HPS6 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

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	Chromosome: 10 Map Location: 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
Disorder Html:	Hermansky-Pudlak syndrome 6, 614075 (3)

mRNA and Protein(s)

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

Pathways from BioSystems

Homologies

Canis lupus familiaris (dog)	HPS6	XP_851823.2
Pan troglodytes (chimpanzee)	HPS6	XP_001170704.1
Rattus norvegicus (Norway rat)	Hps6	NP_852097.1
	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

Gene Ontology
Bibliography

Related articles in PubMed

A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
Andres O, Wiegering V, K?nig EM, Schneider AL, Semeniak D, Stritt S, Klopocki E, Schulze H
Pediatric blood & cancer64(5)(2017 May)

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.
Hull S, Arno G, Holder GE, Plagnol V, Gomez K, Liesner R, Webster AR, Moore AT
The British journal of ophthalmology100(11)1521-1524(2016 Nov)

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR
Molecular genetics and metabolism119(3)284-287(2016 11)

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)

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.

Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6
Title: Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

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.

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.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu19197	NM_024747.6 Latest version!	Homo sapiens HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$279.50-$391.30 $559.00
View Old Accession Versions >>
OHu19197	NM_024747.5	Homo sapiens HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$279.50-$391.30 $559.00
Hide Old Accession Versions >>

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** 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.

Reference Sequences (Refseq)

HPS6 ( NM_024747.5 ) cDNA ORF clone, Homo sapiens(human) -> NP_079023.2 Homo sapiens HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6), mRNA.

Price & Availability↑

CloneID	OHu19197
Clone ID Related Accession (Same CDS sequence)	NM_024747.5 , NM_024747.6
Accession Version	NM_024747.5	Documents for ORF clone product in default 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
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-05-03
Organism	Homo sapiens(human)
Product	Hermansky-Pudlak syndrome 6 protein
Comment	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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC014993.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

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
CDS	109..2436
Translation	MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLLLLRPPGAVAPQLLVASRGPGAELERAWPAGQPSPLDAFFLPWPARPALVLVWESGLAEVWGAGVGPGWRPLQSTELCPGGGARVVAVAALRGRLVWCEERQARAEGPSGSPAAAFSHCVCVRTLEPSGEASTSLGRTHVLLHHCPAFGLLASCRQLFLVPTATTWPGVAHVLLIWSPGKGKVMVAAPRLGLSYSKSLNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPTPQGLLLLDFGGTVSLLQSHGGTRAVGTLQEAPVGPWGSAALGTFQGTLACVLGSTLELLDMGSGQLLERKVLSTDRVHLLEPPAPGMEDEEELETRGNLRLLSALGLFCVGWEAPQGVELPSAKDLVFEEACGYYQRRSLRGAQLTPEELRHSSTFRAPQALASILQGHLPPSALLTMLRTELRDYRGLEQLKAQLVAGDDEEAGWTELAEQEVARLLRTELIGDQLAQLNTVFQALPTAAWGATLRALQLQLDGNGKLRSQAPPDVWKKVLGGITAGKEPPNGILPPFELLCQCLCQLEPRWLPPFVELAQQQGGPGWGAGGPGLPLYRRALAVLGEEGTRPEALELELLLSSGRPKAVLQAVGQLVQKEQWDRALDAGLALGPSSPLLRSEIFKLLLAEFAQHRRLDAHLPLLCRLCPPELAPAELLLLLRTYLPDEVGPPTPFPEPGAEPPLTVGLLKALLEQTGAQGWLSGPVLSPYEDILWDPSTPPPTPPRDL

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	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_024747.5

ORF Insert Sequence:

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.

HPS6 ( NM_024747.6 ) cDNA ORF clone, Homo sapiens(human) -> NP_079023.2 Homo sapiens HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6), mRNA.

Price & Availability↑

CloneID	OHu19197
Clone ID Related Accession (Same CDS sequence)	NM_024747.5 , NM_024747.6
Accession Version	NM_024747.6 Latest version!	Documents for ORF clone product in default 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
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2020-01-04
Organism	Homo sapiens(human)
Product	Hermansky-Pudlak syndrome 6 protein
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL500527.19, BI761726.1 and BC011594.1. On Aug 31, 2019 this sequence version replaced NM_024747.5. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: AF536238.1, BC011594.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

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
CDS	127..2454
Translation	MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLLLLRPPGAVAPQLLVASRGPGAELERAWPAGQPSPLDAFFLPWPARPALVLVWESGLAEVWGAGVGPGWRPLQSTELCPGGGARVVAVAALRGRLVWCEERQARAEGPSGSPAAAFSHCVCVRTLEPSGEASTSLGRTHVLLHHCPAFGLLASCRQLFLVPTATTWPGVAHVLLIWSPGKGKVMVAAPRLGLSYSKSLNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPTPQGLLLLDFGGTVSLLQSHGGTRAVGTLQEAPVGPWGSAALGTFQGTLACVLGSTLELLDMGSGQLLERKVLSTDRVHLLEPPAPGMEDEEELETRGNLRLLSALGLFCVGWEAPQGVELPSAKDLVFEEACGYYQRRSLRGAQLTPEELRHSSTFRAPQALASILQGHLPPSALLTMLRTELRDYRGLEQLKAQLVAGDDEEAGWTELAEQEVARLLRTELIGDQLAQLNTVFQALPTAAWGATLRALQLQLDGNGKLRSQAPPDVWKKVLGGITAGKEPPNGILPPFELLCQCLCQLEPRWLPPFVELAQQQGGPGWGAGGPGLPLYRRALAVLGEEGTRPEALELELLLSSGRPKAVLQAVGQLVQKEQWDRALDAGLALGPSSPLLRSEIFKLLLAEFAQHRRLDAHLPLLCRLCPPELAPAELLLLLRTYLPDEVGPPTPFPEPGAEPPLTVGLLKALLEQTGAQGWLSGPVLSPYEDILWDPSTPPPTPPRDL

Target ORF information:

RefSeq Version	NM_024747.6
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	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_024747.6

ORF Insert Sequence:

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.

PubMed

A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
Pediatric blood & cancer64(5)(2017 May)
Andres O,Wiegering V,K?nig EM,Schneider AL,Semeniak D,Stritt S,Klopocki E,Schulze H

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.
The British journal of ophthalmology100(11)1521-1524(2016 Nov)
Hull S,Arno G,Holder GE,Plagnol V,Gomez K,Liesner R,Webster AR,Moore AT

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
Molecular genetics and metabolism119(3)284-287(2016 11)
O'Brien KJ,Lozier J,Cullinane AR,Osorio B,Nghiem K,Speransky V,Zein WM,Mullikin JC,Neff AT,Simon KL,Malicdan MC,Gahl WA,Young LR,Gochuico BR

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

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HPS6 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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