PCBD1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	PCBD1
Entrez Gene ID	5092
Full Name	pterin-4 alpha-carbinolamine dehydratase 1
Synonyms	DCOH,PCBD,PCD,PHS
General protein information	Preferred Names pterin-4 alpha-carbinolamine dehydratase 1 Names pterin-4-alpha-carbinolamine dehydratase 4-alpha-hydroxy-tetrahydropterin dehydratase 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) dimerizing cofactor for HNF1 phenylalanine hydroxylase-stimulating protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 10 Map Location: 10q22.1
Summary	This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].
Disorder MIM:	126090
Disorder Html:	Hyperphenylalaninemia, BH4-deficient, D, 264070 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000281.3	NP_000272.1	pterin-4-alpha-carbinolamine dehydratase isoform 1
NM_001323004.1	NP_001309933.1	pterin-4-alpha-carbinolamine dehydratase isoform 2
NM_001323004.2	NP_001309933.1	pterin-4-alpha-carbinolamine dehydratase isoform 2
NM_001289797.2	NP_001276726.1	pterin-4-alpha-carbinolamine dehydratase isoform 3
NM_001289797.1	NP_001276726.1	pterin-4-alpha-carbinolamine dehydratase isoform 3
NM_000281.4	NP_000272.1	pterin-4-alpha-carbinolamine dehydratase isoform 1

Pathways from BioSystems

Homologies

Drosophila melanogaster (fruit fly)	Pcd	NP_477360.2
Pan troglodytes (chimpanzee)	PCBD1	XP_001171466.1
Xenopus tropicalis (tropical clawed frog)	pcbd1	NP_001011016.1
Gallus gallus (chicken)	PCBD1	NP_990236.1
Homo sapiens (human)	PCBD1	NP_000272.1
	PCBD1	XP_001107537.1
Bos taurus (cattle)	PCBD1	NP_001193403.1
Danio rerio (zebrafish)	pcbd1	NP_957108.1
Canis lupus familiaris (dog)	PCBD1	XP_005619043.1
Mus musculus (house mouse)	Pcbd1	NP_079549.1
Rattus norvegicus (Norway rat)	Pcbd1	NP_001007602.1

Gene Ontology
Bibliography

Related articles in PubMed

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)

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM, Xia Y, Vidal M
Cell164(4)805-17(2016 Feb)

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite D, Kofent J, Gong M, R?schendorf F, Jia S, Arn P, Bentler K, Ellaway C, K?hnen P, Hoffmann GF, Blau N, Spagnoli FM, H?bner N, Raile K
Diabetes63(10)3557-64(2014 Oct)

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
Ferr? S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ
Journal of the American Society of Nephrology : JASN25(3)574-86(2014 Mar)

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, Butte NF
PloS one7(12)e51954(2012)

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

We provide the first genetic evidence that PCBD1 mutations can cause early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes.
Title: Recessive mutations in PCBD1 cause a new type of early-onset diabetes.

Coactivator of the HNFB1 (HNF1 homeobox B)-mediated transcription is necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2) transcription in the distal convoluted tubule
Title: Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.

Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Examination of tetrahydrobiopterin pathway genes in autism.

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

The following PCBD1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PCBD1 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)
OHu23550	NM_000281.4 Latest version!	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu24111	NM_001289797.2 Latest version!	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 3, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu44359	NM_001323004.2 Latest version!	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
View Old Accession Versions >>
OHu44359	NM_001323004.1	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
OHu24111	NM_001289797.1	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 3, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu23550	NM_000281.3	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 1, 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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** 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.

Reference Sequences (Refseq)

PCBD1 ( NM_000281.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000272.1 Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu23550
Clone ID Related Accession (Same CDS sequence)	NM_000281.3 , NM_000281.4
Accession Version	NM_000281.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 315bp) 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	2017-12-27
Organism	Homo sapiens(human)
Product	pterin-4-alpha-carbinolamine dehydratase isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BQ897536.1, BQ685076.1, BC006324.2 and AA736613.1. This sequence is a reference standard in the RefSeqGene project. On Jan 31, 2014 this sequence version replaced NM_000281.2. Transcript Variant: This variant (1) encodes 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 :: BQ883583.1, BU158051.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## multifunctional gene product(s) :: PMID: 9092652 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCTGGCA AAGCACACAG GCTGAGCGCT GAGGAGAGGG ACCAGCTGCT GCCAAACCTG 
AGGGCTGTGG GGTGGAATGA GCTGGAAGGC CGTGATGCCA TCTTCAAGCA GTTTCATTTC 
AAAGACTTCA ACAGGGCCTT TGGGTTCATG ACAAGAGTGG CCCTGCAGGC TGAGAAACTG 
GACCACCATC CTGAATGGTT TAACGTGTAC AACAAGGTCC ACATCACGCT GAGCACCCAT 
GAGTGTGCCG GCCTTTCAGA ACGGGACATA AACCTGGCCA GCTTCATCGA ACAAGTAGCA 
GTGTCCATGA CATAG

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

RefSeq	NP_000272.1
CDS	254..568
Translation	MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT

Target ORF information:

RefSeq Version	NM_000281.3
Organism	Homo sapiens(human)
Definition	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 1, mRNA.

Target ORF information:

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

NM_000281.3

ORF Insert Sequence:

ATGGCTGGCA AAGCACACAG GCTGAGCGCT GAGGAGAGGG ACCAGCTGCT GCCAAACCTG 
AGGGCTGTGG GGTGGAATGA GCTGGAAGGC CGTGATGCCA TCTTCAAGCA GTTTCATTTC 
AAAGACTTCA ACAGGGCCTT TGGGTTCATG ACAAGAGTGG CCCTGCAGGC TGAGAAACTG 
GACCACCATC CTGAATGGTT TAACGTGTAC AACAAGGTCC ACATCACGCT GAGCACCCAT 
GAGTGTGCCG GCCTTTCAGA ACGGGACATA AACCTGGCCA GCTTCATCGA ACAAGTAGCA 
GTGTCCATGA CATAG

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

PCBD1 ( NM_000281.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_000272.1 Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu23550
Clone ID Related Accession (Same CDS sequence)	NM_000281.3 , NM_000281.4
Accession Version	NM_000281.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 315bp) 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	2019-08-21
Organism	Homo sapiens(human)
Product	pterin-4-alpha-carbinolamine dehydratase isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BQ685076.1 and BC006324.2. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_000281.3. Transcript Variant: This variant (1) encodes 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 :: AF082858.1, SRR5189661.168037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000299299.4/ ENSP00000299299.3 multifunctional gene product(s) :: PMID: 9092652 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCTGGCA AAGCACACAG GCTGAGCGCT GAGGAGAGGG ACCAGCTGCT GCCAAACCTG 
AGGGCTGTGG GGTGGAATGA GCTGGAAGGC CGTGATGCCA TCTTCAAGCA GTTTCATTTC 
AAAGACTTCA ACAGGGCCTT TGGGTTCATG ACAAGAGTGG CCCTGCAGGC TGAGAAACTG 
GACCACCATC CTGAATGGTT TAACGTGTAC AACAAGGTCC ACATCACGCT GAGCACCCAT 
GAGTGTGCCG GCCTTTCAGA ACGGGACATA AACCTGGCCA GCTTCATCGA ACAAGTAGCA 
GTGTCCATGA CATAG

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

RefSeq	NP_000272.1
CDS	33..347
Translation	MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT

Target ORF information:

RefSeq Version	NM_000281.4
Organism	Homo sapiens(human)
Definition	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 1, mRNA.

Target ORF information:

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

NM_000281.4

ORF Insert Sequence:

ATGGCTGGCA AAGCACACAG GCTGAGCGCT GAGGAGAGGG ACCAGCTGCT GCCAAACCTG 
AGGGCTGTGG GGTGGAATGA GCTGGAAGGC CGTGATGCCA TCTTCAAGCA GTTTCATTTC 
AAAGACTTCA ACAGGGCCTT TGGGTTCATG ACAAGAGTGG CCCTGCAGGC TGAGAAACTG 
GACCACCATC CTGAATGGTT TAACGTGTAC AACAAGGTCC ACATCACGCT GAGCACCCAT 
GAGTGTGCCG GCCTTTCAGA ACGGGACATA AACCTGGCCA GCTTCATCGA ACAAGTAGCA 
GTGTCCATGA CATAG

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

PCBD1 ( NM_001289797.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001276726.1 Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 3, mRNA.

Price & Availability↑

CloneID	OHu24111
Clone ID Related Accession (Same CDS sequence)	NM_001289797.2 , NM_001289797.1
Accession Version	NM_001289797.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 168bp) 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	2019-09-27
Organism	Homo sapiens(human)
Product	pterin-4-alpha-carbinolamine dehydratase isoform 3
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI548743.1 and BC006324.2. On May 31, 2019 this sequence version replaced NM_001289797.1. Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter 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 :: SRR7410570.463677.1, SRR7410570.463670.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## multifunctional gene product(s) :: PMID: 9092652 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

1
61
121

ATGACAAGAG TGGCCCTGCA GGCTGAGAAA CTGGACCACC ATCCTGAATG GTTTAACGTG 
TACAACAAGG TCCACATCAC GCTGAGCACC CATGAGTGTG CCGGCCTTTC AGAACGGGAC 
ATAAACCTGG CCAGCTTCAT CGAACAAGTA GCAGTGTCCA TGACATAG

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

RefSeq	NP_001276726.1
CDS	174..341
Translation	MTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT

Target ORF information:

RefSeq Version	NM_001289797.2
Organism	Homo sapiens(human)
Definition	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 3, mRNA.

Target ORF information:

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

NM_001289797.2

ORF Insert Sequence:

1
61
121

ATGACAAGAG TGGCCCTGCA GGCTGAGAAA CTGGACCACC ATCCTGAATG GTTTAACGTG 
TACAACAAGG TCCACATCAC GCTGAGCACC CATGAGTGTG CCGGCCTTTC AGAACGGGAC 
ATAAACCTGG CCAGCTTCAT CGAACAAGTA GCAGTGTCCA TGACATAG

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

PCBD1 ( NM_001289797.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001276726.1 Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 3, mRNA.

Price & Availability↑

CloneID	OHu24111
Clone ID Related Accession (Same CDS sequence)	NM_001289797.2 , NM_001289797.1
Accession Version	NM_001289797.1	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 168bp) 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	2018-12-15
Organism	Homo sapiens(human)
Product	pterin-4-alpha-carbinolamine dehydratase isoform 3
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI548743.1, AC073176.8, BC006324.2 and AA736613.1. Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter 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 :: SRR1803614.393961.1, BI548743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## multifunctional gene product(s) :: PMID: 9092652 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

1
61
121

ATGACAAGAG TGGCCCTGCA GGCTGAGAAA CTGGACCACC ATCCTGAATG GTTTAACGTG 
TACAACAAGG TCCACATCAC GCTGAGCACC CATGAGTGTG CCGGCCTTTC AGAACGGGAC 
ATAAACCTGG CCAGCTTCAT CGAACAAGTA GCAGTGTCCA TGACATAG

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

RefSeq	NP_001276726.1
CDS	547..714
Translation	MTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT

Target ORF information:

RefSeq Version	NM_001289797.1
Organism	Homo sapiens(human)
Definition	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 3, mRNA.

Target ORF information:

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

NM_001289797.1

ORF Insert Sequence:

1
61
121

ATGACAAGAG TGGCCCTGCA GGCTGAGAAA CTGGACCACC ATCCTGAATG GTTTAACGTG 
TACAACAAGG TCCACATCAC GCTGAGCACC CATGAGTGTG CCGGCCTTTC AGAACGGGAC 
ATAAACCTGG CCAGCTTCAT CGAACAAGTA GCAGTGTCCA TGACATAG

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

PCBD1 ( NM_001323004.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001309933.1 Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu44359
Clone ID Related Accession (Same CDS sequence)	NM_001323004.1 , NM_001323004.2
Accession Version	NM_001323004.1	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 315bp) 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	2019-02-25
Organism	Homo sapiens(human)
Product	pterin-4-alpha-carbinolamine dehydratase isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC073176.8 and HY292808.1. On Apr 15, 2016 this sequence version replaced XM_005269877.1. Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has an alternate C-terminus compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: SRR1163657.175472.1, HY292808.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## multifunctional gene product(s) :: PMID: 9092652 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCTGGCA AAGCACACAG GCTGAGCGCT GAGGAGAGGG ACCAGCTGCT GCCAAACCTG 
AGGGCTGTGG GGTGGAATGA GCTGGAAGGC CGTGATGCCA TCTTCAAGCA GTTTCATTTC 
AAAGACTTCA ACAGGGCCTT TGGGTTCATG ACAAGAGTGG CCCTGCAGGC TGAGAAACTG 
GACCACCATC CTGAATGGTT TAACGTGTAC AACAAGGTCT CAAGGCTACA AGCCTCCGGT 
GTGCAACAAT ACCATCTGCT TTCCTGGTTC TCCAGCTTGC CAACTACAGA TCTTGGGACT 
TGTCAGCCTC CATAA

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

RefSeq	NP_001309933.1
CDS	254..568
Translation	MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVSRLQASGVQQYHLLSWFSSLPTTDLGTCQPP

Target ORF information:

RefSeq Version	NM_001323004.1
Organism	Homo sapiens(human)
Definition	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 2, mRNA.

