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Aliases for MTPAP Gene

Aliases for MTPAP Gene

  • Mitochondrial Poly(A) Polymerase 2 3
  • PAPD1 3 4 6
  • PAP-Associated Domain-Containing Protein 1 3 4
  • Polynucleotide Adenylyltransferase 3 4
  • Terminal Uridylyltransferase 1 3 4
  • TUTase 1 3 4
  • SPAX4 3 6
  • Poly(A) RNA Polymerase, Mitochondrial 3
  • PAP Associated Domain Containing 1 2
  • EC 2.7.7.19 4
  • TUTase1 2
  • MtPAP 4
  • PAP 4

External Ids for MTPAP Gene

Previous HGNC Symbols for MTPAP Gene

  • PAPD1

Previous GeneCards Identifiers for MTPAP Gene

  • GC10M030642
  • GC10M030598

Summaries for MTPAP Gene

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. GO annotations related to this gene include RNA binding and identical protein binding. An important paralog of this gene is TUT1.

UniProtKB/Swiss-Prot for MTPAP Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTPAP Gene

Genomics for MTPAP Gene

Regulatory Elements for MTPAP Gene

Genomic Location for MTPAP Gene

Start:
30,309,801 bp from pter
End:
30,374,448 bp from pter
Size:
64,648 bases
Orientation:
Minus strand

Genomic View for MTPAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTPAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTPAP Gene

Proteins for MTPAP Gene

  • Protein details for MTPAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVV4-PAPD1_HUMAN
    Recommended name:
    Poly(A) RNA polymerase, mitochondrial
    Protein Accession:
    Q9NVV4
    Secondary Accessions:
    • D3DRX0
    • Q659E3
    • Q6P7E5
    • Q9HA74

    Protein attributes for MTPAP Gene

    Size:
    582 amino acids
    Molecular mass:
    66172 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MTPAP Gene

    Alternative splice isoforms for MTPAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTPAP Gene

Proteomics data for MTPAP Gene at MOPED

Post-translational modifications for MTPAP Gene

  • Ubiquitination at Lys304 and Lys497
  • Modification sites at PhosphoSitePlus

Other Protein References for MTPAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MTPAP Gene

Domains for MTPAP Gene

Protein Domains for MTPAP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MTPAP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NVV4

UniProtKB/Swiss-Prot:

PAPD1_HUMAN :
  • Q9NVV4
Domain:
  • Contains 1 PAP-associated domain.
Family:
  • Belongs to the DNA polymerase type-B-like family.
genes like me logo Genes that share domains with MTPAP: view

No data available for Gene Families for MTPAP Gene

Function for MTPAP Gene

Molecular function for MTPAP Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.1 mM for ATP {ECO:0000269 PubMed:21292163}; KM=0.7 mM for UTP {ECO:0000269 PubMed:21292163};
UniProtKB/Swiss-Prot CatalyticActivity: ATP + RNA(n) = diphosphate + RNA(n+1).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MTPAP Gene

Gene Ontology (GO) - Molecular Function for MTPAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 21292163
GO:0002134 UTP binding IDA 21292163
GO:0004652 polynucleotide adenylyltransferase activity IDA 21292163
GO:0005515 protein binding IPI 21903422
GO:0005524 ATP binding IDA 21292163
genes like me logo Genes that share ontologies with MTPAP: view

Animal Model Products

CRISPR Products

miRNA for MTPAP Gene

miRTarBase miRNAs that target MTPAP

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for MTPAP Gene

Localization for MTPAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTPAP Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTPAP Gene COMPARTMENTS Subcellular localization image for MTPAP gene
Compartment Confidence
mitochondrion 5
golgi apparatus 4
nucleus 4
plasma membrane 4
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for MTPAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA --
GO:0005794 Golgi apparatus --
GO:0005886 plasma membrane --
genes like me logo Genes that share ontologies with MTPAP: view

Pathways for MTPAP Gene

SuperPathways for MTPAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTPAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006378 mRNA polyadenylation IDA 21292163
GO:0008219 cell death --
GO:0071044 histone mRNA catabolic process IMP 18172165
genes like me logo Genes that share ontologies with MTPAP: view

No data available for Pathways by source for MTPAP Gene

Transcripts for MTPAP Gene

Unigene Clusters for MTPAP Gene

Mitochondrial poly(A) polymerase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTPAP

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTPAP Gene

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: -
SP6: - - - -
SP7: -

Relevant External Links for MTPAP Gene

GeneLoc Exon Structure for
MTPAP
ECgene alternative splicing isoforms for
MTPAP

Expression for MTPAP Gene

mRNA expression in normal human tissues for MTPAP Gene

mRNA differential expression in normal tissues according to GTEx for MTPAP Gene

This gene is overexpressed in Testis (7.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTPAP Gene

SOURCE GeneReport for Unigene cluster for MTPAP Gene Hs.173946

mRNA Expression by UniProt/SwissProt for MTPAP Gene

Q9NVV4-PAPD1_HUMAN
Tissue specificity: Ubiquitous, with stronger expression in tissues with high energy requirements: heart, brain, and skeletal muscle.
genes like me logo Genes that share expressions with MTPAP: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MTPAP Gene

Orthologs for MTPAP Gene

This gene was present in the common ancestor of animals.

