PEX12 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	PEX12
Entrez Gene ID	5193
Full Name	peroxisomal biogenesis factor 12
Synonyms	PAF-3,PBD3A
General protein information	Preferred Names peroxisomal biogenesis factor 12 Names peroxisome assembly protein 12 peroxin 12 peroxisome assembly factor 3
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 17 Map Location: 17q12
Summary	This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].
Disorder MIM:	601758
Disorder Html:	Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3); Peroxisome biogenesis disorder 3B, 266510 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000286.2	NP_000277.1	peroxisome assembly protein 12
NM_000286.3	NP_000277.1	peroxisome assembly protein 12

Pathways from BioSystems

Homologies

Bos taurus (cattle)	PEX12	NP_001076847.1
Schizosaccharomyces pombe (fission yeast)	SPAPB17E12.03	NP_001018219.2
Pan troglodytes (chimpanzee)	PEX12	XP_523610.2
Danio rerio (zebrafish)	pex12	NP_956499.1
Drosophila melanogaster (fruit fly)	Pex12	NP_608546.1
Mus musculus (house mouse)	Pex12	NP_598786.1
Rattus norvegicus (Norway rat)	Pex12	NP_446373.1
Magnaporthe oryzae (rice blast fungus)	MGG_01771	XP_003714773.1
Neurospora crassa	NCU05245	XP_962009.1
Oryza sativa (rice)	Os10g0467200	NP_001064809.1
Xenopus tropicalis (tropical clawed frog)	pex12	XP_004911685.1
Canis lupus familiaris (dog)	PEX12	XP_548259.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP010497	XP_001237561.2
Arabidopsis thaliana (thale cress)	PEX12	NP_187096.2
Homo sapiens (human)	PEX12	NP_000277.1
Rattus norvegicus (Norway rat)	LOC100909787	XP_006247088.1
Gallus gallus (chicken)	PEX12	XP_415773.2
Caenorhabditis elegans (roundworm)	prx-12	NP_509908.1

Gene Ontology
Bibliography

Related articles in PubMed

PEX14 is required for microtubule-based peroxisome motility in human cells.
Bharti P, Schliebs W, Schievelbusch T, Neuhaus A, David C, Kock K, Herrmann C, Meyer HE, Wiese S, Warscheid B, Theiss C, Erdmann R
Journal of cell science124(Pt 10)1759-68(2011 May)

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG
Human mutation30(3)E467-80(2009 Mar)

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, Korman SH
Journal of human genetics52(7)599-606(2007)

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

the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX12 gene.
Title: Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Highly probable candidate gene for direct sequencing in the context of a peroxisomal biogenesis disorder with a mild clinical phenotype, mosaicism and minimally abnormal peroxisomal parameters in fibroblasts.
Title: A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

A single missense mutation was found in PEX12 in eight neonatal adrenoleukodystrophy, and infantile Refsum disease patients With Peroxisomal Mosaicism.
Title: Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.

examination of role in PEX5 binding of PTS1
Title: PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12.

The following PEX12 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PEX12 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)
OHu26313	NM_000286.3 Latest version!	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$265.30 $379.00
View Old Accession Versions >>
OHu26313	NM_000286.2	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), 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)

PEX12 ( NM_000286.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_000277.1 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.

