Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | HPS1 | contributors: mct/npt - updated : 17-01-2017 |
HGNC name | Hermansky-Pudlak syndrome 1 |
HGNC id | 5163 |
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Corresponding disease |
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Location | 10q24.2 Physical location : 100.175.955 - 100.206.704 | ||
Synonym name | Hermansky-Pudlak syndrome | ||
Synonym symbol(s) | HPS, MGC5277, BLOC-3, BLOC3S1 |
DNA |
TYPE | functioning gene |
SPECIAL FEATURE | head to head, opposite orientation |
text | head to head arranged with ADK |
STRUCTURE | 31.90 kb 20 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
Map | cen - D10S571 /D10S1229 - D10S577 /D10S1768 - [D10S1433 - D10S110 /D10S184 - D10S2436 - D10S198 ] - D10S603 - qter |
Authors | Oh (96) |
Text | [HPS ] |
RNA |
TRANSCRIPTS | type | messenger |
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text | other variants, most of them lacking exon 9 (Oh) |
EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | pregnancy |
Text | placenta |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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HOMOLOGY |
interspecies | ortholog to rattus Hps1 |
ortholog to murine Hps1 |
Homologene |
FAMILY |
CATEGORY | immunity/defense |
SUBCELLULAR LOCALIZATION | extracellular |
plasma membrane | |
intracellular | |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,organelle,lysosome | |
intracellular,cytoplasm,cytosolic,vesicle |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling | sensory transduction/vision |
a component | |
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INTERACTION |
DNA |
RNA |
small molecule |
protein | |
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cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | HPS |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |