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MTPAP Gene

protein-coding   GIFtS: 51
GCID: GC10M030598

Mitochondrial Poly(A) Polymerase

(Previous name: PAP associated domain containing 1)
(Previous symbol: PAPD1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrial Poly(A) Polymerase1 2     TUTase11
PAPD11 2 3 5     PAP Associated Domain Containing 11
Polynucleotide Adenylyltransferase2 3     Poly(A) RNA Polymerase, Mitochondrial2
Terminal Uridylyltransferase 12 3     EC 2.7.7.193
PAP-Associated Domain-Containing Protein 12 3     PAP3
TUTase 12 3     mtPAP3
SPAX42 5     

External Ids:    HGNC: 255321   Entrez Gene: 551492   Ensembl: ENSG000001079517   OMIM: 6136695   UniProtKB: Q9NVV43   

Export aliases for MTPAP gene to outside databases

Previous GC identifers: GC10M030642 GC10M030317


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MTPAP Gene:
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)

GeneCards Summary for MTPAP Gene:
MTPAP (mitochondrial poly(A) polymerase) is a protein-coding gene. Diseases associated with MTPAP include ataxia, spastic, 4, and optic atrophy. GO annotations related to this gene include RNA binding and identical protein binding. An important paralog of this gene is TUT1.

UniProtKB/Swiss-Prot: PAPD1_HUMAN, Q9NVV4
Function: Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides,
but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA
degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is
initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTPAP gene promoter:
         E2F-4   E2F-3a   E2F-5   CUTL1   E2F-2   C/EBPalpha   CHOP-10   AREB6   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTPAP promoter sequence
   Search Chromatin IP Primers for MTPAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTPAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p11.23   Ensembl cytogenetic band:  10p11.23   HGNC cytogenetic band: 10p12.1

MTPAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTPAP gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M030598:  view genomic region     (about GC identifiers)

Start:
30,598,730 bp from pter      End:
30,663,377 bp from pter
Size:
64,648 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PAPD1_HUMAN, Q9NVV4 (See protein sequence)
Recommended Name: Poly(A) RNA polymerase, mitochondrial precursor  
Size: 582 amino acids; 66172 Da
Cofactor: Magnesium or manganese
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for MTPAP:
3PQ1 (3D)    
Secondary accessions: D3DRX0 Q659E3 Q6P7E5 Q9HA74
Alternative splicing: 2 isoforms:  Q9NVV4-1   Q9NVV4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MTPAP: NX_Q9NVV4

Explore proteomics data for MTPAP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys304, Lys497
  • Modification sites at PhosphoSitePlus

  • See MTPAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060579.3  
    ENSEMBL proteins: 
     ENSP00000263063   ENSP00000404392   ENSP00000394118   ENSP00000350820  

    MTPAP Human Recombinant Protein Products:

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    Novus Biologicals MTPAP Protein
    Novus Biologicals MTPAP Lysate
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    Cloud-Clone Corp. Proteins for MTPAP

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002058 PAP_assoc

    Graphical View of Domain Structure for InterPro Entry Q9NVV4

    ProtoNet protein and cluster: Q9NVV4

    1 Blocks protein domain: IPB002058 PAP/25A-associated domain

    UniProtKB/Swiss-Prot: PAPD1_HUMAN, Q9NVV4
    Similarity: Belongs to the DNA polymerase type-B-like family
    Similarity: Contains 1 PAP-associated domain


    MTPAP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PAPD1_HUMAN, Q9NVV4
    Function: Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides,
    but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA
    degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is
    initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA
    Catalytic activity: ATP + RNA(n) = diphosphate + RNA(n+1)
    Biophysicochemical properties: Kinetic parameters: KM=0.1 mM for ATP; KM=0.7 mM for UTP;

         Enzyme Number (IUBMB): EC 2.7.7.191

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA--
    GO:0002134UTP binding IDA--
    GO:0003723RNA binding ----
    GO:0004652polynucleotide adenylyltransferase activity IDA--
    GO:0005515protein binding IPI--
         
    MTPAP for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTPAP
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTPAP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTPAP

    miRNA
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    miRTarBase miRNAs that target MTPAP:
    hsa-mir-98-5p (MIRT027699), hsa-mir-93-5p (MIRT028117), hsa-mir-30c-5p (MIRT047923)

    Block miRNA regulation of human, mouse, rat MTPAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTPAP (see all 24):
    hsa-miR-548j hsa-miR-676 hsa-miR-548i hsa-miR-218 hsa-miR-3133 hsa-miR-548a-3p hsa-miR-7-1* hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidMTPAP 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MTPAP
    Predesigned siRNA for gene silencing in human, mouse, rat MTPAP

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: MTPAP (NM_018109)
    Sino Biological Human cDNA Clone for MTPAP
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTPAP

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTPAP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PAPD1_HUMAN, Q9NVV4: Cytoplasm. Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    golgi apparatus4
    nucleus4
    plasma membrane4
    cytosol3
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005794Golgi apparatus IDA--

    MTPAP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTPAP
    Interactions:

        Search GeneGlobe Interaction Network for MTPAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MTPAP (Q9NVV41, 2, 3 ENSP000002630634) via UniProtKB, MINT, STRING, and/or I2D (see all 306)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBK1Q9UHD21, 3, ENSP000003299674EBI-2556166,EBI-356402 I2D: score=1 STRING: ENSP00000329967
    CALCOCO2Q131371, 3, ENSP000002589474EBI-2556166,EBI-739580 I2D: score=1 STRING: ENSP00000258947
    AZI2Q9H6S13, ENSP000004193714I2D: score=1 STRING: ENSP00000419371
    ICT1Q141972, ENSP000003015854MINT-8079030 STRING: ENSP00000301585
    MRPL2Q5T6532, ENSP000003734044MINT-8079030 STRING: ENSP00000373404
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006378mRNA polyadenylation IDA--
    GO:0008219cell death IEA--
    GO:0071044histone mRNA catabolic process IMP18172165

    MTPAP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTPAP (PAPD1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MTPAP gene: 
    NM_018109.3  

    Unigene Cluster for MTPAP:

    Mitochondrial poly(A) polymerase
    Hs.173946  [show with all ESTs]
    Unigene Representative Sequence: NM_018109
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263063 ENST00000488290(uc001ivf.1) ENST00000417581 ENST00000421701(uc001ivc.2)
    ENST00000471055(uc001ivd.2) ENST00000358107(uc001iva.4 uc001ivb.4)

    miRNA
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    Block miRNA regulation of human, mouse, rat MTPAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTPAP (see all 24):
    hsa-miR-548j hsa-miR-676 hsa-miR-548i hsa-miR-218 hsa-miR-3133 hsa-miR-548a-3p hsa-miR-7-1* hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidMTPAP 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MTPAP
    Predesigned siRNA for gene silencing in human, mouse, rat MTPAP
    Clone
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    OriGene ORF clones in mouse, rat for MTPAP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MTPAP (NM_018109)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTPAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTPAP
    Primer
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    OriGene qPCR primer pairs and template standards for MTPAP
    OriGene qSTAR qPCR primer pairs in human, mouse for MTPAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTPAP
      QuantiTect SYBR Green Assays in human, mouse, rat MTPAP
      QuantiFast Probe-based Assays in human, mouse, rat MTPAP

    Additional mRNA sequence: 

    AB194709.1 AK001348.1 AK022188.1 AK125211.1 AY364242.1 BC061703.1 

    10 DOTS entries:

    DT.410378  DT.92426294  DT.101980928  DT.429324  DT.121303648  DT.121303684  DT.92426296  DT.121303747 
    DT.91642227  DT.92426292 

    Selected AceView cDNA sequences (see all 119):

    AI681826 BM819197 AA884787 T71331 AI167205 AI744411 AK001348 BQ000745 
    CA487835 AA618549 BQ272568 BM801639 AI635291 BU619051 CA945008 BE145764 
    AL122121 BX645123 AW008991 Z45791 AW473989 BX115191 BM905354 AW243841 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTPAP (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:              -     -     -     -                             -                                                               
    SP2:              -     -     -     -                             -                                                               
    SP3:              -     -     -     -                 -     -     -                                                               
    SP4:                          -     -                             -                                                               
    SP5:                                                              -                                                               


    ECgene alternative splicing isoforms for MTPAP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MTPAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MTPAP Expression
    About this image

    MTPAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTPAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.173946

    UniProtKB/Swiss-Prot: PAPD1_HUMAN, Q9NVV4
    Tissue specificity: Ubiquitous, with stronger expression in tissues with high energy requirements: heart, brain,
    and skeletal muscle

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    QuantiFast Probe-based Assays in human, mouse, rat MTPAP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTPAP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MTPAP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtpap1 , 5 mitochondrial poly(A) polymerase1, 5 79.67(n)1
    76.63(a)1
      18 (2.77 cM)5
    674401  NM_026157.21  NP_080433.11 
     43755925 
    chicken
    (Gallus gallus)
    Aves MTPAP1 mitochondrial poly(A) polymerase 64.98(n)
    57.97(a)
      420478  XM_418580.4  XP_418580.4 
    lizard
    (Anolis carolinensis)
    Reptilia MTPAP6
    mitochondrial poly(A) polymerase
    59(a)
    1 ↔ 1
    6(13462011-13475249)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.26322 Xenopus laevis transcribed sequence with weak similarity more 70.78(n)    BU900678.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.173442 Transcribed sequence with weak similarity to protein more 72.95(n)    BM184671.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG114181 CG11418 43.5(n)
    34.75(a)
      31081  NM_001272200.1  NP_001259129.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F31C3.26
    Protein F31C3.2, isoform a (F31C3.2) mRNA, complet...
    12(a)
    many ↔ many
    I(15036373-15040487) WBGene00009284


