OSTM1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	OSTM1
Entrez Gene ID	28962
Full Name	osteopetrosis associated transmembrane protein 1
Synonyms	GIPN,GL,HSPC019,OPTB5
General protein information	Preferred Names osteopetrosis associated transmembrane protein 1 Names osteopetrosis-associated transmembrane protein 1 CLCN7 accessory beta subunit GAIP-interacting protein N terminus chloride channel 7 beta subunit grey-lethal osteopetrosis
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 6 Map Location: 6q21
Summary	This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008].
Disorder MIM:	607649
Disorder Html:	Osteopetrosis, autosomal recessive 5, 259720 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_014028.3	NP_054747.2	osteopetrosis-associated transmembrane protein 1
NM_014028.4	NP_054747.2	osteopetrosis-associated transmembrane protein 1

Pathways from BioSystems

Homologies

Xenopus tropicalis (tropical clawed frog)	ostm1	NP_001072582.1
Pan troglodytes (chimpanzee)	OSTM1	XP_001148469.1
	OSTM1	XP_001094902.1
Canis lupus familiaris (dog)	OSTM1	XP_854990.3
Gallus gallus (chicken)	OSTM1	NP_001026248.1
Homo sapiens (human)	OSTM1	NP_054747.2
Mus musculus (house mouse)	Ostm1	NP_766004.1
Rattus norvegicus (Norway rat)	Ostm1	NP_001025096.1
Bos taurus (cattle)	OSTM1	NP_001069244.1
Danio rerio (zebrafish)	ostm1	XP_002665788.2

Gene Ontology
Bibliography

Related articles in PubMed

Ostm1 bifunctional roles in osteoclast maturation: insights from a mouse model mimicking a human OSTM1 mutation.
Pata M, Vacher J
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research(2018 Jan)

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F
European journal of human genetics : EJHG25(9)1092-1095(2017 Sep)

Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
Pandruvada SN, Beauregard J, Benjannet S, Pata M, Lazure C, Seidah NG, Vacher J
Molecular and cellular biology36(3)507-21(2015 Nov)

Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis.
Shin B, Yu J, Park ES, Choi S, Yu J, Hwang JM, Yun H, Chung YH, Hong KS, Choi JS, Takami M, Rho J
The Journal of biological chemistry289(52)35868-81(2014 Dec)

Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
H?raud C, Griffiths A, Pandruvada SN, Kilimann MW, Pata M, Vacher J
The Journal of biological chemistry289(20)13912-25(2014 May)

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

Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation.
Title: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

KIF5B is essential for Ostm1 intracellular dispersion.
Title: Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.

Ostm1 has a primary and autonomous role in neuronal homeostasis
Title: Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.

Common gating underlies the slow voltage activation of ClC-7.
Title: Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.

we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosi
Title: Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

The following OSTM1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the OSTM1 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)
OHu28292	NM_014028.4 Latest version!	Homo sapiens osteoclastogenesis associated transmembrane protein 1 (OSTM1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$159.50-$223.30 $319.00
View Old Accession Versions >>
OHu28292	NM_014028.3	Homo sapiens osteopetrosis associated transmembrane protein 1 (OSTM1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$265.30 $379.00
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)

OSTM1 ( NM_014028.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_054747.2 Homo sapiens osteoclastogenesis associated transmembrane protein 1 (OSTM1), mRNA.

