Details for: HPS1

Gene ID: 3257

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: HPS1

Ensembl ID: ENSG00000107521

Description: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • naive T cell CL0000898
    CSI 17.46
    rCSI 12.15%
    PRS 37.82
  • M cell of gut CL0000682
    CSI 17.41
    rCSI 18.5%
    PRS 43.45
  • primitive red blood cell CL0002355
    CSI 7.52
    rCSI 40.56%
    PRS 42.79
  • inflammatory macrophage CL0000863
    CSI 6.53
    rCSI 11.16%
    PRS 51.94
  • effector CD8-positive, alpha-beta T cell CL0001050
    CSI 6.27
    rCSI 4.77%
    PRS 35.95
  • erythroid progenitor cell CL0000038
    CSI 5.82
    rCSI 33.39%
    PRS 38.47
  • unswitched memory B cell CL0000970
    CSI 5.69
    rCSI 4.79%
    PRS 41.89
  • hematopoietic precursor cell CL0008001
    CSI 5.28
    rCSI 5.43%
    PRS 42.43
  • myeloid dendritic cell CL0000782
    CSI 4.61
    rCSI 6.68%
    PRS 40.69
  • CD16-negative, CD56-bright natural killer cell, human CL0000938
    CSI 4.34
    rCSI 3.26%
    PRS 63.85
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI 4.2
    rCSI 8.38%
    PRS 43.89
  • hematopoietic multipotent progenitor cell CL0000837
    CSI 3.93
    rCSI 9.46%
    PRS 42.05
  • regular ventricular cardiac myocyte CL0002131
    CSI 3.88
    rCSI 24.22%
    PRS 22.07
  • intestinal tuft cell CL0019032
    CSI 3.27
    rCSI 5%
    PRS 31.18
  • effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062
    CSI 3.03
    rCSI 15.21%
    PRS 35.88
  • granulocyte monocyte progenitor cell CL0000557
    CSI 3.01
    rCSI 2.6%
    PRS 30.55
  • midzonal region hepatocyte CL0019028
    CSI 2.99
    rCSI 7.02%
    PRS 37.72
  • class switched memory B cell CL0000972
    CSI 2.98
    rCSI 2.23%
    PRS 43.97
  • bronchus fibroblast of lung CL2000093
    CSI 2.94
    rCSI 2.39%
    PRS 28.47
  • hepatocyte CL0000182
    CSI 2.73
    rCSI 4.88%
    PRS 25.62
  • myeloid leukocyte CL0000766
    CSI 2.69
    rCSI 2.48%
    PRS 28.47
  • lung secretory cell CL1000272
    CSI 2.67
    rCSI 6.61%
    PRS 25.61
  • early lymphoid progenitor CL0000936
    CSI 2.64
    rCSI 2.32%
    PRS 31.24
  • ciliated cell CL0000064
    CSI 2.61
    rCSI 4.22%
    PRS 27.25
  • CD4-positive helper T cell CL0000492
    CSI 2.55
    rCSI 1.93%
    PRS 36.95
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 2.54
    rCSI 1.5%
    PRS 38.26
  • immature B cell CL0000816
    CSI 2.52
    rCSI 1.87%
    PRS 38.87
  • double negative thymocyte CL0002489
    CSI 2.49
    rCSI 1.73%
    PRS 33.07
  • melanocyte CL0000148
    CSI 2.48
    rCSI 1.84%
    PRS 23.57
  • CD4-positive, alpha-beta memory T cell CL0000897
    CSI 2.46
    rCSI 1.77%
    PRS 37.23
  • myoepithelial cell CL0000185
    CSI 2.45
    rCSI 6.2%
    PRS 33.56
  • CD16-positive, CD56-dim natural killer cell, human CL0000939
    CSI 2.45
    rCSI 1.63%
    PRS 56.32
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI 2.42
    rCSI 6.94%
    PRS 40.45
  • brush cell of tracheobronchial tree CL0002075
    CSI 2.42
    rCSI 7.18%
    PRS 37.11
  • plasmacytoid dendritic cell, human CL0001058
    CSI 2.37
    rCSI 1.65%
    PRS 28.96
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 2.28
