Details for: USP53

Gene ID: 54532

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: USP53

Ensembl ID: ENSG00000145390

Description: ubiquitin specific peptidase 53

Cell Significance Landscape

Associated with

Significant Cells

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

  • cardiac muscle cell CL0000746
    CSI 39.71
    rCSI 56.98%
    PRS 59.68
  • chondrocyte CL0000138
    CSI 29.97
    rCSI 47.66%
    PRS 62.85
  • keratocyte CL0002363
    CSI 29.65
    rCSI 71.28%
    PRS 75.96
  • adipocyte CL0000136
    CSI 27.7
    rCSI 35.56%
    PRS 61.53
  • alveolar type 1 fibroblast cell CL4028004
    CSI 23.22
    rCSI 25.43%
    PRS 73.43
  • adventitial cell CL0002503
    CSI 17.68
    rCSI 42.22%
    PRS 77
  • central nervous system macrophage CL0000878
    CSI 16.8
    rCSI 55.67%
    PRS 75.18
  • epicardial adipocyte CL1000309
    CSI 15.57
    rCSI 50.68%
    PRS 69.32
  • fibroblast of lung CL0002553
    CSI 14.43
    rCSI 13.43%
    PRS 70.94
  • conjunctival epithelial cell CL1000432
    CSI 13.31
    rCSI 20.34%
    PRS 70.9
  • enteroglial cell CL4040002
    CSI 13.19
    rCSI 69.35%
    PRS 73.6
  • mature T cell CL0002419
    CSI 11.95
    rCSI 9.29%
    PRS 86.38
  • CD8-positive, alpha-beta memory T cell CL0000909
    CSI 11.05
    rCSI 11.54%
    PRS 87.75
  • pulmonary artery endothelial cell CL1001568
    CSI 10.75
    rCSI 14.63%
    PRS 80.46
  • cerebral cortex endothelial cell CL1001602
    CSI 10.48
    rCSI 18.13%
    PRS 60.62
  • enterocyte of epithelium of large intestine CL0002071
    CSI 10.04
    rCSI 52.73%
    PRS 78.03
  • glandular epithelial cell CL0000150
    CSI 9.39
    rCSI 24.72%
    PRS 85.51
  • kidney connecting tubule epithelial cell CL1000768
    CSI 8.72
    rCSI 22.12%
    PRS 59.81
  • fallopian tube secretory epithelial cell CL4030006
    CSI 8.51
    rCSI 8.19%
    PRS 69.99
  • secretory cell CL0000151
    CSI 8.37
    rCSI 8.74%
    PRS 70.17
  • Mueller cell CL0000636
    CSI 8.25
    rCSI 18.82%
    PRS 61.59
  • colon epithelial cell CL0011108
    CSI 7.85
    rCSI 8.22%
    PRS 67.19
  • corneal epithelial cell CL0000575
    CSI 7.76
    rCSI 22.19%
    PRS 79.67
  • renal alpha-intercalated cell CL0005011
    CSI 7.41
    rCSI 9.91%
    PRS 78.41
  • neural crest cell CL0011012
    CSI 7.38
    rCSI 5.83%
    PRS 57.4
  • transit amplifying cell of colon CL0009011
    CSI 6.98
    rCSI 8.19%
    PRS 72.42
  • bronchus fibroblast of lung CL2000093
    CSI 6.97
    rCSI 5.66%
    PRS 70.4
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 6.89
    rCSI 15.71%
    PRS 65.4
  • inhibitory interneuron CL0000498
    CSI 6.87
    rCSI 15.87%
    PRS 58.32
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 6.77
    rCSI 8.42%
    PRS 49.47
  • mesenchymal stem cell of adipose tissue CL0002570
    CSI 6.74
    rCSI 37.59%
    PRS 76.75
  • regular atrial cardiac myocyte CL0002129
    CSI 6.68
    rCSI 21.5%
    PRS 67.85
  • acinar cell CL0000622
    CSI 6.6
    rCSI 9.68%
    PRS 81.37
  • early lymphoid progenitor CL0000936
    CSI 6.39
    rCSI 5.61%
    PRS 75.62
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 6.06
    rCSI 8.58%
    PRS 66.4
  • retinal blood vessel endothelial cell CL0002585
    CSI 6.01
    rCSI 9.6%
    PRS 74.38
  • ciliated cell CL0000064