Price & Availability↑

CloneID	OHu28292
Clone ID Related Accession (Same CDS sequence)	NM_014028.3 , NM_014028.4
Accession Version	NM_014028.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1005bp) 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	2019-10-27
Organism	Homo sapiens(human)
Product	osteopetrosis-associated transmembrane protein 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from Z98200.9, BI668275.1, AF533891.1, AJ420489.1, AA428166.1, BQ716123.1, BE218267.1 and AV715475.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_014028.3. 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 :: SRR1803613.213465.1, SRR1803613.136052.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000193322.8/ ENSP00000193322.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGAGCCGG GCCCGACAGC CGCGCAGCGG AGGTGTTCGT TGCCGCCGTG GCTGCCGCTG 
GGGCTGCTGC TGTGGTCGGG GCTGGCCCTG GGCGCGCTCC CCTTCGGCAG CAGTCCGCAC 
AGGGTCTTCC ACGACCTCCT GTCGGAGCAG CAGTTGCTGG AGGTGGAGGA CTTGTCCCTG 
TCCCTCCTGC AGGGTGGAGG GCTGGGGCCT CTGTCGCTGC CCCCGGACCT GCCGGATCTG 
GATCCTGAGT GCCGGGAGCT CCTGCTGGAC TTCGCCAACA GCAGCGCAGA GCTGACAGGG 
TGTCTGGTGC GCAGCGCCCG GCCCGTGCGC CTCTGTCAGA CCTGCTACCC CCTCTTCCAA 
CAGGTCGTCA GCAAGATGGA CAACATCAGC CGAGCCGCGG GGAATACTTC AGAGAGTCAG 
AGTTGTGCCA GAAGTCTCTT AATGGCAGAT AGAATGCAAA TAGTTGTGAT TCTCTCAGAA 
TTTTTTAATA CCACATGGCA GGAGGCAAAT TGTGCAAATT GTTTAACAAA CAACAGTGAA 
GAATTATCAA ACAGCACAGT ATATTTCCTT AATCTATTTA ATCACACCCT GACCTGCTTT 
GAACATAACC TTCAGGGGAA TGCACATAGT CTTTTACAGA CAAAAAATTA TTCAGAAGTA 
TGCAAAAACT GCCGTGAAGC ATACAAAACT CTGAGTAGTC TGTACAGTGA AATGCAAAAA 
ATGAATGAAC TTGAGAATAA GGCTGAACCT GGAACACATT TATGCATTGA TGTGGAAGAT 
GCAATGAACA TCACTCGAAA ACTATGGAGT CGAACTTTCA ACTGTTCAGT CCCTTGCAGT 
GACACAGTGC CTGTAATTGC TGTTTCTGTG TTCATTCTCT TTCTACCTGT TGTCTTCTAC 
CTTAGTAGCT TTCTTCACTC AGAGCAAAAG AAACGCAAAC TCATTCTGCC CAAACGTCTC 
AAGTCCAGTA CCAGTTTTGC AAATATTCAG GAAAATTCAA ACTGA

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

RefSeq	NP_054747.2
CDS	91..1095
Translation	MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSLSLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDTVPVIAVSVFILFLPVVFYLSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN

Target ORF information:

RefSeq Version	NM_014028.4
Organism	Homo sapiens(human)
Definition	Homo sapiens osteoclastogenesis associated transmembrane protein 1 (OSTM1), mRNA.

Target ORF information:

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

NM_014028.4

ORF Insert Sequence:

ATGGAGCCGG GCCCGACAGC CGCGCAGCGG AGGTGTTCGT TGCCGCCGTG GCTGCCGCTG 
GGGCTGCTGC TGTGGTCGGG GCTGGCCCTG GGCGCGCTCC CCTTCGGCAG CAGTCCGCAC 
AGGGTCTTCC ACGACCTCCT GTCGGAGCAG CAGTTGCTGG AGGTGGAGGA CTTGTCCCTG 
TCCCTCCTGC AGGGTGGAGG GCTGGGGCCT CTGTCGCTGC CCCCGGACCT GCCGGATCTG 
GATCCTGAGT GCCGGGAGCT CCTGCTGGAC TTCGCCAACA GCAGCGCAGA GCTGACAGGG 
TGTCTGGTGC GCAGCGCCCG GCCCGTGCGC CTCTGTCAGA CCTGCTACCC CCTCTTCCAA 
CAGGTCGTCA GCAAGATGGA CAACATCAGC CGAGCCGCGG GGAATACTTC AGAGAGTCAG 
AGTTGTGCCA GAAGTCTCTT AATGGCAGAT AGAATGCAAA TAGTTGTGAT TCTCTCAGAA 
TTTTTTAATA CCACATGGCA GGAGGCAAAT TGTGCAAATT GTTTAACAAA CAACAGTGAA 
GAATTATCAA ACAGCACAGT ATATTTCCTT AATCTATTTA ATCACACCCT GACCTGCTTT 
GAACATAACC TTCAGGGGAA TGCACATAGT CTTTTACAGA CAAAAAATTA TTCAGAAGTA 
TGCAAAAACT GCCGTGAAGC ATACAAAACT CTGAGTAGTC TGTACAGTGA AATGCAAAAA 
ATGAATGAAC TTGAGAATAA GGCTGAACCT GGAACACATT TATGCATTGA TGTGGAAGAT 
GCAATGAACA TCACTCGAAA ACTATGGAGT CGAACTTTCA ACTGTTCAGT CCCTTGCAGT 
GACACAGTGC CTGTAATTGC TGTTTCTGTG TTCATTCTCT TTCTACCTGT TGTCTTCTAC 
CTTAGTAGCT TTCTTCACTC AGAGCAAAAG AAACGCAAAC TCATTCTGCC CAAACGTCTC 
AAGTCCAGTA CCAGTTTTGC AAATATTCAG GAAAATTCAA ACTGA