    rCSI 1.53%
    PRS 34.05
  • mucus secreting cell CL0000319
    CSI 2.27
    rCSI 3.6%
    PRS 35.06
  • T follicular helper cell CL0002038
    CSI 2.25
    rCSI 1.69%
    PRS 41.18
  • secretory cell CL0000151
    CSI 2.21
    rCSI 2.3%
    PRS 28.14
  • activated CD4-positive, alpha-beta T cell CL0000896
    CSI 2.17
    rCSI 2.01%
    PRS 46.57
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.16
    rCSI 1.68%
    PRS 26.77
  • common dendritic progenitor CL0001029
    CSI 2.1
    rCSI 2.64%
    PRS 35.08
  • neural crest cell CL0011012
    CSI 2.1
    rCSI 1.66%
    PRS 18.99
  • CD4-positive, alpha-beta cytotoxic T cell CL0000934
    CSI 2.09
    rCSI 2.88%
    PRS 48.2
  • erythroid lineage cell CL0000764
    CSI 2.09
    rCSI 13.47%
    PRS 51.03
  • alpha-beta T cell CL0000789
    CSI 2.02
    rCSI 2.36%
    PRS 38.44
  • lung macrophage CL1001603
    CSI 2
    rCSI 4.47%
    PRS 32.01
  • pancreatic acinar cell CL0002064
    CSI 1.99
    rCSI 2.65%
    PRS 30.17
  • plasmablast CL0000980
    CSI 1.98
    rCSI 1.56%
    PRS 32.72
  • epithelial cell of lung CL0000082
    CSI 1.94
    rCSI 1.61%
    PRS 26.11
  • pro-B cell CL0000826
    CSI 1.91
    rCSI 1.58%
    PRS 27.8
  • promyelocyte CL0000836
    CSI 1.91
    rCSI 2.75%
    PRS 36.9
  • pancreatic A cell CL0000171
    CSI 1.9
    rCSI 1.99%
    PRS 29.12
  • activated type II NK T cell CL0000931
    CSI 1.87
    rCSI 2.1%
    PRS 42.06
  • Kupffer cell CL0000091
    CSI 1.82
    rCSI 4.16%
    PRS 26.85
  • acinar cell CL0000622
    CSI 1.81
    rCSI 2.66%
    PRS 35.65
  • hematopoietic stem cell CL0000037
    CSI 1.8
    rCSI 1.2%
    PRS 31.9
  • interstitial cell of Cajal CL0002088
    CSI 1.8
    rCSI 2.29%
    PRS 31.44
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 1.79
    rCSI 1.61%
    PRS 24.99
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 1.75
    rCSI 1.72%
    PRS 41.05
  • non-classical monocyte CL0000875
    CSI 1.75
    rCSI 2.81%
    PRS 60.48
  • tracheal goblet cell CL1000329
    CSI 1.75
    rCSI 3.82%
    PRS 48.5
  • colon epithelial cell CL0011108
    CSI 1.74
    rCSI 1.82%
    PRS 25.59
  • mesenchymal cell CL0008019
    CSI 1.74
    rCSI 4.41%
    PRS 26.63
  • alveolar macrophage CL0000583
    CSI 1.73
    rCSI 2.85%
    PRS 31.96
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 1.68
    rCSI 1.3%
    PRS 25.81
  • goblet cell CL0000160
    CSI 1.68
    rCSI 1.59%
    PRS 28.59
  • glial cell CL0000125
    CSI 1.67
    rCSI 6.35%
    PRS 25.25
  • duct epithelial cell CL0000068
    CSI 1.67
    rCSI 2.44%
    PRS 29.17
  • alternatively activated macrophage CL0000890
    CSI 1.67
    rCSI 2.09%
    PRS 39.92
  • Langerhans cell CL0000453
    CSI 1.66
    rCSI 2.54%
    PRS 45.06
  • multi-ciliated epithelial cell CL0005012
    CSI 1.66
    rCSI 1.66%
    PRS 23.48
  • CD14-positive monocyte CL0001054
    CSI 1.63
    rCSI 2.03%
    PRS 37.09
  • Hofbauer cell CL3000001
    CSI 1.63
    rCSI 3.07%
    PRS 34.66
  • intestine goblet cell CL0019031
    CSI 1.62
    rCSI 1.44%
    PRS 27.42
  • stem cell CL0000034
    CSI 1.62
    rCSI 1.56%
    PRS 20.47
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 1.59
    rCSI 1.62%
