD |
|
CA370603924 rs1418450504 |
235 | W>L | No |
ClinGen TOPMed |
|
CA370603928 rs1168153334 |
235 | W>Q | No |
ClinGen TOPMed |
No associated diseases with Q99801
4 regional properties for Q99801
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Homeobox domain | 122 - 186 | IPR001356 |
conserved_site | Homeobox, conserved site | 157 - 180 | IPR017970 |
domain | Homeobox domain, metazoa | 146 - 157 | IPR020479-1 |
domain | Homeobox domain, metazoa | 161 - 180 | IPR020479-2 |
5 GO annotations of cellular component
Name | Definition |
---|---|
chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
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. |
site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
15 GO annotations of molecular function
Name | Definition |
---|---|
cysteine-type endopeptidase activator activity involved in apoptotic process | Binds to and increases the rate of proteolysis catalyzed by a cysteine-type endopeptidase involved in the apoptotic process. |
DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
histone deacetylase binding | Binding to histone deacetylase. |
MADS box domain binding | Binding to a MADS box domain, a protein domain that encodes the DNA-binding MADS domain. The MADS domain binds to DNA sequences of high similarity to the motif CC |
nuclear estrogen receptor binding | Binding to a nuclear estrogen receptor. |
nuclear receptor activity | A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. |
nucleic acid binding | Binding to a nucleic acid. |
protein self-association | Binding to a domain within the same polypeptide. |
RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
transcription regulator inhibitor activity | A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification. |
46 GO annotations of biological process
Name | Definition |
---|---|
activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
androgen receptor signaling pathway | The series of molecular signals initiated by androgen binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
branching involved in prostate gland morphogenesis | The process in which the branching structure of the prostate gland is generated and organized. A branch is a division or offshoot from a main stem. |
branching morphogenesis of an epithelial tube | The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. |
cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
cellular response to hypoxia | 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 a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
cellular response to interleukin-1 | 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 interleukin-1 stimulus. |
cellular response to steroid hormone 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 a steroid hormone stimulus. |
cellular response to tumor necrosis factor | 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 a tumor necrosis factor stimulus. |
cellular response to xenobiotic 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 a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
dorsal aorta development | The progression of the dorsal aorta over time, from its initial formation to the mature structure. The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. |
epithelial cell proliferation involved in prostate gland development | The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population that contributes to the progression of the prostate gland over time. |
epithelial cell proliferation involved in salivary gland morphogenesis | The multiplication or reproduction of epithelial cells of the submandibular salivary gland, resulting in the expansion of a cell population and the shaping of the gland. |
heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
metanephros development | The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine. |
negative regulation of cell cycle G1/S phase transition | Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
negative regulation of epithelial cell proliferation | Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. |
negative regulation of epithelial cell proliferation involved in prostate gland development | Any process that decreases the rate, frequency or extent of epithelial cell proliferation that contributes to the progression of the prostate gland over time. |
negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
negative regulation of insulin-like growth factor receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of insulin-like growth factor receptor signaling. |
pharyngeal system development | The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. |
positive regulation of androgen secretion | Any process that activates or increases the frequency, rate or extent of androgen secretion. |
positive regulation of apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. |
positive regulation of cell death | Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. |
positive regulation of cell division | Any process that activates or increases the frequency, rate or extent of cell division. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process. |
positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
positive regulation of intrinsic apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
positive regulation of mitotic cell cycle | Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. |
positive regulation of phosphatidylinositol 3-kinase signaling | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
positive regulation of response to DNA damage stimulus | Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
protein kinase B signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
response to testosterone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a testosterone stimulus. |
salivary gland development | The process whose specific outcome is the progression of the salivary gland over time, from its formation to the mature structure. Salivary glands include any of the saliva-secreting exocrine glands of the oral cavity. |
somitogenesis | The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. |
10 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q90788 | NKX-2.5 | Homeobox protein Nkx-2.5 | Gallus gallus (Chicken) | PR |
P52952 | NKX2-5 | Homeobox protein Nkx-2.5 | Homo sapiens (Human) | PR |
P42582 | Nkx2-5 | Homeobox protein Nkx-2.5 | Mus musculus (Mouse) | PR |
P97503 | Nkx3-2 | Homeobox protein Nkx-3.2 | Mus musculus (Mouse) | PR |
P70397 | Dlx6 | Homeobox protein DLX-6 | Mus musculus (Mouse) | PR |
Q9FN29 | ATHB-52 | Homeobox-leucine zipper protein ATHB-52 | Arabidopsis thaliana (Mouse-ear cress) | PR |
P46603 | HAT9 | Homeobox-leucine zipper protein HAT9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9M276 | ATHB-12 | Homeobox-leucine zipper protein ATHB-12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q98875 | dlx1a | Homeobox protein Dlx1a | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
Q98878 | dlx4b | Homeobox protein Dlx4b | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MLRVPEPRPG | EAKAEGAAPP | TPSKPLTSFL | IQDILRDGAQ | RQGGRTSSQR | QRDPEPEPEP |
70 | 80 | 90 | 100 | 110 | 120 |
EPEGGRSRAG | AQNDQLSTGP | RAAPEEAETL | AETEPERHLG | SYLLDSENTS | GALPRLPQTP |
130 | 140 | 150 | 160 | 170 | 180 |
KQPQKRSRAA | FSHTQVIELE | RKFSHQKYLS | APERAHLAKN | LKLTETQVKI | WFQNRRYKTK |
190 | 200 | 210 | 220 | 230 | |
RKQLSSELGD | LEKHSSLPAL | KEEAFSRASL | VSVYNSYPYY | PYLYCVGSWS | PAFW |