Details for: HPRT1

Gene ID: 3251

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: HPRT1

Ensembl ID: ENSG00000165704

Description: hypoxanthine phosphoribosyltransferase 1

Cell Significance Landscape

Associated with

Significant Cells

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

  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 34.86
    rCSI 31.48%
    PRS 62.19
  • common myeloid progenitor CL0000049
    CSI 18.98
    rCSI 15.35%
    PRS 66.86
  • group 3 innate lymphoid cell CL0001071
    CSI 16.87
    rCSI 12.67%
    PRS 70.93
  • retinal rod cell CL0000604
    CSI 15.84
    rCSI 27.92%
    PRS 61.83
  • common dendritic progenitor CL0001029
    CSI 15.36
    rCSI 19.28%
    PRS 75.64
  • large pre-B-II cell CL0000957
    CSI 12.06
    rCSI 34.43%
    PRS 75.81
  • epithelial cell of lower respiratory tract CL0002632
    CSI 10.75
    rCSI 8.34%
    PRS 67.93
  • megakaryocyte CL0000556
    CSI 9.22
    rCSI 40.02%
    PRS 76.59
  • double negative thymocyte CL0002489
    CSI 8.7
    rCSI 6.05%
    PRS 76.48
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 8.43
    rCSI 20.48%
    PRS 45.14
  • dendritic cell, human CL0001056
    CSI 7.86
    rCSI 12.08%
    PRS 74.42
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 7.21
    rCSI 17.25%
    PRS 52.27
  • naive T cell CL0000898
    CSI 6.99
    rCSI 4.87%
    PRS 80.43
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 6.68
    rCSI 24.05%
    PRS 44.97
  • T-helper 17 cell CL0000899
    CSI 6.53
    rCSI 5.19%
    PRS 85.65
  • fraction A pre-pro B cell CL0002045
    CSI 6.35
    rCSI 7.27%
    PRS 82.56
  • primitive red blood cell CL0002355
    CSI 6.2
    rCSI 33.43%
    PRS 76.4
  • erythrocyte CL0000232
    CSI 6.07
    rCSI 13.76%
    PRS 68.54
  • astrocyte of the cerebral cortex CL0002605
    CSI 5.81
    rCSI 13.03%
    PRS 47.33
  • L6b glutamatergic cortical neuron CL4023038
    CSI 5.35
    rCSI 16.71%
    PRS 48.35
  • cerebral cortex endothelial cell CL1001602
    CSI 5.1
    rCSI 8.83%
    PRS 55.48
  • myeloid leukocyte CL0000766
    CSI 5.1
    rCSI 4.7%
    PRS 66.88
  • hematopoietic stem cell CL0000037
    CSI 5.09
    rCSI 3.38%
    PRS 68.32
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 5.04
    rCSI 29.67%
    PRS 47.82
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 4.77
    rCSI 4.86%
    PRS 77.41
  • granulocyte CL0000094
    CSI 4.75
    rCSI 7.25%
    PRS 74.47
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 4.21
    rCSI 5.08%
    PRS 74.11
  • pancreatic A cell CL0000171
    CSI 4.07
    rCSI 4.26%
    PRS 68.72
  • CD4-positive, alpha-beta thymocyte CL0000810
    CSI 3.99
    rCSI 3.2%
    PRS 84.25
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 3.85
    rCSI 3.78%
    PRS 80.85
  • erythroblast CL0000765
    CSI 3.82
    rCSI 10.13%
    PRS 75.69
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI 3.77
    rCSI 10.8%
    PRS 84.47
  • pro-B cell CL0000826
    CSI 3.75
    rCSI 3.1%
    PRS 67.63
  • pancreatic D cell CL0000173
    CSI 3.73
    rCSI 3.67%
    PRS 67.99
  • erythroid progenitor cell CL0000038
    CSI 3.71
    rCSI 21.24%
    PRS 73.76
  • radial glial cell CL0000681
    CSI 3.57
    rCSI 4.95%
    PRS 63.71