    PRS 38.26
  • ionocyte CL0005006
    CSI 1.56
    rCSI 1.67%
    PRS 25.35
  • respiratory suprabasal cell CL4033048
    CSI 1.55
    rCSI 1.99%
    PRS 31.47
  • choroid plexus epithelial cell CL0000706
    CSI 1.55
    rCSI 2.54%
    PRS 21.31
  • nasal mucosa goblet cell CL0002480
    CSI 1.52
    rCSI 1.76%
    PRS 38.22
  • erythrocyte CL0000232
    CSI 1.45
    rCSI 3.29%
    PRS 34.47
  • mononuclear phagocyte CL0000113
    CSI 1.43
    rCSI 3.14%
    PRS 31
  • erythroblast CL0000765
    CSI 1.43
    rCSI 3.78%
    PRS 40.13
  • group 3 innate lymphoid cell CL0001071
    CSI 1.42
    rCSI 1.07%
    PRS 29.3
  • lung ciliated cell CL1000271
    CSI 1.38
    rCSI 1.6%
    PRS 20.43
  • extravillous trophoblast CL0008036
    CSI 1.38
    rCSI 1.7%
    PRS 24.2
  • paneth cell CL0000510
    CSI 1.37
    rCSI 2.03%
    PRS 41.65
  • ciliated epithelial cell CL0000067
    CSI 1.36
    rCSI 1.2%
    PRS 20.13
  • intestinal epithelial cell CL0002563
    CSI 1.35
    rCSI 1.41%
    PRS 28.12
  • pancreatic ductal cell CL0002079
    CSI 1.34
    rCSI 2.61%
    PRS 28.31
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 1.34
    rCSI 1.66%
    PRS 15.83
  • enterocyte CL0000584
    CSI 1.33
    rCSI 2.14%
    PRS 38.78
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.3
    rCSI 2.91%
    PRS 17.45
  • mature B cell CL0000785
    CSI 1.28
    rCSI 1.12%
    PRS 34.1
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 1.25
    rCSI 1.64%
    PRS 38.25
  • transit amplifying cell of colon CL0009011
    CSI 1.23
    rCSI 1.45%
    PRS 31.1
  • colonocyte CL1000347
    CSI 1.21
    rCSI 1.73%
    PRS 35.52
  • foveolar cell of stomach CL0002179
    CSI 1.19
    rCSI 2.53%
    PRS 41.49
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 1.15
    rCSI 1.39%
    PRS 32.85
  • retinal ganglion cell CL0000740
    CSI 0.2
    rCSI 0.3%
    PRS 19.8%
  • megakaryocyte progenitor cell CL0000553
    CSI 0.2
    rCSI 3.3%
    PRS 65.7%
  • cytotoxic T cell CL0000910
    CSI 0.2
    rCSI 1.2%
    PRS 39.1%
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.4
    rCSI 1.3%
    PRS 16.0%
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 0.4
    rCSI 1.1%
    PRS 19.2%
  • CD14-positive, CD16-negative classical monocyte CL0002057
    CSI 0.6
    rCSI 3.8%
    PRS 54.1%
  • mammary gland epithelial cell CL0002327
    CSI 0.7
    rCSI 2.4%
    PRS 44.0%
  • melanocyte of skin CL1000458
    CSI 0.8
    rCSI 1.0%
    PRS 15.3%
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.8
    rCSI 2.8%
    PRS 17.6%
  • pancreatic epsilon cell CL0005019
    CSI 0.8
    rCSI 3.5%
    PRS 53.2%
  • L6b glutamatergic cortical neuron CL4023038
    CSI 0.8
    rCSI 2.5%
    PRS 17.7%
  • transitional stage B cell CL0000818
    CSI 0.8
    rCSI 2.7%
    PRS 61.9%
  • tracheobronchial serous cell CL0019001
    CSI 0.9
    rCSI 3.8%
    PRS 45.5%
  • common myeloid progenitor CL0000049
    CSI 0.9
    rCSI 0.7%
    PRS 27.6%
  • promonocyte CL0000559
    CSI 1.0
    rCSI 1.6%
    PRS 36.1%
  • CD8-positive, alpha-beta cytotoxic T cell CL0000794
    CSI 1.0
    rCSI 1.2%
    PRS 45.4%
  • respiratory basal cell CL0002633
    CSI 1.0
    rCSI 1.0%
    PRS 32.2%
