Details for: GLB1

Gene ID: 2720

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: GLB1

Ensembl ID: ENSG00000170266

Description: galactosidase beta 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 18.28
    rCSI 16.51%
    PRS 57.5
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 13.03
    rCSI 46.88%
    PRS 41.01
  • retina horizontal cell CL0000745
    CSI 10.03
    rCSI 15.3%
    PRS 57.05
  • colon epithelial cell CL0011108
    CSI 9.72
    rCSI 10.18%
    PRS 57.22
  • paneth cell CL0000510
    CSI 7.79
    rCSI 11.51%
    PRS 76.72
  • group 3 innate lymphoid cell CL0001071
    CSI 7.62
    rCSI 5.72%
    PRS 66.27
  • intestinal tuft cell CL0019032
    CSI 7.34
    rCSI 11.22%
    PRS 64.99
  • ionocyte CL0005006
    CSI 6.13
    rCSI 6.57%
    PRS 60.05
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 5.81
    rCSI 14.12%
    PRS 41.18
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 5.17
    rCSI 19.54%
    PRS 43.4
  • inflammatory macrophage CL0000863
    CSI 4.81
    rCSI 8.22%
    PRS 83.66
  • enterocyte CL0000584
    CSI 4.72
    rCSI 7.61%
    PRS 64.64
  • mesenchymal cell CL0008019
    CSI 4.52
    rCSI 11.49%
    PRS 55.16
  • retinal ganglion cell CL0000740
    CSI 4.52
    rCSI 9.97%
    PRS 46.98
  • mononuclear phagocyte CL0000113
    CSI 4.19
    rCSI 9.23%
    PRS 65.09
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 4.04
    rCSI 3.97%
    PRS 76.59
  • renal alpha-intercalated cell CL0005011
    CSI 3.89
    rCSI 5.2%
    PRS 69.58
  • mesodermal cell CL0000222
    CSI 3.85
    rCSI 4.62%
    PRS 58.75
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 3.78
    rCSI 9.77%
    PRS 55.74
  • lung ciliated cell CL1000271
    CSI 3.71
    rCSI 4.29%
    PRS 50.77
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 3.69
    rCSI 4.46%
    PRS 69.59
  • alveolar adventitial fibroblast CL4028006
    CSI 3.64
    rCSI 5.75%
    PRS 63.01
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 3.57
    rCSI 8.54%
    PRS 48.09
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 3.54
    rCSI 6.26%
    PRS 41.67
  • brush cell of tracheobronchial tree CL0002075
    CSI 3.51
    rCSI 10.41%
    PRS 70.61
  • pancreatic ductal cell CL0002079
    CSI 3.49
    rCSI 6.79%
    PRS 63.67
  • retinal rod cell CL0000604
    CSI 3.35
    rCSI 5.91%
    PRS 57.68
  • blood vessel smooth muscle cell CL0019018
    CSI 3.27
    rCSI 26.57%
    PRS 54.06
  • T follicular helper cell CL0002038
    CSI 3.21
    rCSI 2.4%
    PRS 76.08
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 3.1
    rCSI 18.25%
    PRS 43.86
  • plasmacytoid dendritic cell, human CL0001058
    CSI 3.07
    rCSI 2.14%
    PRS 63.46
  • pancreatic A cell CL0000171
    CSI 3.04
    rCSI 3.18%
    PRS 64.39
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 3.03
    rCSI 7.9%
    PRS 60.56
  • keratocyte CL0002363
    CSI 3.03
    rCSI 7.28%
    PRS 68.61
  • choroid plexus epithelial cell CL0000706
    CSI 3.02
    rCSI 4.94%
    PRS 50.05
  • intestinal epithelial cell CL0002563
    CSI 2.88
    rCSI 3.01%
    PRS 58.9
  • myeloid dendritic cell CL0000782
    CSI 2.81
    rCSI 4.08%
    PRS 76.78