    CSI 6
    rCSI 9.71%
    PRS 65.89
  • periportal region hepatocyte CL0019026
    CSI 5.99
    rCSI 23.29%
    PRS 72.62
  • ependymal cell CL0000065
    CSI 5.88
    rCSI 11.94%
    PRS 48.45
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 5.6
    rCSI 17.52%
    PRS 55.66
  • small intestine goblet cell CL1000495
    CSI 5.58
    rCSI 12.22%
    PRS 77.04
  • retinal rod cell CL0000604
    CSI 5.54
    rCSI 9.76%
    PRS 66.32
  • L6b glutamatergic cortical neuron CL4023038
    CSI 5.26
    rCSI 16.45%
    PRS 53.17
  • enteric smooth muscle cell CL0002504
    CSI 5.1
    rCSI 7.29%
    PRS 72.06
  • cardiac neuron CL0010022
    CSI 5.08
    rCSI 16.26%
    PRS 67.3
  • podocyte CL0000653
    CSI 5.08
    rCSI 22.57%
    PRS 70.48
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 5.06
    rCSI 13.18%
    PRS 70.55
  • nasal mucosa goblet cell CL0002480
    CSI 5.01
    rCSI 5.81%
    PRS 76.36
  • hepatic stellate cell CL0000632
    CSI 4.91
    rCSI 18.39%
    PRS 62.16
  • epithelial cell CL0000066
    CSI 4.89
    rCSI 7.51%
    PRS 62.75
  • tissue-resident macrophage CL0000864
    CSI 4.56
    rCSI 21.35%
    PRS 84.1
  • skin fibroblast CL0002620
    CSI 4.56
    rCSI 3.93%
    PRS 73.78
  • colonocyte CL1000347
    CSI 4.47
    rCSI 6.41%
    PRS 72.6
  • lung pericyte CL0009089
    CSI 4.46
    rCSI 11.78%
    PRS 78.69
  • retinal bipolar neuron CL0000748
    CSI 4.31
    rCSI 8.08%
    PRS 57.93
  • respiratory suprabasal cell CL4033048
    CSI 4.18
    rCSI 5.36%
    PRS 74.48
  • Schwann cell CL0002573
    CSI 4.09
    rCSI 11.63%
    PRS 67.31
  • pro-B cell CL0000826
    CSI 3.97
    rCSI 3.29%
    PRS 72.71
  • pancreatic ductal cell CL0002079
    CSI 3.95
    rCSI 7.68%
    PRS 73.65
  • keratinocyte CL0000312
    CSI 3.89
    rCSI 3.26%
    PRS 73.58
  • ionocyte CL0005006
    CSI 3.84
    rCSI 4.12%
    PRS 70.68
  • endothelial cell of placenta CL0009092
    CSI 3.84
    rCSI 18.93%
    PRS 80.5
  • enterocyte CL0000584
    CSI 3.82
    rCSI 6.15%
    PRS 71.74
  • naive T cell CL0000898
    CSI 3.8
    rCSI 2.65%
    PRS 84.82
  • pulmonary capillary endothelial cell CL4028001
    CSI 3.8
    rCSI 7.25%
    PRS 82.92
  • luminal epithelial cell of mammary gland CL0002326
    CSI 3.69
    rCSI 6.71%
    PRS 83.59
  • renal beta-intercalated cell CL0002201
    CSI 3.68
    rCSI 8.78%
    PRS 70.61
  • BEST4+ enteroycte CL4030026
    CSI 3.68
    rCSI 4.58%
    PRS 72.06
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 3.56
    rCSI 9.2%
    PRS 65.07
  • activated CD4-positive, alpha-beta T cell CL0000896
    CSI 3.52
    rCSI 3.25%
    PRS 87.36
  • double negative thymocyte CL0002489
    CSI 3.47
    rCSI 2.42%
    PRS 81.74
  • sncg GABAergic cortical interneuron CL4023015
    CSI 3.39
    rCSI 5.45%
    PRS 53.26
  • renal interstitial pericyte CL1001318
    CSI 3.38
    rCSI 9.31%
    PRS 65.17
  • vascular associated smooth muscle cell CL0000359
    CSI 3.36
    rCSI 10.91%
    PRS 69.54
  • sst GABAergic cortical interneuron CL4023017
    CSI 3.33
    rCSI 4.3%
    PRS 52.73
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 3.31
    rCSI 4%
    PRS 79.22
  • midzonal region hepatocyte CL0019028
    CSI 3.31
    rCSI 7.78%
    PRS 72.74
  • brush cell of tracheobronchial tree CL0002075
