Details for: MBNL1

Gene ID: 4154

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: MBNL1

Ensembl ID: ENSG00000152601

Description: muscleblind like splicing regulator 1

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • adipocyte CL0000136
    CSI 93.27
    rCSI 100%
    PRS 5.94
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 78.24
    rCSI 60.28%
    PRS 4.36
  • cardiac muscle cell CL0000746
    CSI 75.25
    rCSI 100%
    PRS 4.03
  • myeloid dendritic cell CL0000782
    CSI 48.41
    rCSI 70.14%
    PRS 7.1
  • cerebral cortex endothelial cell CL1001602
    CSI 47.13
    rCSI 81.53%
    PRS 3.7
  • CD16-positive, CD56-dim natural killer cell, human CL0000939
    CSI 45.68
    rCSI 30.44%
    PRS 13.59
  • CD4-positive helper T cell CL0000492
    CSI 41.82
    rCSI 31.64%
    PRS 6.78
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 39.87
    rCSI 66.92%
    PRS 2.91
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 39.75
    rCSI 96.6%
    PRS 2.83
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 38.36
    rCSI 100%
    PRS 5.63
  • sncg GABAergic cortical interneuron CL4023015
    CSI 38.06
    rCSI 61.22%
    PRS 3.31
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 35.86
    rCSI 77.78%
    PRS 2.33
  • hematopoietic stem cell CL0000037
    CSI 35.4
    rCSI 23.53%
    PRS 5.75
  • intermediate monocyte CL0002393
    CSI 34.86
    rCSI 52.59%
    PRS 4.74
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 33.82
    rCSI 42.08%
    PRS 2.65
  • central nervous system macrophage CL0000878
    CSI 33.02
    rCSI 100%
    PRS 3.86
  • naive thymus-derived CD4-positive, alpha-beta T cell CL0000895
    CSI 29.12
    rCSI 36.59%
    PRS 25.69
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 28.15
    rCSI 88.03%
    PRS 3.38
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 27.46
    rCSI 98.82%
    PRS 2.61
  • L6b glutamatergic cortical neuron CL4023038
    CSI 27.44
    rCSI 85.75%
    PRS 3.1
  • epicardial adipocyte CL1000309
    CSI 25.15
    rCSI 81.84%
    PRS 7.5
  • BEST4+ enteroycte CL4030026
    CSI 23.89
    rCSI 29.72%
    PRS 5.15
  • basophil CL0000767
    CSI 22.67
    rCSI 47.97%
    PRS 10.72
  • CD16-negative, CD56-bright natural killer cell, human CL0000938
    CSI 22.34
    rCSI 16.76%
    PRS 14.6
  • renal interstitial pericyte CL1001318
    CSI 20.33
    rCSI 56.03%
    PRS 5.48
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 19.39
    rCSI 73.27%
    PRS 3.07
  • tissue-resident macrophage CL0000864
    CSI 19.28
    rCSI 90.21%
    PRS 13.22
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 19.2
    rCSI 23.27%
    PRS 7.25
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 18.74
    rCSI 44.83%
    PRS 2.7
  • microglial cell CL0000129
    CSI 18.21
    rCSI 73.29%
    PRS 20.24
  • VIP GABAergic cortical interneuron CL4023016
    CSI 18.06
    rCSI 21.57%
    PRS 2.88
  • common dendritic progenitor CL0001029
    CSI 17.71
    rCSI 22.23%
    PRS 6.13
  • keratocyte CL0002363
    CSI 17.64
    rCSI 42.42%
    PRS 7.51
  • microcirculation associated smooth muscle cell CL0008035
    CSI 17.4
    rCSI 50.38%
    PRS 5.47
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 16.88
    rCSI 11.37%
    PRS 5.86
  • cardiac neuron CL0010022
    CSI 16.83
    rCSI 53.85%
    PRS 3.5
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 16.56
    rCSI 54.41%