  • effector CD8-positive, alpha-beta T cell CL0001050
    CSI 3.56
    rCSI 2.71%
    PRS 78.34
  • sncg GABAergic cortical interneuron CL4023015
    CSI 3.41
    rCSI 5.48%
    PRS 48.6
  • colon epithelial cell CL0011108
    CSI 3.38
    rCSI 3.54%
    PRS 61.67
  • perivascular cell CL4033054
    CSI 3.37
    rCSI 4.61%
    PRS 71.06
  • enteroendocrine cell CL0000164
    CSI 3.22
    rCSI 4.4%
    PRS 66.55
  • early lymphoid progenitor CL0000936
    CSI 3.15
    rCSI 2.76%
    PRS 70.7
  • fallopian tube secretory epithelial cell CL4030006
    CSI 3.13
    rCSI 3.02%
    PRS 65.04
  • kidney connecting tubule epithelial cell CL1000768
    CSI 3.13
    rCSI 7.93%
    PRS 54.73
  • alveolar adventitial fibroblast CL4028006
    CSI 3.01
    rCSI 4.75%
    PRS 67.79
  • myofibroblast cell CL0000186
    CSI 2.98
    rCSI 4.13%
    PRS 65.61
  • eye photoreceptor cell CL0000287
    CSI 2.97
    rCSI 33.39%
    PRS 81.49
  • promyelocyte CL0000836
    CSI 2.95
    rCSI 4.26%
    PRS 74.14
  • direct pathway medium spiny neuron CL4023026
    CSI 2.89
    rCSI 69.3%
    PRS 45.7
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.85
    rCSI 68.87%
    PRS 46.49
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 2.8
    rCSI 7.23%
    PRS 60.3
  • inhibitory interneuron CL0000498
    CSI 2.78
    rCSI 6.43%
    PRS 53.9
  • Mueller cell CL0000636
    CSI 2.78
    rCSI 6.34%
    PRS 56.93
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 2.75
    rCSI 1.85%
    PRS 78.55
  • neural crest cell CL0011012
    CSI 2.73
    rCSI 2.16%
    PRS 52.11
  • hematopoietic precursor cell CL0008001
    CSI 2.67
    rCSI 2.75%
    PRS 80.81
  • cerebellar granule cell CL0001031
    CSI 2.66
    rCSI 3.92%
    PRS 58.44
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 2.59
    rCSI 4.71%
    PRS 56.82
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 2.53
    rCSI 3.24%
    PRS 62.16
  • CD4-positive helper T cell CL0000492
    CSI 2.53
    rCSI 1.91%
    PRS 78.99
  • epithelial cell CL0000066
    CSI 2.49
    rCSI 3.83%
    PRS 59.81
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.43
    rCSI 2.9%
    PRS 46.44
  • mature T cell CL0002419
    CSI 2.43
    rCSI 1.89%
    PRS 82.49
  • Langerhans cell CL0000453
    CSI 2.43
    rCSI 3.71%
    PRS 80.31
  • epithelial cell of lung CL0000082
    CSI 2.42
    rCSI 2%
    PRS 64.77
  • plasmablast CL0000980
    CSI 2.41
    rCSI 1.9%
    PRS 71.93
  • T follicular helper cell CL0002038
    CSI 2.4
    rCSI 1.8%
    PRS 80.13
  • transit amplifying cell of colon CL0009011
    CSI 2.4
    rCSI 2.82%
    PRS 67.42
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 2.4
    rCSI 1.85%
    PRS 66.17
  • ON-bipolar cell CL0000749
    CSI 2.38
    rCSI 3.54%
    PRS 66.43
  • plasmacytoid dendritic cell, human CL0001058
    CSI 2.37
    rCSI 1.65%
    PRS 67.92
  • granulocyte monocyte progenitor cell CL0000557
    CSI 2.34
    rCSI 2.02%
    PRS 70.17
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 2.33
    rCSI 5.07%
    PRS 52.82
  • stem cell CL0000034
    CSI 2.29
    rCSI 2.21%
    PRS 56.24
  • peripheral nervous system neuron CL2000032
    CSI 2.28
    rCSI 3.1%
    PRS 56.76
  • retinal bipolar neuron CL0000748
    CSI 2.26
    rCSI 4.23%
    PRS 53.37
