Gene Gene information from NCBI Gene database.
Entrez ID 4154
Gene name Muscleblind like splicing regulator 1
Gene symbol MBNL1
Synonyms (NCBI Gene)
EXPMBNL
Chromosome 3
Chromosome location 3q25.1-q25.2
Summary This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specif
miRNA miRNA information provided by mirtarbase database.
1170
miRTarBase ID miRNA Experiments Reference
MIRT005135 hsa-miR-30a-5p pSILAC 18668040
MIRT020228 hsa-miR-130b-3p Sequencing 20371350
MIRT022379 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT005135 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT030796 hsa-miR-21-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development ISS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IDA 15257297, 16946708
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606516 6923 ENSG00000152601
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR56
Protein name Muscleblind-like protein 1 (Triplet-expansion RNA-binding protein)
Protein 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 inclus
PDB 3D2N , 3D2Q , 3D2S , 5U6H , 5U6L , 5U9B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14608 zf-CCCH_2 19 39 Domain
PF14608 zf-CCCH_2 52 71 Domain
PF00642 zf-CCCH 180 206 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF14608 zf-CCCH_2 221 239 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:000026
Sequence
MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGR
CSRENCKYLHP
PPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSV
APSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLVTGNPGVPVPAAAAAAAQKLMRTD
RLEVCREYQRGNCNRGENDCRFAHPA
DSTMIDTNDNTVTVCMDYIKGRCSREKCKYFHPP
AHLQAKIKAAQYQVNQAAAAQAAATAAAMTQSAVKSLKRPLEATFDLGIPQAVLPPLPKR
PALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSV
PFAATATANQIPIISAEHLTSHKYVTQM
Sequence length 388
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MBNL1-related disorder Likely benign; Benign rs201037967, rs569885599, rs34089501, rs74497536 RCV003977178
RCV003924566
RCV003924237
RCV003976470
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Associate 29771377, 33759281
Autoimmune Diseases Associate 29771377
Bethlem myopathy Associate 36862922
Breast Neoplasms Associate 25913416, 35421923
Breast Neoplasms Inhibit 32601196, 35094653, 35112997
Carcinogenesis Associate 35421923, 36908851
Carcinoma Non Small Cell Lung Associate 31113460
Carcinoma Renal Cell Associate 40171812
Carcinoma Small Cell Associate 35421923
Carcinoma Squamous Cell Inhibit 33896245