    CSI 3.27
    rCSI 9.72%
    PRS 79.95
  • alveolar adventitial fibroblast CL4028006
    CSI 3.22
    rCSI 5.08%
    PRS 72.34
  • epithelial cell of lung CL0000082
    CSI 3.16
    rCSI 2.62%
    PRS 70.25
  • renal principal cell CL0005009
    CSI 3.16
    rCSI 8.22%
    PRS 72.76
  • perivascular cell CL4033054
    CSI 3.14
    rCSI 4.29%
    PRS 75.86
  • melanocyte CL0000148
    CSI 3.07
    rCSI 2.27%
    PRS 63.01
  • subcutaneous adipocyte CL0002521
    CSI 3.02
    rCSI 15.49%
    PRS 74.42
  • serous secreting cell of bronchus submucosal gland CL4033005
    CSI 3
    rCSI 17.08%
    PRS 85.06
  • blood vessel endothelial cell CL0000071
    CSI 2.97
    rCSI 6.17%
    PRS 67.28
  • Langerhans cell CL0000453
    CSI 2.95
    rCSI 4.51%
    PRS 84.18
  • goblet cell CL0000160
    CSI 2.92
    rCSI 2.76%
    PRS 69.56
  • microglial cell CL0000129
    CSI 2.88
    rCSI 11.58%
    PRS 73.13
  • contractile cell CL0000183
    CSI 2.87
    rCSI 8.48%
    PRS 69.29
  • lung macrophage CL1001603
    CSI 2.85
    rCSI 6.37%
    PRS 78.22
  • CD4-positive, alpha-beta memory T cell CL0000897
    CSI 2.85
    rCSI 2.04%
    PRS 83.73
  • kidney collecting duct principal cell CL1001431
    CSI 2.77
    rCSI 13.93%
    PRS 68.78
  • parietal epithelial cell CL1000452
    CSI 2.67
    rCSI 7.15%
    PRS 61.17
  • IgA plasma cell CL0000987
    CSI 2.67
    rCSI 2.73%
    PRS 81.69
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.65
    rCSI 3.17%
    PRS 51.2
  • ciliated epithelial cell CL0000067
    CSI 2.56
    rCSI 2.26%
    PRS 58.2
  • kidney interstitial fibroblast CL1000692
    CSI 2.56
    rCSI 13.59%
    PRS 61.3
  • vascular leptomeningeal cell CL4023051
    CSI 2.54
    rCSI 4.45%
    PRS 62.66
  • choroid plexus epithelial cell CL0000706
    CSI 2.53
    rCSI 4.15%
    PRS 59.23
  • epithelial cell of urethra CL1000296
    CSI 0.2
    rCSI 4.3%
    PRS 82.4%
  • ON midget ganglion cell CL4033046
    CSI 0.3
    rCSI 6.0%
    PRS 60.4%
  • ON parasol ganglion cell CL4033052
    CSI 0.4
    rCSI 5.6%
    PRS 61.2%
  • OFF midget ganglion cell CL4033047
    CSI 0.4
    rCSI 8.1%
    PRS 62.0%
  • pancreatic stellate cell CL0002410
    CSI 0.4
    rCSI 2.5%
    PRS 77.1%
  • vein endothelial cell of respiratory system CL4033008
    CSI 0.4
    rCSI 2.9%
    PRS 80.7%
  • peptic cell CL0000155
    CSI 0.6
    rCSI 5.5%
    PRS 84.9%
  • microcirculation associated smooth muscle cell CL0008035
    CSI 0.6
    rCSI 1.6%
    PRS 70.8%
  • amacrine cell CL0000561
    CSI 0.7
    rCSI 1.9%
    PRS 59.4%
  • direct pathway medium spiny neuron CL4023026
    CSI 0.7
    rCSI 17.2%
    PRS 50.5%
  • retinal ganglion cell CL0000740
    CSI 0.7
    rCSI 1.6%
    PRS 56.1%
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.8
    rCSI 18.3%
    PRS 51.1%
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 0.8
    rCSI 1.4%
    PRS 51.4%
  • GABAergic amacrine cell CL4030027
    CSI 0.8
    rCSI 2.9%
    PRS 58.0%
  • stromal cell of ovary CL0002132
    CSI 0.9
    rCSI 2.4%
    PRS 80.5%
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.9
    rCSI 5.3%
    PRS 52.5%
  • Hofbauer cell CL3000001
    CSI 1.0
    rCSI 1.8%
    PRS 80.3%
  • intestinal crypt stem cell of colon CL0009043
    CSI 1.0
    rCSI 7.2%