  • lung macrophage CL1001603
    CSI 2.76
    rCSI 6.17%
    PRS 68.56
  • vascular leptomeningeal cell CL4023051
    CSI 2.76
    rCSI 4.84%
    PRS 52.74
  • melanocyte CL0000148
    CSI 2.65
    rCSI 1.96%
    PRS 53.4
  • inhibitory interneuron CL0000498
    CSI 2.65
    rCSI 6.11%
    PRS 49.91
  • unswitched memory B cell CL0000970
    CSI 2.64
    rCSI 2.22%
    PRS 77.92
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 2.61
    rCSI 8.17%
    PRS 46.76
  • direct pathway medium spiny neuron CL4023026
    CSI 2.47
    rCSI 59.19%
    PRS 41.67
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.4
    rCSI 57.95%
    PRS 42.59
  • plasmablast CL0000980
    CSI 2.39
    rCSI 1.88%
    PRS 67.48
  • stem cell CL0000034
    CSI 2.34
    rCSI 2.26%
    PRS 51.29
  • myeloid leukocyte CL0000766
    CSI 2.34
    rCSI 2.16%
    PRS 62.26
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.34
    rCSI 2.91%
    PRS 40.68
  • L6b glutamatergic cortical neuron CL4023038
    CSI 2.33
    rCSI 7.28%
    PRS 44.22
  • goblet cell CL0000160
    CSI 2.33
    rCSI 2.2%
    PRS 60.23
  • CD4-positive helper T cell CL0000492
    CSI 2.31
    rCSI 1.74%
    PRS 74.7
  • pancreatic D cell CL0000173
    CSI 2.31
    rCSI 2.27%
    PRS 63.4
  • secretory cell CL0000151
    CSI 2.31
    rCSI 2.41%
    PRS 61
  • fibroblast of lung CL0002553
    CSI 2.28
    rCSI 2.12%
    PRS 61.28
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.23
    rCSI 2.88%
    PRS 43.84
  • granulocyte monocyte progenitor cell CL0000557
    CSI 2.22
    rCSI 1.92%
    PRS 65.73
  • neural crest cell CL0011012
    CSI 2.16
    rCSI 1.71%
    PRS 47.63
  • promyelocyte CL0000836
    CSI 2.15
    rCSI 3.09%
    PRS 70.32
  • interneuron CL0000099
    CSI 2.13
    rCSI 4.28%
    PRS 49.87
  • alveolar type 1 fibroblast cell CL4028004
    CSI 2.13
    rCSI 2.33%
    PRS 64.54
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 2.12
    rCSI 4.59%
    PRS 48.82
  • ON midget ganglion cell CL4033046
    CSI 2.11
    rCSI 42.93%
    PRS 51.8
  • mucus secreting cell CL0000319
    CSI 2.1
    rCSI 3.34%
    PRS 71.84
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 2.04
    rCSI 1.21%
    PRS 78.16
  • Kupffer cell CL0000091
    CSI 2
    rCSI 4.57%
    PRS 60.57
  • pulmonary ionocyte CL0017000
    CSI 1.98
    rCSI 2.41%
    PRS 68.23
  • hepatic stellate cell CL0000632
    CSI 1.96
    rCSI 7.34%
    PRS 52.83
  • Mueller cell CL0000636
    CSI 1.96
    rCSI 4.46%
    PRS 52.55
  • BEST4+ enteroycte CL4030026
    CSI 1.93
    rCSI 2.4%
    PRS 62.5
  • dopaminergic neuron CL0000700
    CSI 1.92
    rCSI 10.87%
    PRS 45.89
  • lung interstitial macrophage CL4033043
    CSI 1.92
    rCSI 4.3%
    PRS 78.53
  • enteric smooth muscle cell CL0002504
    CSI 1.91
    rCSI 2.73%
    PRS 63.27
  • hematopoietic stem cell CL0000037
    CSI 1.86
    rCSI 1.24%
    PRS 63.87
  • elicited macrophage CL0000861
    CSI 1.86
    rCSI 1.71%
    PRS 69.69
  • VIP GABAergic cortical interneuron CL4023016
    CSI 1.86
    rCSI 2.22%
    PRS 42.4
  • chondrocyte CL0000138
    CSI 1.86
    rCSI 2.95%
    PRS 53.07
  • epithelial cell of lung CL0000082
    CSI 1.82
    rCSI 1.51%