Orthologs for MTPAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTPAP 35
  • 99.2 (n)
  • 98.97 (a)
MTPAP 36
  • 76 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTPAP 35
  • 83.79 (n)
  • 80.86 (a)
MTPAP 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTPAP 35
  • 86.12 (n)
  • 81.07 (a)
MTPAP 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtpap 35
  • 79.67 (n)
  • 76.63 (a)
Mtpap 16
Mtpap 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTPAP 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTPAP 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtpap 35
  • 80.36 (n)
  • 80.65 (a)
chicken
(Gallus gallus)
Aves MTPAP 35
  • 64.98 (n)
  • 57.97 (a)
MTPAP 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTPAP 36
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2632 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mtpap 35
  • 62.34 (n)
  • 59.25 (a)
Str.5558 35
zebrafish
(Danio rerio)
Actinopterygii Dr.17344 35
LOC563801 35
  • 60.48 (n)
  • 58.13 (a)
mtpap 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003293 35
  • 42.84 (n)
  • 36.63 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11418 35
  • 43.5 (n)
  • 34.75 (a)
CG11418 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F31C3.2 36
  • 12 (a)
ManyToMany
Species with no ortholog for MTPAP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTPAP Gene

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

Paralogs for MTPAP Gene

Paralogs for MTPAP Gene

genes like me logo Genes that share paralogs with MTPAP: view

Variants for MTPAP Gene

Sequence variations from dbSNP and Humsavar for MTPAP Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs525113 -- 30,314,735(+) GGTGT(G/T)GTGGC intron-variant
rs540994 -- 30,311,297(-) GTCCT(G/T)GTGTC utr-variant-3-prime
rs547907 -- 30,314,909(+) AAGAA(A/G)AGAAA intron-variant
rs549333 -- 30,318,742(-) GATAA(C/T)ATTTT intron-variant
rs553563 -- 30,315,515(+) AAAAA(A/C)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTPAP Gene

Variant ID Type Subtype PubMed ID
nsv894993 CNV Gain 21882294
nsv509349 CNV Insertion 20534489
esv21514 CNV Loss 19812545
nsv831821 CNV Loss 17160897

Relevant External Links for MTPAP Gene

HapMap Linkage Disequilibrium report
MTPAP
Human Gene Mutation Database (HGMD)
MTPAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTPAP Gene

Disorders for MTPAP Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for MTPAP Gene including...

Search for MTPAP Gene in MalaCards »

(1) OMIM Diseases for MTPAP Gene (613669)

UniProtKB/Swiss-Prot

PAPD1_HUMAN
  • Spastic ataxia 4, autosomal recessive (SPAX4) [MIM:613672]: A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. {ECO:0000269 PubMed:20970105}. 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). {ECO:0000269 PubMed:20970105}.

Relevant External Links for MTPAP

Genetic Association Database (GAD)
MTPAP
Human Genome Epidemiology (HuGE) Navigator
MTPAP
genes like me logo Genes that share disorders with MTPAP: view

Publications for MTPAP Gene

  1. Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase. (PMID: 15547249) Tomecki R. … Stepien P.P. (Nucleic Acids Res. 2004) 2 3 4
  2. Human mitochondrial mRNAs are stabilized with polyadenylation regulated by mitochondria-specific poly(A) polymerase and polynucleotide phosphorylase. (PMID: 15769737) Nagaike T. … Ueda T. (J. Biol. Chem. 2005) 2 3 4
  3. Defective mitochondrial mRNA maturation is associated with spastic ataxia. (PMID: 20970105) Crosby A.H. … Lightowlers R.N. (Am. J. Hum. Genet. 2010) 3 4
  4. Degradation of histone mRNA requires oligouridylation followed by decapping and simultaneous degradation of the mRNA both 5' to 3' and 3' to 5'. (PMID: 18172165) Mullen T.E. … Marzluff W.F. (Genes Dev. 2008) 3 4
  5. Gene regulation: reviving the message. (PMID: 12239557) Keller W. … Martin G. (Nature 2002) 2 3

Products for MTPAP Gene

Sources for MTPAP Gene

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