    PRS 83.7%
  • central nervous system neuron CL2000029
    CSI 1.0
    rCSI 7.2%
    PRS 56.9%
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.0
    rCSI 3.7%
    PRS 49.6%
  • colon macrophage CL0009038
    CSI 1.1
    rCSI 4.8%
    PRS 86.1%
  • fibroblast of breast CL4006000
    CSI 1.1
    rCSI 4.4%
    PRS 79.3%
  • skeletal muscle satellite stem cell CL0008011
    CSI 1.1
    rCSI 4.7%
    PRS 83.4%
  • neural progenitor cell CL0011020
    CSI 1.1
    rCSI 4.7%
    PRS 59.4%
  • type B pancreatic cell CL0000169
    CSI 1.1
    rCSI 2.4%
    PRS 68.9%
  • colon goblet cell CL0009039
    CSI 1.1
    rCSI 2.6%
    PRS 78.0%
  • foveolar cell of stomach CL0002179
    CSI 1.1
    rCSI 2.4%
    PRS 79.3%
  • tracheobronchial smooth muscle cell CL0019019
    CSI 1.1
    rCSI 2.0%
    PRS 77.4%
  • myeloid dendritic cell CL0000782
    CSI 1.2
    rCSI 1.7%
    PRS 85.0%
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 1.2
    rCSI 12.8%
    PRS 67.5%
  • squamous epithelial cell CL0000076
    CSI 1.2
    rCSI 2.9%
    PRS 72.4%
  • club cell CL0000158
    CSI 1.2
    rCSI 1.8%
    PRS 65.1%
  • transit amplifying cell CL0009010
    CSI 1.2
    rCSI 1.9%
    PRS 81.8%
  • duct epithelial cell CL0000068
    CSI 1.3
    rCSI 1.8%
    PRS 75.1%
  • centrilobular region hepatocyte CL0019029
    CSI 1.3
    rCSI 3.4%
    PRS 71.4%
  • luminal cell of prostate epithelium CL0002340
    CSI 1.3
    rCSI 7.0%
    PRS 80.0%
  • dendritic cell, human CL0001056
    CSI 1.3
    rCSI 2.0%
    PRS 79.5%
  • basal cell of prostate epithelium CL0002341
    CSI 1.3
    rCSI 3.9%
    PRS 79.5%
  • mucous neck cell CL0000651
    CSI 1.4
    rCSI 2.0%
    PRS 79.2%
  • basophil CL0000767
    CSI 1.4
    rCSI 2.9%
    PRS 85.2%
  • intestinal tuft cell CL0019032
    CSI 1.4
    rCSI 2.1%
    PRS 74.7%
  • effector memory CD8-positive, alpha-beta T cell CL0000913
    CSI 1.4
    rCSI 1.3%
    PRS 83.7%
  • pancreatic acinar cell CL0002064
    CSI 1.4
    rCSI 1.9%
    PRS 76.6%
  • kidney loop of Henle thick ascending limb epithelial cell CL1001106
    CSI 1.5
    rCSI 12.8%
    PRS 66.0%
  • paneth cell CL0000510
    CSI 1.5
    rCSI 2.2%
    PRS 83.7%
  • paneth cell of epithelium of small intestine CL1000343
    CSI 1.5
    rCSI 4.2%
    PRS 79.9%
  • placental villous trophoblast CL2000060
    CSI 1.5
    rCSI 2.3%
    PRS 69.1%
  • cerebellar granule cell CL0001031
    CSI 1.5
    rCSI 2.2%
    PRS 63.3%
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.6
    rCSI 3.8%
    PRS 49.8%
  • lung secretory cell CL1000272
    CSI 1.6
    rCSI 3.9%
    PRS 69.0%
  • M cell of gut CL0000682
    CSI 1.6
    rCSI 1.7%
    PRS 78.1%
  • intestinal crypt stem cell of small intestine CL0009017
    CSI 1.6
    rCSI 4.3%
    PRS 76.6%
  • fibroblast of cardiac tissue CL0002548
    CSI 1.6
    rCSI 7.7%
    PRS 70.2%
  • respiratory basal cell CL0002633
    CSI 1.6
    rCSI 1.7%
    PRS 75.8%
  • retinal pigment epithelial cell CL0002586
    CSI 1.6
    rCSI 3.2%
    PRS 66.8%
  • alternatively activated macrophage CL0000890
    CSI 1.6
    rCSI 2.0%
    PRS 81.4%
  • pancreatic A cell CL0000171
    CSI 1.6
    rCSI 1.7%
    PRS 73.8%
  • basal-myoepithelial cell of mammary gland CL0002324
    CSI 1.7
    rCSI 3.1%
    PRS 85.0%
  • cardiac endothelial cell CL0010008