    ENSEMBL Gene Tree for MTPAP (if available)
    TreeFam Gene Tree for MTPAP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTPAP gene
    TUT12  ZCCHC62  ZCCHC112  PAPD42  

    MTPAP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTPAP (see all 1007)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649074
    Spastic ataxia 4, autosomal recessive (SPAX4)4--see VAR_0649072 N D mis40--------
    rs1513208041,2
    C--30503632(+) CAACAA/GCAAAT 1 -- ds50010--------
    rs1813651631,2
    --30503723(+) ACTTCC/TGCGTA 1 -- ds50010--------
    rs744399201,2
    C,F--30503732(+) TATCAC/TATTAA 1 -- ds50012Minor allele frequency- T:0.21CSA WA 119
    rs1406532111,2
    --30503925(+) TTCCCC/TACCAC 1 -- ds50010--------
    rs1863710581,2
    --30503931(+) ACCACA/GGCACC 1 -- ds50010--------
    rs1889220081,2
    --30504042(+) TACAGC/TGTAAG 1 -- ds50010--------
    rs7907601,2
    C,F,H--30504056(-) CTCTAG/CTCAGG 1 -- ds500117Minor allele frequency- C:0.25NS EA NA WA CSA 794
    rs1504008291,2
    C--30504092(+) AAGACA/GCCAAT 1 -- ds50010--------
    rs1465357531,2
    --30504103(+) AGGAAA/GTGACA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MTPAP (30598730 - 30663377 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MTPAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509349CNV Insertion20534489
    nsv831821CNV Loss17160897
    esv21514CNV Loss19812545
    nsv894993CNV Gain21882294

    Human Gene Mutation Database (HGMD): MTPAP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTPAP
    DNA2.0 Custom Variant and Variant Library Synthesis for MTPAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613669   
    OMIM disorders: 613672  
    UniProtKB/Swiss-Prot: PAPD1_HUMAN, Q9NVV4
  • Spastic ataxia 4, autosomal recessive (SPAX4) [MIM:613672]: A slowly progressive neurodegenerative
    disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. Note=The disease
    is caused by mutations affecting the gene represented in this entry. MTPAP mutations result in a defect of
    mitochondrial mRNA maturation. Affected individuals exhibit a drastic decrease in poly(A) tail length of
    mitochondrial mRNA transcripts, including COX1 and RNA14 (PubMed:20970105)

  • 12 diseases for MTPAP:    
    About MalaCards
    ataxia, spastic, 4    optic atrophy    spasticity    spastic paraparesis
    cerebellar ataxia    ataxia    type 1 diabetes    obesity
    alzheimer's disease    multiple myeloma    myeloma    malaria


    MTPAP for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTPAP
    Human Genome Epidemiology (HuGE) Navigator: MTPAP (6 documents)

    Export disorders for MTPAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MTPAP gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with MTPAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human mitochondrial mRNAs are stabilized with polyadenylation regulated by mitochondria-specific poly(A) polymerase and polynucleotide phosphorylase. (PubMed id 15769737)1, 2, 3 Nagaike T.... Ueda T. (J. Biol. Chem. 2005)
    2. Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase. (PubMed id 15547249)1, 2, 3 Tomecki R....Stepien P.P. (Nucleic Acids Res. 2004)
    3. Structural basis for dimerization and activity of human PAPD1, a noncanonical poly(A) polymerase. (PubMed id 21292163)1, 2 Bai Y.... Tong L. (Mol. Cell 2011)
    4. Defective mitochondrial mRNA maturation is associated with spastic ataxia. (PubMed id 20970105)1, 2 Crosby A.H....Lightowlers R.N. (Am. J. Hum. Genet. 2010)
    5. Degradation of histone mRNA requires oligouridylation followed by decapping and simultaneous degradation of the mRNA both 5' to 3' and 3' to 5'. (PubMed id 18172165)1, 2 Mullen T.E. and Marzluff W.F. (Genes Dev. 2008)
    6. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    10. Gene regulation: reviving the message. (PubMed id 12239557)1, 3 Keller W. and Martin G. (Nature 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55149 HGNC: 25532 AceView: PAPD1 Ensembl:ENSG00000107951 euGenes: HUgn55149
    ECgene: MTPAP H-InvDB: MTPAP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MTPAP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MTPAP gene:
    Search GeneIP for patents involving MTPAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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