  • pulmonary ionocyte CL0017000
    CSI 2.21
    rCSI 2.69%
    PRS 72.79
  • Kupffer cell CL0000091
    CSI 2.19
    rCSI 5%
    PRS 65.35
  • CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell CL0000915
    CSI 2.17
    rCSI 9.88%
    PRS 89.8
  • blood vessel smooth muscle cell CL0019018
    CSI 2.15
    rCSI 17.46%
    PRS 58.73
  • renal beta-intercalated cell CL0002201
    CSI 2.11
    rCSI 5.03%
    PRS 65.77
  • hepatic stellate cell CL0000632
    CSI 2.04
    rCSI 7.66%
    PRS 57.14
  • multi-ciliated epithelial cell CL0005012
    CSI 2.04
    rCSI 2.04%
    PRS 58.7
  • interneuron CL0000099
    CSI 2.03
    rCSI 4.07%
    PRS 54.25
  • ionocyte CL0005006
    CSI 2
    rCSI 2.14%
    PRS 65.13
  • mature B cell CL0000785
    CSI 1.98
    rCSI 1.72%
    PRS 75.98
  • activated type II NK T cell CL0000931
    CSI 1.97
    rCSI 2.21%
    PRS 81.28
  • renal alpha-intercalated cell CL0005011
    CSI 1.96
    rCSI 2.62%
    PRS 73.92
  • CD4-positive, alpha-beta cytotoxic T cell CL0000934
    CSI 1.89
    rCSI 2.6%
    PRS 83.72
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 1.86
    rCSI 2.14%
    PRS 58.11
  • intestinal epithelial cell CL0002563
    CSI 1.82
    rCSI 1.9%
    PRS 63.18
  • M cell of gut CL0000682
    CSI 1.81
    rCSI 1.93%
    PRS 74.42
  • class switched memory B cell CL0000972
    CSI 1.81
    rCSI 1.35%
    PRS 81.27
  • duct epithelial cell CL0000068
    CSI 1.81
    rCSI 2.64%
    PRS 70.32
  • immature B cell CL0000816
    CSI 1.75
    rCSI 1.3%
    PRS 78.5
  • activated CD4-positive, alpha-beta T cell CL0000896
    CSI 1.71
    rCSI 1.58%
    PRS 83.86
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 1.7
    rCSI 2.41%
    PRS 61.67
  • neuron CL0000540
    CSI 1.7
    rCSI 4.53%
    PRS 54.46
  • retina horizontal cell CL0000745
    CSI 1.68
    rCSI 2.56%
    PRS 61.57
  • chondrocyte CL0000138
    CSI 1.67
    rCSI 2.65%
    PRS 57.69
  • pre-conventional dendritic cell CL0002010
    CSI 0.3
    rCSI 3.8%
    PRS 89.6%
  • pancreatic stellate cell CL0002410
    CSI 0.4
    rCSI 2.2%
    PRS 73.4%
  • parietal cell CL0000162
    CSI 0.4
    rCSI 3.3%
    PRS 87.8%
  • pluripotent stem cell CL0002248
    CSI 0.4
    rCSI 12.8%
    PRS 83.2%
  • GABAergic amacrine cell CL4030027
    CSI 0.5
    rCSI 1.6%
    PRS 53.7%
  • pancreatic PP cell CL0002275
    CSI 0.5
    rCSI 2.1%
    PRS 76.8%
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 0.6
    rCSI 1.9%
    PRS 50.7%
  • podocyte CL0000653
    CSI 0.6
    rCSI 2.7%
    PRS 65.1%
  • type EC enteroendocrine cell CL0000577
    CSI 0.7
    rCSI 2.4%
    PRS 73.1%
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI 0.7
    rCSI 1.4%
    PRS 82.0%
  • helper T cell CL0000912
    CSI 0.7
    rCSI 1.0%
    PRS 69.2%
  • parietal epithelial cell CL1000452
    CSI 0.7
    rCSI 1.9%
    PRS 56.2%
  • OFF midget ganglion cell CL4033047
    CSI 0.7
    rCSI 15.1%
    PRS 57.2%
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.8
    rCSI 3.0%
    PRS 47.3%
  • lymphoid lineage restricted progenitor cell CL0000838
    CSI 0.8
    rCSI 3.2%
    PRS 84.6%
  • basophil mast progenitor cell CL0002028
    CSI 0.9
    rCSI 4.6%
    PRS 91.9%
  • pancreatic ductal cell CL0002079
    CSI 0.9
    rCSI 1.7%
    PRS 68.2%