    CSI 1.7
    rCSI 6.8%
    PRS 69.6%
  • non-myelinating Schwann cell CL0002376
    CSI 1.7
    rCSI 42.0%
    PRS 65.4%
  • lung ciliated cell CL1000271
    CSI 1.7
    rCSI 2.0%
    PRS 61.2%
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 1.7
    rCSI 3.1%
    PRS 61.6%
  • intestinal epithelial cell CL0002563
    CSI 1.7
    rCSI 1.8%
    PRS 68.0%
  • regular ventricular cardiac myocyte CL0002131
    CSI 1.7
    rCSI 10.8%
    PRS 61.6%
  • extravillous trophoblast CL0008036
    CSI 1.8
    rCSI 2.2%
    PRS 67.2%
  • mucus secreting cell CL0000319
    CSI 1.8
    rCSI 2.8%
    PRS 80.3%
  • acinar cell of salivary gland CL0002623
    CSI 1.8
    rCSI 42.0%
    PRS 85.9%
  • fast muscle cell CL0000190
    CSI 1.8
    rCSI 7.0%
    PRS 69.6%
  • mononuclear phagocyte CL0000113
    CSI 1.8
    rCSI 4.0%
    PRS 74.4%
  • basal cell CL0000646
    CSI 1.9
    rCSI 2.5%
    PRS 70.0%
  • Bergmann glial cell CL0000644
    CSI 1.9
    rCSI 2.6%
    PRS 62.5%
  • multi-ciliated epithelial cell CL0005012
    CSI 1.9
    rCSI 1.9%
    PRS 63.7%
  • pulmonary alveolar type 2 cell CL0002063
    CSI 1.9
    rCSI 3.0%
    PRS 76.6%
  • epithelial cell of proximal tubule CL0002306
    CSI 2.0
    rCSI 4.8%
    PRS 63.3%
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 2.0
    rCSI 7.4%
    PRS 52.0%
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 2.1
    rCSI 3.7%
    PRS 50.5%
  • hepatocyte CL0000182
    CSI 2.1
    rCSI 3.8%
    PRS 69.6%
  • group 3 innate lymphoid cell CL0001071
    CSI 2.1
    rCSI 1.6%
    PRS 76.0%
  • intestine goblet cell CL0019031
    CSI 2.2
    rCSI 1.9%
    PRS 68.1%
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 2.2
    rCSI 1.5%
    PRS 83.4%
  • kidney collecting duct intercalated cell CL1001432
    CSI 2.2
    rCSI 15.7%
    PRS 69.5%
  • pulmonary ionocyte CL0017000
    CSI 2.2
    rCSI 2.7%
    PRS 77.4%
  • retinal cone cell CL0000573
    CSI 2.3
    rCSI 3.6%
    PRS 59.6%
  • stem cell CL0000034
    CSI 2.3
    rCSI 2.2%
    PRS 62.0%
  • lymphoid lineage restricted progenitor cell CL0000838
    CSI 2.4
    rCSI 9.3%
    PRS 88.3%
  • mature microglial cell CL0002629
    CSI 2.4
    rCSI 10.1%
    PRS 69.7%
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.5
    rCSI 5.5%
    PRS 52.0%
  • interneuron CL0000099
    CSI 2.5
    rCSI 4.9%
    PRS 59.4%
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.5
    rCSI 1.9%
    PRS 73.5%
  • rod bipolar cell CL0000751
    CSI 2.5
    rCSI 4.5%
    PRS 63.3%
  • myoepithelial cell CL0000185
    CSI 2.5
    rCSI 6.3%
    PRS 77.1%
  • endocardial cell CL0002350
    CSI 2.5
    rCSI 11.9%
    PRS 68.1%
  • mucosal invariant T cell CL0000940
    CSI 2.5
    rCSI 2.0%
    PRS 80.5%
  • Kupffer cell CL0000091
    CSI 2.5
    rCSI 5.8%
    PRS 70.8%
  • granulocyte CL0000094
    CSI 2.5
    rCSI 3.9%
    PRS 79.3%
  • inflammatory macrophage CL0000863
    CSI 2.5
    rCSI 4.3%
    PRS 89.4%
  • choroid plexus epithelial cell CL0000706
    CSI 2.5
    rCSI 4.2%
    PRS 59.2%
  • vascular leptomeningeal cell CL4023051
    CSI 2.5
    rCSI 4.5%
    PRS 62.7%
  • kidney interstitial fibroblast CL1000692
    CSI 2.6
    rCSI 13.6%
    PRS 61.3%
  • ciliated epithelial cell CL0000067
    CSI 2.6
    rCSI 2.3%
    PRS 58.2%