Price & Availability↑

CloneID	OHu26313
Clone ID Related Accession (Same CDS sequence)	NM_000286.2 , NM_000286.3
Accession Version	NM_000286.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1080bp) 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	2017-10-01
Organism	Homo sapiens(human)
Product	peroxisome assembly protein 12
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA298874.1, U91521.1, BC031085.1 and AI341587.1. This sequence is a reference standard in the RefSeqGene project. On Aug 14, 2008 this sequence version replaced NM_000286.1. 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 :: SRR1660805.53189.1, SRR1803613.182058.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCTGAGC ACGGGGCTCA CTTCACAGCT GCTTCTGTGG CCGATGACCA GCCATCCATC 
TTTGAGGTGG TAGCACAGGA CAGTTTAATG ACAGCAGTGA GACCCGCTCT TCAGCATGTG 
GTCAAGGTTC TTGCAGAATC AAATCCCACC CACTATGGCT TCTTGTGGAG GTGGTTTGAT 
GAAATCTTTA CTCTGCTAGA TCTTCTGCTC CAGCAACATT ATCTGTCTAG AACCAGTGCC 
TCATTTTCTG AAAACTTTTA CGGCTTAAAG AGAATTGTAA TGGGGGACAC TCACAAGTCT 
CAGAGATTGG CTAGTGCTGG TCTCCCAAAG CAGCAGCTTT GGAAATCTAT TATGTTCCTG 
GTTCTTCTTC CCTATCTGAA AGTGAAGCTG GAGAAGCTGG TTTCTAGCCT GAGAGAAGAG 
GATGAATATT CTATTCATCC CCCTTCTTCC CGCTGGAAAC GATTTTACAG AGCTTTCCTG 
GCAGCCTACC CATTTGTGAA CATGGCCTGG GAAGGATGGT TTCTTGTACA ACAACTTCGA 
TACATCCTAG GAAAAGCTCA GCATCACTCA CCACTGCTGA GGCTGGCTGG AGTTCAGCTA 
GGTCGACTGA CAGTTCAGGA TATACAAGCT CTGGAGCACA AACCAGCTAA GGCCAGCATG 
ATGCAGCAAC CAGCCAGGAG TGTTAGTGAG AAGATAAACT CAGCTCTGAA GAAAGCTGTT 
GGGGGTGTTG CCTTATCCCT GTCTACTGGC CTTTCTGTGG GTGTATTCTT CTTGCAGTTC 
CTTGACTGGT GGTACTCATC TGAAAATCAA GAAACCATCA AGTCATTGAC TGCCCTGCCT 
ACTCCACCAC CACCTGTACA CCTAGACTAT AACTCTGATT CTCCCCTCTT ACCCAAAATG 
AAGACTGTGT GCCCACTGTG TCGTAAAACC CGGGTGAATG ATACTGTTCT TGCCACCTCT 
GGCTATGTGT TTTGTTACCG CTGTGTGTTT CATTATGTGA GGAGTCACCA AGCTTGTCCC 
ATCACAGGTT ATCCAACAGA AGTACAACAT CTGATTAAAC TCTACTCCCC TGAGAACTGA

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

RefSeq	NP_000277.1
CDS	617..1696
Translation	MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN

Target ORF information:

RefSeq Version	NM_000286.2
Organism	Homo sapiens(human)
Definition	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.

Target ORF information:

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

NM_000286.2

ORF Insert Sequence:

