MYL3
entrez
4634
canonical
uniprot
P08590
canonical
ensembl
ENSG00000160808
resolver
ensp
ENSP00000292327
resolver
ensp
ENSP00000379210
resolver
ensp
ENSP00000393455
resolver
ensp
ENSP00000499406
resolver
ensp
ENSP00000499577
resolver
ensp
ENSP00000499624
resolver
ensp
ENSP00000519229
resolver
ensp
ENSP00000519230
resolver
ensp
ENSP00000547178
resolver
ensp
ENSP00000547179
resolver
ensp
ENSP00000547180
resolver
ensp
ENSP00000547181
resolver
ensp
ENSP00000547182
resolver
ensp
ENSP00000547183
resolver
ensp
ENSP00000547184
resolver
ensp
ENSP00000547185
resolver
ensp
ENSP00000547186
resolver
ensp
ENSP00000547187
resolver
ensp
ENSP00000547188
resolver
ensp
ENSP00000547189
resolver
ensp
ENSP00000547190
resolver
ensp
ENSP00000547191
resolver
ensp
ENSP00000547192
resolver
ensp
ENSP00000547193
resolver
ensp
ENSP00000627887
resolver
ensp
ENSP00000627888
resolver
ensp
ENSP00000627889
resolver
ensp
ENSP00000627891
resolver
ensp
ENSP00000627892
resolver
ensp
ENSP00000627893
resolver
ensp
ENSP00000627894
resolver
ensp
ENSP00000627895
resolver
ensp
ENSP00000627896
resolver
ensp
ENSP00000627897
resolver
ensp
ENSP00000627898
resolver
ensp
ENSP00000627899
resolver
enst
ENST00000292327
resolver
enst
ENST00000395869
resolver
enst
ENST00000431168
resolver
enst
ENST00000653454
resolver
enst
ENST00000654597
resolver
enst
ENST00000662933
resolver
enst
ENST00000713932
resolver
enst
ENST00000713933
resolver
enst
ENST00000877119
resolver
enst
ENST00000877120
resolver
enst
ENST00000877121
resolver
enst
ENST00000877122
resolver
enst
ENST00000877123
resolver
enst
ENST00000877124
resolver
enst
ENST00000877125
resolver
enst
ENST00000877126
resolver
enst
ENST00000877127
resolver
enst
ENST00000877128
resolver
enst
ENST00000877129
resolver
enst
ENST00000877130
resolver
enst
ENST00000877131
resolver
enst
ENST00000877132
resolver
enst
ENST00000877133
resolver
enst
ENST00000877134
resolver
enst
ENST00000957828
resolver
enst
ENST00000957829
resolver
enst
ENST00000957830
resolver
enst
ENST00000957832
resolver
enst
ENST00000957833
resolver
enst
ENST00000957834
resolver
enst
ENST00000957835
resolver
enst
ENST00000957836
resolver
enst
ENST00000957837
resolver
enst
ENST00000957838
resolver
enst
ENST00000957839
resolver
enst
ENST00000957840
resolver
genesymbol
MYL3
resolver
hgnc
HGNC:7584
resolver
uniprot
B2R534
resolver
uniprot
Q9NRS8
resolver
uniprot_entry
MYL3_HUMAN
resolver
uniprot_sec
B2R534
resolver
uniprot_sec
Q9NRS8
resolver
amino_acid_sequence
MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFMLFDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQHISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGERLTEDEVEKLMAGQEDSNGCINYEAFVKHIMSS
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. {ECO:0000269|PubMed:12021217, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:23594557, ECO:0000269|PubMed:8673105}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory light chain of myosin. Does not bind calcium.
uniprot
proteins
mass_dalton
21932
uniprot
proteins
post_translational_modification
PTM: The N-terminus is blocked.; PTM: N-terminus is methylated by METTL11A/NTM1. {ECO:0000250}.
uniprot
proteins
pubmed
12021217
uniprot
proteins
pubmed
12707239
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23594557
uniprot
proteins
pubmed
2789520
uniprot
proteins
pubmed
3357795
uniprot
proteins
pubmed
3417683
uniprot
proteins
pubmed
3979397
uniprot
proteins
pubmed
7498159
uniprot
proteins
pubmed
8673105
uniprot
proteins
sequence_length
195
uniprot
proteins