HPS1 | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
B cell	13 studies	22% ± 4%	Explore
classical monocyte	12 studies	23% ± 8%	Explore
conventional dendritic cell	11 studies	28% ± 15%	Explore
macrophage	11 studies	22% ± 5%	Explore
natural killer cell	11 studies	23% ± 4%	Explore
CD16-positive, CD56-dim natural killer cell, human	10 studies	24% ± 4%	Explore
regulatory T cell	10 studies	18% ± 3%	Explore
non-classical monocyte	9 studies	27% ± 10%	Explore
naive B cell	9 studies	21% ± 2%	Explore
gamma-delta T cell	9 studies	21% ± 4%	Explore
CD8-positive, alpha-beta T cell	8 studies	20% ± 5%	Explore
memory B cell	8 studies	23% ± 4%	Explore
mucosal invariant T cell	8 studies	20% ± 4%	Explore
naive thymus-derived CD8-positive, alpha-beta T cell	7 studies	18% ± 1%	Explore
plasmacytoid dendritic cell	7 studies	24% ± 6%	Explore
CD16-negative, CD56-bright natural killer cell, human	6 studies	24% ± 4%	Explore
mature NK T cell	6 studies	20% ± 3%	Explore
dendritic cell	6 studies	32% ± 16%	Explore
epithelial cell	6 studies	28% ± 11%	Explore
erythrocyte	6 studies	31% ± 16%	Explore
monocyte	5 studies	17% ± 1%	Explore
CD4-positive, alpha-beta T cell	5 studies	17% ± 1%	Explore
effector memory CD8-positive, alpha-beta T cell	5 studies	22% ± 3%	Explore
myeloid cell	5 studies	25% ± 4%	Explore
CD4-positive, alpha-beta memory T cell	5 studies	19% ± 1%	Explore
erythroblast	4 studies	29% ± 14%	Explore
hematopoietic stem cell	4 studies	19% ± 2%	Explore
naive thymus-derived CD4-positive, alpha-beta T cell	4 studies	18% ± 1%	Explore
effector memory CD4-positive, alpha-beta T cell	4 studies	18% ± 3%	Explore
CD8-positive, alpha-beta memory T cell	4 studies	25% ± 11%	Explore
exhausted T cell	3 studies	22% ± 5%	Explore
ciliated cell	3 studies	17% ± 1%	Explore
effector CD4-positive, alpha-beta T cell	3 studies	19% ± 3%	Explore
effector CD8-positive, alpha-beta T cell	3 studies	22% ± 3%	Explore
intermediate monocyte	3 studies	32% ± 13%	Explore
astrocyte	3 studies	20% ± 2%	Explore
basal cell	3 studies	22% ± 3%	Explore
goblet cell	3 studies	17% ± 1%	Explore
effector memory CD8-positive, alpha-beta T cell, terminally differentiated	3 studies	22% ± 5%	Explore
double negative thymocyte	3 studies	25% ± 2%	Explore
T cell	3 studies	18% ± 3%	Explore
abnormal cell	3 studies	20% ± 3%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
peripheral blood	10 studies	21% ± 3%	Explore
lung	3 studies	19% ± 3%	Explore
brain	3 studies	22% ± 3%	Explore
intestine	3 studies	19% ± 3%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
esophagus	100%	4470.56	1445 / 1445	100%	43.32	183 / 183
skin	100%	4608.63	1809 / 1809	100%	76.93	472 / 472
stomach	100%	3920.32	359 / 359	100%	46.82	286 / 286
uterus	100%	5002.76	170 / 170	100%	39.91	459 / 459
thymus	100%	4933.36	653 / 653	100%	53.53	604 / 605
ovary	100%	4182.91	180 / 180	100%	38.25	429 / 430
liver	100%	2827.93	226 / 226	100%	32.69	405 / 406
lung	100%	5237.34	578 / 578	100%	41.11	1151 / 1155
intestine	100%	5513.97	966 / 966	100%	46.80	525 / 527
bladder	100%	5288.81	21 / 21	100%	40.57	502 / 504
kidney	100%	3975.93	89 / 89	100%	44.21	897 / 901
pancreas	100%	2816.27	328 / 328	99%	44.75	177 / 178
breast	100%	4840.60	459 / 459	99%	40.59	1107 / 1118
adrenal gland	100%	5490.07	258 / 258	99%	33.97	227 / 230
prostate	100%	5962.47	245 / 245	96%	40.88	481 / 502
brain	100%	2939.70	2629 / 2642	89%	18.56	625 / 705
adipose	100%	4737.83	1204 / 1204	0%	0	0 / 0
blood vessel	100%	4837.91	1335 / 1335	0%	0	0 / 0
eye	0%	0	0 / 0	100%	103.80	80 / 80
lymph node	0%	0	0 / 0	100%	76.49	29 / 29
peripheral blood	100%	7520.46	929 / 929	0%	0	0 / 0
spleen	100%	7802.87	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	39.83	45 / 45
ureter	0%	0	0 / 0	100%	18.55	1 / 1
heart	98%	2386.69	846 / 861	0%	0	0 / 0
muscle	89%	1325.03	715 / 803	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

