BLOC1S6 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	BLOC1S6
Entrez Gene ID	26258
Full Name	biogenesis of lysosomal organelles complex 1 subunit 6
Synonyms	BLOS6,HPS9,PA,PALLID,PLDN
General protein information	Preferred Names biogenesis of lysosomal organelles complex 1 subunit 6 Names biogenesis of lysosome-related organelles complex 1 subunit 6 BLOC-1 subunit 6 biogenesis of lysosomal organelles complex-1, subunit 5, pallidin biogenesis of lysosomal organelles complex-1, subunit 6, pallidin pallid protein homolog syntaxin 13 binding protein 1 syntaxin 13-interacting protein pallid
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 15 Map Location: 15q21.1
Summary	The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015].
Disorder MIM:	604310
Disorder Html:	?Hermansky-pudlak syndrome 9, 614171 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001311256.1	NP_001298185.1	biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 3
NM_001311255.1	NP_001298184.1	biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 1
NM_012388.3	NP_036520.1	biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2
NM_012388.4	NP_036520.1	biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2

Pathways from BioSystems

Homologies

Rattus norvegicus (Norway rat)	Bloc1s6	NP_001020885.1
Gallus gallus (chicken)	PLDN	NP_001007826.1
Pan troglodytes (chimpanzee)	BLOC1S6	XP_003314757.1
Canis lupus familiaris (dog)	LOC478288	XP_535463.3
	PLDN	XP_001111943.1
Bos taurus (cattle)	BLOC1S6	NP_001069793.1
Mus musculus (house mouse)	Bloc1s6	NP_062762.1
Homo sapiens (human)	BLOC1S6	NP_036520.1
Xenopus tropicalis (tropical clawed frog)	bloc1s6	NP_001016502.1
Danio rerio (zebrafish)	bloc1s6	NP_001074166.1

Gene Ontology
Bibliography

Related articles in PubMed

Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.
Mao GF, Goldfinger LE, Fan DC, Lambert MP, Jalagadugula G, Freishtat R, Rao AK
Journal of thrombosis and haemostasis : JTH15(4)792-801(2017 Apr)

An inter-species protein-protein interaction network across vast evolutionary distance.
Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M, Ta?an M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S, MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L, Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barab?si AL, Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP, Vidal M
Molecular systems biology12(4)865(2016 Apr)

Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrent? L, Mar JC
PLoS genetics11(8)e1005428(2015 Aug)

Highly expressed genes in human high grade gliomas: immunohistochemical analysis of data from the human protein atlas.
Meyer MA
Neurology international6(2)5348(2014 Apr)

MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.
Larimore J, Ryder PV, Kim KY, Ambrose LA, Chapleau C, Calfa G, Gross C, Bassell GJ, Pozzo-Miller L, Smith Y, Talbot K, Park IH, Faundez V
PloS one8(6)e65069(2013)

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

Mecp2 regulates the expression of components belonging to the dysbindin interactome
Title: MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.

no defects in the known components of pallidin-muted complex (BLOC-1)have been identified in 142 patients with HPS, suggesting that BLOC-1 function may be critical in humans.
Title: Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).

role in biogenesis of lysosome-related organelles
Title: Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.

The following BLOC1S6 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the BLOC1S6 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)
OHu18207	NM_012388.4 Latest version!	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu66906	NM_001311255.1 Latest version!	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu66907	NM_001311256.1 Latest version!	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 12, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
View Old Accession Versions >>
OHu18207	NM_012388.3	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
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)

