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HPS6 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol HPS6
Entrez Gene ID 79803
Full Name HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Synonyms BLOC2S3
General protein information
Preferred Names

HPS6, biogenesis of lysosomal organelles complex 2 subunit 3

Names

Hermansky-Pudlak syndrome 6 protein
Hermansky-Pudlak syndrome-6 protein (HPS6)
ruby-eye protein homolog

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

10

10q24.32

Disorder MIM:

607522

Disorder Html: Hermansky-Pudlak syndrome 6, 203300 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_024747.5 NP_079023.2 Hermansky-Pudlak syndrome 6 protein



Canis lupus familiaris (dog) HPS6 XP_851823.2
Pan troglodytes (chimpanzee) HPS6 XP_001170704.1
Rattus norvegicus (Norway rat) Hps6 NP_852097.1
Macaca mulatta (rhesus monkey) HPS6 XP_001111761.1
Mus musculus (house mouse) Hps6 NP_789742.2
Gallus gallus (chicken) HPS6 XP_001233664.1
Danio rerio (zebrafish) LOC101882947 XP_005156992.1
Xenopus tropicalis (tropical clawed frog) hps6 XP_002940614.2
Homo sapiens (human) HPS6 NP_079023.2
Bos taurus (cattle) HPS6 NP_001075055.1


Related articles in PubMed

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.
Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N
Journal of human genetics61(9)839-42(2016 Sep)

HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
Li K, Yang L, Zhang C, Niu Y, Li W, Liu JJ
Journal of cell science127(Pt 21)4574-88(2014 Nov)

BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.
Bultema JJ, Ambrosio AL, Burek CL, Di Pietro SM
The Journal of biological chemistry287(23)19550-63(2012 Jun)

Targeting protein-trafficking pathways alters melanoma treatment sensitivity.
Huang ZM, Chinen M, Chang PJ, Xie T, Zhong L, Demetriou S, Patel MP, Scherzer R, Sviderskaya EV, Bennett DC, Millhauser GL, Oh DH, Cleaver JE, Wei ML
Proceedings of the National Academy of Sciences of the United States of America109(2)553-8(2012 Jan)

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

the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk.
Title: A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.

Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant.
Title: The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

we report novel HPS6 mutations as the first report of HPS6 mutations in the Japanese population. The clinical features in the two sisters suggest OA. Although the patients in this study showed no bleeding problem, we could establish a diagnosis of HPS-6 by WES.
Title: Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes
Title: HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.

Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis-diaminedichloroplatinum II treatment.
Title: Targeting protein-trafficking pathways alters melanoma treatment sensitivity.