  • dendritic cell, human CL0001056
    CSI 1.1
    rCSI 1.7%
    PRS 32.6%
  • elicited macrophage CL0000861
    CSI 1.1
    rCSI 1.0%
    PRS 32.6%
  • intermediate monocyte CL0002393
    CSI 1.1
    rCSI 1.7%
    PRS 28.1%
  • club cell CL0000158
    CSI 1.1
    rCSI 1.6%
    PRS 30.1%
  • enteroendocrine cell CL0000164
    CSI 1.1
    rCSI 1.5%
    PRS 30.1%
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.1
    rCSI 1.9%
    PRS 16.8%
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 1.2
    rCSI 1.4%
    PRS 32.9%
  • foveolar cell of stomach CL0002179
    CSI 1.2
    rCSI 2.5%
    PRS 41.5%
  • colonocyte CL1000347
    CSI 1.2
    rCSI 1.7%
    PRS 35.5%
  • transit amplifying cell of colon CL0009011
    CSI 1.2
    rCSI 1.5%
    PRS 31.1%
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 1.3
    rCSI 1.6%
    PRS 38.3%
  • mature B cell CL0000785
    CSI 1.3
    rCSI 1.1%
    PRS 34.1%
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.3
    rCSI 2.9%
    PRS 17.5%
  • enterocyte CL0000584
    CSI 1.3
    rCSI 2.1%
    PRS 38.8%
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 1.3
    rCSI 1.7%
    PRS 15.8%
  • pancreatic ductal cell CL0002079
    CSI 1.3
    rCSI 2.6%
    PRS 28.3%
  • intestinal epithelial cell CL0002563
    CSI 1.4
    rCSI 1.4%
    PRS 28.1%
  • ciliated epithelial cell CL0000067
    CSI 1.4
    rCSI 1.2%
    PRS 20.1%
  • paneth cell CL0000510
    CSI 1.4
    rCSI 2.0%
    PRS 41.7%
  • extravillous trophoblast CL0008036
    CSI 1.4
    rCSI 1.7%
    PRS 24.2%
  • lung ciliated cell CL1000271
    CSI 1.4
    rCSI 1.6%
    PRS 20.4%
  • group 3 innate lymphoid cell CL0001071
    CSI 1.4
    rCSI 1.1%
    PRS 29.3%
  • erythroblast CL0000765
    CSI 1.4
    rCSI 3.8%
    PRS 40.1%
  • mononuclear phagocyte CL0000113
    CSI 1.4
    rCSI 3.1%
    PRS 31.0%
  • erythrocyte CL0000232
    CSI 1.5
    rCSI 3.3%
    PRS 34.5%
  • nasal mucosa goblet cell CL0002480
    CSI 1.5
    rCSI 1.8%
    PRS 38.2%
  • choroid plexus epithelial cell CL0000706
    CSI 1.6
    rCSI 2.5%
    PRS 21.3%
  • respiratory suprabasal cell CL4033048
    CSI 1.6
    rCSI 2.0%
    PRS 31.5%
  • ionocyte CL0005006
    CSI 1.6
    rCSI 1.7%
    PRS 25.4%
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 1.6
    rCSI 1.6%
    PRS 38.3%
  • stem cell CL0000034
    CSI 1.6
    rCSI 1.6%
    PRS 20.5%
  • intestine goblet cell CL0019031
    CSI 1.6
    rCSI 1.4%
    PRS 27.4%
  • Hofbauer cell CL3000001
    CSI 1.6
    rCSI 3.1%
    PRS 34.7%
  • CD14-positive monocyte CL0001054
    CSI 1.6
    rCSI 2.0%
    PRS 37.1%
  • multi-ciliated epithelial cell CL0005012
    CSI 1.7
    rCSI 1.7%
    PRS 23.5%
  • Langerhans cell CL0000453
    CSI 1.7
    rCSI 2.5%
    PRS 45.1%
  • alternatively activated macrophage CL0000890
    CSI 1.7
    rCSI 2.1%
    PRS 39.9%
  • duct epithelial cell CL0000068
    CSI 1.7
    rCSI 2.4%
    PRS 29.2%
  • glial cell CL0000125
    CSI 1.7
    rCSI 6.4%
    PRS 25.3%
  • goblet cell CL0000160
    CSI 1.7
    rCSI 1.6%
    PRS 28.6%
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 1.7
    rCSI 1.3%
    PRS 25.8%
  • alveolar macrophage CL0000583
    CSI 1.7
    rCSI 2.9%
    PRS 32.0%