BLOC1S6 ( NM_012388.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_036520.1 Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu18207
Clone ID Related Accession (Same CDS sequence)	NM_012388.3 , NM_012388.4
Accession Version	NM_012388.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 519bp) 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	2019-06-03
Organism	Homo sapiens(human)
Product	biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA468279.1, AF080470.1, AK128626.1, BC026289.1 and BP423071.1. This sequence is a reference standard in the RefSeqGene project. On Aug 8, 2015 this sequence version replaced NM_012388.2. Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1. 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 exon combination :: SRR1803616.130946.1, SRR1803617.71793.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGAGTGTCC CTGGGCCGTC GTCTCCGGAC GGGGCCCTGA CACGGCCACC CTACTGCCTG 
GAGGCCGGGG AGCCGACGCC TGGTTTAAGT GACACTTCTC CAGATGAAGG GTTAATAGAG 
GACTTGACTA TAGAAGACAA AGCAGTGGAG CAACTGGCAG AAGGATTGCT TTCTCATTAT 
TTGCCAGATC TGCAGAGATC AAAACAAGCC CTCCAGGAAC TCACACAGAA CCAAGTTGTA 
TTGTTAGACA CACTGGAACA AGAGATTTCA AAATTTAAAG AATGTCATTC TATGTTGGAT 
ATTAATGCTT TGTTTGCTGA GGCTAAACAC TATCATGCCA AGTTGGTGAA TATAAGAAAA 
GAGATGCTGA TGCTTCATGA AAAAACATCA AAGTTAAAAA AAAGAGCACT TAAACTGCAG 
CAGAAGAGGC AAAAAGAAGA GTTGGAAAGG GAGCAGCAAC GAGAGAAGGA GTTTGAAAGA 
GAAAAGCAGT TAACTGCCAG ACCAGCCAAA AGGATGTGA

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

RefSeq	NP_036520.1
CDS	322..840
Translation	MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRKEMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM

Target ORF information:

RefSeq Version	NM_012388.3
Organism	Homo sapiens(human)
Definition	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 2, mRNA.

Target ORF information:

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

NM_012388.3

ORF Insert Sequence:

ATGAGTGTCC CTGGGCCGTC GTCTCCGGAC GGGGCCCTGA CACGGCCACC CTACTGCCTG 
GAGGCCGGGG AGCCGACGCC TGGTTTAAGT GACACTTCTC CAGATGAAGG GTTAATAGAG 
GACTTGACTA TAGAAGACAA AGCAGTGGAG CAACTGGCAG AAGGATTGCT TTCTCATTAT 
TTGCCAGATC TGCAGAGATC AAAACAAGCC CTCCAGGAAC TCACACAGAA CCAAGTTGTA 
TTGTTAGACA CACTGGAACA AGAGATTTCA AAATTTAAAG AATGTCATTC TATGTTGGAT 
ATTAATGCTT TGTTTGCTGA GGCTAAACAC TATCATGCCA AGTTGGTGAA TATAAGAAAA 
GAGATGCTGA TGCTTCATGA AAAAACATCA AAGTTAAAAA AAAGAGCACT TAAACTGCAG 
CAGAAGAGGC AAAAAGAAGA GTTGGAAAGG GAGCAGCAAC GAGAGAAGGA GTTTGAAAGA 
GAAAAGCAGT TAACTGCCAG ACCAGCCAAA AGGATGTGA

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

BLOC1S6 ( NM_012388.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_036520.1 Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu18207
Clone ID Related Accession (Same CDS sequence)	NM_012388.3 , NM_012388.4
Accession Version	NM_012388.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 519bp) 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	2019-12-03
Organism	Homo sapiens(human)
Product	biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF080470.1, AK128626.1 and BC026289.1. On Dec 4, 2019 this sequence version replaced NM_012388.3. Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1. 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 exon combination :: SRR1803611.80928.1, SRR1803613.231633.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGAGTGTCC CTGGGCCGTC GTCTCCGGAC GGGGCCCTGA CACGGCCACC CTACTGCCTG 
GAGGCCGGGG AGCCGACGCC TGGTTTAAGT GACACTTCTC CAGATGAAGG GTTAATAGAG 
GACTTGACTA TAGAAGACAA AGCAGTGGAG CAACTGGCAG AAGGATTGCT TTCTCATTAT 
TTGCCAGATC TGCAGAGATC AAAACAAGCC CTCCAGGAAC TCACACAGAA CCAAGTTGTA 
TTGTTAGACA CACTGGAACA AGAGATTTCA AAATTTAAAG AATGTCATTC TATGTTGGAT 
ATTAATGCTT TGTTTGCTGA GGCTAAACAC TATCATGCCA AGTTGGTGAA TATAAGAAAA 
GAGATGCTGA TGCTTCATGA AAAAACATCA AAGTTAAAAA AAAGAGCACT TAAACTGCAG 
CAGAAGAGGC AAAAAGAAGA GTTGGAAAGG GAGCAGCAAC GAGAGAAGGA GTTTGAAAGA 
GAAAAGCAGT TAACTGCCAG ACCAGCCAAA AGGATGTGA

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

RefSeq	NP_036520.1
CDS	66..584
Translation	MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRKEMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM

Target ORF information:

RefSeq Version	NM_012388.4
Organism	Homo sapiens(human)
Definition	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 2, mRNA.

