MTPAP cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	MTPAP
Entrez Gene ID	55149
Full Name	mitochondrial poly(A) polymerase
Synonyms	PAPD1,SPAX4
General protein information	Preferred Names mitochondrial poly(A) polymerase Names poly(A) RNA polymerase, mitochondrial PAP-associated domain-containing protein 1 TUTase 1 polynucleotide adenylyltransferase terminal uridylyltransferase 1
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 10 Map Location: 10p11.23
Summary	The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011].
Disorder MIM:	613669
Disorder Html:	?Spastic ataxia 4, autosomal recessive, 613672 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_018109.3	NP_060579.3	poly(A) RNA polymerase, mitochondrial precursor

Pathways from BioSystems

Homologies

Homo sapiens (human)	MTPAP	NP_060579.3
Canis lupus familiaris (dog)	MTPAP	XP_535150.2
Mus musculus (house mouse)	Mtpap	NP_080433.1
Rattus norvegicus (Norway rat)	Mtpap	NP_001100829.1
Danio rerio (zebrafish)	LOC563801	XP_692256.4
Bos taurus (cattle)	MTPAP	XP_002692192.2
Drosophila melanogaster (fruit fly)	CG11418	NP_001259129.1
Xenopus tropicalis (tropical clawed frog)	mtpap	XP_002940378.2
Pan troglodytes (chimpanzee)	MTPAP	XP_001136690.1
	MTPAP	XP_001083177.1
Gallus gallus (chicken)	MTPAP	XP_418580.4
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP003293	XP_319519.4

Gene Ontology
Bibliography

Related articles in PubMed

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R,
Nature communications711491(2016 May)

Mitochondrial poly(A) polymerase is involved in tRNA repair.
Fiedler M, Rossmanith W, Wahle E, Rammelt C
Nucleic acids research43(20)9937-49(2015 Nov)

A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA, Weisswange I, Mansfeld J, Buchholz F, Hyman AA, Mann M
Cell163(3)712-23(2015 Oct)

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
Wilson WC, Hornig-Do HT, Bruni F, Chang JH, Jourdain AA, Martinou JC, Falkenberg M, Sp?hr H, Larsson NG, Lewis RJ, Hewitt L, Basl? A, Cross HE, Tong L, Lebel RR, Crosby AH, Chrzanowska-Lightowlers ZM, Lightowlers RN
Human molecular genetics23(23)6345-55(2014 Dec)

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

Mitochondrial poly(A) polymerase is able to add the discriminator adenosine to tRNATyr.
Title: Mitochondrial poly(A) polymerase is involved in tRNA repair.

The polymerase activity of mtPAP is modulated by LRPPRC/SLIRP; N478D mtPAP mutation decreases its activity and the alteration in poly(A) length causes dysregulation of post-transcriptional expression and lack of respiratory chain complexes.
Title: A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

Mutation of the MTPAP gene results in a cellular phenotype of increased DNA damage, reduced repair kinetics, increased cell death by apoptosis, and reduced clonogenic survival after exposure to ionizing radiation.
Title: Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.

show that dimerization is required for the catalytic activity of PAPD1
Title: Structural basis for dimerization and activity of human PAPD1, a noncanonical poly(A) polymerase.

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

The following MTPAP gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MTPAP 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.

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***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)	Select
OHu18468	NM_018109.3 Latest version!	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$219.50-$307.30 $439.00

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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)

MTPAP ( NM_018109.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_060579.3 Homo sapiens mitochondrial poly(A) polymerase (MTPAP), mRNA.