  • myeloid dendritic cell CL0000782
    CSI 0.9
    rCSI 1.3%
    PRS 80.7%
  • mammary gland epithelial cell CL0002327
    CSI 0.9
    rCSI 3.1%
    PRS 77.2%
  • endothelial cell of placenta CL0009092
    CSI 0.9
    rCSI 4.4%
    PRS 76.1%
  • pancreatic acinar cell CL0002064
    CSI 0.9
    rCSI 1.2%
    PRS 71.6%
  • promonocyte CL0000559
    CSI 0.9
    rCSI 1.6%
    PRS 73.7%
  • glycinergic amacrine cell CL4030028
    CSI 1.0
    rCSI 2.5%
    PRS 62.1%
  • alternatively activated macrophage CL0000890
    CSI 1.0
    rCSI 1.3%
    PRS 77.0%
  • erythroid lineage cell CL0000764
    CSI 1.0
    rCSI 6.5%
    PRS 81.4%
  • mesenchymal cell CL0008019
    CSI 1.0
    rCSI 2.6%
    PRS 59.2%
  • intestinal tuft cell CL0019032
    CSI 1.0
    rCSI 1.6%
    PRS 69.6%
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.0
    rCSI 1.8%
    PRS 46.6%
  • intestinal crypt stem cell of small intestine CL0009017
    CSI 1.1
    rCSI 2.9%
    PRS 72.1%
  • alveolar macrophage CL0000583
    CSI 1.1
    rCSI 1.7%
    PRS 70.6%
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.1
    rCSI 3.5%
    PRS 52.0%
  • amacrine cell CL0000561
    CSI 1.1
    rCSI 3.1%
    PRS 54.7%
  • placental villous trophoblast CL2000060
    CSI 1.1
    rCSI 1.7%
    PRS 63.7%
  • intermediate monocyte CL0002393
    CSI 1.1
    rCSI 1.7%
    PRS 69.9%
  • GABAergic neuron CL0000617
    CSI 1.1
    rCSI 3.8%
    PRS 50.1%
  • germinal center B cell CL0000844
    CSI 1.1
    rCSI 3.4%
    PRS 81.0%
  • memory T cell CL0000813
    CSI 1.1
    rCSI 2.2%
    PRS 89.2%
  • foveolar cell of stomach CL0002179
    CSI 1.2
    rCSI 2.5%
    PRS 75.5%
  • ON midget ganglion cell CL4033046
    CSI 1.2
    rCSI 23.8%
    PRS 55.7%
  • lung ciliated cell CL1000271
    CSI 1.2
    rCSI 1.4%
    PRS 55.7%
  • mononuclear phagocyte CL0000113
    CSI 1.2
    rCSI 2.6%
    PRS 69.2%
  • type B pancreatic cell CL0000169
    CSI 1.3
    rCSI 2.8%
    PRS 63.4%
  • renal principal cell CL0005009
    CSI 1.3
    rCSI 3.3%
    PRS 68.4%
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.3
    rCSI 2.2%
    PRS 45.7%
  • lung secretory cell CL1000272
    CSI 1.3
    rCSI 3.2%
    PRS 63.8%
  • transit amplifying cell of small intestine CL0009012
    CSI 1.3
    rCSI 5.8%
    PRS 78.8%
  • basal cell of prostate epithelium CL0002341
    CSI 1.3
    rCSI 3.8%
    PRS 76.4%
  • common lymphoid progenitor CL0000051
    CSI 1.3
    rCSI 1.8%
    PRS 84.7%
  • vascular leptomeningeal cell CL4023051
    CSI 1.4
    rCSI 2.4%
    PRS 57.3%
  • effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062
    CSI 1.4
    rCSI 6.8%
    PRS 77.8%
  • OFF-bipolar cell CL0000750
    CSI 1.4
    rCSI 1.9%
    PRS 71.2%
  • megakaryocyte progenitor cell CL0000553
    CSI 1.4
    rCSI 25.2%
    PRS 90.7%
  • lung macrophage CL1001603
    CSI 1.4
    rCSI 3.1%
    PRS 73.1%
  • intestine goblet cell CL0019031
    CSI 1.4
    rCSI 1.3%
    PRS 63.2%
  • hepatocyte CL0000182
    CSI 1.4
    rCSI 2.5%
    PRS 64.6%
  • transit amplifying cell CL0009010
    CSI 1.4
    rCSI 2.2%
    PRS 77.9%
  • myeloid lineage restricted progenitor cell CL0000839
    CSI 1.4
    rCSI 7.4%
    PRS 85.6%
  • club cell CL0000158
    CSI 1.5
    rCSI 2.1%
    PRS 60.7%
