Q86W54
Gene name |
SPATA24 |
Protein name |
Spermatogenesis-associated protein 24 |
Names |
Testis protein T6441 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:202051 |
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 Q86W54
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86W54-F1 | Predicted | AlphaFoldDB |
141 variants for Q86W54
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1452461610 CA361167127 |
2 | A>V | No |
ClinGen TOPMed |
|
|
CA361167113 rs1488201240 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA3434806 rs772689742 |
6 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA128261327 rs746625944 |
7 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA361167095 rs746625944 |
7 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1038573784 CA128261322 |
8 | S>P | No |
ClinGen Ensembl |
|
|
CA3434805 rs760057919 |
9 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA361167088 rs760057919 |
9 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs939795210 CA128261317 |
10 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361167081 rs939795210 |
10 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361167077 rs1234186593 |
10 | A>V | No |
ClinGen gnomAD |
|
|
CA361167068 rs1581406126 |
12 | S>A | No |
ClinGen Ensembl |
|
|
rs774861309 CA3434804 |
13 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1339672353 CA361167055 |
14 | S>C | No |
ClinGen gnomAD |
|
|
rs1339672353 CA361167054 |
14 | S>F | No |
ClinGen gnomAD |
|
|
CA361167058 rs1397902673 |
14 | S>P | No |
ClinGen gnomAD |
|
|
rs1399381768 CA361167049 |
15 | V>G | No |
ClinGen gnomAD |
|
|
rs201105749 CA361167053 |
15 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201105749 CA3434803 |
15 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361167045 rs1171486205 |
16 | C>Y | No |
ClinGen gnomAD |
|
|
CA361167040 rs1165410700 |
17 | L>F | No |
ClinGen TOPMed |
|
|
CA361167034 rs1466176463 |
18 | A>T | No |
ClinGen gnomAD |
|
|
CA361167021 rs1473030477 |
20 | D>Y | No |
ClinGen Ensembl |
|
|
CA361167012 rs1430957586 |
21 | Q>E | No |
ClinGen gnomAD |
|
|
rs1300668060 CA361166999 |
23 | R>W | No |
ClinGen TOPMed |
|
|
CA361166989 rs1417329813 |
24 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361166977 rs1168177779 |
26 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs62385295 CA128261267 |
28 | S>F | No |
ClinGen TOPMed |
|
|
rs749492678 CA3434802 |
28 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs62385295 CA361166964 |
28 | S>Y | No |
ClinGen TOPMed |
|
|
CA128261263 rs997174973 |
29 | Q>* | No |
ClinGen TOPMed |
|
|
rs778032308 CA3434801 |
31 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489326402 CA361166940 |
32 | L>I | No |
ClinGen TOPMed |
|
|
CA361166936 rs1195895027 |
32 | L>Q | No |
ClinGen gnomAD |
|
|
rs1194524886 CA361166914 |
35 | Q>H | No |
ClinGen TOPMed |
|
|
rs1261612571 CA804607327 |
36 | L>R | No |
ClinGen TOPMed |
|
|
rs1441225530 CA361166911 |
36 | L>V | No |
ClinGen gnomAD |
|
|
CA361166905 rs1255478548 |
37 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1369409999 CA361166890 |
39 | V>L | No |
ClinGen TOPMed |
|
|
CA361166867 rs1235499008 |
41 | V>I | No |
ClinGen gnomAD |
|
|
rs1010640719 CA128260589 |
43 | Q>* | No |
ClinGen gnomAD |
|
|
CA3434794 rs758166212 CA3434795 |
44 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030628263 CA128260579 |
45 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA361166842 rs1030628263 COSM3238028 COSM3826866 |
45 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs977480595 CA128260577 |
49 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361166810 rs1216091297 |
49 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 53 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3696936 COSM3696937 CA361166781 rs1352199315 |
53 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs767134559 CA128260540 |
54 | Q>H | No |
ClinGen gnomAD |
|
|
rs192704505 CA3434793 |
55 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1561993744 CA361166762 |
56 | V>M | No |
ClinGen Ensembl |
|
|
rs1384300682 CA361166740 |
59 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770045128 CA361166682 |
62 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs770045128 CA3434783 |
62 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1280899506 CA361166647 |
65 | A>S | No |
ClinGen gnomAD |
|
|
CA361166641 rs1433916932 |
66 | A>T | No |
ClinGen gnomAD |
|
|
rs1304496375 CA361166626 |
67 | H>R | No |
ClinGen TOPMed |
|
|
CA128260312 rs867210031 |
68 | A>T | No |
ClinGen TOPMed |
|
|
CA3434781 rs541311172 |
71 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs970401726 CA128260307 |
71 | K>T | No |
ClinGen Ensembl |
|
|
rs1427037023 CA361166585 |
72 | V>I | No |
ClinGen gnomAD |
|
|
rs1321280653 CA361166568 |
74 | L>M | No |
ClinGen TOPMed |
|
|
CA128260305 rs745716164 |
75 | A>V | No |
ClinGen gnomAD |
|
|
CA128260303 rs949999953 |
78 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361166519 rs1158640429 |
79 | E>G | No |
ClinGen gnomAD |
|
|
CA3434780 rs768685286 |
79 | E>K | No |
ClinGen ExAC |
|
|
rs895760140 CA128260282 |
80 | K>N | No |
ClinGen TOPMed |
|
|
CA361166467 rs1401325072 |
84 | A>P | No |
ClinGen gnomAD |
|
|
COSM3365855 CA361166447 COSM3365856 rs1189642714 |
86 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1012454922 CA128260258 |
87 | E>K | No |
ClinGen Ensembl |
|
|
CA128260243 rs959615179 |
88 | V>I | No |
ClinGen Ensembl |
|
|
CA3434778 rs758192079 |
90 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3434777 rs758192079 |
90 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1280827784 CA361166393 |