    PRS 2.43
  • fibroblast of cardiac tissue CL0002548
    CSI 16.5
    rCSI 79.04%
    PRS 2.79
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 15.95
    rCSI 93.89%
    PRS 3.14
  • mature B cell CL0000785
    CSI 15.91
    rCSI 13.83%
    PRS 5.94
  • naive thymus-derived CD8-positive, alpha-beta T cell CL0000900
    CSI 15.87
    rCSI 11.15%
    PRS 14.37
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 15.75
    rCSI 16.05%
    PRS 6.98
  • brush cell of tracheobronchial tree CL0002075
    CSI 15.66
    rCSI 46.49%
    PRS 8.17
  • activated CD8-positive, alpha-beta T cell, human CL0001049
    CSI 15.3
    rCSI 26.17%
    PRS 10.57
  • T-helper 1 cell CL0000545
    CSI 15.17
    rCSI 27.38%
    PRS 14.65
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 14.16
    rCSI 12.78%
    PRS 4.25
  • neuron CL0000540
    CSI 13.78
    rCSI 36.71%
    PRS 4.78
  • promyelocyte CL0000836
    CSI 13.42
    rCSI 19.35%
    PRS 6.71
  • paneth cell of epithelium of small intestine CL1000343
    CSI 13.37
    rCSI 37.46%
    PRS 7.6
  • endothelial cell of placenta CL0009092
    CSI 13.06
    rCSI 64.36%
    PRS 6.55
  • large pre-B-II cell CL0000957
    CSI 12.86
    rCSI 36.72%
    PRS 8.57
  • gamma-delta T cell CL0000798
    CSI 12.66
    rCSI 14.87%
    PRS 43.84
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 12.47
    rCSI 7.36%
    PRS 6.75
  • enteroglial cell CL4040002
    CSI 12.29
    rCSI 64.62%
    PRS 11.37
  • hepatocyte CL0000182
    CSI 12.21
    rCSI 21.85%
    PRS 4.65
  • colon macrophage CL0009038
    CSI 12.02
    rCSI 55.53%
    PRS 10.62
  • mature NK T cell CL0000814
    CSI 11.87
    rCSI 15.18%
    PRS 22.22
  • cardiac blood vessel endothelial cell CL0010006
    CSI 11.85
    rCSI 83.78%
    PRS 8.93
  • enterocyte of epithelium of large intestine CL0002071
    CSI 11.72
    rCSI 61.54%
    PRS 9.69
  • myoepithelial cell CL0000185
    CSI 11.66
    rCSI 29.5%
    PRS 6.1
  • cardiac endothelial cell CL0010008
    CSI 11.61
    rCSI 46.85%
    PRS 5.22
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 11.26
    rCSI 19.89%
    PRS 2.88
  • endocardial cell CL0002350
    CSI 11.09
    rCSI 53.1%
    PRS 7.9
  • renal alpha-intercalated cell CL0005011
    CSI 10.93
    rCSI 14.61%
    PRS 6.57
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI 10.86
    rCSI 21.66%
    PRS 8.29
  • kidney connecting tubule epithelial cell CL1000768
    CSI 10.82
    rCSI 27.44%
    PRS 3.83
  • choroid plexus epithelial cell CL0000706
    CSI 10.72
    rCSI 17.56%
    PRS 3.79
  • sst GABAergic cortical interneuron CL4023017
    CSI 10.63
    rCSI 13.71%
    PRS 3.08
  • CD14-positive, CD16-negative classical monocyte CL0002057
    CSI 10.57
    rCSI 63.96%
    PRS 11.34
  • regular atrial cardiac myocyte CL0002129
    CSI 10.48
    rCSI 33.75%
    PRS 5.78
  • CD8-positive, alpha-beta memory T cell CL0000909
    CSI 10.44
    rCSI 10.91%
    PRS 15.52
  • renal principal cell CL0005009
    CSI 10.43
    rCSI 27.1%
    PRS 7.06
  • naive B cell CL0000788
    CSI 10.37
    rCSI 8.89%
    PRS 12.88
  • retinal blood vessel endothelial cell CL0002585
    CSI 10.36
    rCSI 16.55%
    PRS 5.25
  • lung endothelial cell CL1001567
    CSI 10.14
    rCSI 23.64%
    PRS 12.72
  • vascular leptomeningeal cell CL4023051
    CSI 9.95
    rCSI 17.45%
    PRS 3.72
  • oligodendrocyte CL0000128
    CSI 9.83
    rCSI 29.05%
    PRS 2.93