    PRS 59.84
  • respiratory suprabasal cell CL4033048
    CSI 1.81
    rCSI 2.32%
    PRS 65.56
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 1.81
    rCSI 2.57%
    PRS 56.97
  • M cell of gut CL0000682
    CSI 1.81
    rCSI 1.92%
    PRS 71.21
  • OFF midget ganglion cell CL4033047
    CSI 1.8
    rCSI 36.57%
    PRS 53.06
  • multi-ciliated epithelial cell CL0005012
    CSI 1.74
    rCSI 1.74%
    PRS 53.98
  • syncytiotrophoblast cell CL0000525
    CSI 1.69
    rCSI 4.86%
    PRS 74.33
  • epithelial cell of lower respiratory tract CL0002632
    CSI 1.61
    rCSI 1.25%
    PRS 62.44
  • club cell CL0000158
    CSI 1.61
    rCSI 2.35%
    PRS 56.9
  • cerebellar granule cell CL0001031
    CSI 1.6
    rCSI 2.35%
    PRS 54.46
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 1.6
    rCSI 2.09%
    PRS 74.46
  • glioblast CL0000030
    CSI 1.59
    rCSI 2.54%
    PRS 53.44
  • retinal pigment epithelial cell CL0002586
    CSI 1.55
    rCSI 3.08%
    PRS 58.57
  • retinal bipolar neuron CL0000748
    CSI 1.54
    rCSI 2.89%
    PRS 49.13
  • mucous neck cell CL0000651
    CSI 1.53
    rCSI 2.21%
    PRS 71.61
  • ependymal cell CL0000065
    CSI 1.53
    rCSI 3.1%
    PRS 40.22
  • rod bipolar cell CL0000751
    CSI 1.5
    rCSI 2.7%
    PRS 53.79
  • Langerhans cell CL0000453
    CSI 1.5
    rCSI 2.29%
    PRS 76.45
  • renal beta-intercalated cell CL0002201
    CSI 1.46
    rCSI 3.48%
    PRS 61.83
  • pancreatic acinar cell CL0002064
    CSI 1.45
    rCSI 1.93%
    PRS 67.27
  • cerebral cortex endothelial cell CL1001602
    CSI 1.42
    rCSI 2.46%
    PRS 50.87
  • epithelial cell of proximal tubule CL0002306
    CSI 1.4
    rCSI 3.42%
    PRS 54.42
  • placental villous trophoblast CL2000060
    CSI 1.38
    rCSI 2.12%
    PRS 58.86
  • medium spiny neuron CL1001474
    CSI 0.2
    rCSI 1.9%
    PRS 48.2%
  • mesenchymal stem cell CL0000134
    CSI 0.2
    rCSI 2.4%
    PRS 73.4%
  • GABAergic interneuron CL0011005
    CSI 0.3
    rCSI 3.9%
    PRS 65.6%
  • erythroid progenitor cell CL0000038
    CSI 0.4
    rCSI 2.2%
    PRS 69.9%
  • central nervous system neuron CL2000029
    CSI 0.4
    rCSI 3.1%
    PRS 47.5%
  • podocyte CL0000653
    CSI 0.6
    rCSI 2.5%
    PRS 60.3%
  • helper T cell CL0000912
    CSI 0.6
    rCSI 0.9%
    PRS 66.3%
  • erythroblast CL0000765
    CSI 0.6
    rCSI 1.7%
    PRS 72.3%
  • parietal epithelial cell CL1000452
    CSI 0.6
    rCSI 1.7%
    PRS 51.8%
  • pancreatic PP cell CL0002275
    CSI 0.6
    rCSI 2.5%
    PRS 73.7%
  • amacrine cell CL0000561
    CSI 0.7
    rCSI 1.9%
    PRS 50.4%
  • paneth cell of epithelium of small intestine CL1000343
    CSI 0.7
    rCSI 1.9%
    PRS 72.3%
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 0.7
    rCSI 2.2%
    PRS 47.7%
  • type B pancreatic cell CL0000169
    CSI 0.7
    rCSI 1.6%
    PRS 58.7%
  • ON parasol ganglion cell CL4033052
    CSI 0.8
    rCSI 10.8%
    PRS 52.0%
  • renal interstitial pericyte CL1001318
    CSI 0.8
    rCSI 2.2%
    PRS 56.5%
  • kidney connecting tubule epithelial cell CL1000768
    CSI 0.8
    rCSI 2.0%
    PRS 50.2%
  • dendritic cell, human CL0001056
    CSI 0.8
    rCSI 1.2%
    PRS 69.8%