  • mesenchymal cell CL0008019
    CSI 1.7
    rCSI 4.4%
    PRS 26.6%
  • colon epithelial cell CL0011108
    CSI 1.7
    rCSI 1.8%
    PRS 25.6%
  • tracheal goblet cell CL1000329
    CSI 1.8
    rCSI 3.8%
    PRS 48.5%
  • non-classical monocyte CL0000875
    CSI 1.8
    rCSI 2.8%
    PRS 60.5%
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 1.8
    rCSI 1.7%
    PRS 41.1%
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 1.8
    rCSI 1.6%
    PRS 25.0%
  • interstitial cell of Cajal CL0002088
    CSI 1.8
    rCSI 2.3%
    PRS 31.4%
  • hematopoietic stem cell CL0000037
    CSI 1.8
    rCSI 1.2%
    PRS 31.9%
  • acinar cell CL0000622
    CSI 1.8
    rCSI 2.7%
    PRS 35.7%
  • Kupffer cell CL0000091
    CSI 1.8
    rCSI 4.2%
    PRS 26.9%
  • activated type II NK T cell CL0000931
    CSI 1.9
    rCSI 2.1%
    PRS 42.1%
  • pancreatic A cell CL0000171
    CSI 1.9
    rCSI 2.0%
    PRS 29.1%
  • promyelocyte CL0000836
    CSI 1.9
    rCSI 2.8%
    PRS 36.9%
  • pro-B cell CL0000826
    CSI 1.9
    rCSI 1.6%
    PRS 27.8%
  • epithelial cell of lung CL0000082
    CSI 1.9
    rCSI 1.6%
    PRS 26.1%
  • plasmablast CL0000980
    CSI 2.0
    rCSI 1.6%
    PRS 32.7%
  • pancreatic acinar cell CL0002064
    CSI 2.0
    rCSI 2.7%
    PRS 30.2%
  • lung macrophage CL1001603
    CSI 2.0
    rCSI 4.5%
    PRS 32.0%
  • alpha-beta T cell CL0000789
    CSI 2.0
    rCSI 2.4%
    PRS 38.4%
  • erythroid lineage cell CL0000764
    CSI 2.1
    rCSI 13.5%
    PRS 51.0%
  • CD4-positive, alpha-beta cytotoxic T cell CL0000934
    CSI 2.1
    rCSI 2.9%
    PRS 48.2%
  • neural crest cell CL0011012
    CSI 2.1
    rCSI 1.7%
    PRS 19.0%
  • common dendritic progenitor CL0001029
    CSI 2.1
    rCSI 2.6%
    PRS 35.1%
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.2
    rCSI 1.7%
    PRS 26.8%
  • activated CD4-positive, alpha-beta T cell CL0000896
    CSI 2.2
    rCSI 2.0%
    PRS 46.6%
  • secretory cell CL0000151
    CSI 2.2
    rCSI 2.3%
    PRS 28.1%
  • T follicular helper cell CL0002038
    CSI 2.3
    rCSI 1.7%
    PRS 41.2%
  • mucus secreting cell CL0000319
    CSI 2.3
    rCSI 3.6%
    PRS 35.1%
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 2.3
    rCSI 1.5%
    PRS 34.1%
  • plasmacytoid dendritic cell, human CL0001058
    CSI 2.4
    rCSI 1.7%
    PRS 29.0%
  • brush cell of tracheobronchial tree CL0002075
    CSI 2.4
    rCSI 7.2%
    PRS 37.1%
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI 2.4
    rCSI 6.9%
    PRS 40.5%
  • CD16-positive, CD56-dim natural killer cell, human CL0000939
    CSI 2.5
    rCSI 1.6%
    PRS 56.3%
  • myoepithelial cell CL0000185
    CSI 2.5
    rCSI 6.2%
    PRS 33.6%
  • CD4-positive, alpha-beta memory T cell CL0000897
    CSI 2.5
    rCSI 1.8%
    PRS 37.2%
  • melanocyte CL0000148
    CSI 2.5
    rCSI 1.8%
    PRS 23.6%
  • double negative thymocyte CL0002489
    CSI 2.5
    rCSI 1.7%
    PRS 33.1%
  • immature B cell CL0000816
    CSI 2.5
    rCSI 1.9%
    PRS 38.9%
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 2.5
    rCSI 1.5%
    PRS 38.3%
  • CD4-positive helper T cell CL0000492
    CSI 2.6
    rCSI 1.9%
    PRS 37.0%
  • ciliated cell CL0000064
    CSI 2.6
    rCSI 4.2%
    PRS 27.3%

