Details for: MBNL1

Gene ID: 4154

Symbol: MBNL1

Ensembl ID: ENSG00000152601

Description: muscleblind like splicing regulator 1

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 752.8036
    Cell Significance Index: -117.1000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 461.1987
    Cell Significance Index: -116.9800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 272.9164
    Cell Significance Index: -128.8500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 272.5121
    Cell Significance Index: -110.7100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 245.1470
    Cell Significance Index: -126.1000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 117.7071
    Cell Significance Index: -112.3800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 101.1756
    Cell Significance Index: -124.7500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 43.1415
    Cell Significance Index: -115.5700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 39.9306
    Cell Significance Index: -122.6500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 35.8953
    Cell Significance Index: -78.5600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 32.5471
    Cell Significance Index: -128.4300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 9.5934
    Cell Significance Index: 65.0000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 9.4986
    Cell Significance Index: 231.7600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 8.5661
    Cell Significance Index: 220.1900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 6.9057
    Cell Significance Index: 134.7800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 6.1131
    Cell Significance Index: 469.1100
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 5.9776
    Cell Significance Index: 96.4500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 4.5011
    Cell Significance Index: 125.7900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 4.2659
    Cell Significance Index: 275.2100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 3.8221
    Cell Significance Index: 445.4200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 3.7956
    Cell Significance Index: 54.5900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.7927
    Cell Significance Index: 554.2200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.6424
    Cell Significance Index: 530.0600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.2342
    Cell Significance Index: 263.4800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.1164
    Cell Significance Index: 759.1000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.8834
    Cell Significance Index: 71.3200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.8698
    Cell Significance Index: 46.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.8373
    Cell Significance Index: 81.2700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.6681
    Cell Significance Index: 86.8900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 1.5136
    Cell Significance Index: 19.0600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.4832
    Cell Significance Index: 83.2300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.2231
    Cell Significance Index: 82.2500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.1801
    Cell Significance Index: 145.1100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.1534
    Cell Significance Index: 797.7400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.0810
    Cell Significance Index: 477.9400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.0653
    Cell Significance Index: 28.5000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0054
    Cell Significance Index: 907.7900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9915
    Cell Significance Index: 178.7500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6466
    Cell Significance Index: 88.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6141
    Cell Significance Index: 99.8800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.4745
    Cell Significance Index: 8.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.4676
    Cell Significance Index: 212.2100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.4672
    Cell Significance Index: 7.8700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.4039
    Cell Significance Index: 5.8000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3559
    Cell Significance Index: 10.2600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3275
    Cell Significance Index: 178.8300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3224
    Cell Significance Index: 607.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3091
    Cell Significance Index: 14.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2302
    Cell Significance Index: 146.2100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2000
    Cell Significance Index: 9.4000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1269
    Cell Significance Index: 13.8100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.1175
    Cell Significance Index: 0.7100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1041
    Cell Significance Index: 192.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1022
    Cell Significance Index: 157.3900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0620
    Cell Significance Index: 1.8200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0117
    Cell Significance Index: -15.8500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0546
    Cell Significance Index: -34.1200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0600
    Cell Significance Index: -45.3900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0637
    Cell Significance Index: -47.2000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.1079
    Cell Significance Index: -79.1100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.1237
    Cell Significance Index: -23.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1260
    Cell Significance Index: -2.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1313
    Cell Significance Index: -74.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1403
    Cell Significance Index: -23.9500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1733
    Cell Significance Index: -6.0900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2794
    Cell Significance Index: -28.5400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2919
    Cell Significance Index: -4.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3124
    Cell Significance Index: -19.2000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3889
    Cell Significance Index: -111.8900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3932
    Cell Significance Index: -57.1600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.4034
    Cell Significance Index: -51.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.4171
    Cell Significance Index: -87.8500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5046
    Cell Significance Index: -14.4000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.5241
    Cell Significance Index: -51.8500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.5324
    Cell Significance Index: -14.2200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.6267
    Cell Significance Index: -13.4000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.6482
    Cell Significance Index: -45.8400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.6601
    Cell Significance Index: -85.2900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.8351
    Cell Significance Index: -95.3300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.8554
    Cell Significance Index: -89.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.9288
    Cell Significance Index: -106.4100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.9624
    Cell Significance Index: -60.6600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.0609
    Cell Significance Index: -30.4100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.0638
    Cell Significance Index: -28.5100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -1.2886
    Cell Significance Index: -96.0400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -1.4499
    Cell Significance Index: -21.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.4520
    Cell Significance Index: -115.0000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -1.4923
    Cell Significance Index: -75.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.5794
    Cell Significance Index: -73.6400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.6124
    Cell Significance Index: -83.7600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.8385
    Cell Significance Index: -39.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.8924
    Cell Significance Index: -99.3600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.9400
    Cell Significance Index: -118.9400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.1827
    Cell Significance Index: -69.9100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -2.3127
    Cell Significance Index: -47.9800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -2.5369
    Cell Significance Index: -64.8100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -2.5835
    Cell Significance Index: -61.9600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -2.6607
    Cell Significance Index: -84.7400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -2.6753
    Cell Significance Index: -87.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -2.7464
    Cell Significance Index: -74.7600

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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:

Database IDs:

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: 37548402

Title: Cell-type specific regulator RBPMS switches alternative splicing via higher-order oligomerization and heterotypic interactions with other splicing regulators.

PubMed ID: 37548402

DOI: 10.1093/nar/gkad652

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:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

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: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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.