  • sncg GABAergic cortical interneuron CL4023015
    CSI 0.8
    rCSI 1.4%
    PRS 44.7%
  • pancreatic epsilon cell CL0005019
    CSI 0.9
    rCSI 4.1%
    PRS 77.9%
  • Hofbauer cell CL3000001
    CSI 0.9
    rCSI 1.7%
    PRS 71.4%
  • GABAergic amacrine cell CL4030027
    CSI 0.9
    rCSI 3.1%
    PRS 49.8%
  • intermediate monocyte CL0002393
    CSI 0.9
    rCSI 1.4%
    PRS 64.9%
  • pancreatic stellate cell CL0002410
    CSI 1.0
    rCSI 5.9%
    PRS 70.0%
  • lung secretory cell CL1000272
    CSI 1.0
    rCSI 2.5%
    PRS 59.1%
  • acinar cell CL0000622
    CSI 1.0
    rCSI 1.5%
    PRS 72.4%
  • lung neuroendocrine cell CL1000223
    CSI 1.1
    rCSI 1.6%
    PRS 66.1%
  • promonocyte CL0000559
    CSI 1.1
    rCSI 1.8%
    PRS 69.6%
  • cardiac muscle cell CL0000746
    CSI 1.1
    rCSI 1.6%
    PRS 50.6%
  • colonocyte CL1000347
    CSI 1.1
    rCSI 1.6%
    PRS 64.7%
  • alternatively activated macrophage CL0000890
    CSI 1.1
    rCSI 1.4%
    PRS 72.8%
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI 1.1
    rCSI 3.2%
    PRS 80.6%
  • alveolar macrophage CL0000583
    CSI 1.1
    rCSI 1.8%
    PRS 66.1%
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.1
    rCSI 1.9%
    PRS 42.6%
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 1.2
    rCSI 0.9%
    PRS 61.2%
  • erythrocyte CL0000232
    CSI 1.2
    rCSI 2.6%
    PRS 64.9%
  • platelet CL0000233
    CSI 1.2
    rCSI 4.8%
    PRS 64.5%
  • transit amplifying cell of colon CL0009011
    CSI 1.2
    rCSI 1.4%
    PRS 63.0%
  • glycinergic amacrine cell CL4030028
    CSI 1.2
    rCSI 3.1%
    PRS 58.4%
  • interstitial cell of Cajal CL0002088
    CSI 1.2
    rCSI 1.5%
    PRS 67.4%
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.2
    rCSI 2.7%
    PRS 43.3%
  • peripheral nervous system neuron CL2000032
    CSI 1.2
    rCSI 1.7%
    PRS 52.5%
  • regular ventricular cardiac myocyte CL0002131
    CSI 1.2
    rCSI 7.7%
    PRS 52.7%
  • blood vessel endothelial cell CL0000071
    CSI 1.3
    rCSI 2.6%
    PRS 58.0%
  • extravillous trophoblast CL0008036
    CSI 1.3
    rCSI 1.6%
    PRS 57.1%
  • common myeloid progenitor CL0000049
    CSI 1.3
    rCSI 1.1%
    PRS 62.1%
  • hepatocyte CL0000182
    CSI 1.3
    rCSI 2.4%
    PRS 59.9%
  • ciliated epithelial cell CL0000067
    CSI 1.3
    rCSI 1.2%
    PRS 48.6%
  • duct epithelial cell CL0000068
    CSI 1.3
    rCSI 2.0%
    PRS 65.3%
  • placental villous trophoblast CL2000060
    CSI 1.4
    rCSI 2.1%
    PRS 58.9%
  • epithelial cell of proximal tubule CL0002306
    CSI 1.4
    rCSI 3.4%
    PRS 54.4%
  • cerebral cortex endothelial cell CL1001602
    CSI 1.4
    rCSI 2.5%
    PRS 50.9%
  • pancreatic acinar cell CL0002064
    CSI 1.5
    rCSI 1.9%
    PRS 67.3%
  • renal beta-intercalated cell CL0002201
    CSI 1.5
    rCSI 3.5%
    PRS 61.8%
  • Langerhans cell CL0000453
    CSI 1.5
    rCSI 2.3%
    PRS 76.5%
  • rod bipolar cell CL0000751
    CSI 1.5
    rCSI 2.7%
    PRS 53.8%
  • ependymal cell CL0000065
    CSI 1.5
    rCSI 3.1%
    PRS 40.2%
  • mucous neck cell CL0000651
    CSI 1.5
    rCSI 2.2%
    PRS 71.6%
  • retinal bipolar neuron CL0000748
    CSI 1.5
    rCSI 2.9%
