Q8IZ16
Gene name |
SPACDR |
Protein name |
Sperm acrosome developmental regulator |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:402573 |
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 Q8IZ16
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IZ16-F1 | Predicted | AlphaFoldDB |
164 variants for Q8IZ16
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA163258420 rs749751067 |
2 | V>A | No |
ClinGen Ensembl |
|
|
CA4382303 rs747019846 |
2 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1324411786 CA368509461 |
3 | V>A | No |
ClinGen gnomAD |
|
|
CA368509471 rs1379765982 |
3 | V>M | No |
ClinGen gnomAD |
|
|
CA4382301 rs369577590 |
7 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745459414 CA4382300 |
9 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4382299 rs778552272 |
9 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182630257 CA368509330 |
10 | W>* | No |
ClinGen gnomAD |
|
|
rs1363368898 CA368509338 |
10 | W>R | No |
ClinGen gnomAD |
|
|
rs377560034 CA4382298 |
11 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764569240 CA4382295 |
13 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4382296 rs200606904 |
13 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368509273 rs956566535 |
14 | A>P | No |
ClinGen gnomAD |
|
|
CA163258379 rs956566535 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs200926910 CA4382293 |
15 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4382292 rs767633973 |
15 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs200926910 CA4382294 |
15 | W>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA163258368 rs1032201455 |
16 | Q>R | No |
ClinGen Ensembl |
|
|
CA368509206 rs759699614 |
19 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs759699614 CA4382291 |
19 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA368509064 rs1584343433 |
22 | V>G | No |
ClinGen Ensembl |
|
|
CA163258084 rs372603779 |
22 | V>I | No |
ClinGen ESP |
|
|
CA163258070 rs780582504 |
25 | W>G | No |
ClinGen gnomAD |
|
|
rs529293605 CA163258068 |
26 | R>K | No |
ClinGen 1000Genomes |
|
|
CA368508980 rs1222674152 |
26 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4382255 rs561894415 |
28 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 33 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282357518 CA368508849 |
33 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs540737177 CA4382253 |
36 | H>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs368343826 CA4382254 |
36 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368508738 rs1456385886 |
40 | K>Q | No |
ClinGen TOPMed |
|
|
CA368508704 rs758510212 |
42 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382250 rs750555272 |
48 | E>Q | No |
ClinGen ExAC |
|
|
CA4382248 rs375079598 |
50 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4382249 rs765520754 |
50 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA163258022 rs987874061 |
53 | V>M | No |
ClinGen Ensembl |
|
|
CA368508504 rs1433724656 |
54 | V>D | No |
ClinGen TOPMed |
|
|
CA4382245 rs759464218 |
55 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA163258018 rs1030178606 |
55 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767357615 CA4382246 |
55 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163258007 rs774272096 |
58 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4382244 rs774272096 |
58 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA163258005 rs1032168870 |
60 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1161037339 CA368508449 |
60 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4382241 rs772697296 COSM1082855 |
61 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1453371760 CA368508414 |
64 | K>Q | No |
ClinGen TOPMed |
|
|
CA163257957 rs979240956 |
65 | E>G | No |
ClinGen Ensembl |
|
|
CA4382240 rs769460121 |
66 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4382239 rs747854244 |
67 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA368508367 rs1216127732 |
69 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs573227635 CA4382238 |
71 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1246045356 CA368508338 |
72 | E>* | No |
ClinGen TOPMed |
|
|
rs769213869 CA4382237 |
73 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA368508313 rs1232077425 |
74 | P>R | No |
ClinGen gnomAD |
|
|
CA4382235 rs368528299 |
75 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs750549956 CA4382232 |
78 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs750549956 CA368508281 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368508263 rs373829724 |
80 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4382231 rs778906854 |
80 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs370137741 CA4382229 CA4382227 |
81 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370137741 CA4382228 |
81 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4382225 rs368158174 |
82 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868566225 CA163257825 COSM243407 |
83 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1310548728 CA368508238 |
85 | T>A | No |
ClinGen gnomAD |
|
|
CA4382224 rs373944182 |
88 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368508217 rs1433498181 |
88 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4382223 rs575572416 |
89 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368508208 rs575572416 |
89 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368508205 rs1417789451 |
90 | E>K | No |
ClinGen gnomAD |
|
|
rs1193282884 CA368508199 |
91 | V>M | No |
ClinGen gnomAD |
|
|
rs370601799 CA4382221 |
92 | E>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1584343311 CA368508182 |
93 | L>R | No |
ClinGen Ensembl |
|
|
CA4382220 rs557226210 |
94 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376745201 CA4382219 |
95 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1212113156 CA368508162 |
96 | Q>H | No |
ClinGen gnomAD |
|
|
rs1482938735 CA368508169 |
96 | Q>K | No |
ClinGen gnomAD |
|
|
rs1256546099 CA368508164 |
96 | Q>P | No |
ClinGen gnomAD |
|
|
rs1584343289 CA368508125 |
102 | Q>H | No |
ClinGen Ensembl |
|
|
rs1277328174 CA368508114 |
104 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3662783 rs374075414 CA4382218 |
106 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1207244140 CA368508100 |
107 | A>T | No |
ClinGen TOPMed |
|
|
CA4382215 rs371314399 |
108 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163257731 rs1054619347 |
111 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4382213 rs749450569 |
113 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382212 rs749450569 |
113 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368508043 rs1478318703 |
116 | V>F | No |
ClinGen gnomAD |
|
|
CA4382209 rs201441021 |
119 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766139269 CA4382208 |
120 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1563177145 CA368508014 |
121 | S>C | No |
ClinGen Ensembl |
|
|
rs761422184 CA4382205 |
122 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA4382204 rs761422184 |
122 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1257282067 CA368507985 |
125 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368507986 rs1257282067 |
125 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368507973 rs1342423790 |
126 | C>Y | No |
ClinGen TOPMed |
|
|
rs1199063983 CA368507965 |
127 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4382182 rs752295442 |
130 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759835818 CA4382180 |
131 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767865736 CA4382181 |
131 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4382178 rs771393786 |
135 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382177 rs763497473 |
138 | S>R | No |
ClinGen ExAC |
|
|
CA368506767 rs1441464118 |
142 | R>S | No |
ClinGen gnomAD |
|
|
CA4382175 rs200188453 |
143 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199608159 CA4382174 |
143 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1269057777 CA368506754 |
144 | Q>* | No |
ClinGen gnomAD |
|
|
CA368506757 rs1269057777 |
144 | Q>K | No |
ClinGen gnomAD |
|
|
CA368506752 rs1457206275 |
144 | Q>P | No |
ClinGen TOPMed |
|
|
TCGA novel CA163253380 rs904721701 |
148 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA368506680 rs778893410 |
150 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA4382169 rs778893410 |
150 | P>Q | No |
ClinGen ExAC TOPMed |
|
|
rs753891923 CA4382167 |
151 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777350780 CA368506663 |
152 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777350780 CA4382166 |
152 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382164 rs752344902 |
160 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163253344 rs752344902 |
160 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759269118 CA4382162 |
161 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767103499 CA4382163 |
161 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM451969 CA4382160 rs201441317 |
165 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375194900 CA4382158 |
166 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763448516 CA4382159 |
166 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs556655296 CA4382157 |
167 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4382156 rs761825846 |
169 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs368741513 CA4382154 |
170 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368506422 rs1202358762 |
170 | R>H | No |
ClinGen TOPMed |
|
|
CA4382153 rs768730896 |
171 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1477288122 CA368506413 |
171 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs908269258 CA163253237 |
173 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1216048789 CA368506365 |
174 | R>C | No |
ClinGen gnomAD |
|
|
CA4382152 rs200982704 |
174 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371904128 CA4382151 |
175 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368506348 rs1277172611 |
175 | R>S | No |
ClinGen gnomAD |
|
|
CA368506336 rs1162868880 |
176 | Q>R | No |
ClinGen TOPMed |
|
|
CA4382149 rs770853529 |
180 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA368506265 rs749177909 |
181 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382147 rs755606051 |
181 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382146 rs755606051 |
181 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382148 rs749177909 |
181 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306207807 CA368506230 |
183 | H>Y | No |
ClinGen TOPMed |
|
|
rs754571274 CA4382143 |
184 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382141 rs535561832 |
185 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs535561832 CA163253200 |
185 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4382140 rs758779280 |
185 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382139 rs778401953 |
187 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368506135 rs1168278211 |
189 | A>V | No |
ClinGen gnomAD |
|
|
rs762423745 CA4382138 |
191 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762423745 CA4382137 |
191 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382136 rs776552865 |
191 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA4382134 rs764293732 |
192 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764293732 CA368506104 |
192 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382133 rs760740032 |
193 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775867552 CA4382132 |
194 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775867552 CA368506069 |
194 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA368506072 rs1187549038 |
194 | P>S | No |
ClinGen gnomAD |
|
|
CA4382130 rs568044482 |
195 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368506030 rs773176935 |
197 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382129 rs773176935 |
197 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368505970 rs1377141658 |
202 | A>T | No |
ClinGen gnomAD |
|
|
rs1448763401 CA368505920 |
205 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4382126 rs780561496 |
206 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4382125 rs754523352 |
207 | L>K | No |
ClinGen ExAC gnomAD |
|
|
rs1445829033 CA576712997 |
207 | L>W | No |
ClinGen gnomAD |
|
|
rs1395591321 CA368505889 |
207 | L>Y | No |
ClinGen gnomAD |
1 associated diseases with Q8IZ16
Without disease ID
No regional properties for Q8IZ16
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8IZ16 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| 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 |
|---|---|
| spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVVVMKFFRW | VRRAWQRIIS | WVFFWRQKIK | PTISGHPDSK | KHSLKKMEKT | LQVVETLRLV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELPKEAKPKL | GESPELADPC | VLAKTTEETE | VELGQQGQSL | LQLPRTAVKS | VSTLMVSALQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGWQMCSWKS | SVSSASVSSQ | VRTQSPLKTP | EAELLWEVYL | VLWAVRKHLR | RLYRRQERHR |
| 190 | 200 | ||||
| RHHVRCHAAP | RPNPAQSLKL | DAQSPL |