Price & Availability↑

CloneID	OHu18468
Clone ID Related Accession (Same CDS sequence)	NM_018109.3
Accession Version	NM_018109.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1749bp) 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	2019-12-26
Organism	Homo sapiens(human)
Product	poly(A) RNA polymerase, mitochondrial precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA086747.1, AK001348.1 and AL353796.16. This sequence is a reference standard in the RefSeqGene project. On Jun 12, 2008 this sequence version replaced NM_018109.2. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because transcript sequence consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. The extent of this transcript is supported by 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 :: SRR1803615.93320.1, SRR1803616.197325.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

ATGGCGGTTC CCGGCGTGGG GCTCTTGACC CGTTTGAACC TGTGTGCCCG GAGAAGAACT 
CGAGTCCAGC GGCCTATCGT CAGGCTTTTG AGTTGCCCAG GAACTGTGGC CAAAGACCTT 
AGGAGAGACG AGCAGCCTTC AGGGAGCGTG GAGACAGGCT TTGAAGACAA GATTCCCAAA 
AGGAGATTCT CTGAGATGCA AAATGAAAGA CGAGAACAGG CACAGCGGAC TGTTTTAATA 
CATTGCCCAG AGAAAATCAG TGAAAACAAG TTTCTTAAAT ATTTATCCCA ATTTGGACCT 
ATTAATAATC ATTTCTTCTA TGAAAGCTTT GGTCTCTATG CTGTCGTAGA ATTTTGCCAA 
AAGGAAAGCA TAGGTTCACT GCAGAATGGG ACTCATACTC CAAGCACGGC CATGGAGACT 
GCAATTCCAT TCAGATCACG TTTCTTCAAT CTGAAGTTGA AAAACCAGAC TTCTGAACGG 
TCACGCGTAC GGTCAAGTAA TCAGTTGCCA CGTTCAAACA AGCAGCTTTT TGAATTACTT 
TGTTATGCAG AAAGTATAGA CGATCAGCTG AACACTCTCT TGAAGGAGTT CCAGCTAACA 
GAGGAGAACA CTAAGCTCCG ATATCTCACC TGTTCTCTTA TTGAAGACAT GGCCGCCGCG 
TATTTTCCAG ACTGCATAGT CAGACCCTTT GGCTCCTCAG TCAACACTTT TGGGAAGTTA 
GGATGTGATT TGGACATGTT TTTGGATCTA GATGAAACCA GAAACCTCAG CGCTCACAAG 
ATCTCAGGAA ATTTTCTGAT GGAATTTCAA GTGAAAAATG TTCCTTCAGA AAGAATTGCA 
ACTCAGAAGA TCCTGTCTGT GTTAGGAGAG TGCCTTGACC ACTTTGGCCC TGGCTGTGTG 
GGTGTGCAAA AAATATTAAA TGCCCGGTGT CCGCTCGTGA GGTTCTCACA CCAGGCCTCC 
GGATTTCAGT GTGATTTGAC TACGAACAAT AGGATTGCCT TGACAAGTTC CGAACTCCTT 
TATATATATG GTGCCCTAGA CTCAAGAGTG AGAGCCTTGG TGTTCAGTGT ACGGTGCTGG 
GCTCGAGCAC ATTCACTAAC AAGTAGTATT CCTGGTGCAT GGATTACAAA TTTCTCCCTT 
ACAATGATGG TCATCTTTTT TCTCCAGAGA AGATCACCCC CTATTCTTCC AACACTAGAT 
TCCTTAAAAA CCCTAGCAGA TGCAGAAGAT AAATGTGTAA TAGAAGGCAA CAACTGCACA 
TTTGTTCGTG ACTTGAGTAG AATTAAACCT TCACAGAACA CAGAAACATT AGAATTACTA 
CTGAAGGAAT TTTTTGAGTA TTTTGGCAAT TTTGCTTTCG ATAAAAATTC CATAAATATT 
CGACAGGGAA GGGAGCAAAA CAAACCTGAT TCTTCTCCTC TGTACATTCA GAATCCATTT 
GAAACTTCTC TCAACATAAG CAAAAATGTA AGTCAAAGCC AGCTGCAAAA ATTTGTAGAT 
TTGGCCCGAG AAAGTGCCTG GATTTTACAA CAGGAAGATA CAGATCGACC TTCCATATCA 
AGTAATCGGC CCTGGGGGCT GGTATCCCTA TTGCTACCAT CTGCTCCAAA CAGAAAGTCC 
TTTACCAAGA AGAAAAGCAA TAAGTTTGCA ATTGAAACAG TCAAAAACTT GCTAGAATCT 
TTAAAAGGTA ACAGAACAGA AAATTTCACA AAAACCAGTG GGAAGAGAAC AATTAGTACT 
CAGACATGA