Target ORF information:

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

NM_012388.4

ORF Insert Sequence:

ATGAGTGTCC CTGGGCCGTC GTCTCCGGAC GGGGCCCTGA CACGGCCACC CTACTGCCTG 
GAGGCCGGGG AGCCGACGCC TGGTTTAAGT GACACTTCTC CAGATGAAGG GTTAATAGAG 
GACTTGACTA TAGAAGACAA AGCAGTGGAG CAACTGGCAG AAGGATTGCT TTCTCATTAT 
TTGCCAGATC TGCAGAGATC AAAACAAGCC CTCCAGGAAC TCACACAGAA CCAAGTTGTA 
TTGTTAGACA CACTGGAACA AGAGATTTCA AAATTTAAAG AATGTCATTC TATGTTGGAT 
ATTAATGCTT TGTTTGCTGA GGCTAAACAC TATCATGCCA AGTTGGTGAA TATAAGAAAA 
GAGATGCTGA TGCTTCATGA AAAAACATCA AAGTTAAAAA AAAGAGCACT TAAACTGCAG 
CAGAAGAGGC AAAAAGAAGA GTTGGAAAGG GAGCAGCAAC GAGAGAAGGA GTTTGAAAGA 
GAAAAGCAGT TAACTGCCAG ACCAGCCAAA AGGATGTGA

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

BLOC1S6 ( NM_001311255.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001298184.1 Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu66906
Clone ID Related Accession (Same CDS sequence)	NM_001311255.1
Accession Version	NM_001311255.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 534bp) 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	2019-08-05
Organism	Homo sapiens(human)
Product	biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA230439.1, AL596952.1, AK128626.1, BC026289.1 and BP423071.1. 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 exon combination :: SRR1803612.14950.1, SRR1803615.48563.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGGCGGAA CTGAAGTCCC GAGGGGAAGC TTTGTATTGG GGGTGCAATT GAAGGCGGTT 
GATGGTGAAG CCATTCTGAG TTTATGTGTT GACTCCGGTT TAAGTGACAC TTCTCCAGAT 
GAAGGGTTAA TAGAGGACTT GACTATAGAA GACAAAGCAG TGGAGCAACT GGCAGAAGGA 
TTGCTTTCTC ATTATTTGCC AGATCTGCAG AGATCAAAAC AAGCCCTCCA GGAACTCACA 
CAGAACCAAG TTGTATTGTT AGACACACTG GAACAAGAGA TTTCAAAATT TAAAGAATGT 
CATTCTATGT TGGATATTAA TGCTTTGTTT GCTGAGGCTA AACACTATCA TGCCAAGTTG 
GTGAATATAA GAAAAGAGAT GCTGATGCTT CATGAAAAAA CATCAAAGTT AAAAAAAAGA 
GCACTTAAAC TGCAGCAGAA GAGGCAAAAA GAAGAGTTGG AAAGGGAGCA GCAACGAGAG 
AAGGAGTTTG AAAGAGAAAA GCAGTTAACT GCCAGACCAG CCAAAAGGAT GTGA

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

RefSeq	NP_001298184.1
CDS	141..674
Translation	MGGTEVPRGSFVLGVQLKAVDGEAILSLCVDSGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRKEMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM

Target ORF information:

RefSeq Version	NM_001311255.1
Organism	Homo sapiens(human)
Definition	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 1, mRNA.

Target ORF information:

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

NM_001311255.1

ORF Insert Sequence:

ATGGGCGGAA CTGAAGTCCC GAGGGGAAGC TTTGTATTGG GGGTGCAATT GAAGGCGGTT 
GATGGTGAAG CCATTCTGAG TTTATGTGTT GACTCCGGTT TAAGTGACAC TTCTCCAGAT 
GAAGGGTTAA TAGAGGACTT GACTATAGAA GACAAAGCAG TGGAGCAACT GGCAGAAGGA 
TTGCTTTCTC ATTATTTGCC AGATCTGCAG AGATCAAAAC AAGCCCTCCA GGAACTCACA 
CAGAACCAAG TTGTATTGTT AGACACACTG GAACAAGAGA TTTCAAAATT TAAAGAATGT 
CATTCTATGT TGGATATTAA TGCTTTGTTT GCTGAGGCTA AACACTATCA TGCCAAGTTG 
GTGAATATAA GAAAAGAGAT GCTGATGCTT CATGAAAAAA CATCAAAGTT AAAAAAAAGA 
GCACTTAAAC TGCAGCAGAA GAGGCAAAAA GAAGAGTTGG AAAGGGAGCA GCAACGAGAG 
AAGGAGTTTG AAAGAGAAAA GCAGTTAACT GCCAGACCAG CCAAAAGGAT GTGA

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

BLOC1S6 ( NM_001311256.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001298185.1 Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 12, mRNA.