The following HPS6 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the HPS6 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu19197 NM_024747.5
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Homo sapiens HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu19197
Clone ID Related Accession (Same CDS sequence) NM_024747.5
Accession Version NM_024747.5 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 2328bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-09
Organism Homo sapiens(Human)
Product Hermansky-Pudlak syndrome 6 protein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI761726.1, BC011594.1 and BC080564.1. This sequence is a reference standard in the RefSeqGene project. On Feb 5, 2011 this sequence version replaced NM_024747.4. ##Evidence-Data-START## Transcript is intronless :: BC014993.1 [ECO:0000345] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
1981
2041
2101
2161
2221
2281
ATGAAGCGCT CGGGGACTCT GCGGCTGCTC TCGGACCTGA GCGCCTTCGG CGGCGCGGCG 
CGGCTCCGGG AGCTGGTGGC CGGGGACTCA GCGGTCCGAG TCCGTGGCAG TCCGGACGGC
CGCCACTTGC TGCTCCTGCG ACCCCCTGGG GCGGTAGCCC CACAGCTGCT AGTCGCGTCG
CGAGGGCCCG GCGCGGAGCT AGAGCGGGCC TGGCCGGCCG GCCAGCCCTC CCCGCTGGAC
GCCTTCTTCC TGCCGTGGCC AGCGCGGCCG GCGCTGGTGC TGGTGTGGGA GAGTGGCCTG
GCCGAGGTGT GGGGCGCGGG CGTGGGGCCT GGCTGGCGGC CGCTGCAGAG CACCGAGCTG
TGTCCGGGCG GGGGAGCCCG CGTTGTGGCA GTGGCGGCGC TCCGAGGCCG CCTGGTGTGG
TGCGAGGAGC GGCAGGCCCG GGCCGAGGGC CCGTCAGGGT CGCCAGCAGC CGCTTTCAGC
CACTGTGTGT GCGTCCGGAC TCTGGAGCCC AGCGGGGAAG CTAGCACCAG CCTGGGCCGC
ACACACGTCC TGCTGCACCA CTGCCCTGCC TTCGGGCTGC TGGCCTCCTG CAGACAACTC
TTCCTGGTGC CCACTGCCAC CACCTGGCCT GGCGTGGCCC ACGTTCTACT CATCTGGAGC
CCAGGCAAGG GCAAAGTGAT GGTGGCTGCC CCACGGCTTG GTCTCTCCTA CAGTAAGAGT
CTGAATCCTG GACGAGGGGA CACATGGGAC TTCCGGACCC TGCTCCGAGG CCTTCCTGGG
TTGCTGTCCC CCAGGGAGCC ACTGGCTGTA CACACCTGGG CCCCAACTCC CCAGGGCCTG
CTGTTGCTTG ACTTCGGGGG CACTGTGAGC CTATTGCAGT CCCACGGTGG TACGCGGGCT
GTGGGCACCC TGCAGGAGGC ACCTGTAGGC CCGTGGGGGT CTGCAGCCCT AGGCACATTT
CAGGGCACTC TGGCCTGTGT GCTGGGCTCC ACATTGGAAC TGCTGGACAT GGGCAGTGGG
CAGCTGCTGG AGAGGAAGGT CCTAAGTACA GACAGGGTAC ATCTGCTAGA ACCGCCAGCC
CCCGGCATGG AGGATGAGGA AGAGCTGGAG ACCCGAGGGA ATCTTCGTCT GCTTTCAGCC
TTGGGTCTGT TTTGTGTGGG CTGGGAAGCC CCACAGGGTG TTGAGTTGCC TTCAGCCAAG
GATCTGGTGT TTGAGGAGGC CTGCGGGTAC TACCAGCGGC GGAGCCTGCG GGGTGCCCAG
CTCACTCCAG AAGAACTGAG ACACAGCAGC ACATTCCGGG CACCTCAGGC TCTGGCCTCC
ATCCTCCAGG GCCACCTGCC CCCATCTGCA CTGCTGACCA TGTTGAGGAC CGAGCTTCGG
GATTACCGAG GCTTAGAACA GCTGAAGGCC CAGCTGGTGG CTGGGGATGA TGAGGAGGCT
GGTTGGACTG AGCTGGCGGA GCAGGAAGTG GCACGCCTGC TGAGGACTGA GTTGATAGGA
GACCAGCTAG CCCAGCTCAA CACCGTTTTC CAAGCCCTTC CTACAGCAGC CTGGGGTGCC
ACCCTCAGGG CCCTGCAGCT CCAGCTAGAT GGGAATGGCA AGCTGAGGTC CCAAGCACCC
CCTGATGTGT GGAAGAAAGT GTTAGGGGGA ATAACCGCTG GAAAGGAACC CCCCAATGGA
ATACTGCCCC CCTTTGAACT CCTGTGCCAG TGTCTGTGCC AGCTGGAGCC TCGATGGCTG
CCACCCTTTG TGGAGCTGGC ACAGCAGCAG GGCGGGCCGG GCTGGGGGGC AGGGGGCCCA
GGACTGCCCC TGTATCGCCG AGCTCTGGCA GTGCTAGGTG AGGAGGGGAC CAGGCCTGAG
GCTCTGGAGC TAGAGCTGCT CTTGAGCAGT GGGCGGCCTA AAGCTGTGCT CCAAGCTGTC
GGGCAGCTGG TGCAAAAGGA ACAATGGGAT CGGGCTCTGG ATGCTGGCCT GGCCCTCGGC
CCCTCCAGTC CCCTGCTTCG AAGTGAAATC TTCAAACTGC TGCTGGCCGA GTTTGCCCAG
CACCGCCGGC TTGATGCTCA CCTCCCCCTC CTTTGCCGCC TGTGCCCACC AGAACTGGCT
CCAGCTGAGC TCCTGCTTCT ACTGAGGACA TACCTCCCAG ATGAGGTGGG GCCCCCAACC
CCATTCCCTG AGCCTGGAGC AGAGCCCCCT CTCACTGTGG GCTTGCTCAA AGCCCTGCTG
GAGCAGACTG GGGCTCAAGG ATGGCTGTCG GGCCCAGTTC TAAGCCCATA TGAGGACATC
CTATGGGACC CCAGCACTCC ACCCCCGACT CCACCTCGGG ACCTATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_079023.2
CDS109..2436
Exon (1)1..2672
Translation