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 1.5
    rCSI 15.4%
    PRS 63.2%
  • glutamatergic neuron CL0000679
    CSI 1.5
    rCSI 3.0%
    PRS 55.0%
  • keratinocyte CL0000312
    CSI 1.5
    rCSI 1.3%
    PRS 69.2%
  • retinal cone cell CL0000573
    CSI 1.5
    rCSI 2.4%
    PRS 54.7%
  • mucous neck cell CL0000651
    CSI 1.5
    rCSI 2.2%
    PRS 75.4%
  • elicited macrophage CL0000861
    CSI 1.5
    rCSI 1.4%
    PRS 74.3%
  • Hofbauer cell CL3000001
    CSI 1.5
    rCSI 2.9%
    PRS 75.7%
  • BEST4+ enteroycte CL4030026
    CSI 1.5
    rCSI 1.9%
    PRS 66.9%
  • retinal ganglion cell CL0000740
    CSI 1.5
    rCSI 3.4%
    PRS 51.2%
  • CD8-positive, alpha-beta thymocyte CL0000811
    CSI 1.6
    rCSI 2.5%
    PRS 87.2%
  • mature alpha-beta T cell CL0000791
    CSI 1.6
    rCSI 5.7%
    PRS 84.1%
  • rod bipolar cell CL0000751
    CSI 1.6
    rCSI 2.9%
    PRS 58.4%
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 1.6
    rCSI 2.0%
    PRS 44.8%
  • thymocyte CL0000893
    CSI 1.6
    rCSI 5.7%
    PRS 91.6%
  • ciliated epithelial cell CL0000067
    CSI 1.6
    rCSI 1.4%
    PRS 53.1%
  • sst GABAergic cortical interneuron CL4023017
    CSI 1.6
    rCSI 2.1%
    PRS 47.9%
  • choroid plexus epithelial cell CL0000706
    CSI 1.6
    rCSI 2.6%
    PRS 54.3%
  • lung pericyte CL0009089
    CSI 1.6
    rCSI 4.3%
    PRS 73.9%
  • cerebral cortex neuron CL0010012
    CSI 1.6
    rCSI 6.7%
    PRS 58.9%
  • lung neuroendocrine cell CL1000223
    CSI 1.7
    rCSI 2.4%
    PRS 70.6%
  • chondrocyte CL0000138
    CSI 1.7
    rCSI 2.7%
    PRS 57.7%
  • retina horizontal cell CL0000745
    CSI 1.7
    rCSI 2.6%
    PRS 61.6%
  • neuron CL0000540
    CSI 1.7
    rCSI 4.5%
    PRS 54.5%
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 1.7
    rCSI 2.4%
    PRS 61.7%
  • activated CD4-positive, alpha-beta T cell CL0000896
    CSI 1.7
    rCSI 1.6%
    PRS 83.9%
  • immature B cell CL0000816
    CSI 1.8
    rCSI 1.3%
    PRS 78.5%
  • duct epithelial cell CL0000068
    CSI 1.8
    rCSI 2.6%
    PRS 70.3%
  • class switched memory B cell CL0000972
    CSI 1.8
    rCSI 1.4%
    PRS 81.3%
  • M cell of gut CL0000682
    CSI 1.8
    rCSI 1.9%
    PRS 74.4%
  • intestinal epithelial cell CL0002563
    CSI 1.8
    rCSI 1.9%
    PRS 63.2%
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 1.9
    rCSI 2.1%
    PRS 58.1%
  • CD4-positive, alpha-beta cytotoxic T cell CL0000934
    CSI 1.9
    rCSI 2.6%
    PRS 83.7%
  • renal alpha-intercalated cell CL0005011
    CSI 2.0
    rCSI 2.6%
    PRS 73.9%
  • activated type II NK T cell CL0000931
    CSI 2.0
    rCSI 2.2%
    PRS 81.3%
  • mature B cell CL0000785
    CSI 2.0
    rCSI 1.7%
    PRS 76.0%
  • ionocyte CL0005006
    CSI 2.0
    rCSI 2.1%
    PRS 65.1%
  • interneuron CL0000099
    CSI 2.0
    rCSI 4.1%
    PRS 54.3%
  • multi-ciliated epithelial cell CL0005012
    CSI 2.0
    rCSI 2.0%
    PRS 58.7%
  • hepatic stellate cell CL0000632
    CSI 2.0
    rCSI 7.7%
    PRS 57.1%
  • renal beta-intercalated cell CL0002201
    CSI 2.1
    rCSI 5.0%
    PRS 65.8%
  • blood vessel smooth muscle cell CL0019018
    CSI 2.2
    rCSI 17.5%
    PRS 58.7%
  • CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell CL0000915
    CSI 2.2
    rCSI 9.9%
    PRS 89.8%