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

OSTM1 ( NM_014028.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_054747.2 Homo sapiens osteopetrosis associated transmembrane protein 1 (OSTM1), mRNA.

Price & Availability↑

CloneID	OHu28292
Clone ID Related Accession (Same CDS sequence)	NM_014028.3 , NM_014028.4
Accession Version	NM_014028.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1005bp) 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	2017-12-10
Organism	Homo sapiens(human)
Product	osteopetrosis-associated transmembrane protein 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI668275.1, AF533891.1, AJ420489.1, AA428166.1, Z98200.9, BQ716123.1, BE218267.1 and AV715475.1. This sequence is a reference standard in the RefSeqGene project. On Dec 17, 2004 this sequence version replaced NM_014028.2. 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 :: SRR1660807.53978.1, SRR1803616.249337.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGAGCCGG GCCCGACAGC CGCGCAGCGG AGGTGTTCGT TGCCGCCGTG GCTGCCGCTG 
GGGCTGCTGC TGTGGTCGGG GCTGGCCCTG GGCGCGCTCC CCTTCGGCAG CAGTCCGCAC 
AGGGTCTTCC ACGACCTCCT GTCGGAGCAG CAGTTGCTGG AGGTGGAGGA CTTGTCCCTG 
TCCCTCCTGC AGGGTGGAGG GCTGGGGCCT CTGTCGCTGC CCCCGGACCT GCCGGATCTG 
GATCCTGAGT GCCGGGAGCT CCTGCTGGAC TTCGCCAACA GCAGCGCAGA GCTGACAGGG 
TGTCTGGTGC GCAGCGCCCG GCCCGTGCGC CTCTGTCAGA CCTGCTACCC CCTCTTCCAA 
CAGGTCGTCA GCAAGATGGA CAACATCAGC CGAGCCGCGG GGAATACTTC AGAGAGTCAG 
AGTTGTGCCA GAAGTCTCTT AATGGCAGAT AGAATGCAAA TAGTTGTGAT TCTCTCAGAA 
TTTTTTAATA CCACATGGCA GGAGGCAAAT TGTGCAAATT GTTTAACAAA CAACAGTGAA 
GAATTATCAA ACAGCACAGT ATATTTCCTT AATCTATTTA ATCACACCCT GACCTGCTTT 
GAACATAACC TTCAGGGGAA TGCACATAGT CTTTTACAGA CAAAAAATTA TTCAGAAGTA 
TGCAAAAACT GCCGTGAAGC ATACAAAACT CTGAGTAGTC TGTACAGTGA AATGCAAAAA 
ATGAATGAAC TTGAGAATAA GGCTGAACCT GGAACACATT TATGCATTGA TGTGGAAGAT 
GCAATGAACA TCACTCGAAA ACTATGGAGT CGAACTTTCA ACTGTTCAGT CCCTTGCAGT 
GACACAGTGC CTGTAATTGC TGTTTCTGTG TTCATTCTCT TTCTACCTGT TGTCTTCTAC 
CTTAGTAGCT TTCTTCACTC AGAGCAAAAG AAACGCAAAC TCATTCTGCC CAAACGTCTC 
AAGTCCAGTA CCAGTTTTGC AAATATTCAG GAAAATTCAA ACTGA

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

RefSeq	NP_054747.2
CDS	87..1091
Translation	MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSLSLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDTVPVIAVSVFILFLPVVFYLSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN

Target ORF information:

RefSeq Version	NM_014028.3
Organism	Homo sapiens(human)
Definition	Homo sapiens osteopetrosis associated transmembrane protein 1 (OSTM1), mRNA.