Target ORF information:

RefSeq Version NM_024747.5
Organism Homo sapiens(Human)
Definition Homo sapiens HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_024747.5

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
1981
2041
2101
2161
2221
2281
ATGAAGCGCT CGGGGACTCT GCGGCTGCTC TCGGACCTGA GCGCCTTCGG CGGCGCGGCG 
CGGCTCCGGG AGCTGGTGGC CGGGGACTCA GCGGTCCGAG TCCGTGGCAG TCCGGACGGC
CGCCACTTGC TGCTCCTGCG ACCCCCTGGG GCGGTAGCCC CACAGCTGCT AGTCGCGTCG
CGAGGGCCCG GCGCGGAGCT AGAGCGGGCC TGGCCGGCCG GCCAGCCCTC CCCGCTGGAC
GCCTTCTTCC TGCCGTGGCC AGCGCGGCCG GCGCTGGTGC TGGTGTGGGA GAGTGGCCTG
GCCGAGGTGT GGGGCGCGGG CGTGGGGCCT GGCTGGCGGC CGCTGCAGAG CACCGAGCTG
TGTCCGGGCG GGGGAGCCCG CGTTGTGGCA GTGGCGGCGC TCCGAGGCCG CCTGGTGTGG
TGCGAGGAGC GGCAGGCCCG GGCCGAGGGC CCGTCAGGGT CGCCAGCAGC CGCTTTCAGC
CACTGTGTGT GCGTCCGGAC TCTGGAGCCC AGCGGGGAAG CTAGCACCAG CCTGGGCCGC
ACACACGTCC TGCTGCACCA CTGCCCTGCC TTCGGGCTGC TGGCCTCCTG CAGACAACTC
TTCCTGGTGC CCACTGCCAC CACCTGGCCT GGCGTGGCCC ACGTTCTACT CATCTGGAGC
CCAGGCAAGG GCAAAGTGAT GGTGGCTGCC CCACGGCTTG GTCTCTCCTA CAGTAAGAGT
CTGAATCCTG GACGAGGGGA CACATGGGAC TTCCGGACCC TGCTCCGAGG CCTTCCTGGG
TTGCTGTCCC CCAGGGAGCC ACTGGCTGTA CACACCTGGG CCCCAACTCC CCAGGGCCTG
CTGTTGCTTG ACTTCGGGGG CACTGTGAGC CTATTGCAGT CCCACGGTGG TACGCGGGCT
GTGGGCACCC TGCAGGAGGC ACCTGTAGGC CCGTGGGGGT CTGCAGCCCT AGGCACATTT
CAGGGCACTC TGGCCTGTGT GCTGGGCTCC ACATTGGAAC TGCTGGACAT GGGCAGTGGG
CAGCTGCTGG AGAGGAAGGT CCTAAGTACA GACAGGGTAC ATCTGCTAGA ACCGCCAGCC
CCCGGCATGG AGGATGAGGA AGAGCTGGAG ACCCGAGGGA ATCTTCGTCT GCTTTCAGCC
TTGGGTCTGT TTTGTGTGGG CTGGGAAGCC CCACAGGGTG TTGAGTTGCC TTCAGCCAAG
GATCTGGTGT TTGAGGAGGC CTGCGGGTAC TACCAGCGGC GGAGCCTGCG GGGTGCCCAG
CTCACTCCAG AAGAACTGAG ACACAGCAGC ACATTCCGGG CACCTCAGGC TCTGGCCTCC
ATCCTCCAGG GCCACCTGCC CCCATCTGCA CTGCTGACCA TGTTGAGGAC CGAGCTTCGG
GATTACCGAG GCTTAGAACA GCTGAAGGCC CAGCTGGTGG CTGGGGATGA TGAGGAGGCT
