P19105
PR
Gene name |
MYL12A (MLCB, MRLC3, RLC) |
Protein name |
Myosin regulatory light chain 12A |
Names |
Epididymis secretory protein Li 24, HEL-S-24, MLC-2B, Myosin RLC, Myosin regulatory light chain 2, nonsarcomeric, Myosin regulatory light chain MRLC3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10627 |
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 P19105
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P19105-F1 | Predicted | AlphaFoldDB |
103 variants for P19105
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1348224743 CA401727784 |
1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761526512 CA401727792 |
2 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761526512 CA8875422 |
2 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761526512 CA8875423 |
2 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169991517 CA401727799 |
3 | S>R | No |
ClinGen TOPMed |
|
|
rs1372282893 CA401727804 |
4 | K>T | No |
ClinGen gnomAD |
|
|
rs1407821871 CA401727830 |
8 | T>A | No |
ClinGen gnomAD |
|
|
rs200472662 CA295656395 |
9 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1427227249 CA401727862 |
12 | K>M | No |
ClinGen TOPMed |
|
|
CA295656396 rs764366847 |
13 | R>C | No |
ClinGen Ensembl |
|
|
CA8875426 rs377664383 |
13 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753812084 CA8875427 |
15 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1232315066 CA401727879 |
15 | Q>R | No |
ClinGen gnomAD |
|
|
rs199590891 CA8875428 COSM988102 |
16 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs779497317 CA8875429 |
16 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs748662254 CA8875430 |
23 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA401727953 rs1180551091 |
26 | D>A | No |
ClinGen gnomAD |
|
|
rs11539728 CA8875432 |
27 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA401727965 rs1473010732 |
28 | S>P | No |
ClinGen gnomAD |
|
|
CA401727987 rs1192299528 |
31 | Q>E | No |
ClinGen TOPMed |
|
|
CA401727991 rs1489633567 |
31 | Q>R | No |
ClinGen TOPMed |
|
|
CA295656400 rs754078992 |
36 | A>G | No |
ClinGen Ensembl |
|
|
CA8875435 rs201555784 |
36 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8875436 rs775083461 |
39 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA295656401 rs11539726 |
39 | M>V | No |
ClinGen gnomAD |
|
|
rs1427576709 CA401728065 |
41 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401728070 rs1598797904 |
42 | Q>* | No |
ClinGen Ensembl |
|
|
rs748734702 CA8875437 |
42 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA295656402 rs11539724 |
44 | R>G | No |
ClinGen Ensembl |
|
|
rs774337203 CA8875439 |
49 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401728119 rs1567984272 |
49 | D>N | No |
ClinGen Ensembl |
|
|
rs1282089995 CA401728130 |
50 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 52 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761724527 CA8875440 |
52 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767393323 CA8875441 |
54 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1277134358 CA401728176 |
56 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs760987492 CA8875443 |
56 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11539725 CA295656404 |
57 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 59 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200068920 CA295656405 |
59 | S>P | No |
ClinGen 1000Genomes |
|
|
rs765451347 CA8875468 |
62 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA401728223 rs1427020686 |
62 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401728226 rs1269422996 |
63 | N>H | No |
ClinGen TOPMed |
|
|
CA8875470 rs763543178 |
65 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8875471 rs764447118 |
67 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1001394576 CA295656454 |
67 | E>G | No |
ClinGen Ensembl |
|
|
CA401728280 rs1366647001 |
71 | A>T | No |
ClinGen gnomAD |
|
|
rs11539722 CA295656455 |
72 | M>T | No |
ClinGen gnomAD |
|
|
CA295656456 rs959687682 |
78 | G>C | No |
ClinGen Ensembl |
|
|
CA401728340 rs1290362459 |
79 | P>H | No |
ClinGen TOPMed |
|
|
CA8875477 rs754593100 |
84 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA401728399 rs1389382987 |
87 | T>I | No |
ClinGen gnomAD |
|
|
rs1196674776 CA401728405 |
88 | M>I | No |
ClinGen gnomAD |
|
|
CA295656459 rs550586109 |
88 | M>L | No |
ClinGen 1000Genomes |
|
|
rs778425584 CA8875478 |
88 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA401728419 rs1227426072 |
90 | G>A | No |
ClinGen TOPMed |
|
