Details for: MBNL1

Gene ID: 4154

Symbol: MBNL1

Ensembl ID: ENSG00000152601

Description: muscleblind like splicing regulator 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 6.14
    Marker Score: 25,583
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 6.02
    Marker Score: 15,076
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 5.5
    Marker Score: 3,619
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 4.58
    Marker Score: 2,481
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 4.41
    Marker Score: 1,594
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 4.36
    Marker Score: 5,436
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 4.29
    Marker Score: 95,976
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 4.08
    Marker Score: 2,270
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 3.79
    Marker Score: 1,886
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.78
    Marker Score: 67,137
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 3.65
    Marker Score: 3,483
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.65
    Marker Score: 4,133
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.57
    Marker Score: 6,872
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 3.55
    Marker Score: 187,838
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 3.54
    Marker Score: 56,850
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 3.46
    Marker Score: 1,266
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 3.45
    Marker Score: 877
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 3.35
    Marker Score: 10,960
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 3.32
    Marker Score: 9,304
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.22
    Marker Score: 7,068
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 3.19
    Marker Score: 2,413
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 3.18
    Marker Score: 10,032
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 3.13
    Marker Score: 812
  • Cell Name: blood cell (CL0000081)
    Fold Change: 3.12
    Marker Score: 36,257
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 3.05
    Marker Score: 1,481
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 3.04
    Marker Score: 2,385
  • Cell Name: fat cell (CL0000136)
    Fold Change: 3.01
    Marker Score: 1,682
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.99
    Marker Score: 2,453
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.99
    Marker Score: 2,649
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 2.98
    Marker Score: 6,249
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.94
    Marker Score: 29,798
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.92
    Marker Score: 3,364
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 2.89
    Marker Score: 3,027
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 2.87
    Marker Score: 4,176
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 2.87
    Marker Score: 7,001
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.85
    Marker Score: 159,392
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 2.84
    Marker Score: 12,179
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 2.81
    Marker Score: 1,403
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 2.81
    Marker Score: 1,211
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 2.8
    Marker Score: 4,996
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.78
    Marker Score: 9,876
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 2.77
    Marker Score: 1,123
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.77
    Marker Score: 1,459
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 2.77
    Marker Score: 835
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.75
    Marker Score: 58,790
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 2.74
    Marker Score: 27,142
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 2.72
    Marker Score: 3,755
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 2.71
    Marker Score: 590
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 2.7
    Marker Score: 1,685
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.68
    Marker Score: 2,065
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 2.66
    Marker Score: 4,561
  • Cell Name: podocyte (CL0000653)
    Fold Change: 2.65
    Marker Score: 981
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 2.65
    Marker Score: 17,247
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 2.64
    Marker Score: 518
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.64
    Marker Score: 631
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 2.64
    Marker Score: 2,844
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.63
    Marker Score: 2,276
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.63
    Marker Score: 1,568
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 2.6
    Marker Score: 2,126
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.58
    Marker Score: 6,186
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 2.58
    Marker Score: 2,269
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.57
    Marker Score: 2,742
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.56
    Marker Score: 739
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 2.56
    Marker Score: 587
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 2.56
    Marker Score: 3,768
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 2.55
    Marker Score: 1,802
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.55
    Marker Score: 1,772
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 2.55
    Marker Score: 954
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 2.53
    Marker Score: 1,629
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 2.52
    Marker Score: 781
  • Cell Name: Unknown (CL0000548)
    Fold Change: 2.49
    Marker Score: 1,818
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 2.49
    Marker Score: 2,406
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 2.47
    Marker Score: 553
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.44
    Marker Score: 11,293
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 2.44
    Marker Score: 1,787
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 2.44
    Marker Score: 632
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 2.43
    Marker Score: 2,646
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 2.43
    Marker Score: 598
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 2.42
    Marker Score: 2,162
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 2.41
    Marker Score: 868
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 2.41
    Marker Score: 2,327
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 2.41
    Marker Score: 2,141
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 2.4
    Marker Score: 1,476
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.4
    Marker Score: 2,896
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 2.4
    Marker Score: 2,148
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 2.39
    Marker Score: 2,659
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.39
    Marker Score: 2,731
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.38
    Marker Score: 2,529
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 2.38
    Marker Score: 2,018
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.38
    Marker Score: 7,051
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 2.38
    Marker Score: 824
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 2.36
    Marker Score: 589
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.36
    Marker Score: 18,120
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.36
    Marker Score: 35,308
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 2.36
    Marker Score: 2,168
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 2.35
    Marker Score: 2,214
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 2.35
    Marker Score: 1,779
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 2.35
    Marker Score: 1,948
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 2.34
    Marker Score: 1,576
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 2.33
    Marker Score: 4,568

