ENSG00000163755
Homo sapiens | |
Features
| Gene ID: | ENSG00000163755 | | | | | Biological name : | HPS3 | | | | | Synonyms : | HPS3 / HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 / Q969F9 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | 1 | | Band: | q24 | | Gene start: | 149129584 | | Gene end: | 149173732 | | | | | Corresponding Affymetrix probe sets: | 227139_s_at (Human Genome U133 Plus 2.0 Array) 231121_at (Human Genome U133 Plus 2.0 Array) 238539_at (Human Genome U133 Plus 2.0 Array) 241036_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000296051
Ensembl peptide - ENSP00000418230
Ensembl peptide - ENSP00000419824
NCBI entrez gene - 84343
See in Manteia.
OMIM - 606118
RefSeq - XM_017007323
RefSeq - NM_001308258
RefSeq - NM_032383
RefSeq - XM_005247834
RefSeq Peptide - NP_001295187
RefSeq Peptide - NP_115759
swissprot - H7C5G2
swissprot - Q969F9
swissprot - G5E9V4
Ensembl - ENSG00000163755
| | | | | Related genetic diseases (OMIM): | 614072 - Hermansky-Pudlak syndrome 3, 614072 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
| IPR017216 | Hermansky-Pudlak syndrome 3 protein | | IPR028167 | Hermansky-Pudlak syndrome 3, central region | | IPR029437 | Hermansky-Pudlak syndrome 3 protein, N-terminal domain | | IPR029438 | Hermansky-Pudlak syndrome 3 protein, C-terminal domain |
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000505 | Impaired vision | |
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| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| | HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| | HP:0011883 | Abnormal platelet granules | "An anomaly of alpha or dense granules or platelet lysososmes." [DDD:wouwehand] |
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Interacting proteins (from Reactome)
No match
0 s.
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