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Q9NR56 of Proteins C3H1-type domain repeats
Uniprot ID:Q9NR56
Protein name: Muscleblind-like protein 1
Gene : MBNL1 EXP KIAA0428 MBNL
Protein Family:Muscleblind family
Squence Length : 388
Sequnce
>Q9NR56 389 MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLVTGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTVTVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMTQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM
C3H1-type domains repeats
ZN_FING 13 41 C3H1-type 1 ZN_FING 47 73 C3H1-type 2 ZN_FING 179 207 C3H1-type 3 ZN_FING 215 241 C3H1-type 4
Domin repeated regions
13 - 41 WLTLEVCREFQRGTCSRPDTECKFAHPSK 47 - 73 NGRVIACFDSLKGRCSRENCKYLHPPP 179 - 207 TDRLEVCREYQRGNCNRGENDCRFAHPAD 215 - 241 DNTVTVCMDYIKGRCSREKCKYFHPPA
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"
Disease
"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 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 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"