ATGGCTGAGC ACGGGGCTCA CTTCACAGCT GCTTCTGTGG CCGATGACCA GCCATCCATC 
TTTGAGGTGG TAGCACAGGA CAGTTTAATG ACAGCAGTGA GACCCGCTCT TCAGCATGTG 
GTCAAGGTTC TTGCAGAATC AAATCCCACC CACTATGGCT TCTTGTGGAG GTGGTTTGAT 
GAAATCTTTA CTCTGCTAGA TCTTCTGCTC CAGCAACATT ATCTGTCTAG AACCAGTGCC 
TCATTTTCTG AAAACTTTTA CGGCTTAAAG AGAATTGTAA TGGGGGACAC TCACAAGTCT 
CAGAGATTGG CTAGTGCTGG TCTCCCAAAG CAGCAGCTTT GGAAATCTAT TATGTTCCTG 
GTTCTTCTTC CCTATCTGAA AGTGAAGCTG GAGAAGCTGG TTTCTAGCCT GAGAGAAGAG 
GATGAATATT CTATTCATCC CCCTTCTTCC CGCTGGAAAC GATTTTACAG AGCTTTCCTG 
GCAGCCTACC CATTTGTGAA CATGGCCTGG GAAGGATGGT TTCTTGTACA ACAACTTCGA 
TACATCCTAG GAAAAGCTCA GCATCACTCA CCACTGCTGA GGCTGGCTGG AGTTCAGCTA 
GGTCGACTGA CAGTTCAGGA TATACAAGCT CTGGAGCACA AACCAGCTAA GGCCAGCATG 
ATGCAGCAAC CAGCCAGGAG TGTTAGTGAG AAGATAAACT CAGCTCTGAA GAAAGCTGTT 
GGGGGTGTTG CCTTATCCCT GTCTACTGGC CTTTCTGTGG GTGTATTCTT CTTGCAGTTC 
CTTGACTGGT GGTACTCATC TGAAAATCAA GAAACCATCA AGTCATTGAC TGCCCTGCCT 
ACTCCACCAC CACCTGTACA CCTAGACTAT AACTCTGATT CTCCCCTCTT ACCCAAAATG 
AAGACTGTGT GCCCACTGTG TCGTAAAACC CGGGTGAATG ATACTGTTCT TGCCACCTCT 
GGCTATGTGT TTTGTTACCG CTGTGTGTTT CATTATGTGA GGAGTCACCA AGCTTGTCCC 
ATCACAGGTT ATCCAACAGA AGTACAACAT CTGATTAAAC TCTACTCCCC TGAGAACTGA

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

PEX12 ( NM_000286.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000277.1 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.

Price & Availability↑

CloneID	OHu26313
Clone ID Related Accession (Same CDS sequence)	NM_000286.2 , NM_000286.3
Accession Version	NM_000286.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1080bp) 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	peroxisome assembly protein 12
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA298874.1, U91521.1, BC031085.1 and AI341587.1. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_000286.2. 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 :: SRR3476690.856607.1, SRR1660805.145609.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225873.9/ ENSP00000225873.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCTGAGC ACGGGGCTCA CTTCACAGCT GCTTCTGTGG CCGATGACCA GCCATCCATC 
TTTGAGGTGG TAGCACAGGA CAGTTTAATG ACAGCAGTGA GACCCGCTCT TCAGCATGTG 
GTCAAGGTTC TTGCAGAATC AAATCCCACC CACTATGGCT TCTTGTGGAG GTGGTTTGAT 
GAAATCTTTA CTCTGCTAGA TCTTCTGCTC CAGCAACATT ATCTGTCTAG AACCAGTGCC 
TCATTTTCTG AAAACTTTTA CGGCTTAAAG AGAATTGTAA TGGGGGACAC TCACAAGTCT 
CAGAGATTGG CTAGTGCTGG TCTCCCAAAG CAGCAGCTTT GGAAATCTAT TATGTTCCTG 
GTTCTTCTTC CCTATCTGAA AGTGAAGCTG GAGAAGCTGG TTTCTAGCCT GAGAGAAGAG 
GATGAATATT CTATTCATCC CCCTTCTTCC CGCTGGAAAC GATTTTACAG AGCTTTCCTG 
GCAGCCTACC CATTTGTGAA CATGGCCTGG GAAGGATGGT TTCTTGTACA ACAACTTCGA 
TACATCCTAG GAAAAGCTCA GCATCACTCA CCACTGCTGA GGCTGGCTGG AGTTCAGCTA 
GGTCGACTGA CAGTTCAGGA TATACAAGCT CTGGAGCACA AACCAGCTAA GGCCAGCATG 
ATGCAGCAAC CAGCCAGGAG TGTTAGTGAG AAGATAAACT CAGCTCTGAA GAAAGCTGTT 
GGGGGTGTTG CCTTATCCCT GTCTACTGGC CTTTCTGTGG GTGTATTCTT CTTGCAGTTC 
CTTGACTGGT GGTACTCATC TGAAAATCAA GAAACCATCA AGTCATTGAC TGCCCTGCCT 
ACTCCACCAC CACCTGTACA CCTAGACTAT AACTCTGATT CTCCCCTCTT ACCCAAAATG 
AAGACTGTGT GCCCACTGTG TCGTAAAACC CGGGTGAATG ATACTGTTCT TGCCACCTCT 
GGCTATGTGT TTTGTTACCG CTGTGTGTTT CATTATGTGA GGAGTCACCA AGCTTGTCCC 
ATCACAGGTT ATCCAACAGA AGTACAACAT CTGATTAAAC TCTACTCCCC TGAGAACTGA