    PRS 49.1%
  • retinal pigment epithelial cell CL0002586
    CSI 1.6
    rCSI 3.1%
    PRS 58.6%
  • glioblast CL0000030
    CSI 1.6
    rCSI 2.5%
    PRS 53.4%
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 1.6
    rCSI 2.1%
    PRS 74.5%
  • cerebellar granule cell CL0001031
    CSI 1.6
    rCSI 2.4%
    PRS 54.5%
  • club cell CL0000158
    CSI 1.6
    rCSI 2.4%
    PRS 56.9%
  • epithelial cell of lower respiratory tract CL0002632
    CSI 1.6
    rCSI 1.3%
    PRS 62.4%
  • syncytiotrophoblast cell CL0000525
    CSI 1.7
    rCSI 4.9%
    PRS 74.3%
  • multi-ciliated epithelial cell CL0005012
    CSI 1.7
    rCSI 1.7%
    PRS 54.0%
  • OFF midget ganglion cell CL4033047
    CSI 1.8
    rCSI 36.6%
    PRS 53.1%
  • M cell of gut CL0000682
    CSI 1.8
    rCSI 1.9%
    PRS 71.2%
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 1.8
    rCSI 2.6%
    PRS 57.0%
  • respiratory suprabasal cell CL4033048
    CSI 1.8
    rCSI 2.3%
    PRS 65.6%
  • epithelial cell of lung CL0000082
    CSI 1.8
    rCSI 1.5%
    PRS 59.8%
  • chondrocyte CL0000138
    CSI 1.9
    rCSI 3.0%
    PRS 53.1%
  • VIP GABAergic cortical interneuron CL4023016
    CSI 1.9
    rCSI 2.2%
    PRS 42.4%
  • elicited macrophage CL0000861
    CSI 1.9
    rCSI 1.7%
    PRS 69.7%
  • hematopoietic stem cell CL0000037
    CSI 1.9
    rCSI 1.2%
    PRS 63.9%
  • enteric smooth muscle cell CL0002504
    CSI 1.9
    rCSI 2.7%
    PRS 63.3%
  • lung interstitial macrophage CL4033043
    CSI 1.9
    rCSI 4.3%
    PRS 78.5%
  • dopaminergic neuron CL0000700
    CSI 1.9
    rCSI 10.9%
    PRS 45.9%
  • BEST4+ enteroycte CL4030026
    CSI 1.9
    rCSI 2.4%
    PRS 62.5%
  • Mueller cell CL0000636
    CSI 2.0
    rCSI 4.5%
    PRS 52.6%
  • hepatic stellate cell CL0000632
    CSI 2.0
    rCSI 7.3%
    PRS 52.8%
  • pulmonary ionocyte CL0017000
    CSI 2.0
    rCSI 2.4%
    PRS 68.2%
  • Kupffer cell CL0000091
    CSI 2.0
    rCSI 4.6%
    PRS 60.6%
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 2.0
    rCSI 1.2%
    PRS 78.2%
  • mucus secreting cell CL0000319
    CSI 2.1
    rCSI 3.3%
    PRS 71.8%
  • ON midget ganglion cell CL4033046
    CSI 2.1
    rCSI 42.9%
    PRS 51.8%
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 2.1
    rCSI 4.6%
    PRS 48.8%
  • alveolar type 1 fibroblast cell CL4028004
    CSI 2.1
    rCSI 2.3%
    PRS 64.5%
  • interneuron CL0000099
    CSI 2.1
    rCSI 4.3%
    PRS 49.9%
  • promyelocyte CL0000836
    CSI 2.2
    rCSI 3.1%
    PRS 70.3%
  • neural crest cell CL0011012
    CSI 2.2
    rCSI 1.7%
    PRS 47.6%
  • granulocyte monocyte progenitor cell CL0000557
    CSI 2.2
    rCSI 1.9%
    PRS 65.7%
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.2
    rCSI 2.9%
    PRS 43.8%
  • fibroblast of lung CL0002553
    CSI 2.3
    rCSI 2.1%
    PRS 61.3%
  • secretory cell CL0000151
    CSI 2.3
    rCSI 2.4%
    PRS 61.0%
  • pancreatic D cell CL0000173
    CSI 2.3
    rCSI 2.3%
    PRS 63.4%
  • CD4-positive helper T cell CL0000492
    CSI 2.3
    rCSI 1.7%
    PRS 74.7%
  • goblet cell CL0000160
    CSI 2.3
    rCSI 2.2%
    PRS 60.2%
  • L6b glutamatergic cortical neuron CL4023038
    CSI 2.3
    rCSI 7.3%
    PRS 44.2%