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 [HPRT1](/details-gene/3251) (hypoxanthine phosphoribosyltransferase 1) encodes a crucial enzyme in the purine salvage pathway, which recycles purines from degraded DNA and RNA for nucleotide synthesis. This protein, hypoxanthine-guanine phosphoribosyltransferase, catalyzes the conversion of hypoxanthine and guanine to their respective mononucleotides, IMP and GMP. Its function is fundamental for nucleotide homeostasis, particularly in rapidly dividing cells or tissues with limited de novo synthesis capacity. **Overall**, expression data reveals its highest significance in hematopoietic progenitor cells, such as the [megakaryocyte-erythroid progenitor cell](/details-cell/CL0000050) and [common myeloid progenitor](/details-cell/CL0000049), highlighting its essential role in the development of blood and immune cells. Clinically, mutations in [HPRT1](/details-gene/3251) are associated with severe metabolic and neurological disorders, including Lesch-Nyhan syndrome ([308000](https://omim.org/entry/308000)) and HPRT-related gout ([300322](https://omim.org/entry/300322)). ## Cellular Roles and Expression Landscape The expression profile of [HPRT1](/details-gene/3251) indicates its role as a key metabolic enzyme with widespread, yet differential, importance across various cell lineages. Its significance is most pronounced in the hematopoietic system, particularly in progenitor populations that undergo rapid proliferation and differentiation. **Overall**, [HPRT1](/details-gene/3251) shows the highest cell significance index (CSI) in [megakaryocyte-erythroid progenitor cell](/details-cell/CL0000050) (CSI: 34.86) and [common myeloid progenitor](/details-cell/CL0000049) (CSI: 18.98), suggesting that the purine salvage pathway is exceptionally active and critical during the early stages of hematopoiesis. This pattern extends to committed immune progenitors and mature immune cells, including [group 3 innate lymphoid cell](/details-cell/CL0001071), [large pre-B-II cell](/details-cell/CL0000957), [double negative thymocyte](/details-cell/CL0002489), and various T cell subsets. This is consistent with the high metabolic demand required for immune cell development and clonal expansion upon activation. Beyond the immune system, [HPRT1](/details-gene/3251) is also highly significant in terminally differentiated cells with high energy requirements, such as the [retinal rod cell](/details-cell/CL0000604) and various types of glutamatergic neurons, including [L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040). This broad expression underscores its fundamental housekeeping function in maintaining the nucleotide pool for transcription, energy metabolism, and cellular repair across diverse tissues. ## Pathways and Molecular Function Functionally, [HPRT1](/details-gene/3251) is central to nucleotide metabolism, primarily through its involvement in the purine salvage pathway. Its molecular function is defined by [Hypoxanthine phosphoribosyltransferase activity](/details-go/GO:0004422) and [Guanine phosphoribosyltransferase activity](/details-go/GO:0052657), enabling the biological processes of [Hypoxanthine salvage](/details-go/GO:0043103) and [Guanine salvage](/details-go/GO:0006178). This is strongly corroborated by its annotation in Reactome pathways such as [Purine salvage](/reactome/R-HSA-74217) and [Nucleotide salvage](/reactome/R-HSA-8956321). The importance of this pathway is highlighted by the disease-associated pathway, [Defective hprt1 disrupts guanine and hypoxanthine salvage](/reactome/R-HSA-9734281). Failure of this salvage mechanism leads to the accumulation of uric acid, the end product of purine degradation, and a deficit of purine nucleotides, causing the severe symptoms seen in Lesch-Nyhan syndrome. The gene's involvement in processes like [Lymphocyte proliferation](/details-go/GO:0046651) and [T cell mediated cytotoxicity](/details-go/GO:0001913) provides a direct molecular link to its high expression in immune cells. Furthermore, GO annotations related to [Central nervous system neuron development](/details-go/GO:0021954) and [Dopamine metabolic process](/details-go/GO:0042417) are consistent with the profound neurological deficits observed in HPRT1 deficiency and its significant expression in neuronal populations. ## Research Directions The widespread yet cell-type-specific significance of [HPRT1](/details-gene/3251) suggests that while it is a housekeeping gene, different cell lineages possess varying degrees of dependency on the purine salvage pathway versus de novo synthesis. Based on the available data, several testable hypotheses can be proposed: 1. Given its exceptionally high CSI in hematopoietic progenitors, [HPRT1](/details-gene/3251)-mediated purine salvage is a rate-limiting factor for the differentiation and expansion of specific blood lineages, such as erythrocytes and megakaryocytes. Its deficiency may lead to lineage-skewed hematopoiesis or specific cytopenias under conditions of metabolic stress. 2. The high significance of [HPRT1](/details-gene/3251) in distinct immune subsets like [group 3 innate lymphoid cell](/details-cell/CL0001071) and [T-helper 17 cell](/details-cell/CL0000899) suggests a specialized reliance on this pathway for their unique effector functions. These cells may be more vulnerable to metabolic inhibitors targeting purine salvage compared to other lymphocyte populations. To test the first hypothesis regarding the role of [HPRT1](/details-gene/3251) in hematopoietic lineage commitment, a key experiment would be to use a conditional knockout mouse model (e.g., employing a Vav1-Cre driver to ensure deletion across the hematopoietic system). Bone marrow from these mice could be cultured *in vitro* under conditions promoting either erythroid or megakaryocytic differentiation. The efficiency of lineage commitment and cell proliferation could be quantified using flow cytometry for cell surface markers and colony-forming unit (CFU) assays. This approach would clarify the specific dependency of these progenitor cells on the purine salvage pathway. Therapeutically, [HPRT1](/details-gene/3251) is not a suitable target for direct inhibition due to its essential housekeeping role and the severe consequences of its loss of function. Instead, its clinical relevance lies in its role in pharmacogenomics. The enzyme is critical for the metabolic activation of thiopurine prodrugs, such as azathioprine and 6-mercaptopurine, which are used as immunosuppressants and chemotherapeutics. This is reflected in its involvement in the [Azathioprine adme](/reactome/R-HSA-9748787) pathway. Therefore, the expression level or functional status of [HPRT1](/details-gene/3251) in target cells (e.g., leukemic blasts or autoreactive lymphocytes) is a key determinant of drug efficacy, and its deficiency is a known mechanism of acquired drug resistance.

