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Source |
Alliance of Genome Resources |



| Category | ID | Classification term | Gene | Evidence | Inferred from | Organism | Reference |
|---|---|---|---|---|---|---|---|
| Molecular Function | GO:0005085 | guanyl-nucleotide exchange factor activity | HPS1 | IDA | Human | PMID:23084991 | |
| Molecular Function | GO:0005515 | protein binding | HPS1 | IPI | UniProtKB:Q9NQG7 | Human | PMID:12756248 |
| Molecular Function | GO:0005515 | protein binding | HPS1 | IPI | UniProtKB:Q9NQG7 | Human | PMID:20048159 |
| Molecular Function | GO:0046983 | protein dimerization activity | HPS1 | IPI | UniProtKB:Q9NQG7 | Human | PMID:12663659 |
| Cellular Component | GO:0031085 | BLOC-3 complex | HPS1 | IPI | Human | PMID:20048159 | |
| Cellular Component | GO:0031085 | BLOC-3 complex | HPS1 | IPI | UniProtKB:Q9NQG7 | Human | PMID:12756248 |
| Cellular Component | GO:0031085 | BLOC-3 complex | HPS1 | IPI | UniProtKB:Q9NQG7 | Human | PMID:20048159 |
| Cellular Component | GO:0031085 | BLOC-3 complex | HPS1 | IPI | UniProtKB:Q9NQG7 | Human | PMID:23084991 |
| Cellular Component | GO:0005737 | cytoplasm | HPS1 | IDA | Human | PMID:12756248 | |
| Cellular Component | GO:0031410 | cytoplasmic vesicle | HPS1 | IDA | Human | PMID:11836498 | |
| Biological Process | GO:0007596 | blood coagulation | Hps1 | IMP | MGI:MGI:1856712 | Mouse | PMID:6696991 |
| Biological Process | GO:0000902 | cell morphogenesis | Hps1 | IGI | MGI:MGI:1333879 | Mouse | PMID:12777251 |
| Biological Process | GO:0048069 | eye pigmentation | Hps1 | IMP | Mouse | PMID:21052544 | |
| Biological Process | GO:0010467 | gene expression | Hps1 | IMP | Mouse | PMID:31272455 | |
| Biological Process | GO:0006954 | inflammatory response | Hps1 | IGI | MGI:MGI:2177763 | Mouse | PMID:12777251 |
| Biological Process | GO:0006882 | intracellular zinc ion homeostasis | Hps1 | IMP | Mouse | PMID:30786955 | |
| Biological Process | GO:0030324 | lung development | Hps1 | IGI | MGI:MGI:1333879 | Mouse | PMID:12777251 |
| Biological Process | GO:0060425 | lung morphogenesis | Hps1 | IGI | MGI:MGI:1333879 | Mouse | PMID:12777251 |
| Biological Process | GO:0007040 | lysosome organization | Hps1 | IMP | Mouse | PMID:30786955 | |
| Biological Process | GO:0030318 | melanocyte differentiation | Hps1 | IMP | MGI:MGI:1856712 | Mouse | PMID:11836498 |
| Biological Process | GO:1903232 | melanosome assembly | HPS1 | IDA | Human | PMID:23084991 | |
| Biological Process | GO:0006996 | organelle organization | Hps1 | IMP | MGI:MGI:1856712 | Mouse | PMID:11836498 |
| Biological Process | GO:0043473 | pigmentation | Hps1 | IMP | MGI:MGI:1856712 | Mouse | PMID:2379821 |
| Biological Process | GO:0043473 | pigmentation | Hps1 | IMP | MGI:MGI:1856712 | Mouse | PMID:7089489 |
| Biological Process | GO:0032816 | positive regulation of natural killer cell activation | Hps1 | IMP | MGI:MGI:1856712 | Mouse | PMID:7089489 |
| Biological Process | GO:0003016 | respiratory system process | Hps1 | IGI | MGI:MGI:2177763 | Mouse | PMID:12777251 |
| Biological Process | GO:0060041 | retina development in camera-type eye | Hps1 | IMP | Mouse | PMID:21052544 | |
| Biological Process | GO:0033299 | secretion of lysosomal enzymes | Hps1 | IMP | MGI:MGI:1856712 | Mouse | PMID:7089489 |
| Biological Process | GO:0007338 | single fertilization | Hps1 | IMP | Mouse | PMID:30786955 | |
| Biological Process | GO:0007283 | spermatogenesis | Hps1 | IMP | Mouse | PMID:30786955 |
| EXP Inferred from experiment |
| IDA Inferred from direct assay |
| IEP Inferred from expression pattern |
| IGI Inferred from genetic interaction |
| IMP Inferred from mutant phenotype |
| IPI Inferred from physical interaction |
| HTP Inferred from High Throughput Experiment |
| HDA Inferred from High Throughput Direct Assay |
| HMP Inferred from High Throughput Mutant Phenotype |
| HGI Inferred from High Throughput Genetic Interaction |
| HEP Inferred from High Throughput Expression Pattern |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 01/06/2026 MGI 6.24 |
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