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

RefSeq	NP_060579.3
CDS	64..1812
Translation	MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDLRRDEQPSGSVETGFEDKIPKRRFSEMQNERREQAQRTVLIHCPEKISENKFLKYLSQFGPINNHFFYESFGLYAVVEFCQKESIGSLQNGTHTPSTAMETAIPFRSRFFNLKLKNQTSERSRVRSSNQLPRSNKQLFELLCYAESIDDQLNTLLKEFQLTEENTKLRYLTCSLIEDMAAAYFPDCIVRPFGSSVNTFGKLGCDLDMFLDLDETRNLSAHKISGNFLMEFQVKNVPSERIATQKILSVLGECLDHFGPGCVGVQKILNARCPLVRFSHQASGFQCDLTTNNRIALTSSELLYIYGALDSRVRALVFSVRCWARAHSLTSSIPGAWITNFSLTMMVIFFLQRRSPPILPTLDSLKTLADAEDKCVIEGNNCTFVRDLSRIKPSQNTETLELLLKEFFEYFGNFAFDKNSINIRQGREQNKPDSSPLYIQNPFETSLNISKNVSQSQLQKFVDLARESAWILQQEDTDRPSISSNRPWGLVSLLLPSAPNRKSFTKKKSNKFAIETVKNLLESLKGNRTENFTKTSGKRTISTQT

Target ORF information:

RefSeq Version	NM_018109.3
Organism	Homo sapiens(human)
Definition	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), mRNA.

Target ORF information:

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

NM_018109.3

ORF Insert Sequence:

ATGGCGGTTC CCGGCGTGGG GCTCTTGACC CGTTTGAACC TGTGTGCCCG GAGAAGAACT 
CGAGTCCAGC GGCCTATCGT CAGGCTTTTG AGTTGCCCAG GAACTGTGGC CAAAGACCTT 
AGGAGAGACG AGCAGCCTTC AGGGAGCGTG GAGACAGGCT TTGAAGACAA GATTCCCAAA 
AGGAGATTCT CTGAGATGCA AAATGAAAGA CGAGAACAGG CACAGCGGAC TGTTTTAATA 
CATTGCCCAG AGAAAATCAG TGAAAACAAG TTTCTTAAAT ATTTATCCCA ATTTGGACCT 
ATTAATAATC ATTTCTTCTA TGAAAGCTTT GGTCTCTATG CTGTCGTAGA ATTTTGCCAA 
AAGGAAAGCA TAGGTTCACT GCAGAATGGG ACTCATACTC CAAGCACGGC CATGGAGACT 
GCAATTCCAT TCAGATCACG TTTCTTCAAT CTGAAGTTGA AAAACCAGAC TTCTGAACGG 
TCACGCGTAC GGTCAAGTAA TCAGTTGCCA CGTTCAAACA AGCAGCTTTT TGAATTACTT 
TGTTATGCAG AAAGTATAGA CGATCAGCTG AACACTCTCT TGAAGGAGTT CCAGCTAACA 
GAGGAGAACA CTAAGCTCCG ATATCTCACC TGTTCTCTTA TTGAAGACAT GGCCGCCGCG 
TATTTTCCAG ACTGCATAGT CAGACCCTTT GGCTCCTCAG TCAACACTTT TGGGAAGTTA 
GGATGTGATT TGGACATGTT TTTGGATCTA GATGAAACCA GAAACCTCAG CGCTCACAAG 
ATCTCAGGAA ATTTTCTGAT GGAATTTCAA GTGAAAAATG TTCCTTCAGA AAGAATTGCA 
ACTCAGAAGA TCCTGTCTGT GTTAGGAGAG TGCCTTGACC ACTTTGGCCC TGGCTGTGTG 
GGTGTGCAAA AAATATTAAA TGCCCGGTGT CCGCTCGTGA GGTTCTCACA CCAGGCCTCC 
GGATTTCAGT GTGATTTGAC TACGAACAAT AGGATTGCCT TGACAAGTTC CGAACTCCTT 
TATATATATG GTGCCCTAGA CTCAAGAGTG AGAGCCTTGG TGTTCAGTGT ACGGTGCTGG 
GCTCGAGCAC ATTCACTAAC AAGTAGTATT CCTGGTGCAT GGATTACAAA TTTCTCCCTT 
ACAATGATGG TCATCTTTTT TCTCCAGAGA AGATCACCCC CTATTCTTCC AACACTAGAT 
TCCTTAAAAA CCCTAGCAGA TGCAGAAGAT AAATGTGTAA TAGAAGGCAA CAACTGCACA 
TTTGTTCGTG ACTTGAGTAG AATTAAACCT TCACAGAACA CAGAAACATT AGAATTACTA 
CTGAAGGAAT TTTTTGAGTA TTTTGGCAAT TTTGCTTTCG ATAAAAATTC CATAAATATT 
CGACAGGGAA GGGAGCAAAA CAAACCTGAT TCTTCTCCTC TGTACATTCA GAATCCATTT 
GAAACTTCTC TCAACATAAG CAAAAATGTA AGTCAAAGCC AGCTGCAAAA ATTTGTAGAT 
TTGGCCCGAG AAAGTGCCTG GATTTTACAA CAGGAAGATA CAGATCGACC TTCCATATCA 
AGTAATCGGC CCTGGGGGCT GGTATCCCTA TTGCTACCAT CTGCTCCAAA CAGAAAGTCC 
TTTACCAAGA AGAAAAGCAA TAAGTTTGCA ATTGAAACAG TCAAAAACTT GCTAGAATCT 
TTAAAAGGTA ACAGAACAGA AAATTTCACA AAAACCAGTG GGAAGAGAAC AATTAGTACT 
CAGACATGA

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

PubMed

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nature communications711491(2016 May)
Boldt K,van Reeuwijk J,Lu Q,Koutroumpas K,Nguyen TM,Texier Y,van Beersum SE,Horn N,Willer JR,Mans DA,Dougherty G,Lamers IJ,Coene KL,Arts HH,Betts MJ,Beyer T,Bolat E,Gloeckner CJ,Haidari K,Hetterschijt L,Iaconis D,Jenkins D,Klose F,Knapp B,Latour B,Letteboer SJ,Marcelis CL,Mitic D,Morleo M,Oud MM,Riemersma M,Rix S,Terhal PA,Toedt G,van Dam TJ,de Vrieze E,Wissinger Y,Wu KM,Apic G,Beales PL,Blacque OE,Gibson TJ,Huynen MA,Katsanis N,Kremer H,Omran H,van Wijk E,Wolfrum U,Kepes F,Davis EE,Franco B,Giles RH,Ueffing M,Russell RB,Roepman R,

Mitochondrial poly(A) polymerase is involved in tRNA repair.
Nucleic acids research43(20)9937-49(2015 Nov)
Fiedler M,Rossmanith W,Wahle E,Rammelt C

A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
Cell163(3)712-23(2015 Oct)
Hein MY,Hubner NC,Poser I,Cox J,Nagaraj N,Toyoda Y,Gak IA,Weisswange I,Mansfeld J,Buchholz F,Hyman AA,Mann M

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
Human molecular genetics23(23)6345-55(2014 Dec)
Wilson WC,Hornig-Do HT,Bruni F,Chang JH,Jourdain AA,Martinou JC,Falkenberg M,Sp?hr H,Larsson NG,Lewis RJ,Hewitt L,Basl? A,Cross HE,Tong L,Lebel RR,Crosby AH,Chrzanowska-Lightowlers ZM,Lightowlers RN

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MTPAP cDNA ORF clone, Homo sapiens(human)

Gene

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Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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