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 [HPS1](/details-gene/3257) (Hermansky-Pudlak syndrome 1) encodes a protein that is a core component of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3). This complex functions as a guanine nucleotide exchange factor (GEF) for Rab GTPases, playing a crucial role in the formation and trafficking of specialized lysosome-related organelles ([Link](https://doi.org/10.1016/j.cub.2012.09.020)). Mutations in this gene are the primary cause of Hermansky-Pudlak syndrome 1 ([203300](https://omim.org/entry/203300)), a rare autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding diathesis due to platelet storage deficiency, and in some cases, pulmonary fibrosis ([Link](https://doi.org/10.1038/ng1196-300)). Expression data reveals that [HPS1](/details-gene/3257) has high significance in a diverse range of cell types, including hematopoietic lineages such as [naive T cells](/details-cell/CL0000898) and specialized epithelial cells like [M cells of the gut](/details-cell/CL0000682), highlighting its fundamental importance in intracellular transport across multiple physiological systems. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [HPS1](/details-gene/3257) underscores its specialized but widespread role in cells that depend on sophisticated vesicular transport systems. The gene exhibits its highest significance in immune cells, particularly [naive T cells](/details-cell/CL0000898), but is also a key marker in multiple other hematopoietic cell types, including [inflammatory macrophages](/details-cell/CL0000863), [effector CD8-positive, alpha-beta T cells](/details-cell/CL0001050), and various progenitor cells, such as [erythroid progenitor cells](/details-cell/CL0000038) and [hematopoietic precursor cells](/details-cell/CL0008001). This broad expression pattern within the immune and hematopoietic systems is consistent with its known role in the biogenesis of organelles critical for platelet function (dense granules) and potentially for processes like antigen presentation and cytotoxic granule formation. Intriguingly, [HPS1](/details-gene/3257) is also highly significant in specialized epithelial cells of the gut, including [M cells](/details-cell/CL0000682) and [intestinal tuft cells](/details-cell/CL0019032). M cells are crucial for transepithelial transport of luminal antigens to initiate mucosal immunity, a process heavily reliant on vesicle trafficking. Its presence in these cells suggests a role beyond hematopoiesis, pointing to a function in mucosal surveillance. The gene's significance in [primitive red blood cells](/details-cell/CL0002355) and even [regular ventricular cardiac myocytes](/details-cell/CL0002131) further suggests that its function in organelle biogenesis and maintenance is required in a variety of terminally differentiated cells with high metabolic or trafficking demands. ## Pathways and Molecular Function The functions of [HPS1](/details-gene/3257) are centered on intracellular logistics. As a subunit of the [Bloc-3 complex](/details-cell/GO:0031085), it partakes in [Vesicle-mediated transport](/details-cell/GO:0016192), a process foundational to cellular life ([R-HSA-5653656](https://reactome.org/content/detail/R-HSA-5653656)). The BLOC-3 complex exhibits [Guanyl-nucleotide exchange factor activity](/details-cell/GO:0005085) for Rab32 and Rab38, which are key regulators of trafficking pathways to melanosomes and other lysosome-related organelles ([Link](https://doi.org/10.1016/j.cub.2012.09.020)). This molecular function directly explains its involvement in several biological processes. The clinical hallmark of albinism is tied to its role in [Melanosome assembly](/details-cell/GO:1903232), while the bleeding disorder results from defects in [Platelet dense granule organization](/details-cell/GO:0060155). More broadly, its activity is essential for [Lysosome organization](/details-cell/GO:0007040) and general [Intracellular transport](/details-cell/GO:0046907). This functional profile is highly consistent with its expression in immune cells, which require precise trafficking of vesicles for cytokine secretion, antigen presentation, and the deployment of cytotoxic granules. ## Research Directions Given that Hermansky-Pudlak syndrome is a disease of organelle biogenesis, understanding the specific requirements for [HPS1](/details-gene/3257) in different cell types could reveal novel aspects of the disease's pathology and identify new therapeutic avenues. ### Proposed Hypotheses: 1. **Hypothesis 1:** The high significance of [HPS1](/details-gene/3257) in [M cells of the gut](/details-cell/CL0000682) suggests it is essential for the proper formation and function of the transcytotic machinery used for luminal antigen sampling. Dysfunction of [HPS1](/details-gene/3257) in these cells could lead to impaired mucosal immune surveillance, potentially contributing to the inflammatory complications, such as granulomatous colitis, seen in some HPS patients. 2. **Hypothesis 2:** In [naive T cells](/details-cell/CL0000898), where [HPS1](/details-gene/3257) shows its highest significance, the gene may regulate the trafficking of lysosomes to the immunological synapse upon T cell activation. This could be critical for delivering proteases that modulate signaling or for metabolic reprogramming through pathways like autophagy, thereby controlling the threshold and quality of the initial T cell response. ### Experimental Approach: To test the first hypothesis regarding the role of [HPS1](/details-gene/3257) in M cell function, a conditional knockout mouse model could be developed using a Cre-lox system with a specific M cell driver, such as *GP2*-Cre. Intestinal organoids derived from these mice could be co-cultured with RANKL to induce M cell differentiation. The efficiency of transcytosis could then be quantitatively assessed by exposing the apical side of the organoid culture to fluorescently labeled nanoparticles or bacteria and measuring their accumulation in the basolateral compartment. Furthermore, electron microscopy could be used to examine the ultrastructure of M cells and their endocytic vesicles in knockout versus wild-type animals to identify defects in organelle morphology. ### Therapeutic Potential: As Hermansky-Pudlak syndrome is a monogenic, loss-of-function disorder, the primary therapeutic strategy would involve **restoration** of HPS1 function. Gene therapy represents the most promising approach. Given the gene's critical role in multiple hematopoietic lineages, an *ex vivo* gene therapy strategy could be envisioned, where hematopoietic stem cells are harvested from a patient, corrected using a viral vector (e.g., lentivirus) carrying a functional [HPS1](/details-gene/3257) gene, and re-infused. This has the potential to correct the hematological defects, such as the platelet storage deficiency. However, addressing tissue-specific manifestations like pulmonary fibrosis or gastrointestinal inflammation may require different delivery systems or approaches capable of targeting affected somatic cells *in vivo*. [HPS1](/details-gene/3257) itself is not a suitable target for conventional small-molecule inhibition or activation.