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** MBNL1 exhibits several key characteristics that distinguish it from other RNA splicing regulators. These include: 1. **RNA binding specificity**: MBNL1 has a high affinity for specific RNA sequences, particularly those involved in alternative splicing and nonsense-mediated decay. 2. **Muscleblind-like domain**: The MBNL1 protein contains a muscleblind-like domain, which is responsible for its ability to recognize and bind to specific RNA sequences. 3. **Regulation of RNA splicing**: MBNL1 plays a critical role in regulating RNA splicing by interacting with various splicing factors and influencing the outcome of alternative splicing events. 4. **Stress granule association**: MBNL1 is also associated with stress granules, which are cytoplasmic structures involved in the regulation of RNA metabolism under stress conditions. **Pathways and Functions** MBNL1 is involved in several key pathways and functions, including: 1. **RNA splicing regulation**: MBNL1 regulates RNA splicing by interacting with splicing factors and influencing the outcome of alternative splicing events. 2. **Stress granule formation**: MBNL1 is involved in the formation of stress granules, which are cytoplasmic structures that regulate RNA metabolism under stress conditions. 3. **Cytoplasmic stress granule formation**: MBNL1 is also involved in the formation of cytoplasmic stress granules, which are involved in the regulation of RNA metabolism under stress conditions. 4. **Metal ion binding**: MBNL1 has been shown to bind to metal ions, which is thought to play a role in its RNA binding activity. **Clinical Significance** Dysregulation of MBNL1 has been implicated in various diseases, including: 1. **Myotonic dystrophy**: MBNL1 is a key regulator of RNA splicing in skeletal muscle, and its dysregulation has been implicated in myotonic dystrophy, a genetic disorder characterized by muscle wasting and weakness. 2. **Frontotemporal dementia**: MBNL1 has been implicated in frontotemporal dementia, a neurodegenerative disorder characterized by progressive cognitive decline and motor dysfunction. 3. **Other diseases**: MBNL1 has also been implicated in other diseases, including amyotrophic lateral sclerosis (ALS) and peripheral neuropathy. In conclusion, MBNL1 is a critical regulator of RNA splicing and processing, and its dysregulation has been implicated in various diseases. Further research is needed to fully understand the mechanisms by which MBNL1 regulates RNA metabolism and to develop therapeutic strategies for the treatment of these diseases.

Genular Protein ID: 2716243036

Symbol: MBNL1_HUMAN

Name: Muscleblind-like protein 1

UniProtKB Accession Codes:

Q9NR56 E9PBW7 O43311 O43797 Q86UV8 Q86UV9 Q96P92 Q96RE3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 7 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 EPD 1 Ensembl 11 EvolutionaryTrace 1 ExpressionAtlas 1 GO 16 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 12 PDBsum 6 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 Pumba 1 RNAct 1 RefSeq 20 SMART 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9455477

Title: Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 9455477

DOI: 10.1093/dnares/4.5.307

PubMed ID: 10970838

Title: Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.

PubMed ID: 10970838

DOI: 10.1093/emboj/19.17.4439

PubMed ID: 11590133

Title: Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

PubMed ID: 11590133

DOI: 10.1093/hmg/10.19.2165

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11929853

Title: Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

PubMed ID: 11929853

DOI: 10.1093/hmg/11.7.805

PubMed ID: 15257297

Title: Muscleblind proteins regulate alternative splicing.

PubMed ID: 15257297

DOI: 10.1038/sj.emboj.7600300

PubMed ID: 16946708

Title: Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing.

PubMed ID: 16946708

DOI: 10.1038/sj.emboj.7601296

PubMed ID: 18335541

Title: MBNL1 associates with YB-1 in cytoplasmic stress granules.

PubMed ID: 18335541

DOI: 10.1002/jnr.21655

PubMed ID: 19470458

Title: The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing.

PubMed ID: 19470458

DOI: 10.1073/pnas.0900342106

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25593321

Title: RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.

PubMed ID: 25593321

DOI: 10.1074/jbc.m114.621607

PubMed ID: 19043415

Title: Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1.

PubMed ID: 19043415

DOI: 10.1038/nsmb.1519

PubMed ID: 27222292

Title: Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

PubMed ID: 27222292

DOI: 10.1038/ejhg.2016.41

Sequence Information:

  • Length: 388
  • Mass: 41817
  • Checksum: 118D256A81A86695
  • Sequence:
    • MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV IACFDSLKGR 
CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM QLANAMMPGA PLQPVPMFSV 
APSLATNASA AAFNPYLGPV SPSLVPAEIL PTAPMLVTGN PGVPVPAAAA AAAQKLMRTD 
RLEVCREYQR GNCNRGENDC RFAHPADSTM IDTNDNTVTV CMDYIKGRCS REKCKYFHPP 
AHLQAKIKAA QYQVNQAAAA QAAATAAAMT QSAVKSLKRP LEATFDLGIP QAVLPPLPKR 
PALEKTNGAT AVFNTGIFQY QQALANMQLQ QHTAFLPPVP MVHGATPATV SAATTSATSV 
PFAATATANQ IPIISAEHLT SHKYVTQM

Genular Protein ID: 3802225217

Symbol: Q86VM6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86VM6

Database IDs:

ARBA 4 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 6 EPD 1 Ensembl 2 GO 3 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 4 SMART 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 343
  • Mass: 36551
  • Checksum: 7F9CE984EB6FB72E
  • Sequence:
    • MGRCSRENCK YLHPPPHLKT QLEINGRNNL IQQKNMAMLA QQMQLANAMM PGAPLQPVPM 
FSVAPSLATN ASAAAFNPYL GPVSPSLVPA EILPTAPMLV TGNPGVPVPA AAAAAAQKLM 
RTDRLEVCRE YQRGNCNRGE NDCRFAHPAD STMIDTNDNT VTVCMDYIKG RCSREKCKYF 
HPPAHLQAKI KAAQYQVNQA AAAQAAATAA AMTQSAVKSL KRPLEATFDL GIPQAVLPPL 
PKRPALEKTN GATAVFNTGI FQYQQALANM QLQQHTAFLP PGSILCMTPA TSVVPMVHGA 
TPATVSAATT SATSVPFAAT ATANQIPIIS AEHLTSHKYV TQM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.