RPL3L
entrez
6123
canonical
uniprot
Q92901
canonical
ensembl
ENSG00000140986
resolver
ensembl
ENSG00000291929
resolver
ensp
ENSP00000268661
resolver
ensp
ENSP00000517569
resolver
ensp
ENSP00000572317
resolver
enst
ENST00000268661
resolver
enst
ENST00000709230
resolver
genesymbol
RPL3L
resolver
hgnc
HGNC:10351
resolver
uniprot_entry
RL3L_HUMAN
resolver
amino_acid_sequence
MSHRKFSAPRHGHLGFLPHKRSHRHRGKVKTWPRDDPSQPVHLTAFLGYKAGMTHTLREVHRPGLKISKREEVEAVTIVETPPLVVVGVVGYVATPRGLRSFKTIFAEHLSDECRRRFYKDWHKSKKKAFTKACKRWRDTDGKKQLQKDFAAMKKYCKVIRVIVHTQMKLLPFRQKKAHIMEIQLNGGTVAEKVAWAQARLEKQVPVHSVFSQSEVIDVIAVTKGRGVKGVTSRWHTKKLPRKTHKGLRKVACIGAWHPARVGCSIARAGQKGYHHRTELNKKIFRIGRGPHMEDGKLVKNNASTSYDVTAKSITPLGGFPHYGEVNNDFVMLKGCIAGTKKRVITLRKSLLVHHSRQAVENIELKFIDTTSKFGHGRFQTAQEKRAFMGPQKKHLEKETPETSGDL
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 2D (CMD2D) [MIM:619371]: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset. {ECO:0000269|PubMed:32514796, ECO:0000269|PubMed:32870709, ECO:0000269|PubMed:35323613, ECO:0000269|PubMed:36291431}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Heart- and skeletal muscle-specific component of the ribosome, which regulates muscle function. Component of the large ribosomal subunit in striated muscle cells: replaces the RPL3 paralog in the ribosome in these cells. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Inhibits myotube growth and muscle function. {ECO:0000250|UniProtKB:E9PWZ3}.
uniprot
proteins
mass_dalton
46296
uniprot
proteins
protein_family
Universal ribosomal protein uL3 family
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
32514796
uniprot
proteins
pubmed
32870709
uniprot
proteins
pubmed
35323613
uniprot
proteins
pubmed
36291431
uniprot
proteins
pubmed
8921388
uniprot
proteins
sequence_length
407
uniprot
proteins