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 [USP53](/details-gene/54532) (ubiquitin specific peptidase 53) is a protein-coding gene located on chromosome 4q26. It belongs to the deubiquitinating enzyme (DUB) family, although it is considered catalytically inactive due to substitutions in its active site. Functional annotations link it to [protein deubiquitination](/details-go/GO:0016579) processes, likely as a scaffold or regulatory component, and crucially, to the integrity of [bicellular tight junctions](/details-go/GO:0005923). Expression data from the **Overall** context indicates its highest significance in mesenchymal and structural cell types, including [cardiac muscle cell](/details-cell/CL0000746), [chondrocyte](/details-cell/CL0000138), and [keratocyte](/details-cell/CL0002363). Clinically, pathogenic variants in [USP53](/details-gene/54532) are strongly associated with a form of low-gamma-glutamyl transferase (GGT) intrahepatic cholestasis, a pediatric liver disease, underscoring its critical role in maintaining epithelial barrier function ([Link](https://doi.org/10.1038/s41436-018-0288-x), [Link](https://doi.org/10.1111/liv.14422)). ## Cellular Roles and Expression Landscape The expression profile of [USP53](/details-gene/54532) suggests a broad but significant role in a variety of structural and stromal cell populations. **Overall**, the gene shows the highest cell-specific significance in [cardiac muscle cell](/details-cell/CL0000746) (CSI: 39.71), indicating a potentially important function in cardiac tissue homeostasis. Following this, it is a prominent marker in cell types responsible for producing extracellular matrix and maintaining tissue architecture, such as [chondrocyte](/details-cell/CL0000138) (CSI: 29.97) in cartilage, [keratocyte](/details-cell/CL0002363) (CSI: 29.65) in the cornea, and various fibroblast populations like [alveolar type 1 fibroblast cell](/details-cell/CL4028004) (CSI: 23.22). Beyond these core structural cells, [USP53](/details-gene/54532) also demonstrates relevance in other contexts. It has a notable significance score in [adipocyte](/details-cell/CL0000136) (CSI: 27.70) and specialized fat cells like the [epicardial adipocyte](/details-cell/CL1000309) (CSI: 15.57). Furthermore, its expression in [central nervous system macrophage](/details-cell/CL0000878) (CSI: 16.80) and [mature T cell](/details-cell/CL0002419) (CSI: 11.95) points to a secondary role within the immune system. The gene's presence in multiple endothelial cell types, such as [pulmonary artery endothelial cell](/details-cell/CL1001568) and [cerebral cortex endothelial cell](/details-cell/CL1001602), is consistent with its established function in maintaining cell-cell junctions. ## Pathways and Molecular Function [USP53](/details-gene/54532) is annotated with several key biological processes and molecular functions that align with its clinical phenotype. Although classified as a DUB with predicted [cysteine-type deubiquitinase activity](/details-go/GO:0004843), evidence suggests it is catalytically dead and likely functions through [protein binding](/details-go/GO:0005515) to regulate protein complexes. Its most critical function appears to be its involvement in the organization of the [bicellular tight junction](/details-go/GO:0005923), a key component of epithelial and endothelial barriers. This role is directly implicated in the pathogenesis of cholestatic liver disease, where the integrity of bile canaliculi junctions is compromised ([Link](https://doi.org/10.1111/liv.14422)). Additionally, GO annotations suggest a role in sensory processes, including [sensory perception of sound](/details-go/GO:0007605) and a potential involvement in [outer hair cell apoptotic process](/details-go/GO:1905584), hinting at a function in the auditory system that may be distinct from its role in the liver. ## Research Directions The existing data position [USP53](/details-gene/54532) as a critical, non-catalytic regulator of cell junction integrity, with its loss-of-function directly causing human disease. Future research should focus on elucidating the precise molecular mechanisms by which it maintains epithelial barriers and exploring its potential roles in other tissues. **Proposed Hypotheses:** 1. Pathogenic variants in [USP53](/details-gene/54532) cause cholestasis by disrupting its function as a scaffold protein at cholangiocyte tight junctions. This leads to the mislocalization or degradation of essential junctional components (e.g., TJP2, claudins), resulting in "leaky" bile canaliculi and impaired bile flow. 2. The annotated role of [USP53](/details-gene/54532) in the [sensory perception of sound](/details-go/GO:0007605) suggests that it is required for the maintenance of specialized cell-cell junctions, such as those between hair cells and supporting cells in the cochlea. Its absence may lead to progressive hearing loss due to compromised structural integrity and subsequent apoptosis. **Experimental Approach to Test Hypothesis 1:** To determine if [USP53](/details-gene/54532) acts as a junctional scaffold in liver cells, a CRISPR-Cas9 knockout could be generated in a human cholangiocyte cell line (e.g., Mz-ChA-1). The impact on barrier function could be quantified using transepithelial electrical resistance (TEER) measurements on polarized cell monolayers. The localization and abundance of key tight junction proteins (e.g., TJP1, TJP2, CLDN1) would be assessed via immunofluorescence microscopy and western blotting. To identify its direct binding partners, co-immunoprecipitation of wild-type USP53 from these cells followed by mass spectrometry would reveal the protein complex it helps to organize at the junction. **Therapeutic Potential:** Given that [USP53](/details-gene/54532)-related cholestasis is a monogenic, loss-of-function disease, the therapeutic strategy would be focused on functional restoration rather than inhibition. The liver is a primary target for gene therapy, making an AAV-based gene replacement strategy a promising, albeit complex, long-term avenue. This approach would aim to deliver a functional copy of the [USP53](/details-gene/54532) gene specifically to hepatocytes and cholangiocytes to restore tight junction integrity and normalize bile flow. Small molecule chaperones that could stabilize mutant USP53 protein might be an alternative but would depend on the specific nature of the pathogenic variants.