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

RefSeq	NP_000277.1
CDS	551..1630
Translation	MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN

Target ORF information:

RefSeq Version	NM_000286.3
Organism	Homo sapiens(human)
Definition	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.

Target ORF information:

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

NM_000286.3

ORF Insert Sequence:

ATGGCTGAGC ACGGGGCTCA CTTCACAGCT GCTTCTGTGG CCGATGACCA GCCATCCATC 
TTTGAGGTGG TAGCACAGGA CAGTTTAATG ACAGCAGTGA GACCCGCTCT TCAGCATGTG 
GTCAAGGTTC TTGCAGAATC AAATCCCACC CACTATGGCT TCTTGTGGAG GTGGTTTGAT 
GAAATCTTTA CTCTGCTAGA TCTTCTGCTC CAGCAACATT ATCTGTCTAG AACCAGTGCC 
TCATTTTCTG AAAACTTTTA CGGCTTAAAG AGAATTGTAA TGGGGGACAC TCACAAGTCT 
CAGAGATTGG CTAGTGCTGG TCTCCCAAAG CAGCAGCTTT GGAAATCTAT TATGTTCCTG 
GTTCTTCTTC CCTATCTGAA AGTGAAGCTG GAGAAGCTGG TTTCTAGCCT GAGAGAAGAG 
GATGAATATT CTATTCATCC CCCTTCTTCC CGCTGGAAAC GATTTTACAG AGCTTTCCTG 
GCAGCCTACC CATTTGTGAA CATGGCCTGG GAAGGATGGT TTCTTGTACA ACAACTTCGA 
TACATCCTAG GAAAAGCTCA GCATCACTCA CCACTGCTGA GGCTGGCTGG AGTTCAGCTA 
GGTCGACTGA CAGTTCAGGA TATACAAGCT CTGGAGCACA AACCAGCTAA GGCCAGCATG 
ATGCAGCAAC CAGCCAGGAG TGTTAGTGAG AAGATAAACT CAGCTCTGAA GAAAGCTGTT 
GGGGGTGTTG CCTTATCCCT GTCTACTGGC CTTTCTGTGG GTGTATTCTT CTTGCAGTTC 
CTTGACTGGT GGTACTCATC TGAAAATCAA GAAACCATCA AGTCATTGAC TGCCCTGCCT 
ACTCCACCAC CACCTGTACA CCTAGACTAT AACTCTGATT CTCCCCTCTT ACCCAAAATG 
AAGACTGTGT GCCCACTGTG TCGTAAAACC CGGGTGAATG ATACTGTTCT TGCCACCTCT 
GGCTATGTGT TTTGTTACCG CTGTGTGTTT CATTATGTGA GGAGTCACCA AGCTTGTCCC 
ATCACAGGTT ATCCAACAGA AGTACAACAT CTGATTAAAC TCTACTCCCC TGAGAACTGA

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

PubMed

PEX14 is required for microtubule-based peroxisome motility in human cells.
Journal of cell science124(Pt 10)1759-68(2011 May)
Bharti P,Schliebs W,Schievelbusch T,Neuhaus A,David C,Kock K,Herrmann C,Meyer HE,Wiese S,Warscheid B,Theiss C,Erdmann R

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Human mutation30(3)E467-80(2009 Mar)
Yik WY,Steinberg SJ,Moser AB,Moser HW,Hacia JG

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Journal of human genetics52(7)599-606(2007)
Zeharia A,Ebberink MS,Wanders RJ,Waterham HR,Gutman A,Nissenkorn A,Korman SH