91 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1006365526 CA128260236 |
99 | K>E | No |
ClinGen TOPMed |
|
|
CA3434776 rs369306056 |
99 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs886585824 CA128260230 |
104 | K>E | No |
ClinGen Ensembl |
|
|
rs200067820 CA361166225 |
105 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361166228 rs1283794665 |
105 | A>T | No |
ClinGen gnomAD |
|
|
rs200067820 CA3434775 |
105 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3434766 rs765454016 |
106 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361166213 rs765454016 |
106 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441404486 CA361166200 |
108 | S>R | No |
ClinGen gnomAD |
|
|
CA361166194 rs1263341226 |
109 | V>L | No |
ClinGen gnomAD |
|
|
rs1316393884 CA361166144 |
116 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 118 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361166124 rs1277998229 |
118 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs369759443 CA128260135 |
121 | D>E | No |
ClinGen gnomAD |
|
|
CA128260122 rs977851437 |
122 | Q>R | No |
ClinGen Ensembl |
|
|
rs985411152 CA128260120 |
127 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361166065 rs985411152 |
127 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361166058 rs1301666157 |
128 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA361166055 rs1214056455 |
128 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1454973919 CA361165656 |
129 | E>D | No |
ClinGen gnomAD |
|
|
CA361165652 rs1375563765 |
130 | I>F | No |
ClinGen gnomAD |
|
|
CA3434743 rs772001572 |
131 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA128257641 rs1022211411 |
131 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs956527936 CA128257632 |
133 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs745839774 CA3434742 |
138 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3434741 rs774134135 |
140 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128257627 rs774134135 |
140 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370084329 CA3434740 |
141 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361165570 rs1313479026 |
142 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128257603 rs1031482130 |
152 | Q>E | No |
ClinGen TOPMed |
|
|
rs1262714653 CA361165487 |
153 | Q>P | No |
ClinGen gnomAD |
|
|
rs138900287 CA3434737 |
154 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361165474 rs1323931413 |
155 | I>N | No |
ClinGen gnomAD |
|
|
CA361165473 rs1323931413 |
155 | I>T | No |
ClinGen gnomAD |
|
|
rs1284994655 CA361165462 |
156 | S>N | No |
ClinGen gnomAD |
|
|
rs907022219 CA128257594 |
157 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs755846563 CA3434735 |
161 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA361165109 rs1379886229 |
165 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1379886229 CA361165107 |
165 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs921441422 CA128257515 |
166 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 166 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128257509 rs1039277245 |
169 | F>C | No |
ClinGen TOPMed |
|
|
rs975907566 CA128257491 |
170 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1156798885 CA361165002 |
170 | R>W | No |
ClinGen TOPMed |
|
|
CA361164986 rs1414829340 |
171 | I>F | No |
ClinGen TOPMed |
|
|
CA361164945 rs1407826322 |
173 | K>E | No |
ClinGen gnomAD |
|
|
rs1177048619 CA361164919 |
174 | Q>* | No |
ClinGen TOPMed |
|
|
rs1409718346 CA361164905 |
174 | Q>H | No |
ClinGen gnomAD |
|
|
rs10900862 CA361164863 |
176 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754212440 CA3434728 |
179 | M>I | No |
ClinGen ExAC |
|
|
rs183526939 CA3434726 |
185 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs183526939 CA3434727 |
185 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128257468 rs928726483 |
185 | Q>R | No |
ClinGen TOPMed |
|
|
CA128257463 rs540288040 |
187 | H>R | No |
ClinGen gnomAD |
|
|
rs369824194 CA361164696 |
194 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs369824194 CA128257450 |
194 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3434724 rs767683626 |
194 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963364133 CA128257427 |
197 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1197410950 COSM3946885 CA361164671 |
197 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA361164670 rs1197410950 |
197 | R>P | No |
ClinGen gnomAD |
|
|
CA361164654 rs1561991400 |
199 | H>Y | No |
ClinGen Ensembl |
|
|
rs558345523 CA3434722 |
201 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1032033916 CA128257422 |
204 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1248450595 CA361164592 |
206 | K>L | No |
ClinGen TOPMed |
No associated diseases with Q86W54
No regional properties for Q86W54
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q86W54 | |||
6 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. |
| male germ cell nucleus | The nucleus of a male germ cell, a reproductive cell in males. |
| 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. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| identical protein binding | Binding to an identical protein or proteins. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATPLGWSKA | GSGSVCLALD | QLRDVIESQE | ELIHQLRNVM | VLQDENFVSK | EEFQAVEKKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VEEKAAHAKT | KVLLAKEEEK | LQFALGEVEV | LSKQLEKEKL | AFEKALSSVK | SKVLQESSKK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DQLITKCNEI | ESHIIKQEDI | LNGKENEIKE | LQQVISQQKQ | IFRNHMSDFR | IQKQQESYMA |
| 190 | 200 | ||||
| QVLDQKHKKA | SGTRQARSHQ | HPREK |