Genular Protein ID: 2727652252

Symbol: HPRT_HUMAN

Name: Hypoxanthine-guanine phosphoribosyltransferase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 6300847

Title: Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

PubMed ID: 6300847

DOI: 10.1073/pnas.80.2.477

PubMed ID: 2341149

Title: Automated DNA sequencing of the human HPRT locus.

PubMed ID: 2341149

DOI: 10.1016/0888-7543(90)90493-e

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 7107641

Title: Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.

PubMed ID: 7107641

DOI: 10.1016/s0021-9258(18)33920-6

PubMed ID: 3023844

Title: Fine structure of the human hypoxanthine phosphoribosyltransferase gene.

PubMed ID: 3023844

DOI: 10.1128/mcb.6.2.393-403.1986

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: 25114211

Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.

PubMed ID: 25114211

DOI: 10.1073/pnas.1413825111

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 8044844

Title: The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.

PubMed ID: 8044844

DOI: 10.1016/0092-8674(94)90301-8

PubMed ID: 10360366

Title: The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.

PubMed ID: 10360366

DOI: 10.1038/9376

PubMed ID: 10338013

Title: Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding.

PubMed ID: 10338013

DOI: 10.1110/ps.8.5.1023

PubMed ID: 1487231

Title: A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

PubMed ID: 1487231

DOI: 10.1007/bf00220062

PubMed ID: 15990111

Title: The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle.

PubMed ID: 15990111

DOI: 10.1016/j.jmb.2005.05.061

PubMed ID: 19527031

Title: Inhibition of hypoxanthine-guanine phosphoribosyltransferase by acyclic nucleoside phosphonates: a new class of antimalarial therapeutics.

PubMed ID: 19527031

DOI: 10.1021/jm900267n

PubMed ID: 6853490

Title: Human hypoxanthine-guanine phosphoribosyltransferase.

PubMed ID: 6853490

DOI: 10.1016/s0021-9258(18)32432-3

PubMed ID: 6853716

Title: Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

PubMed ID: 6853716

DOI: 10.1172/jci110884

PubMed ID: 6572373

Title: Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.

