Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4154
Gene name Gene Name - the full gene name approved by the HGNC.
Muscleblind like splicing regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MBNL1
Synonyms (NCBI Gene) Gene synonyms aliases
EXP, MBNL
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q25.1-q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0001701 Process In utero embryonic development ISS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
GO:0003723 Function RNA binding IDA 15257297, 16946708
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606516 6923 ENSG00000152601
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
30054458
Prostate cancer Prostate carcinoma, Prostate cancer, familial rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 29892016
Prostate cancer, hereditary PROSTATE CANCER, HEREDITARY, 1 rs387906327, rs193929331, rs74315365, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466 29892016
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
17464717
Unknown
Disease term Disease name Evidence References Source
Myotonic dystrophy MYOTONIC DYSTROPHY 1 27222292, 11929853 ClinVar
Diabetes Diabetes GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Neuroticism Neuroticism GWAS
Associations from Text Mining
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