Genular Protein ID: 1994388794

Symbol: UBP53_HUMAN

Name: Inactive ubiquitin carboxyl-terminal hydrolase 53

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14715245

Title: Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases.

PubMed ID: 14715245

DOI: 10.1016/j.bbrc.2003.12.050

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 10718198

Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10718198

DOI: 10.1093/dnares/7.1.65

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: 30250217

Title: Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

PubMed ID: 30250217

DOI: 10.1038/s41436-018-0288-x

PubMed ID: 32124521

Title: Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.

PubMed ID: 32124521

DOI: 10.1111/liv.14422

PubMed ID: 33083013

Title: Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

PubMed ID: 33083013

DOI: 10.1038/s41525-020-00150-z

PubMed ID: 33075013

Title: Cholestasis Due to USP53 Deficiency.

PubMed ID: 33075013

DOI: 10.1097/mpg.0000000000002926

Sequence Information:

  • Length: 1073
  • Mass: 120806
  • Checksum: 2A5E8B0AB4158878
  • Sequence:
  • MAWVKFLRKP GGNLGKVYQP GSMLSLAPTK GLLNEPGQNS CFLNSAVQVL WQLDIFRRSL 
    RVLTGHVCQG DACIFCALKT IFAQFQHSRE KALPSDNIRH ALAESFKDEQ RFQLGLMDDA 
    AECFENMLER IHFHIVPSRD ADMCTSKSCI THQKFAMTLY EQCVCRSCGA SSDPLPFTEF 
    VRYISTTALC NEVERMLERH ERFKPEMFAE LLQAANTTDD YRKCPSNCGQ KIKIRRVLMN 
    CPEIVTIGLV WDSEHSDLTE AVVRNLATHL YLPGLFYRVT DENAKNSELN LVGMICYTSQ 
    HYCAFAFHTK SSKWVFFDDA NVKEIGTRWK DVVSKCIRCH FQPLLLFYAN PDGTAVSTED 
    ALRQVISWSH YKSVAENMGC EKPVIHKSDN LKENGFGDQA KQRENQKFPT DNISSSNRSH 
    SHTGVGKGPA KLSHIDQREK IKDISRECAL KAIEQKNLLS SQRKDLEKGQ RKDLGRHRDL 
    VDEDLSHFQS GSPPAPNGFK QHGNPHLYHS QGKGSYKHDR VVPQSRASAQ IISSSKSQIL 
    APGEKITGKV KSDNGTGYDT DSSQDSRDRG NSCDSSSKSR NRGWKPMRET LNVDSIFSES 
    EKRQHSPRHK PNISNKPKSS KDPSFSNWPK ENPKQKGLMT IYEDEMKQEI GSRSSLESNG 
    KGAEKNKGLV EGKVHGDNWQ MQRTESGYES SDHISNGSTN LDSPVIDGNG TVMDISGVKE 