  • mesangial cell CL0000650
    CSI 9.58
    rCSI 39.05%
    PRS 7.84
  • mucosal invariant T cell CL0000940
    CSI 9.47
    rCSI 7.65%
    PRS 11.17
  • contractile cell CL0000183
    CSI 9.41
    rCSI 27.76%
    PRS 3.48
  • intraepithelial lymphocyte CL0002496
    CSI 9.35
    rCSI 25.45%
    PRS 23.36
  • central nervous system neuron CL2000029
    CSI 9.2
    rCSI 67.6%
    PRS 2.34
  • Hofbauer cell CL3000001
    CSI 9.2
    rCSI 17.36%
    PRS 6.02
  • regular ventricular cardiac myocyte CL0002131
    CSI 9.09
    rCSI 56.8%
    PRS 3.99
  • myeloid lineage restricted progenitor cell CL0000839
    CSI 9.05
    rCSI 46.73%
    PRS 9.67
  • lymphoid lineage restricted progenitor cell CL0000838
    CSI 8.99
    rCSI 35.01%
    PRS 8.02
  • precursor B cell CL0000817
    CSI 8.94
    rCSI 7.83%
    PRS 6.5
  • astrocyte of the cerebral cortex CL0002605
    CSI 8.88
    rCSI 19.92%
    PRS 3.06
  • common myeloid progenitor CL0000049
    CSI 8.71
    rCSI 7.04%
    PRS 4.74
  • endothelial cell of arteriole CL1000412
    CSI 8.67
    rCSI 48.08%
    PRS 22.21
  • regulatory T cell CL0000815
    CSI 8.45
    rCSI 9.8%
    PRS 16.75
  • transitional stage B cell CL0000818
    CSI 8.38
    rCSI 27.42%
    PRS 15.13
  • periportal region hepatocyte CL0019026
    CSI 8.36
    rCSI 32.52%
    PRS 8.04
  • mesenchymal stem cell of adipose tissue CL0002570
    CSI 8.19
    rCSI 45.66%
    PRS 17.98
  • unswitched memory B cell CL0000970
    CSI 8.15
    rCSI 6.86%
    PRS 8.09
  • granulocyte monocyte progenitor cell CL0000557
    CSI 8.02
    rCSI 6.95%
    PRS 5.37
  • oligodendrocyte precursor cell CL0002453
    CSI 7.95
    rCSI 17.49%
    PRS 1.69
  • dendritic cell, human CL0001056
    CSI 7.89
    rCSI 12.12%
    PRS 5.6
  • hematopoietic precursor cell CL0008001
    CSI 7.87
    rCSI 8.1%
    PRS 7.89
  • alpha-beta T cell CL0000789
    CSI 7.81
    rCSI 9.15%
    PRS 7.66
  • placental villous trophoblast CL2000060
    CSI -17.9
    rCSI -27.7%
    PRS 4.5%
  • radial glial cell CL0000681
    CSI -15.0
    rCSI -20.8%
    PRS 5.1%
  • dopaminergic neuron CL0000700
    CSI -11.4
    rCSI -64.5%
    PRS 1.5%
  • glioblast CL0000030
    CSI -9.3
    rCSI -14.9%
    PRS 4.2%
  • mesenchymal cell CL0008019
    CSI -8.2
    rCSI -20.9%
    PRS 4.9%
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI -5.6
    rCSI -6.5%
    PRS 4.4%
  • extravillous trophoblast CL0008036
    CSI -5.5
    rCSI -6.8%
    PRS 4.2%
  • retinal bipolar neuron CL0000748
    CSI -5.2
    rCSI -9.8%
    PRS 3.7%
  • enteroendocrine cell CL0000164
    CSI -5.2
    rCSI -7.1%
    PRS 5.3%
  • luminal cell of prostate epithelium CL0002340
    CSI -3.7
    rCSI -20.0%
    PRS 8.8%
  • pulmonary ionocyte CL0017000
    CSI -3.6
    rCSI -4.4%
    PRS 6.1%
  • secretory cell CL0000151
    CSI -3.1
    rCSI -3.3%
    PRS 4.9%
  • ciliated cell CL0000064
    CSI -3.0
    rCSI -4.9%
    PRS 4.9%
  • tracheobronchial serous cell CL0019001
    CSI -2.9
    rCSI -12.6%
    PRS 9.4%
  • rod bipolar cell CL0000751
    CSI -2.4
    rCSI -4.4%
    PRS 4.1%
  • ionocyte CL0005006
    CSI -2.4
    rCSI -2.6%
    PRS 4.5%
  • brain vascular cell CL4023072
    CSI -2.0
    rCSI -20.9%
    PRS 4.4%
  • M cell of gut CL0000682
    CSI -2.0
    rCSI -2.1%
    PRS 8.7%
  • goblet cell CL0000160
    CSI -2.0
    rCSI -1.8%
    PRS 5.0%
  • interneuron CL0000099
    CSI -1.7
    rCSI -3.4%