GGTTGGACTG AGCTGGCGGA GCAGGAAGTG GCACGCCTGC TGAGGACTGA GTTGATAGGA
GACCAGCTAG CCCAGCTCAA CACCGTTTTC CAAGCCCTTC CTACAGCAGC CTGGGGTGCC
ACCCTCAGGG CCCTGCAGCT CCAGCTAGAT GGGAATGGCA AGCTGAGGTC CCAAGCACCC
CCTGATGTGT GGAAGAAAGT GTTAGGGGGA ATAACCGCTG GAAAGGAACC CCCCAATGGA
ATACTGCCCC CCTTTGAACT CCTGTGCCAG TGTCTGTGCC AGCTGGAGCC TCGATGGCTG
CCACCCTTTG TGGAGCTGGC ACAGCAGCAG GGCGGGCCGG GCTGGGGGGC AGGGGGCCCA
GGACTGCCCC TGTATCGCCG AGCTCTGGCA GTGCTAGGTG AGGAGGGGAC CAGGCCTGAG
GCTCTGGAGC TAGAGCTGCT CTTGAGCAGT GGGCGGCCTA AAGCTGTGCT CCAAGCTGTC
GGGCAGCTGG TGCAAAAGGA ACAATGGGAT CGGGCTCTGG ATGCTGGCCT GGCCCTCGGC
CCCTCCAGTC CCCTGCTTCG AAGTGAAATC TTCAAACTGC TGCTGGCCGA GTTTGCCCAG
CACCGCCGGC TTGATGCTCA CCTCCCCCTC CTTTGCCGCC TGTGCCCACC AGAACTGGCT
CCAGCTGAGC TCCTGCTTCT ACTGAGGACA TACCTCCCAG ATGAGGTGGG GCCCCCAACC
CCATTCCCTG AGCCTGGAGC AGAGCCCCCT CTCACTGTGG GCTTGCTCAA AGCCCTGCTG
GAGCAGACTG GGGCTCAAGG ATGGCTGTCG GGCCCAGTTC TAAGCCCATA TGAGGACATC
CTATGGGACC CCAGCACTCC ACCCCCGACT CCACCTCGGG ACCTATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.
Journal of human genetics61(9)839-42(2016 Sep)
Miyamichi D,Asahina M,Nakajima J,Sato M,Hosono K,Nomura T,Negishi T,Miyake N,Hotta Y,Ogata T,Matsumoto N


book

HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
Journal of cell science127(Pt 21)4574-88(2014 Nov)
Li K,Yang L,Zhang C,Niu Y,Li W,Liu JJ


book

BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.
The Journal of biological chemistry287(23)19550-63(2012 Jun)
Bultema JJ,Ambrosio AL,Burek CL,Di Pietro SM


book

Targeting protein-trafficking pathways alters melanoma treatment sensitivity.
Proceedings of the National Academy of Sciences of the United States of America109(2)553-8(2012 Jan)
Huang ZM,Chinen M,Chang PJ,Xie T,Zhong L,Demetriou S,Patel MP,Scherzer R,Sviderskaya EV,Bennett DC,Millhauser GL,Oh DH,Cleaver JE,Wei ML


 
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