MCTS1
entrez
28985
canonical
uniprot
Q9ULC4
canonical
ensembl
ENSG00000232119
resolver
ensp
ENSP00000360365
resolver
ensp
ENSP00000360367
resolver
genesymbol
MCTS1
resolver
genesymbol_syn
MCT1
resolver
hgnc
HGNC:23357
resolver
uniprot
B4DGY2
resolver
uniprot
Q502X6
resolver
uniprot_entry
MCTS1_HUMAN
resolver
uniprot_sec
B4DGY2
resolver
uniprot_sec
Q502X6
resolver
amino_acid_sequence
MFKKFDEKENVSNCIQLKTSVIKGIKNQLIEQFPGIEPWLNQIMPKKDPVKIVRCHEHIEILTVNGELLFFRQREGPFYPTLRLLHKYPFILPHQQVDKGAIKFVLSGANIMCPGLTSPGAKLYPAAVDTIVAIMAEGKQHALCVGVMKMSAEDIEKVNKGIGIENIHYLNDGLWHMKTYK
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 118 (IMD118) [MIM:301115]: An X-linked recessive disorder characterized by increased susceptibility to disseminated mycobacterial infections in infancy, notably after Bacillus Calmette-Guerin (BCG) vaccination. Initial clinical features include fever, lymphadenopathy, hepatosplenomegaly, abscesses, and osteomyelitis. Affected males usually recover with treatment, have no other infections, and show normal growth and development. {ECO:0000269|PubMed:37875108}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Translation regulator forming a complex with DENR to promote translation reinitiation. Translation reinitiation is the process where the small ribosomal subunit remains attached to the mRNA following termination of translation of a regulatory upstream ORF (uORF), and resume scanning on the same mRNA molecule to initiate translation of a downstream ORF, usually the main ORF (mORF). The MCTS1/DENR complex is pivotal to two linked mechanisms essential for translation reinitiation. Firstly, the dissociation of deacylated tRNAs from post-termination 40S ribosomal complexes during ribosome recycling. Secondly, the recruitment in an EIF2-independent manner of aminoacylated initiator tRNA to P site of 40S ribosomes for a new round of translation (PubMed:16982740, PubMed:20713520, PubMed:37875108). This regulatory mechanism governs the translation of more than 150 genes which translation reinitiation is MCTS1/DENR complex-dependent (PubMed:16982740, PubMed:20713520, PubMed:37875108). Consequently, modulates various unrelated biological processes including cell cycle regulation and DNA damage signaling and repair (PubMed:10440924, PubMed:11709712, PubMed:12637315, PubMed:15897892, PubMed:16322206, PubMed:17016429, PubMed:17416211, PubMed:9766643). Notably, it positively regulates interferon gamma immunity to mycobacteria by enhancing the translation of JAK2 (PubMed:37875108). {ECO:0000269|PubMed:10440924, ECO:0000269|PubMed:11709712, ECO:0000269|PubMed:12637315, ECO:0000269|PubMed:15897892, ECO:0000269|PubMed:16322206, ECO:0000269|PubMed:16982740, ECO:0000269|PubMed:17016429, ECO:0000269|PubMed:17416211, ECO:0000269|PubMed:20713520, ECO:0000269|PubMed:37875108, ECO:0000269|PubMed:9766643}.
uniprot
proteins
mass_dalton
20555
uniprot
proteins
mutagenesis
MUTAGEN 81; /note="T->A: No phosphorylation by MAPK1; decreased stability of MCTS1 protein; Significant cell growth reduction."; /evidence="ECO:0000269|PubMed:17016429"; MUTAGEN 118; /note="S->A: No phosphorylation by CDK1; No cell growth alteration."; /evidence="ECO:0000269|PubMed:17016429
uniprot
proteins
post_translational_modification
PTM: Phosphorylation is critical for stabilization and promotion of cell proliferation. {ECO:0000269|PubMed:17016429}.
uniprot
proteins
protein_family
MCTS1 family
uniprot
proteins
pubmed
10440924
uniprot
proteins
pubmed
11709712
uniprot
proteins
pubmed
12637315
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15897892
uniprot
proteins
pubmed
16322206
uniprot
proteins
pubmed
16533400
uniprot
proteins
pubmed
16982740
uniprot
proteins
pubmed
17016429
uniprot
proteins
pubmed
17416211
uniprot
proteins
pubmed
20713520
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
37875108
uniprot
proteins
pubmed
9766643
uniprot
proteins
sequence_length
181
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11709712, ECO:0000269|PubMed:16982740}. Note=Nuclear relocalization after DNA damage.
uniprot
proteins