    PRS 3.6%
  • colonocyte CL1000347
    CSI -1.7
    rCSI -2.4%
    PRS 6.7%
  • naive T cell CL0000898
    CSI -1.4
    rCSI -1.0%
    PRS 7.0%
  • intestine goblet cell CL0019031
    CSI -1.4
    rCSI -1.2%
    PRS 4.8%
  • Mueller cell CL0000636
    CSI -1.3
    rCSI -2.9%
    PRS 4.5%
  • metallothionein-positive alveolar macrophage CL4033042
    CSI -1.0
    rCSI -11.4%
    PRS 23.8%
  • exhausted T cell CL0011025
    CSI -1.0
    rCSI -16.4%
    PRS 24.6%
  • starburst amacrine cell CL0004232
    CSI -1.0
    rCSI -8.1%
    PRS 7.1%
  • GABAergic neuron CL0000617
    CSI -0.9
    rCSI -3.1%
    PRS 4.2%
  • retina horizontal cell CL0000745
    CSI -0.6
    rCSI -0.9%
    PRS 4.5%
  • cerebellar neuron CL1001611
    CSI -0.5
    rCSI -4.7%
    PRS 1.3%
  • neural progenitor cell CL0011020
    CSI -0.5
    rCSI -2.3%
    PRS 4.9%
  • CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell CL0000915
    CSI -0.4
    rCSI -2.0%
    PRS 18.3%
  • tracheal goblet cell CL1000329
    CSI -0.3
    rCSI -0.7%
    PRS 9.9%
  • endothelial cell of periportal hepatic sinusoid CL0019021
    CSI -0.3
    rCSI -1.3%
    PRS 17.7%
  • natural T-regulatory cell CL0000903
    CSI -0.2
    rCSI -0.4%
    PRS 13.9%
  • basal-myoepithelial cell of mammary gland CL0002324
    CSI 0.0
    rCSI 0.0%
    PRS 10.9%
  • kidney interstitial fibroblast CL1000692
    CSI 0.0
    rCSI 0.1%
    PRS 21.7%
  • pancreatic stellate cell CL0002410
    CSI 0.0
    rCSI 0.1%
    PRS 7.3%
  • mesenchymal stem cell CL0000134
    CSI 0.0
    rCSI 0.5%
    PRS 8.9%
  • luminal epithelial cell of mammary gland CL0002326
    CSI 0.1
    rCSI 0.1%
    PRS 7.4%
  • pre-conventional dendritic cell CL0002010
    CSI 0.1
    rCSI 0.9%
    PRS 17.0%
  • hair follicular keratinocyte CL2000092
    CSI 0.1
    rCSI 1.2%
    PRS 20.4%
  • vasa recta descending limb cell CL1001285
    CSI 0.1
    rCSI 0.8%
    PRS 22.0%
  • respiratory goblet cell CL0002370
    CSI 0.1
    rCSI 1.1%
    PRS 9.2%
  • collagen secreting cell CL0000667
    CSI 0.1
    rCSI 0.6%
    PRS 25.1%
  • smooth muscle cell of the pulmonary artery CL0002591
    CSI 0.1
    rCSI 0.8%
    PRS 27.0%
  • cerebral cortex neuron CL0010012
    CSI 0.1
    rCSI 0.4%
    PRS 5.8%
  • lung pericyte CL0009089
    CSI 0.1
    rCSI 0.3%
    PRS 5.8%
  • hepatic pit cell CL2000054
    CSI 0.1
    rCSI 1.7%
    PRS 45.8%
  • S cone cell CL0003050
    CSI 0.1
    rCSI 0.6%
    PRS 4.1%
  • pancreatic D cell CL0000173
    CSI 0.2
    rCSI 0.1%
    PRS 5.3%
  • pancreatic acinar cell CL0002064
    CSI 0.2
    rCSI 0.2%
    PRS 5.3%
  • deuterosomal cell CL4033044
    CSI 0.2
    rCSI 0.6%
    PRS 8.3%
  • NKp44-negative group 3 innate lymphoid cell, human CL0001080
    CSI 0.2
    rCSI 5.3%
    PRS 55.7%
  • pancreatic epsilon cell CL0005019
    CSI 0.2
    rCSI 0.8%
    PRS 12.1%
  • paneth cell of colon CL0009009
    CSI 0.2
    rCSI 1.9%
    PRS 14.8%
  • pancreatic A cell CL0000171
    CSI 0.2
    rCSI 0.2%
    PRS 5.2%
  • pancreatic ductal cell CL0002079
    CSI 0.2
    rCSI 0.4%
    PRS 4.9%
  • cell of skeletal muscle CL0000188
    CSI 0.2
    rCSI 2.4%
    PRS 32.3%
  • enterocyte of epithelium of small intestine CL1000334
    CSI 0.3
    rCSI 4.0%
    PRS 12.7%
  • pancreatic PP cell CL0002275
    CSI 0.3
    rCSI 1.1%
    PRS 8.7%
  • tracheobronchial smooth muscle cell CL0019019
    CSI 0.3
    rCSI 0.5%
    PRS 6.4%
