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Sequence in raw or FASTA format:

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HPS6 Hermansky-Pudlak syndrome 6 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu19197 NM_024747 Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu19197C NM_024747 Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. Customized vector On-demand 12-14 $329.00

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Gene Symbol HPS6
Entrez Gene ID 79803
Full Name Hermansky-Pudlak syndrome 6
Synonyms
General protein information
Preferred Names
Hermansky-Pudlak syndrome 6 protein
Names
Hermansky-Pudlak syndrome 6 protein
ruby-eye protein homolog
Hermansky-Pudlak syndrome-6 protein (HPS6)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

10

10q24.32

Summary This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008].
Disorder

MIM: 607522

Hermansky-Pudlak syndrome 6, 203300 (3)

mRNA Protein Product Sequence Price Select
NM_024747, 322310373 NP_079023, 31881785 Hermansky-Pudlak syndrome 6 protein ORF Sequence $750.00
Homo sapiens (human)HPS6NP_079023.2
Pan troglodytes (chimpanzee)HPS6XP_001170704.1
Macaca mulatta (Rhesus monkey)HPS6XP_001111761.1
Canis lupus familiaris (dog)HPS6XP_851823.2
Bos taurus (cattle)HPS6NP_001075055.1
Mus musculus (house mouse)Hps6NP_789742.2
Rattus norvegicus (Norway rat)Hps6NP_852097.1
Gallus gallus (chicken)HPS6XP_001233664.1
Danio rerio (zebrafish)LOC101882947XP_005156992.1
Xenopus (Silurana) tropicalis (western clawed frog)hps6XP_002940614.2
Process
IDNameEvidence
GO:0006996organelle organizationIEA
GO:0007596blood coagulationIEA
GO:0030318melanocyte differentiationIEA
GO:0072657protein localization to membraneIMP
Component
IDNameEvidence
GO:0005783endoplasmic reticulumIEA
GO:0016020membraneIDA
GO:0031084BLOC-2 complexIPI
GO:0031901early endosome membraneIEA
Function
IDNameEvidence
GO:0017137Rab GTPase bindingIPI
GO:0030742GTP-dependent protein bindingIPI
GeneCards HPS6
UniProt Q86YV9
Vega OTTHUMG00000018945
MIM 607522
Ensembl ENSG00000166189
HGNC 18817
HPRD 08471

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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