III. Associated gene sets

GO_0007040	Biological process	lysosome organization
GO_0007601	Biological process	visual perception
GO_1903232	Biological process	melanosome assembly
GO_0016192	Biological process	vesicle-mediated transport
GO_0046907	Biological process	intracellular transport
GO_0060155	Biological process	platelet dense granule organization
GO_0031085	Cellular component	BLOC-3 complex
GO_0005764	Cellular component	lysosome
GO_0005829	Cellular component	cytosol
GO_0031410	Cellular component	cytoplasmic vesicle
GO_0005737	Cellular component	cytoplasm
GO_0005085	Molecular function	guanyl-nucleotide exchange factor activity
GO_0046983	Molecular function	protein dimerization activity
GO_0005515	Molecular function	protein binding

IV. Literature review

[source]

Gene name	HPS1
Protein name	Hermansky-Pudlak syndrome 1 isoform 7 BLOC-3 complex member HPS1 (Hermansky-Pudlak syndrome 1 protein) Hermansky-Pudlak syndrome 1 isoform 4 Hermansky-Pudlak syndrome 1 isoform 9 Hermansky-Pudlak syndrome 1 protein isoform HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 (Hermansky-Pudlak syndrome 1 isoform 3) HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 (Hermansky-Pudlak syndrome 1 isoform 6) HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 Hermansky-Pudlak syndrome 1 isoform 5 Hermansky-Pudlak syndrome 1 isoform 8 Hermansky-Pudlak syndrome 1 isoform 2 Hermansky-Pudlak syndrome 1 isoform 1
Synonyms	HPS
Description	FUNCTION: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 . .
Accessions	A0A8V8TP59 A0A8V8TN79 ENST00000699120.1 A0A8V8TPJ1 ENST00000699129.1 A0A0S2Z445 ENST00000699153.1 ENST00000699131.1 A0A8V8TP64 ENST00000699123.1 ENST00000467246.5 H0Y4K4 A0A8V8TMR9 ENST00000699133.1 A0A0S2Z3X2 A0A0S2Z3T0 ENST00000699141.1 ENST00000699159.1 A0A0S2Z3Z8 ENST00000699144.1 A0A0S2Z3Z0 ENST00000699135.1 ENST00000699128.1 ENST00000699121.1 A0A8V8TMS4 ENST00000699136.1 [Q92902-2] ENST00000338546.9 [Q92902-3] ENST00000699125.1 ENST00000699119.1 A0A1P8NQB7 ENST00000699146.1 ENST00000325103.10 [Q92902-1] ENST00000414009.2 A0A8V8TMR7 ENST00000699122.1 ENST00000699142.1 [Q92902-1] Q92902 ENST00000699138.1 A0A8V8TP71 ENST00000699147.1 A0A8V8TMQ9 A0A8V8TN99 ENST00000699145.1 [Q92902-1] A0A8V8TPI6 ENST00000699113.1 A0A8V8TN90 ENST00000699143.1 ENST00000699118.1 A0A8V8TP54 A0A8V8TN94 A0A0S2Z3U9 ENST00000699140.1 [Q92902-2] A0A0S2Z4H4 ENST00000699112.1 ENST00000361490.9 [Q92902-1] ENST00000699137.1 A0A0S2Z4N3 ENST00000699139.1 ENST00000699115.1 ENST00000699134.1 A0A8V8TN86

HPS1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review