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 [GLB1](/details-gene/2720) is a protein-coding gene located on human chromosome 3p22.3 that encodes the enzyme beta-galactosidase. This is a crucial lysosomal hydrolase responsible for the catabolism of various beta-linked galactosides, including GM1 gangliosides, keratan sulfate, and lactosylceramide [Link](https://pubmed.ncbi.nlm.nih.gov/3143362/). Mutations in [GLB1](/details-gene/2720) lead to a deficiency in this enzyme, causing two well-characterized lysosomal storage disorders: GM1-gangliosidosis ([230500](https://omim.org/entry/230500)), a neurodegenerative condition, and Morquio B disease ([253010](https://omim.org/entry/253010)), a systemic skeletal dysplasia [Link](https://doi.org/10.1016/s0925-4439(99)00075-7). Notably, alternative splicing of [GLB1](/details-gene/2720) mRNA can also produce an enzymatically inactive beta-galactosidase-related protein that functions as a 67-kD elastin/laminin-binding protein, implicating it in extracellular matrix interactions [Link](https://doi.org/10.1172/jci116280). Reflecting its fundamental role in cellular metabolism, [GLB1](/details-gene/2720) is expressed across a wide range of cell types, with particularly high significance in [megakaryocyte-erythroid progenitor cells](/details-cell/CL0000050), various neuronal subtypes, and specialized epithelial cells. ## Cellular Roles and Expression Landscape The expression profile of [GLB1](/details-gene/2720) highlights its foundational importance in the metabolic processes of diverse and highly specialized cell types. **Overall**, the gene shows its highest significance in the hematopoietic lineage, specifically within [megakaryocyte-erythroid progenitor cells](/details-cell/CL0000050), suggesting a critical role in the development and maturation of red blood cells and platelets. A prominent feature of [GLB1](/details-gene/2720) expression is its high significance within the central nervous system. It is a key marker for neuronal subtypes including [L5 extratelencephalic projecting glutamatergic cortical neurons](/details-cell/CL4023041) and [retina horizontal cells](/details-cell/CL0000745), which is consistent with the severe neurological phenotypes observed in GM1-gangliosidosis. This indicates that proper glycosphingolipid turnover is indispensable for neuronal function and survival. Furthermore, [GLB1](/details-gene/2720) is highly significant in various epithelial and secretory cells of the gastrointestinal tract, including [colon epithelial cells](/details-cell/CL0011108), [paneth cells](/details-cell/CL0000510), [intestinal tuft cells](/details-cell/CL0019032), and [enterocytes](/details-cell/CL0000584). Its expression in these cells, which are involved in nutrient absorption, mucosal defense, and gut homeostasis, suggests a role in processing dietary components and maintaining the integrity of the intestinal barrier. The gene's activity is also notable in immune cells such as [group 3 innate lymphoid cells](/details-cell/CL0001071) and [inflammatory macrophages](/details-cell/CL0000863), implying a function in immune cell metabolism and response. ## Pathways and Molecular Function The molecular function of [GLB1](/details-gene/2720) is centered on its [beta-galactosidase activity](/details-ontology/GO0004565), which places it at the heart of several critical catabolic pathways. The gene product is primarily localized to the [lysosomal lumen](/details-ontology/GO0043202), where it participates in the breakdown of complex carbohydrates and lipids. Consistent with its role in lysosomal storage diseases, [GLB1](/details-gene/2720) is a key enzyme in [Glycosphingolipid catabolism](/details-pathway/R-HSA-9840310) and [Keratan sulfate degradation](/details-pathway/R-HSA-2022857). Its dysfunction directly underlies the pathology of [Mps iv - morquio syndrome b](/details-pathway/R-HSA-2206308) and GM1-gangliosidosis, which are classified as [Diseases of carbohydrate metabolism](/details-pathway/R-HSA-5663084). Beyond its well-known roles, functional annotations also link [GLB1](/details-gene/2720) to broader processes such as [Neutrophil degranulation](/details-pathway/R-HSA-6798695), supported by its presence in the [azurophil granule lumen](/details-ontology/GO0035578), suggesting a function in the innate immune response. The alternative splice variant, which lacks enzymatic activity but exhibits [galactoside binding](/details-ontology/GO0016936), functions as an elastin receptor, participating in processes distinct from lysosomal catabolism, likely involving cell-matrix interactions and elastic fiber assembly [Link](https://doi.org/10.1086/302968). ## Research Directions The widespread yet specific expression pattern of [GLB1](/details-gene/2720) across metabolically active and specialized cell types offers several avenues for future investigation. Its well-established role in monogenic diseases provides a strong foundation for exploring its subtler functions in normal physiology and complex disorders. Based on the available data, several testable hypotheses can be proposed: 1. The high significance of [GLB1](/details-gene/2720) in diverse neuronal populations, including cortical neurons and retinal cells, suggests that cell-type-specific glycosphingolipid profiles may render certain neurons particularly vulnerable to [GLB1](/details-gene/2720) deficiency, thus contributing to the specific neurological progression of GM1-gangliosidosis. 2. Given its prominent expression in specialized intestinal cells like [paneth cells](/details-cell/CL0000510) and [intestinal tuft cells](/details-cell/CL0019032), [GLB1](/details-gene/2720) may play a role in modulating gut homeostasis, potentially by influencing the glycosylation status of mucins or by processing bacterial cell wall components, thereby shaping the gut microbiome and mucosal immune tone. To test the second hypothesis regarding its role in the gut, a compelling experimental approach would be to generate a conditional knockout mouse model with `Glb1` specifically deleted in intestinal epithelial cells (e.g., using a Villin-Cre driver). Subsequent analysis would involve comparing these mice to wild-type littermates through 16S rRNA gene sequencing of fecal content to profile microbial community structure. Furthermore, single-cell RNA sequencing of the intestinal epithelium could be employed to investigate compensatory metabolic shifts and alterations in immune signaling pathways in the absence of [GLB1](/details-gene/2720). **Therapeutic Potential:** As the basis of monogenic lysosomal storage diseases, [GLB1](/details-gene/2720) is a classic target for therapeutic intervention aimed at functional restoration, not inhibition. Enzyme replacement therapy (ERT) is a primary strategy for systemic manifestations of Morquio B disease. However, for the neurodegenerative symptoms of GM1-gangliosidosis, the major challenge is the delivery of the enzyme across the blood-brain barrier. Therefore, gene therapy approaches using adeno-associated virus (AAV) vectors to deliver a functional copy of the [GLB1](/details-gene/2720) gene directly to the central nervous system represent a highly promising therapeutic avenue currently under investigation.

