Q9BUA6
PR
Gene name |
MYL10 (MYLC2PL, PLRLC) |
Protein name |
Myosin regulatory light chain 10 |
Names |
Myosin light chain 2, lymphocyte-specific, Precursor lymphocyte-specific regulatory light chain |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:93408 |
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 Q9BUA6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BUA6-F1 | Predicted | AlphaFoldDB |
157 variants for Q9BUA6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs904566103 CA163769921 |
3 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1430044566 CA368895510 |
4 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368895508 rs1430044566 |
4 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1178743473 CA368895505 |
5 | L>M | No |
ClinGen gnomAD |
|
|
rs1378171979 CA368895497 |
6 | V>A | No |
ClinGen TOPMed |
|
|
CA4410252 rs769501152 |
6 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769501152 CA368895500 |
6 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4410251 rs747816910 |
7 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1584544118 CA368895494 |
7 | S>P | No |
ClinGen Ensembl |
|
|
CA163769920 rs985770619 |
10 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1426150340 CA368895465 |
11 | P>H | No |
ClinGen gnomAD |
|
|
CA368895460 rs1280038382 |
12 | Q>* | No |
ClinGen TOPMed |
|
|
CA368895454 rs1318472803 |
13 | V>M | No |
ClinGen TOPMed |
|
|
CA163769919 rs554216162 |
14 | I>M | No |
ClinGen 1000Genomes |
|
|
rs1235613524 CA368895440 |
15 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA368895431 rs1272365206 |
16 | P>L | No |
ClinGen TOPMed |
|
|
CA368895425 rs1209370198 |
17 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA163769918 rs1043034821 |
18 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4410250 rs776204129 |
18 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1216318737 CA368895405 |
21 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368895406 rs1216318737 |
21 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs113556810 COSM3431007 CA4410249 |
24 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA368895371 rs1215475185 |
26 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs150960189 | 39 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12216595 VAR_039401 |
46 | M>T | No |
UniProt dbSNP |
|
|
CA4410198 rs376791703 |
47 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464073063 CA368894913 |
48 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs563466610 CA4410196 |
53 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4410194 rs752446092 |
57 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1184788588 | 67 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 73 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754585368 CA4410153 |
92 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936718687 CA163769230 |
94 | T>A | No |
ClinGen TOPMed |
|
|
rs148461579 CA368894190 |
95 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148461579 CA4410152 |
95 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4410150 rs772514062 |
96 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs750325328 CA4410149 COSM3949662 |
97 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1439056365 CA368894142 |
99 | N>S | No |
ClinGen gnomAD |
|
|
rs765168243 CA4410148 |
100 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375413226 CA4410147 |
101 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760782928 CA4410144 |
103 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4410145 rs760782928 |
103 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368894086 rs1430253190 |
104 | I>S | No |
ClinGen gnomAD |
|
|
rs1430253190 CA368894089 |
104 | I>T | No |
ClinGen gnomAD |
|
|
CA4410143 rs775803065 |
104 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163769229 rs373940709 |
105 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1083437 rs373940709 CA4410141 |
105 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774941006 CA4410140 |
107 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368894033 rs1260694575 |
108 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1448716316 CA368894043 |
108 | D>Y | No |
ClinGen gnomAD |
|
|
CA368894004 rs1195364900 |
111 | D>N | No |
ClinGen gnomAD |
|
|
rs144539367 CA4410137 |
112 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4410138 COSM598076 rs144539367 |
112 | T>N | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4410136 rs144539367 |
112 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368893990 rs1323714136 |
112 | T>S | No |
ClinGen gnomAD |
|
|
CA163769228 rs1022040453 |
113 | F>V | No |
ClinGen TOPMed |
|
|
rs746597002 CA4410135 |
114 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221241645 CA368893973 |
114 | A>T | No |
ClinGen gnomAD |
|
|
CA368893968 rs746597002 |
114 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540771154 CA4410130 |
115 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369962362 CA4410132 |
115 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369962362 CA4410133 |
115 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs540771154 CA4410131 |
115 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329676462 CA368893944 |
117 | G>R | No |
ClinGen TOPMed |
|
|
CA4410097 rs769055034 |
118 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769055034 CA4410098 |
118 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190627757 CA4410096 |
118 | R>H | Variant assessed as Somatic; 0.001159 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4410094 rs770278298 |
120 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA163769135 rs922196184 |
121 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs748844287 TCGA novel COSM174855 CA4410093 |
122 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC gnomAD NCI-TCGA |
|
CA163769134 rs1040535372 |
123 | N>H | No |
ClinGen gnomAD |
|
|
rs140607004 CA368893557 |
123 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368893555 rs1363446296 |
124 | E>K | No |
ClinGen gnomAD |
|
|
CA368893541 rs1162747476 |
125 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs756074750 CA4410091 |
127 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4410088 rs147467886 |
129 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4410089 rs147467886 |
129 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4410087 rs370361769 |
131 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163769132 rs866882924 |
132 | E>K | No |
ClinGen Ensembl |
|
|
rs1269277673 CA368893492 |
133 | A>D | No |
ClinGen TOPMed |
|
|
rs377349397 CA4410085 |
135 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4410084 rs776182712 |
136 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368893470 rs1380960355 |
137 | I>N | No |
ClinGen TOPMed |
|
|
CA368893465 rs1357592925 |
