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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


HPS4 Hermansky-Pudlak syndrome 4 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_022081 Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_152841 Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724353 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724354 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724355 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724356 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724357 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724358 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724359 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724360 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006724361 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X9, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006724362 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X10, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006724363 PREDICTED: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant X11, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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Gene Symbol HPS4
Entrez Gene ID 89781
Full Name Hermansky-Pudlak syndrome 4
Synonyms LE
General protein information
Preferred Names
Hermansky-Pudlak syndrome 4 protein
Names
Hermansky-Pudlak syndrome 4 protein
light-ear protein homolog
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22cen-q12.3

Summary This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012].
Disorder

MIM: 606682

Hermansky-Pudlak syndrome 4, 203300 (3)

mRNA Protein Product Sequence Price Select
NM_022081, 402744291 NP_071364, 23110966 Hermansky-Pudlak syndrome 4 protein isoform a ORF Sequence $700.00
NM_152841, 402744305 NP_690054, 23110970 Hermansky-Pudlak syndrome 4 protein isoform b ORF Sequence $700.00
XM_006724353, 578837478 XP_006724416, 578837479 Hermansky-Pudlak syndrome 4 protein isoform X1 ORF Sequence $700.00
XM_006724354, 578837480 XP_006724417, 578837481 Hermansky-Pudlak syndrome 4 protein isoform X2 ORF Sequence $700.00
XM_006724355, 578837482 XP_006724418, 578837483 Hermansky-Pudlak syndrome 4 protein isoform X3 ORF Sequence $700.00
XM_006724356, 578837484 XP_006724419, 578837485 Hermansky-Pudlak syndrome 4 protein isoform X4 ORF Sequence $700.00
XM_006724357, 578837486 XP_006724420, 578837487 Hermansky-Pudlak syndrome 4 protein isoform X5 ORF Sequence $700.00
XM_006724358, 578837488 XP_006724421, 578837489 Hermansky-Pudlak syndrome 4 protein isoform X6 ORF Sequence $700.00
XM_006724359, 578837490 XP_006724422, 578837491 Hermansky-Pudlak syndrome 4 protein isoform X7 ORF Sequence $700.00
XM_006724360, 578837492 XP_006724423, 578837493 Hermansky-Pudlak syndrome 4 protein isoform X8 ORF Sequence $550.00
XM_006724361, 578837494 XP_006724424, 578837495 Hermansky-Pudlak syndrome 4 protein isoform X9 ORF Sequence $550.00
XM_006724362, 578837496 XP_006724425, 578837497 Hermansky-Pudlak syndrome 4 protein isoform X10 ORF Sequence $550.00
XM_006724363, 578837498 XP_006724426, 578837499 Hermansky-Pudlak syndrome 4 protein isoform X11 ORF Sequence $550.00
Homo sapiens (human)HPS4NP_071364.4
Pan troglodytes (chimpanzee)HPS4XP_001172017.1
Macaca mulatta (Rhesus monkey)HPS4XP_001099509.1
Canis lupus familiaris (dog)HPS4XP_543456.2
Bos taurus (cattle)HPS4NP_001069836.2
Mus musculus (house mouse)Hps4NP_619587.3
Rattus norvegicus (Norway rat)Hps4NP_001100618.1
Gallus gallus (chicken)HPS4XP_415198.3
Xenopus (Silurana) tropicalis (western clawed frog)hps4NP_001072472.1
Process
IDNameEvidence
GO:0006605protein targetingIDA
GO:0007040lysosome organizationIDA
GO:0007596blood coagulationIEA
GO:0007599hemostasisTAS
GO:0030318melanocyte differentiationIEA
GO:0048075positive regulation of eye pigmentationTAS
GO:0050821protein stabilizationIPI
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005764lysosomeIDA
GO:0016020membraneIDA
GO:0031085BLOC-3 complexIPI
GO:0042470melanosomeIDA
GO:0042827platelet dense granuleIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0042803protein homodimerization activityIPI
GO:0046983protein dimerization activityIPI
GeneCards HPS4
UniProt Q9NQG7, A8K2E6, Q6P1K3
Vega OTTHUMG00000030459
MIM 606682
Ensembl ENSG00000100099
HGNC 15844
HPRD 05983

Related articles in PubMed

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

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