Genular Protein ID: 2228774876

Symbol: BGAL_HUMAN

Name: Beta-galactosidase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3143362

Title: Cloning, sequencing, and expression of cDNA for human beta-galactosidase.

PubMed ID: 3143362

DOI: 10.1016/s0006-291x(88)80038-x

PubMed ID: 2511208

Title: Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.

PubMed ID: 2511208

DOI: 10.1016/s0021-9258(19)47114-7

PubMed ID: 2111707

Title: Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.

PubMed ID: 2111707

DOI: 10.1089/dna.1990.9.119

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 3084261

Title: Immunoelectron microscopical localization of lysosomal beta-galactosidase and its precursor forms in normal and mutant human fibroblasts.

PubMed ID: 3084261

PubMed ID: 8383699

Title: The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase.

PubMed ID: 8383699

DOI: 10.1172/jci116280

PubMed ID: 8200356

Title: Hydrolysis of lactosylceramide by human galactosylceramidase and GM1-beta-galactosidase in a detergent-free system and its stimulation by sphingolipid activator proteins, sap-B and sap-C. Activator proteins stimulate lactosylceramide hydrolysis.

PubMed ID: 8200356

DOI: 10.1111/j.1432-1033.1994.tb18844.x

PubMed ID: 8922281

Title: Biological roles of the non-integrin elastin/laminin receptor.

PubMed ID: 8922281

PubMed ID: 9497360

Title: The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein.

PubMed ID: 9497360

DOI: 10.1074/jbc.273.11.6319

PubMed ID: 10571006

Title: Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.

PubMed ID: 10571006

DOI: 10.1016/s0925-4439(99)00075-7

PubMed ID: 10841810

Title: Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

PubMed ID: 10841810

DOI: 10.1086/302968

PubMed ID: 16263699

Title: Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.

PubMed ID: 16263699

DOI: 10.1074/mcp.m500324-mcp200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 22128166

Title: Crystal structure of human beta-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

PubMed ID: 22128166

DOI: 10.1074/jbc.m111.293795

PubMed ID: 24737316

Title: Structural basis of pharmacological chaperoning for human beta-galactosidase.

PubMed ID: 24737316

DOI: 10.1074/jbc.m113.529529

PubMed ID: 1928092

Title: Human beta-galactosidase gene mutations in morquio B disease.

PubMed ID: 1928092

PubMed ID: 1909089

Title: GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

PubMed ID: 1909089

PubMed ID: 1907800

Title: Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

PubMed ID: 1907800

PubMed ID: 1487238

Title: A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.

PubMed ID: 1487238

DOI: 10.1007/bf00220071

PubMed ID: 8213816

Title: Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

PubMed ID: 8213816

PubMed ID: 8198123

Title: Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

PubMed ID: 8198123

PubMed ID: 7586649

Title: Clinical and molecular analysis of a Japanese boy with Morquio B disease.

PubMed ID: 7586649

DOI: 10.1111/j.1399-0004.1995.tb04065.x

PubMed ID: 9203065

Title: Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.

PubMed ID: 9203065

DOI: 10.1177/088307389701200404

PubMed ID: 12393180

Title: Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.

PubMed ID: 12393180

DOI: 10.1016/s0925-4439(02)00172-2

PubMed ID: 10338095

Title: Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.

PubMed ID: 10338095

DOI: 10.1002/(sici)1098-1004(1999)13:5<401::aid-humu9>3.0.co;2-n

PubMed ID: 10839995

Title: Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.

PubMed ID: 10839995

DOI: 10.1042/bj3480621

PubMed ID: 10737981

Title: Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

PubMed ID: 10737981

DOI: 10.1002/(sici)1098-1004(200004)15:4<354::aid-humu8>3.0.co;2-l

PubMed ID: 11511921

Title: Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

PubMed ID: 11511921

DOI: 10.1007/s004390100570

PubMed ID: 12644936

Title: Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

PubMed ID: 12644936

DOI: 10.1007/s00439-003-0930-8

PubMed ID: 15365997

Title: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

PubMed ID: 15365997

DOI: 10.1002/humu.9279

PubMed ID: 15714521

Title: Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

PubMed ID: 15714521

DOI: 10.1002/humu.20147

PubMed ID: 15791924

Title: Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.

PubMed ID: 15791924

DOI: 10.1177/08830738050200010901

PubMed ID: 15986423

Title: Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

PubMed ID: 15986423

DOI: 10.1002/mds.20593

PubMed ID: 16941474

Title: Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among Gypsies.