138 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4410082 rs762356187 |
139 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA163769129 rs979067610 |
140 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762939514 CA163769130 |
140 | T>P | No |
ClinGen Ensembl |
|
|
CA4410080 rs764399042 |
142 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368893438 rs1343933216 |
142 | F>S | No |
ClinGen gnomAD |
|
|
CA368893419 rs1405332444 |
145 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4410078 rs773933258 |
146 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773933258 CA368893411 |
146 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770603802 CA4410077 |
147 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4410076 rs138676106 |
151 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368893378 rs1160823183 |
151 | K>T | No |
ClinGen gnomAD |
|
|
CA4410051 rs201660825 |
153 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201660825 CA4410052 |
153 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4410048 rs746059992 |
155 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA368892706 rs1381357734 |
157 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336870613 CA368892693 COSM1719585 |
158 | T>I | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4410046 rs757267402 |
159 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4410045 rs749354639 |
160 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368892667 rs1333917797 |
161 | H>Y | No |
ClinGen TOPMed |
|
|
COSM3083183 CA4410043 rs756582817 |
162 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1083436 CA368892638 rs1271236211 |
163 | F>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs372517822 CA4410042 |
165 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372517822 CA163768411 |
165 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4410039 rs548990601 |
167 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4410038 rs548990601 |
167 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764998096 CA4410037 |
168 | T>I | No |
ClinGen ExAC |
|
|
rs1444278592 CA368892542 |
172 | G>S | No |
ClinGen gnomAD |
|
|
rs761619758 CA4410036 |
173 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4410034 rs150224436 |
174 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4410035 rs150224436 |
174 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368892509 rs1342642757 |
175 | K>E | No |
ClinGen gnomAD |
|
|
rs201884702 CA4410033 |
176 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201884702 CA4410032 |
176 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1485843295 CA368892483 |
177 | D>G | No |
ClinGen Ensembl |
|
|
rs79690321 CA4410030 |
177 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774258208 CA4410029 |
178 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1407609886 CA368892256 |
179 | I>F | No |
ClinGen gnomAD |
|
|
rs769041899 CA4410004 |
182 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1196943391 CA368892159 |
187 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4410003 RCV000845056 rs141873317 |
189 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758861574 CA4410001 |
189 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4410002 rs141873317 |
189 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1445271198 CA368892104 |
192 | E>G | No |
ClinGen gnomAD |
|
|
rs1445271198 CA368892103 |
192 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368892044 rs1188591376 |
195 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA163768085 rs952474191 |
198 | M>V | No |
ClinGen TOPMed |
|
|
rs747412574 CA4409984 |
200 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2152446 CA368891976 rs1444281088 |
200 | A>V | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA368891967 rs1202610517 |
201 | A>V | No |
ClinGen gnomAD |
|
|
rs772519974 CA4409982 |
204 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1221297551 CA368891917 |
205 | D>G | No |
ClinGen gnomAD |
|
|
rs1360419278 CA368891908 |
206 | V>L | No |
ClinGen gnomAD |
|
|
CA368891905 rs1360419278 |
206 | V>M | No |
ClinGen gnomAD |
|
|
rs558876493 CA4409980 |
208 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368891821 rs961263806 |
211 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA163768084 rs961263806 |
211 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752453176 CA4409978 |
217 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 218 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754521127 CA4409975 |
218 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA163768083 rs1013529491 |
220 | T>I | No |
ClinGen TOPMed |
|
|
rs1389432884 CA368891655 |
220 | T>S | No |
ClinGen gnomAD |
|
|
rs1207955257 CA368891638 |
221 | H>Y | No |
ClinGen gnomAD |
|
|
CA368891610 rs762924671 |
222 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762924671 CA4409972 |
222 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4409973 rs766324773 |
222 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4409970 rs147592822 |
224 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 225 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761923992 CA4409969 |
226 | D>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BUA6
3 regional properties for Q9BUA6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | EF-hand domain | 84 - 133 | IPR002048-1 |
| domain | EF-hand domain | 154 - 189 | IPR002048-2 |
| binding_site | EF-Hand 1, calcium-binding site | 97 - 109 | IPR018247 |
3 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. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9E2 | MYL9 | Myosin regulatory light polypeptide 9 | Bos taurus (Bovine) | PR |
| O14950 | MYL12B | Myosin regulatory light chain 12B | Homo sapiens (Human) | PR |
| P19105 | MYL12A | Myosin regulatory light chain 12A | Homo sapiens (Human) | PR |
| P51667 | Myl2 | Myosin regulatory light chain 2, ventricular/cardiac muscle isoform | Mus musculus (Mouse) | PR |
| P97457 | Myl11 | Myosin regulatory light chain 11 | Mus musculus (Mouse) | PR |
| Q3THE2 | Myl12b | Myosin regulatory light chain 12B | Mus musculus (Mouse) | PR |
| Q62082 | Myl10 | Myosin regulatory light chain 10 | Mus musculus (Mouse) | PR |
| P13832 | Rlc-a | Myosin regulatory light chain RLC-A | Rattus norvegicus (Rat) | PR |
| P18666 | Myl12b | Myosin regulatory light chain 12B | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLRLVSNSW | PQVILPPRPP | KVLGLQAPRR | ARKRAEGTAS | SNVFSMFDQS | QIQEFKESLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSPRLERNGM | ISAHCNLCLT | GSSNSPASAS | QAFTIMDQNR | DGFIDKEDLR | DTFAALGRIN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKNEELEAMV | KEAPGPINFT | VFLTMFGEKL | KGTDPEETIL | HAFKVFDTEG | KGFVKADVIK |
| 190 | 200 | 210 | 220 | ||
| EKLMTQADRF | SEEEVKQMFA | AFPPDVCGNL | DYRNLCYVIT | HGEEKD |