Genular Protein ID: 414458902

Symbol: HPS1_HUMAN

Name: Hermansky-Pudlak syndrome 1 protein

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8896559

Title: Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.

PubMed ID: 8896559

DOI: 10.1038/ng1196-300

PubMed ID: 9182823

Title: Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.

PubMed ID: 9182823

DOI: 10.1111/1523-1747.ep12294634

PubMed ID: 9579545

Title: Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico.

PubMed ID: 9579545

DOI: 10.1046/j.1523-1747.1998.00183.x

PubMed ID: 10798370

Title: Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

PubMed ID: 10798370

DOI: 10.1007/s004390051053

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

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: 10094567

Title: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PubMed ID: 10094567

DOI: 10.1002/(sici)1098-1004(1999)13:2<99::aid-humu2>3.0.co;2-c

PubMed ID: 20048159

Title: Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.

PubMed ID: 20048159

DOI: 10.1074/jbc.m109.069088

PubMed ID: 23084991

Title: BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

PubMed ID: 23084991

DOI: 10.1016/j.cub.2012.09.020

PubMed ID: 9497254

Title: Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

PubMed ID: 9497254

DOI: 10.1086/301757

Sequence Information:

  • Length: 700
  • Mass: 79292
  • Checksum: 0885D3E2D64B3248
  • Sequence:
  • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
    MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF 
    GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC 
    ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL 
    VQDLYPSEST AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY 
    FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR IFLDANVKES 
    YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD GFSMLEKKLK EGPEPGASLR 
    SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE FKAKAFSKSE PGSSWELLQA CGKLKRQLCA 
    IYRLNFLTTA PSRGGPHLPQ HLQDQVQRLM REKLTDWKDF LLVKSRRNIT MVSYLEDFPG 
    LVHFIYVDRT TGQMVAPSLN CSQKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL 
    LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL RYYSKNRPTE 
    AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL

