MBNL1
entrez
4154
canonical
uniprot
Q9NR56
canonical
ensembl
ENSG00000152601
resolver
ensp
ENSP00000282486
resolver
ensp
ENSP00000282488
resolver
ensp
ENSP00000319374
resolver
ensp
ENSP00000319429
resolver
ensp
ENSP00000347637
resolver
ensp
ENSP00000350064
resolver
ensp
ENSP00000418109
resolver
ensp
ENSP00000418427
resolver
ensp
ENSP00000418508
resolver
ensp
ENSP00000419347
resolver
ensp
ENSP00000420327
resolver
ensp
ENSP00000437491
resolver
ensp
ENSP00000538301
resolver
ensp
ENSP00000538302
resolver
ensp
ENSP00000538303
resolver
ensp
ENSP00000538304
resolver
ensp
ENSP00000538306
resolver
ensp
ENSP00000538309
resolver
ensp
ENSP00000538310
resolver
ensp
ENSP00000581813
resolver
ensp
ENSP00000581814
resolver
ensp
ENSP00000640118
resolver
ensp
ENSP00000640121
resolver
ensp
ENSP00000640125
resolver
ensp
ENSP00000640126
resolver
ensp
ENSP00000705503
resolver
ensp
ENSP00000705506
resolver
ensp
ENSP00000798912
resolver
enst
ENST00000282488
resolver
enst
ENST00000493459
resolver
enst
ENST00000498502
resolver
enst
ENST00000868245
resolver
enst
ENST00000911755
resolver
genesymbol
MBNL1
resolver
genesymbol_syn
EXP
resolver
genesymbol_syn
KIAA0428
resolver
genesymbol_syn
MBNL
resolver
hgnc
HGNC:6923
resolver
uniprot
A0A0A0MQX8
resolver
uniprot
C9JP00
resolver
uniprot
E9PBW7
resolver
uniprot
F6WNK3
resolver
uniprot
O43311
resolver
uniprot
O43797
resolver
uniprot
Q86UV8
resolver
uniprot
Q86UV9
resolver
uniprot
Q86VM6
resolver
uniprot
Q96P92
resolver
uniprot
Q96RE3
resolver
uniprot_entry
A0A0A0MQX8_HUMAN
resolver
uniprot_entry
C9JP00_HUMAN
resolver
uniprot_entry
F6WNK3_HUMAN
resolver
uniprot_entry
MBNL1_HUMAN
resolver
uniprot_entry
Q86VM6_HUMAN
resolver
uniprot_sec
E9PBW7
resolver
uniprot_sec
O43311
resolver
uniprot_sec
O43797
resolver
uniprot_sec
Q86UV8
resolver
uniprot_sec
Q86UV9
resolver
uniprot_sec
Q96P92
resolver
uniprot_sec
Q96RE3
resolver
amino_acid_sequence
MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLVTGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTVTVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMTQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM
uniprot
proteins
disease_involvement
DISEASE: Dystrophia myotonica 1 (DM1) [MIM:160900]: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. {ECO:0000269|PubMed:11929853, ECO:0000269|PubMed:27222292}. Note=The protein represented in this entry may be involved in disease pathogenesis. In muscle cells from patients, MBNL1 is sequestered by DMPK RNAs containing pathogenic CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.; DISEASE: Corneal dystrophy, Fuchs endothelial, 3 (FECD3) [MIM:613267]: A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269|PubMed:25593321}. Note=The protein represented in this entry is involved in disease pathogenesis. In corneal endothelial cells from patients, MBNL1 is sequestered by TCF4 RNAs containing pathogenic CUG triplet repeat expansions. This results in missplicing of essential MBNL1-regulated mRNAs. {ECO:0000269|PubMed:25593321}.
uniprot
proteins
function
FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events (PubMed:37548402). Regulates NCOR2 alternative splicing (By similarity). {ECO:0000250|UniProtKB:A0A8I6B1J2, ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:18335541, ECO:0000269|PubMed:19470458, ECO:0000269|PubMed:37548402}.
uniprot
proteins
mass_dalton
41817
uniprot
proteins
protein_family
Muscleblind family
uniprot
proteins
pubmed
10970838
uniprot
proteins
pubmed
11590133
uniprot
proteins
pubmed
11929853
uniprot
proteins
pubmed
15257297
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16946708
uniprot
proteins
pubmed
18335541
uniprot
proteins
pubmed
19043415
uniprot
proteins
pubmed
19470458
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25593321
uniprot
proteins
pubmed
27222292
uniprot
proteins
pubmed
37548402
uniprot
proteins
pubmed
9455477
uniprot
proteins
sequence_length
388
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:11590133, ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:18335541}. Cytoplasmic granule {ECO:0000269|PubMed:18335541}. Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853).
uniprot
proteins