Target ORF information:

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

NM_014028.3

ORF Insert Sequence:

ATGGAGCCGG GCCCGACAGC CGCGCAGCGG AGGTGTTCGT TGCCGCCGTG GCTGCCGCTG 
GGGCTGCTGC TGTGGTCGGG GCTGGCCCTG GGCGCGCTCC CCTTCGGCAG CAGTCCGCAC 
AGGGTCTTCC ACGACCTCCT GTCGGAGCAG CAGTTGCTGG AGGTGGAGGA CTTGTCCCTG 
TCCCTCCTGC AGGGTGGAGG GCTGGGGCCT CTGTCGCTGC CCCCGGACCT GCCGGATCTG 
GATCCTGAGT GCCGGGAGCT CCTGCTGGAC TTCGCCAACA GCAGCGCAGA GCTGACAGGG 
TGTCTGGTGC GCAGCGCCCG GCCCGTGCGC CTCTGTCAGA CCTGCTACCC CCTCTTCCAA 
CAGGTCGTCA GCAAGATGGA CAACATCAGC CGAGCCGCGG GGAATACTTC AGAGAGTCAG 
AGTTGTGCCA GAAGTCTCTT AATGGCAGAT AGAATGCAAA TAGTTGTGAT TCTCTCAGAA 
TTTTTTAATA CCACATGGCA GGAGGCAAAT TGTGCAAATT GTTTAACAAA CAACAGTGAA 
GAATTATCAA ACAGCACAGT ATATTTCCTT AATCTATTTA ATCACACCCT GACCTGCTTT 
GAACATAACC TTCAGGGGAA TGCACATAGT CTTTTACAGA CAAAAAATTA TTCAGAAGTA 
TGCAAAAACT GCCGTGAAGC ATACAAAACT CTGAGTAGTC TGTACAGTGA AATGCAAAAA 
ATGAATGAAC TTGAGAATAA GGCTGAACCT GGAACACATT TATGCATTGA TGTGGAAGAT 
GCAATGAACA TCACTCGAAA ACTATGGAGT CGAACTTTCA ACTGTTCAGT CCCTTGCAGT 
GACACAGTGC CTGTAATTGC TGTTTCTGTG TTCATTCTCT TTCTACCTGT TGTCTTCTAC 
CTTAGTAGCT TTCTTCACTC AGAGCAAAAG AAACGCAAAC TCATTCTGCC CAAACGTCTC 
AAGTCCAGTA CCAGTTTTGC AAATATTCAG GAAAATTCAA ACTGA

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

PubMed

Ostm1 bifunctional roles in osteoclast maturation: insights from a mouse model mimicking a human OSTM1 mutation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research(2018 Jan)
Pata M,Vacher J

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
European journal of human genetics : EJHG25(9)1092-1095(2017 Sep)
Herebian D,Alhaddad B,Seibt A,Schwarzmayr T,Danhauser K,Klee D,Harmsen S,Meitinger T,Strom TM,Schulz A,Mayatepek E,Haack TB,Distelmaier F

Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
Molecular and cellular biology36(3)507-21(2015 Nov)
Pandruvada SN,Beauregard J,Benjannet S,Pata M,Lazure C,Seidah NG,Vacher J

Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis.
The Journal of biological chemistry289(52)35868-81(2014 Dec)
Shin B,Yu J,Park ES,Choi S,Yu J,Hwang JM,Yun H,Chung YH,Hong KS,Choi JS,Takami M,Rho J

Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
The Journal of biological chemistry289(20)13912-25(2014 May)
H?raud C,Griffiths A,Pandruvada SN,Kilimann MW,Pata M,Vacher J

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OSTM1 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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