|
rs747608225 CA8875479 |
92 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374446971 CA295656461 |
98 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1024955665 CA295656462 |
101 | V>I | No |
ClinGen Ensembl |
|
|
rs1159335961 CA401728539 |
107 | A>V | No |
ClinGen gnomAD |
|
|
CA8875482 rs777640134 |
108 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746954283 CA8875483 |
110 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs770682994 CA8875484 |
114 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1483925945 CA401728641 |
120 | D>E | No |
ClinGen gnomAD |
|
|
rs749516315 CA8875507 |
122 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA401728688 rs1405243722 |
128 | T>A | No |
ClinGen TOPMed |
|
|
rs554667547 CA295656611 |
129 | M>I | No |
ClinGen 1000Genomes |
|
|
rs1486038508 CA401728694 |
129 | M>V | No |
ClinGen Ensembl |
|
|
rs1369076225 CA401728711 |
131 | D>G | No |
ClinGen TOPMed |
|
|
CA8875512 rs200192403 |
132 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401728716 rs1168541529 |
132 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8875514 rs761095005 |
136 | E>V | No |
ClinGen ExAC |
|
|
CA401728748 rs1308834737 |
137 | E>K | No |
ClinGen gnomAD |
|
|
rs1314870961 CA401728762 |
139 | D>N | No |
ClinGen gnomAD |
|
|
CA401728787 rs1341147477 |
142 | Y>C | No |
ClinGen gnomAD |
|
|
rs981351230 CA295656612 |
145 | A>T | No |
ClinGen Ensembl |
|
|
rs140368397 CA8875517 |
146 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1343997693 CA401728819 |
147 | I>T | No |
ClinGen gnomAD |
|
|
CA295656613 rs944132883 |
147 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401728832 rs1598799839 |
149 | K>E | No |
ClinGen Ensembl |
|
|
CA295656614 rs892002190 |
149 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1265573081 CA401728839 |
150 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367687218 CA8875519 |
153 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401728865 rs1201822283 |
153 | F>L | No |
ClinGen gnomAD |
|
|
CA401728863 rs367687218 |
153 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757270026 CA8875520 |
154 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909967852 CA295656615 |
156 | I>F | No |
ClinGen gnomAD |
|
|
rs909967852 CA401728882 |
156 | I>V | No |
ClinGen gnomAD |
|
|
rs745799600 CA8875522 |
157 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756034833 CA8875523 |
159 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA295656616 rs766717834 |
160 | R>C | No |
ClinGen Ensembl |
|
|
CA295656617 COSM2811017 rs975842087 |
160 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA295656618 rs904790914 |
161 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1304843873 CA401728934 |
164 | H>R | No |
ClinGen gnomAD |
|
|
CA401728944 rs1434513454 |
166 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1598799935 CA401728981 |
170 | D>E | No |
ClinGen Ensembl |
|
|
CA401728988 rs1367339647 |
171 | D>E | No |
ClinGen gnomAD |
|
|
CA8875526 rs749515029 |
171 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs768885760 CA8875527 |
172 | D>G | No |
ClinGen ExAC |
No associated diseases with P19105
4 regional properties for P19105
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | EF-hand domain | 28 - 76 | IPR002048-1 |
| domain | EF-hand domain | 97 - 132 | IPR002048-2 |
| domain | DJBP, EF-hand domain | 101 - 159 | IPR015070 |
| binding_site | EF-Hand 1, calcium-binding site | 41 - 53 | IPR018247 |
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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| glutamate receptor binding | Binding to a glutamate receptor. |
| myosin heavy chain binding | Binding to a heavy chain of a myosin complex. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
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 |
| Q9BUA6 | MYL10 | Myosin regulatory light chain 10 | Homo sapiens (Human) | PR |
| Q62082 | Myl10 | Myosin regulatory light chain 10 | Mus musculus (Mouse) | 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 |
| P18666 | Myl12b | Myosin regulatory light chain 12B | Rattus norvegicus (Rat) | PR |
| P13832 | Rlc-a | Myosin regulatory light chain RLC-A | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSKRTKTKT | KKRPQRATSN | VFAMFDQSQI | QEFKEAFNMI | DQNRDGFIDK | EDLHDMLASL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKNPTDEYLD | AMMNEAPGPI | NFTMFLTMFG | EKLNGTDPED | VIRNAFACFD | EEATGTIQED |
| 130 | 140 | 150 | 160 | 170 | |
| YLRELLTTMG | DRFTDEEVDE | LYREAPIDKK | GNFNYIEFTR | ILKHGAKDKD | D |