Genular Protein ID: 314998261

Symbol: A0A8V8TMQ9_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: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 580
  • Mass: 64760
  • Checksum: EF709B568B4DB3A4
  • Sequence:
  • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
    MLEKLSDTYT CFSTENGNFL YVLHLAAAPR PGAACPAVGA LPEPAVDLQP PAGAGAVLRR 
    GGDYWARESS GLEAVSHSAS SLRPADLLAL ILLVQDLYPS ESTAEDDIQE TDSFSLPEEY 
    FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR IFLDANVKES 
    YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD GFSMLEKKLK EGPEPGASLR 
    SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE FKAKAFSKSE PGSSWELLQA CGKLKRQLCA 
    IYRLNFLTTA PSRGGPHLPQ HLQDQVQRLM REKLTDWKDF LLVKSRRNIT MVSYLEDFPG 
    LVHFIYVDRT TGQMVAPSLN CSQKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL 
    LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL RYYSKNRPTE 
    AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL

Genular Protein ID: 2789724742

Symbol: Q658M9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 338
  • Mass: 38870
  • Checksum: 4EB05E84C68F929B
  • Sequence:
  • RTRGANVKES YCPLVPHTMY CLPLWQGINL VLLTRLMDGF SMLEKKLKEG PEPGASLRSQ 
    PLVGDLRQRM DKFVKNRGAQ EIQSTWLEFK AKAFSKSEPG SSWELLQACG KLKRQLCAIY 
    RLNFLTTAPS RGGPHLPQHL QDQVQRLMRE KLTDWKDFLL VKSRRNITMV SYLEDFPGLV 
    HFIYVDRTTG QMVAPSLNCS QKTSSELGKG PLAAFVKTKV WSLIQLARRY LQKGYTTLLF 
    QEGDFYCSYF LWFENDMGYK LQMIEVPVLS DDSVPIGMLG GDYYRKLLRY YSKNRPTEAV 
    RCYELLALHL SVIPTDLLVQ QAGQLARRLW EASRIPLL

Genular Protein ID: 3874902048

Symbol: H0Y4K4_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: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 291
  • Mass: 33061
  • Checksum: 27DAAC66A72E9882
  • Sequence:
  • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
    MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF 
    GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC 
    ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL 
    VQDLYPSEST AEDDIQETDS FSLPEEYFTP APSPGDQSSG EDRRKAGGNN S

Genular Protein ID: 2264334827

Symbol: A0A8V8TN94_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: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 613
  • Mass: 68175
  • Checksum: 5208D2F7523C2BCB
  • Sequence:
  • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
    MLEKLSDTYT CFSTENGNFL YVLHLAAAPR PGAACPAVGA LPEPAVDLQP PAGAGAVLRR 
    GGDYWARESS GLEAVSHSAS SLRPADLLAL ILLVQDLYPS ESTAEDDIQP SPRRARSSQN 
    IPVQQAWSPH STGPTGGSSA ETETDSFSLP EEYFTPAPSP GDQSSGSTIW LEGGTPPMDA 
    LQIAEDTLQT LVPHCPVPSG PRRIFLDANV KESYCPLVPH TMYCLPLWQG INLVLLTRSP 
    SAPLALVLSQ LMDGFSMLEK KLKEGPEPGA SLRSQPLVGD LRQRMDKFVK NRGAQEIQST 
    WLEFKAKAFS KSEPGSSWEL LQACGKLKRQ LCAIYRLNFL TTAPSRGGPH LPQHLQDQVQ 
    RLMREKLTDW KDFLLVKSRR NITMVSYLED FPGLVHFIYV DRTTGQMVAP SLNCSQKTSS 
    ELGKGPLAAF VKTKVWSLIQ LARRYLQKGY TTLLFQEGDF YCSYFLWFEN DMGYKLQMIE 
    VPVLSDDSVP IGMLGGDYYR KLLRYYSKNR PTEAVRCYEL LALHLSVIPT DLLVQQAGQL 
    ARRLWEASRI PLL

Genular Protein ID: 1936276520

Symbol: A0A0S2Z3U9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 324
  • Mass: 36476
  • Checksum: 02E16B04FDEB3E6A
  • Sequence:
  • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
    MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF 
    GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC 
    ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL 
    VQDLYPSEST AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY 
    FTPAPSPGDQ SSGEDRRKAG GNNS