PubMed ID: 6572373

DOI: 10.1073/pnas.80.3.870

PubMed ID: 6706936

Title: Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.

PubMed ID: 6706936

DOI: 10.1016/s0021-9258(17)43616-7

PubMed ID: 3358423

Title: Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.

PubMed ID: 3358423

PubMed ID: 3384338

Title: Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).

PubMed ID: 3384338

DOI: 10.1016/0378-1119(88)90536-7

PubMed ID: 3265398

Title: Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).

PubMed ID: 3265398

DOI: 10.1016/0378-1119(88)90601-4

PubMed ID: 2896620

Title: Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

PubMed ID: 2896620

DOI: 10.1007/bf00291707

PubMed ID: 3198771

Title: Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.

PubMed ID: 3198771

DOI: 10.1172/jci113839

PubMed ID: 3148064

Title: Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.

PubMed ID: 3148064

DOI: 10.1007/bf01800364

PubMed ID: 2572141

Title: Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.

PubMed ID: 2572141

DOI: 10.1111/j.1442-200x.1989.tb01306.x

PubMed ID: 2909537

Title: Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

PubMed ID: 2909537

DOI: 10.1016/s0021-9258(17)31289-9

PubMed ID: 2910902

Title: Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

PubMed ID: 2910902

DOI: 10.1172/jci113846

PubMed ID: 2738157

Title: Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

PubMed ID: 2738157

DOI: 10.1172/jci114160

PubMed ID: 2928313

Title: Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

PubMed ID: 2928313

DOI: 10.1073/pnas.86.6.1919

PubMed ID: 2347587

Title: Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

PubMed ID: 2347587

DOI: 10.1016/0888-7543(90)90545-6

PubMed ID: 2358296

Title: Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

PubMed ID: 2358296

DOI: 10.1007/bf00276334

PubMed ID: 2246854

Title: Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

PubMed ID: 2246854

DOI: 10.1007/bf01799570

PubMed ID: 2018042

Title: Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

PubMed ID: 2018042

PubMed ID: 2071157

Title: Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

PubMed ID: 2071157

DOI: 10.1016/0888-7543(91)90341-b

PubMed ID: 1937471

Title: Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.

PubMed ID: 1937471

DOI: 10.1007/bf00201727

PubMed ID: 1840476

Title: Identification of two independent Japanese mutant HPRT genes using the PCR technique.

PubMed ID: 1840476

DOI: 10.1007/978-1-4615-7703-4_27

PubMed ID: 1551676

Title: The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

PubMed ID: 1551676

DOI: 10.1007/bf02265300

PubMed ID: 1301916

Title: Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.

PubMed ID: 1301916

DOI: 10.1093/hmg/1.6.427

PubMed ID: 7987318

Title: Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.

PubMed ID: 7987318

DOI: 10.1093/hmg/3.8.1377

PubMed ID: 7627191

Title: Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.

PubMed ID: 7627191

DOI: 10.1002/humu.1380050413

PubMed ID: 9003484

Title: An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans.

PubMed ID: 9003484

DOI: 10.1007/s004390050300

PubMed ID: 9452051

Title: The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

PubMed ID: 9452051

DOI: 10.1002/humu.1380110130

PubMed ID: 15571223

Title: Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

PubMed ID: 15571223

DOI: 10.1081/ncn-200027439

PubMed ID: 17027311

Title: Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

PubMed ID: 17027311

DOI: 10.1016/j.ymgme.2006.08.013

PubMed ID: 20544509

Title: Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

PubMed ID: 20544509

DOI: 10.1080/15257771003738691

PubMed ID: 24940672

Title: Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

PubMed ID: 24940672

DOI: 10.1080/15257770.2013.865743

Sequence Information:

  • Length: 218
  • Mass: 24579
  • Checksum: 1928EE69517CCB40
  • Sequence:
  • MATRSPGVVI SDDEPGYDLD LFCIPNHYAE DLERVFIPHG LIMDRTERLA RDVMKEMGGH 
    HIVALCVLKG GYKFFADLLD YIKALNRNSD RSIPMTVDFI RLKSYCNDQS TGDIKVIGGD 
    DLSTLTGKNV LIVEDIIDTG KTMQTLLSLV RQYNPKMVKV ASLLVKRTPR SVGYKPDFVG 
    FEIPDKFVVG YALDYNEYFR DLNHVCVISE TGKAKYKA