    TVCFSDQITT SNLNKERGDC TSLQSQHHLE GFRKELRNLE AGYKSHEFHP ESHLQIKNHL 
    IKRSHVHEDN GKLFPSSSLQ IPKDHNAREH IHQSDEQKLE KPNECKFSEW LNIENSERTG 
    LPFHVDNSAS GKRVNSNEPS SLWSSHLRTV GLKPETAPLI QQQNIMDQCY FENSLSTECI 
    IRSASRSDGC QMPKLFCQNL PPPLPPKKYA ITSVPQSEKS ESTPDVKLTE VFKATSHLPK 
    HSLSTASEPS LEVSTHMNDE RHKETFQVRE CFGNTPNCPS SSSTNDFQAN SGAIDAFCQP 
    ELDSISTCPN ETVSLTTYFS VDSCMTDTYR LKYHQRPKLS FPESSGFCNN SLS

Genular Protein ID: 4283010807

Symbol: A0A8J9FKG6_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: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 800
  • Mass: 90412
  • Checksum: A817596569EAA868
  • Sequence:
  • MAWVKFLRKP GGNLGKVYQP GSMLSLAPTK GLLNEPGQNS CFLNSAVQVL WQLDIFRRSL 
    RVLTGHVCQG DACIFCALKT IFAQFQHSRE KALPSDNIRH ALAESFKDEQ RFQLGLMDDA 
    AECFENMLER IHFHIVPSRD ADMCTSKSCI THQKFAMTLY EQCVCRSCGA SSDPLPFTEF 
    VRYISTTALC NEVERMLERH ERFKPEMFAE LLQAANTTDD YRKCPSNCGQ KIKIRRVLMN 
    CPEIVTIGLV WDSEHSDLTE AVVRNLATHL YLPGLFYRVT DENAKNSELN LVGMICYTSQ 
    HYCAFAFHTK SSKWVFFDDA NVKEIGTRWK DVVSKCIRCH FQPLLLFYAN PDGTAVSTED 
    ALRQVISWSH YKSVAENMGC EKPVIHKSDN LKENGFGDQA KQRENQKFPT DNISSSNRSH 
    SHTGVGKGPA KLSHIDQREK IKDISRECAL KAIEQKNLLS SQRKDLEKGQ RKDLGRHRDL 
    VDEDLSHFQS GSPPAPNGFK QHGNPHLYHS QGKGSYKHDR VVPQSRASAQ IISSSKSQIL 
    APGEKITGKV KSDNGTGYDT DSSQDSRDRG NSCDSSSKSR NRGWKPMRET LNVDSIFSES 
    EKRQHSPRHK PNISNKPKSS KDPSFSNWPK ENPKQKGLMT IYEDEMKQEI GSRSSLESNG 
    KGAEKNKGLV EGKVHGDNWQ MQRTESGYES SDHISNGSTN LDSPVIDGNG TVMDISGVKE 
    TVCFSDQITT SNLNKERGDC TSLQSQHHLE DHMYMKTMES YFLHPVYKYP RTIMQENIST 
    SQMNRNLKNR MNANFLSGLI

Genular Protein ID: 1793056332

Symbol: Q9H9I0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 188
  • Mass: 20829
  • Checksum: 36C7DF0E33BF8C05
  • Sequence:
  • MDQCYFENSL STECIIRSAS RSDGCQMPKL FCQNLPPPLP PKKYAITSVP QSEKSESTPG 
    VKLTEVFKAT SHLPKHSLST ASEPSLEVST HMNDERHKET FQVRECFGNT PNCPSSSSTN 
    DFQANSGAID AFCQPELDSI STCPNETVSL TTYFSVDSCM TDTYRLKYHQ RPKLSFPESS 
    GFCNNSLS