  • cytotoxic T cell CL0000910
    CSI 0.3
    rCSI 1.6%
    PRS 7.5%
  • lung resident memory CD4-positive, alpha-beta T cell CL4033038
    CSI 0.3
    rCSI 3.2%
    PRS 48.8%
  • brush cell CL0002204
    CSI 0.3
    rCSI 0.7%
    PRS 14.0%
  • OFF-bipolar cell CL0000750
    CSI 0.3
    rCSI 0.5%
    PRS 8.5%
  • lung interstitial macrophage CL4033043
    CSI 0.3
    rCSI 0.8%
    PRS 12.1%
  • mesodermal cell CL0000222
    CSI 0.4
    rCSI 0.4%
    PRS 4.8%
  • Kupffer cell CL0000091
    CSI 0.4
    rCSI 0.8%
    PRS 4.7%
  • IgM plasma cell CL0000986
    CSI 0.4
    rCSI 1.6%
    PRS 26.2%
  • enteroendocrine cell of colon CL0009042
    CSI 0.4
    rCSI 1.7%
    PRS 13.4%
  • midbrain dopaminergic neuron CL2000097
    CSI 0.4
    rCSI 2.4%
    PRS 8.8%
  • acinar cell CL0000622
    CSI 0.4
    rCSI 0.6%
    PRS 6.4%
  • erythroid lineage cell CL0000764
    CSI 0.4
    rCSI 2.6%
    PRS 12.8%
  • slow muscle cell CL0000189
    CSI 0.4
    rCSI 5.8%
    PRS 41.5%
  • GABAergic amacrine cell CL4030027
    CSI 0.5
    rCSI 1.6%
    PRS 5.7%
  • mammary gland epithelial cell CL0002327
    CSI 0.5
    rCSI 1.7%
    PRS 8.8%
  • respiratory suprabasal cell CL4033048
    CSI 0.5
    rCSI 0.6%
    PRS 5.6%
  • mucus secreting cell CL0000319
    CSI 0.5
    rCSI 0.8%
    PRS 6.3%
  • activated type II NK T cell CL0000931
    CSI 0.5
    rCSI 0.6%
    PRS 8.1%
  • alveolar adventitial fibroblast CL4028006
    CSI 0.5
    rCSI 0.8%
    PRS 4.8%
  • group 2 innate lymphoid cell CL0001069
    CSI 0.5
    rCSI 2.8%
    PRS 17.1%
  • diffuse bipolar 4 cell CL4033031
    CSI 0.5
    rCSI 6.0%
    PRS 6.9%
  • intrahepatic cholangiocyte CL0002538
    CSI 0.5
    rCSI 1.3%
    PRS 9.2%
  • vasa recta ascending limb cell CL1001131
    CSI 0.6
    rCSI 2.5%
    PRS 22.1%
  • erythroblast CL0000765
    CSI 0.6
    rCSI 1.5%
    PRS 8.2%
  • basophil mast progenitor cell CL0002028
    CSI 0.6
    rCSI 3.0%
    PRS 15.7%
  • lung neuroendocrine cell CL1000223
    CSI 0.6
    rCSI 0.8%
    PRS 5.6%
  • basal cell of prostate epithelium CL0002341
    CSI 0.6
    rCSI 1.7%
    PRS 10.9%
  • diffuse bipolar 1 cell CL4033027
    CSI 0.6
    rCSI 4.4%
    PRS 6.1%
  • transit amplifying cell CL0009010
    CSI 0.6
    rCSI 0.9%
    PRS 7.9%
  • primitive red blood cell CL0002355
    CSI 0.6
    rCSI 3.5%
    PRS 9.6%
  • duct epithelial cell CL0000068
    CSI 0.7
    rCSI 1.0%
    PRS 5.1%
  • interstitial cell of Cajal CL0002088
    CSI 0.7
    rCSI 0.9%
    PRS 5.6%
  • mucous neck cell CL0000651
    CSI 0.7
    rCSI 1.0%
    PRS 7.8%
  • serotonergic neuron CL0000850
    CSI 0.7
    rCSI 3.1%
    PRS 1.5%
  • B-1 B cell CL0000819
    CSI 0.7
    rCSI 17.9%
    PRS 28.2%
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 0.7
    rCSI 1.6%
    PRS 5.1%
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI 0.7
    rCSI 2.0%
    PRS 7.0%
  • enterocyte CL0000584
    CSI 0.7
    rCSI 1.1%
    PRS 7.9%

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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.

Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [MBNL1](/details-gene/4154) (muscleblind like splicing regulator 1) is a protein-coding gene that functions as a critical regulator of alternative RNA splicing and mRNA processing. It exerts its function primarily through binding to double-stranded RNA structures. The protein is implicated as a key factor in the pathology of myotonic dystrophy, where its sequestration by toxic expanded RNA repeats leads to widespread splicing defects ([Link](https://doi.org/10.1093/emboj/19.17.4439); [Link](https://doi.org/10.1093/hmg/10.19.2165)). **Overall**, [MBNL1](/details-gene/4154) shows the highest significance in terminally differentiated, metabolically active cell types, including [adipocytes](/details-cell/CL0000136), [cardiac muscle cells](/details-cell/CL0000746), and various immune cell subsets, suggesting a fundamental role in maintaining the specialized transcriptomes of these lineages. ## Cellular Roles and Expression Landscape The expression profile of [MBNL1](/details-gene/4154) indicates a widespread but highly specific role in mature cell types across multiple tissues. Its highest significance is observed in tissues with high metabolic and functional demands, including mesenchymal and muscle lineages. It is a top marker in [adipocytes](/details-cell/CL0000136) (CSI: 93.27) and [cardiac muscle cells](/details-cell/CL0000746) (CSI: 75.25), which aligns with its established role in muscle development and function. Beyond muscle and fat, [MBNL1](/details-gene/4154) is a significant factor in the immune system. It shows high significance in both myeloid and lymphoid lineages, including [CD14-low, CD16-positive monocytes](/details-cell/CL0002396) (CSI: 78.24), [myeloid dendritic cells](/details-cell/CL0000782) (CSI: 48.41), and [CD16-positive, CD56-dim natural killer cells, human](/details-cell/CL0000939) (CSI: 45.68), suggesting a role in post-transcriptional regulation during immune surveillance and response. Furthermore, it is significantly expressed in various neuronal subtypes, such as [lamp5 GABAergic cortical interneurons](/details-cell/CL4023011) and [L2/3-6 intratelencephalic projecting glutamatergic neurons](/details-cell/CL4023040), consistent with its importance in nervous system development and function. Conversely, [MBNL1](/details-gene/4154) shows low to negative significance in progenitor populations like [radial glial cells](/details-cell/CL0000681) and specialized epithelial or secretory cells, including [placental villous trophoblasts](/details-cell/CL2000060) and [enteroendocrine cells](/details-cell/CL0000164). This pattern suggests that its primary role is not in early development or certain secretory lineages, but rather in the maintenance and function of terminally differentiated cells. ## Pathways and Molecular Function [MBNL1](/details-gene/4154) is a well-characterized RNA-binding protein central to the regulation of post-transcriptional gene expression. Its primary functions involve the [regulation of rna splicing](/details-gene/4154) ([GO:0043484](https://www.ebi.ac.uk/QuickGO/term/GO:0043484)) and [mrna processing](/details-gene/4154) ([GO:0006397](https://www.ebi.ac.uk/QuickGO/term/GO:0006397)) ([Link](https://doi.org/10.1038/sj.emboj.7600300)). At the molecular level, it recognizes specific RNA secondary structures via its [double-stranded rna binding](/details-gene/4154) domains ([GO:0003725](https://www.ebi.ac.uk/QuickGO/term/GO:0003725)) ([Link](https://doi.org/10.1038/nsmb.1519)). The gene's annotated biological processes are consistent with its cellular expression landscape. Its involvement in [myoblast differentiation](/details-gene/4154) ([GO:0045445](https://www.ebi.ac.uk/QuickGO/term/GO:0045445)) directly relates to its