PubMed ID: 16941474

DOI: 10.1002/humu.9451

PubMed ID: 16538002

Title: Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.

PubMed ID: 16538002

DOI: 10.2152/jmi.53.103

PubMed ID: 17309651

Title: Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PubMed ID: 17309651

DOI: 10.1111/j.1399-0004.2007.00767.x

PubMed ID: 17661814

Title: Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.

PubMed ID: 17661814

DOI: 10.1111/j.1399-0004.2007.00843.x

PubMed ID: 17664528

Title: Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

PubMed ID: 17664528

DOI: 10.1194/jlr.m700308-jlr200

PubMed ID: 19472408

Title: GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PubMed ID: 19472408

DOI: 10.1002/humu.21031

PubMed ID: 25936995

Title: Recurrent and novel GLB1 mutations in India.

PubMed ID: 25936995

DOI: 10.1016/j.gene.2015.04.078

Sequence Information:

  • Length: 677
  • Mass: 76075
  • Checksum: 74421586B1BCFECA
  • Sequence:
  • MPGFLVRILP LLLVLLLLGP TRGLRNATQR MFEIDYSRDS FLKDGQPFRY ISGSIHYSRV 
    PRFYWKDRLL KMKMAGLNAI QTYVPWNFHE PWPGQYQFSE DHDVEYFLRL AHELGLLVIL 
    RPGPYICAEW EMGGLPAWLL EKESILLRSS DPDYLAAVDK WLGVLLPKMK PLLYQNGGPV 
    ITVQVENEYG SYFACDFDYL RFLQKRFRHH LGDDVVLFTT DGAHKTFLKC GALQGLYTTV 
    DFGTGSNITD AFLSQRKCEP KGPLINSEFY TGWLDHWGQP HSTIKTEAVA SSLYDILARG 
    ASVNLYMFIG GTNFAYWNGA NSPYAAQPTS YDYDAPLSEA GDLTEKYFAL RNIIQKFEKV 
    PEGPIPPSTP KFAYGKVTLE KLKTVGAALD ILCPSGPIKS LYPLTFIQVK QHYGFVLYRT 
    TLPQDCSNPA PLSSPLNGVH DRAYVAVDGI PQGVLERNNV ITLNITGKAG ATLDLLVENM 
    GRVNYGAYIN DFKGLVSNLT LSSNILTDWT IFPLDTEDAV RSHLGGWGHR DSGHHDEAWA 
    HNSSNYTLPA FYMGNFSIPS GIPDLPQDTF IQFPGWTKGQ VWINGFNLGR YWPARGPQLT 
    LFVPQHILMT SAPNTITVLE LEWAPCSSDD PELCAVTFVD RPVIGSSVTY DHPSKPVEKR 
    LMPPPPQKNK DSWLDHV

Genular Protein ID: 342698490

Symbol: B7Z6Q5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 725
  • Mass: 81803
  • Checksum: C038C3B616B1EAA2
  • Sequence:
  • MPGFLVRILL LLLVLLLLGP TRGLRSRFLP WAFHLPRQAP KSQLPLHKRG TKTAPNEHAS 
    SNRSGRRRRR QQWNATQRMF EIDYSRDSFL KDGQPFRYIS GSIHYSRVPR FYWKDRLLKM 
    KMAGLNAIQT YVPWNFHEPW PGQYQFSEDH DVEYFLRLAH ELGLLVILRP GPYICAEWEM 
    GGLPAWLLEK ESILLRSSDP DYLAAVDKWL GVLLPKMKPL LYQNGGPVIT VQVENEYGSY 
    FACDFDYLRF LQKRFRHHLG DDVVLFTTDG AHKTFLKCGA LQGLYTTVDF GTGSNITDAF 
    LSQRKCEPKG PLINSEFYTG WLDHWGQPHS TIKTEAVASS LYDILARGAS VNLYMFIGGT 
    NFAYWNGANS PYAAQPTSYD YDAPLSEAGD LTEKYFALRN IIQKFEKVPE GPIPPSTPKF 
    AYGKVTLEKL KTVGAALDIL CPSGPIKSLY PLTFIQVKQH YGFVLYRTTL PQDCSNPAPL 
    SSPLNGVHDR AYVAVDGIPQ GVLERNNVIT LNITGKAGAT LDLLVENMGR VNYGAYINDF 
    KGLVSNLTLS SNILTDWTIF PLDTEDAVRS HLGGWGHRDS GHHDEAWAHN SSNYTLPAFY 
    MGNFSIPSGI PDLPQDTFIQ FPGWTKGQVW INGFNLGRYW PARGPQLTLF VPQHILMTSA 
    PNTITVLELE WAPCSSDDPE LCAVTFVDRP VIGSSVTYDH PSKPVEKRLM PPPPQKNKDS 
    WLDHV