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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anhedonia Anhedonia BEFREE 20360842
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia BEFREE 30558979
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 29771377, 33759281 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28869842, 30687188
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 29771377 Associate
★☆☆☆☆
Found in Text Mining only
Bethlem myopathy Bethlem myopathy Pubtator 36862922 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25913416, 35421923 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32601196, 35094653, 35112997 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35421923, 36908851 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 40171812 Associate
★☆☆☆☆
Found in Text Mining only