high significance in [cardiac muscle cells](/details-cell/CL0000746). Similarly, its role in [nervous system development](/details-gene/4154) ([GO:0007399](https://www.ebi.ac.uk/QuickGO/term/GO:0007399)) corresponds to its expression across multiple neuron subtypes. Cellularly, [MBNL1](/details-gene/4154) localizes primarily to the [nucleus](/details-gene/4154) ([GO:0005634](https://www.ebi.ac.uk/QuickGO/term/GO:0005634)) and [nucleoplasm](/details-gene/4154) ([GO:0005654](https://www.ebi.ac.uk/QuickGO/term/GO:0005654)), the site of pre-mRNA splicing. However, it is also found in the [cytoplasm](/details-gene/4154) ([GO:0005737](https://www.ebi.ac.uk/QuickGO/term/GO:0005737)) and can be recruited to [cytoplasmic stress granules](/details-gene/4154) ([GO:0010494](https://www.ebi.ac.uk/QuickGO/term/GO:0010494)), indicating a dynamic role in mRNA metabolism under cellular stress ([Link](https://doi.org/10.1002/jnr.21655)). ## Research Directions The central role of [MBNL1](/details-gene/4154) in the pathology of myotonic dystrophy, where its functional depletion through sequestration by toxic RNA repeats causes disease, provides a clear framework for future investigation. Understanding how this loss-of-function mechanism specifically impacts the diverse cell types where [MBNL1](/details-gene/4154) is highly expressed is a key research area. Based on its functional annotations and expression patterns, several testable hypotheses can be proposed: 1. Given its high significance in both [adipocytes](/details-cell/CL0000136) and [cardiac muscle cells](/details-cell/CL0000746), [MBNL1](/details-gene/4154) likely governs a shared splicing program essential for the regulation of metabolic pathways and cellular contractility. Its dysfunction could contribute to the metabolic and cardiac comorbidities seen in myotonic dystrophy. 2. The high significance of [MBNL1](/details-gene/4154) in immune cells, particularly [CD14-low, CD16-positive monocytes](/details-cell/CL0002396), suggests it is a key regulator of immune cell function. It may control the alternative splicing of transcripts for inflammatory cytokines, chemokines, or cell surface receptors, thereby modulating the inflammatory response. To test the second hypothesis regarding its role in monocyte function, a key experiment would be to use CRISPR-Cas9 to knock out [MBNL1](/details-gene/4154) in primary human CD14+ monocytes. Following knockout, cells would be stimulated with lipopolysaccharide (LPS) to induce an inflammatory response. The impact of [MBNL1](/details-gene/4154) loss would be assessed by performing deep RNA sequencing to identify global changes in alternative splicing events and by quantifying cytokine secretion (e.g., TNF-α, IL-6, IL-1β) using ELISA to measure the functional consequences on the inflammatory output. Given that the pathology associated with [MBNL1](/details-gene/4154) is primarily a loss-of-function phenotype, therapeutic strategies should focus on restoring its activity. This makes it a target for activation or functional rescue rather than inhibition. Potential therapeutic approaches could include small molecules designed to disrupt the binding of [MBNL1](/details-gene/4154) to toxic RNA repeats, or gene therapy approaches aimed at increasing [MBNL1](/details-gene/4154) expression levels to overcome its sequestration.

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