Target ORF information:

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

NM_001323004.1

ORF Insert Sequence:

ATGGCTGGCA AAGCACACAG GCTGAGCGCT GAGGAGAGGG ACCAGCTGCT GCCAAACCTG 
AGGGCTGTGG GGTGGAATGA GCTGGAAGGC CGTGATGCCA TCTTCAAGCA GTTTCATTTC 
AAAGACTTCA ACAGGGCCTT TGGGTTCATG ACAAGAGTGG CCCTGCAGGC TGAGAAACTG 
GACCACCATC CTGAATGGTT TAACGTGTAC AACAAGGTCT CAAGGCTACA AGCCTCCGGT 
GTGCAACAAT ACCATCTGCT TTCCTGGTTC TCCAGCTTGC CAACTACAGA TCTTGGGACT 
TGTCAGCCTC CATAA

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

PCBD1 ( NM_001323004.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001309933.1 Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 2, mRNA.

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CloneID	OHu44359
Clone ID Related Accession (Same CDS sequence)	NM_001323004.1 , NM_001323004.2
Accession Version	NM_001323004.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 315bp) 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	2019-09-27
Organism	Homo sapiens(human)
Product	pterin-4-alpha-carbinolamine dehydratase isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC073176.8 and HY292808.1. On May 31, 2019 this sequence version replaced NM_001323004.1. Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has an alternate C-terminus compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: SRR1163657.175472.1, HY292808.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## multifunctional gene product(s) :: PMID: 9092652 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCTGGCA AAGCACACAG GCTGAGCGCT GAGGAGAGGG ACCAGCTGCT GCCAAACCTG 
AGGGCTGTGG GGTGGAATGA GCTGGAAGGC CGTGATGCCA TCTTCAAGCA GTTTCATTTC 
AAAGACTTCA ACAGGGCCTT TGGGTTCATG ACAAGAGTGG CCCTGCAGGC TGAGAAACTG 
GACCACCATC CTGAATGGTT TAACGTGTAC AACAAGGTCT CAAGGCTACA AGCCTCCGGT 
GTGCAACAAT ACCATCTGCT TTCCTGGTTC TCCAGCTTGC CAACTACAGA TCTTGGGACT 
TGTCAGCCTC CATAA

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

RefSeq	NP_001309933.1
CDS	33..347
Translation	MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVSRLQASGVQQYHLLSWFSSLPTTDLGTCQPP

Target ORF information:

RefSeq Version	NM_001323004.2
Organism	Homo sapiens(human)
Definition	Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1), transcript variant 2, mRNA.

Target ORF information:

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

NM_001323004.2

ORF Insert Sequence:

ATGGCTGGCA AAGCACACAG GCTGAGCGCT GAGGAGAGGG ACCAGCTGCT GCCAAACCTG 
AGGGCTGTGG GGTGGAATGA GCTGGAAGGC CGTGATGCCA TCTTCAAGCA GTTTCATTTC 
AAAGACTTCA ACAGGGCCTT TGGGTTCATG ACAAGAGTGG CCCTGCAGGC TGAGAAACTG 
GACCACCATC CTGAATGGTT TAACGTGTAC AACAAGGTCT CAAGGCTACA AGCCTCCGGT 
GTGCAACAAT ACCATCTGCT TTCCTGGTTC TCCAGCTTGC CAACTACAGA TCTTGGGACT 
TGTCAGCCTC CATAA

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

PubMed

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

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Cell164(4)805-17(2016 Feb)
Yang X,Coulombe-Huntington J,Kang S,Sheynkman GM,Hao T,Richardson A,Sun S,Yang F,Shen YA,Murray RR,Spirohn K,Begg BE,Duran-Frigola M,MacWilliams A,Pevzner SJ,Zhong Q,Trigg SA,Tam S,Ghamsari L,Sahni N,Yi S,Rodriguez MD,Balcha D,Tan G,Costanzo M,Andrews B,Boone C,Zhou XJ,Salehi-Ashtiani K,Charloteaux B,Chen AA,Calderwood MA,Aloy P,Roth FP,Hill DE,Iakoucheva LM,Xia Y,Vidal M

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Diabetes63(10)3557-64(2014 Oct)
Simaite D,Kofent J,Gong M,R?schendorf F,Jia S,Arn P,Bentler K,Ellaway C,K?hnen P,Hoffmann GF,Blau N,Spagnoli FM,H?bner N,Raile K

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
Journal of the American Society of Nephrology : JASN25(3)574-86(2014 Mar)
Ferr? S,de Baaij JH,Ferreira P,Germann R,de Klerk JB,Lavrijsen M,van Zeeland F,Venselaar H,Kluijtmans LA,Hoenderop JG,Bindels RJ

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
PloS one7(12)e51954(2012)
Comuzzie AG,Cole SA,Laston SL,Voruganti VS,Haack K,Gibbs RA,Butte NF

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PCBD1 cDNA ORF clone, Homo sapiens(human)

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Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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見積依頼

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FAX

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