Price & Availability↑

CloneID	OHu66907
Clone ID Related Accession (Same CDS sequence)	NM_001311256.1
Accession Version	NM_001311256.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 276bp) 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	2019-08-04
Organism	Homo sapiens(human)
Product	biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 3
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA230439.1, DA226593.1, DA523523.1, AK128626.1, BC026289.1 and BP423071.1. Transcript Variant: This variant (12) lacks an alternate exon in the central coding region, which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1. 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 exon combination :: SRR1660807.106466.1, SRR1803615.114935.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGGCGGAA CTGAAGTCCC GAGGGGAAGC TTTGTATTGG GGGTGCAATT GAAGGCGGTT 
GATGGTGAAG CCATTCTGAG TTTATGTGTT GACTCCGGTT TAAGTGACAC TTCTCCAGAT 
GAAGGGTTAA TAGAGGACTT GACTATAGAA GACAAAGCAG TGGAGCAACT GGCAGAAGGA 
TTGCTTTCTC ATTATTTGCC AGATCTGCAG AGATCAAAAC AAGCCCTCCA GGAACTCACT 
TTGCTGAGGC TAAACACTAT CATGCCAAGT TGGTGA

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

RefSeq	NP_001298185.1
CDS	141..416
Translation	MGGTEVPRGSFVLGVQLKAVDGEAILSLCVDSGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTLLRLNTIMPSW

Target ORF information:

RefSeq Version	NM_001311256.1
Organism	Homo sapiens(human)
Definition	Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 12, mRNA.

Target ORF information:

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

NM_001311256.1

ORF Insert Sequence:

ATGGGCGGAA CTGAAGTCCC GAGGGGAAGC TTTGTATTGG GGGTGCAATT GAAGGCGGTT 
GATGGTGAAG CCATTCTGAG TTTATGTGTT GACTCCGGTT TAAGTGACAC TTCTCCAGAT 
GAAGGGTTAA TAGAGGACTT GACTATAGAA GACAAAGCAG TGGAGCAACT GGCAGAAGGA 
TTGCTTTCTC ATTATTTGCC AGATCTGCAG AGATCAAAAC AAGCCCTCCA GGAACTCACT 
TTGCTGAGGC TAAACACTAT CATGCCAAGT TGGTGA

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

PubMed

Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.
Journal of thrombosis and haemostasis : JTH15(4)792-801(2017 Apr)
Mao GF,Goldfinger LE,Fan DC,Lambert MP,Jalagadugula G,Freishtat R,Rao AK

An inter-species protein-protein interaction network across vast evolutionary distance.
Molecular systems biology12(4)865(2016 Apr)
Zhong Q,Pevzner SJ,Hao T,Wang Y,Mosca R,Menche J,Taipale M,Ta?an M,Fan C,Yang X,Haley P,Murray RR,Mer F,Gebreab F,Tam S,MacWilliams A,Dricot A,Reichert P,Santhanam B,Ghamsari L,Calderwood MA,Rolland T,Charloteaux B,Lindquist S,Barab?si AL,Hill DE,Aloy P,Cusick ME,Xia Y,Roth FP,Vidal M

Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
PLoS genetics11(8)e1005428(2015 Aug)
Hasegawa Y,Taylor D,Ovchinnikov DA,Wolvetang EJ,de Torrent? L,Mar JC

Highly expressed genes in human high grade gliomas: immunohistochemical analysis of data from the human protein atlas.
Neurology international6(2)5348(2014 Apr)
Meyer MA

MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.
PloS one8(6)e65069(2013)
Larimore J,Ryder PV,Kim KY,Ambrose LA,Chapleau C,Calfa G,Gross C,Bassell GJ,Pozzo-Miller L,Smith Y,Talbot K,Park IH,Faundez V