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] See more...

Aliases for MTPAP Gene

Aliases for MTPAP Gene

  • Mitochondrial Poly(A) Polymerase 2 3 5
  • PAP-Associated Domain-Containing Protein 1 3 4
  • Poly(A) RNA Polymerase, Mitochondrial 3 4
  • Polynucleotide Adenylyltransferase 3 4
  • Terminal Uridylyltransferase 1 3 4
  • TUTase 1 3 4
  • PAPD1 3 4
  • SPAX4 2 3
  • TENT6 2 3
  • PAP Associated Domain Containing 1 2
  • EC 2.7.7.19 4
  • FLJ10486 2
  • TUTase1 2
  • MTPAP 5
  • MtPAP 4
  • PAP 4

External Ids for MTPAP Gene

Previous HGNC Symbols for MTPAP Gene

  • PAPD1

Previous GeneCards Identifiers for MTPAP Gene

  • GC10M030642
  • GC10M030317
  • GC10M030598
  • GC10M030315
  • GC10M030346
  • GC10M030349
  • GC10M030370
  • GC10M030310
  • GC10M030311
  • GC10M030312
  • GC10M030313
  • GC10M030314
  • GC10M030490
  • GC10M030713

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 Spastic Ataxia 4, Autosomal Recessive and Spastic Ataxia 4. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is TUT1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTPAP Gene

Genomics for MTPAP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTPAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTPAP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTPAP

Top Transcription factor binding sites by QIAGEN in the MTPAP gene promoter:
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • CUTL1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for MTPAP Gene

Latest Assembly
chr10:30,309,801-30,374,448
(GRCh38/hg38)
Size:
64,648 bases
Orientation:
Minus strand

Previous Assembly
chr10:30,598,730-30,638,207
(GRCh37/hg19 by Entrez Gene)
Size:
39,478 bases
Orientation:
Minus strand

chr10:30,598,730-30,663,377
(GRCh37/hg19 by Ensembl)
Size:
64,648 bases
Orientation:
Minus strand

Genomic View for MTPAP Gene

Genes around MTPAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTPAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Cofactor:
    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

Post-translational modifications for MTPAP Gene

  • Ubiquitination at Lys304 and Lys497
  • Modification sites at PhosphoSitePlus

Other Protein References for MTPAP Gene

No data available for DME Specific Peptides for MTPAP Gene

Domains & Families for MTPAP Gene

Gene Families for MTPAP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MTPAP Gene

InterPro:
Blocks:
  • PAP/25A-associated domain

Suggested Antigen Peptide Sequences for MTPAP Gene

GenScript: Design optimal peptide antigens:
  • mtPAP (PAPD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NVV4

UniProtKB/Swiss-Prot:

PAPD1_HUMAN :
  • Belongs to the DNA polymerase type-B-like family.
Family:
  • Belongs to the DNA polymerase type-B-like family.
genes like me logo Genes that share domains with MTPAP: view

Function for MTPAP Gene

Molecular function for MTPAP Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + RNA(n) = diphosphate + RNA(n)-3'-adenine ribonucleotide; Xref=Rhea:RHEA:11332, Rhea:RHEA-COMP:11128, Rhea:RHEA-COMP:14647, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:83400, ChEBI:CHEBI:140626; EC=2.7.7.19; Evidence={ECO:0000269|PubMed:20970105, ECO:0000269|PubMed:21292163};.
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};

Enzyme Numbers (IUBMB) for MTPAP Gene

Phenotypes From GWAS Catalog for MTPAP Gene

Gene Ontology (GO) - Molecular Function for MTPAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 21292163
GO:0002134 UTP binding IDA 21292163
GO:0003723 RNA binding IEA,HDA 22658674
GO:0004652 polynucleotide adenylyltransferase activity IBA,IDA 21292163
genes like me logo Genes that share ontologies with MTPAP: view
genes like me logo Genes that share phenotypes with MTPAP: view

Human Phenotype Ontology for MTPAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTPAP Gene

MGI Knock Outs for MTPAP:
  • Mtpap Mtpap<tm1.1(KOMP)Vlcg>

miRNA for MTPAP Gene

miRTarBase miRNAs that target MTPAP

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTPAP

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTPAP gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTPAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MTPAP: view

Pathways & Interactions for MTPAP Gene

PathCards logo

SuperPathways for MTPAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTPAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006378 mRNA polyadenylation IBA,IDA 21292163
GO:0006397 mRNA processing IBA --
GO:0031123 RNA 3'-end processing IBA 21873635
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 and SIGNOR curated interactions for MTPAP Gene

Drugs & Compounds for MTPAP Gene

(1) Drugs for MTPAP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra 0

(1) Additional Compounds for MTPAP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with MTPAP: view

Transcripts for MTPAP Gene

mRNA/cDNA for MTPAP Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTPAP

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

Expression for MTPAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTPAP Gene

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

This gene is overexpressed in Testis (x7.4).

Protein differential expression in normal tissues from HIPED for MTPAP Gene

This gene is overexpressed in Breast (21.5), Lung (14.7), and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTPAP Gene



Protein tissue co-expression partners for MTPAP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTPAP

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.

Evidence on tissue expression from TISSUES for MTPAP Gene

  • Nervous system(4.5)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTPAP Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with MTPAP: view

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 29 30
  • 99.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTPAP 29 30
  • 86.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTPAP 29 30
  • 83.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtpap 29
  • 80.36 (n)
Mouse
(Mus musculus)
Mammalia Mtpap 29 16 30
  • 79.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTPAP 30
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTPAP 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTPAP 29 30
  • 64.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTPAP 30
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtpap 29
  • 62.34 (n)
Str.5558 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.2632 29
Zebrafish
(Danio rerio)
Actinopterygii LOC563801 29
  • 60.48 (n)
mtpap 30
  • 51 (a)
OneToOne
Dr.17344 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG11418 29 30
  • 43.5 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003293 29
  • 42.84 (n)
Worm
(Caenorhabditis elegans)
Secernentea F31C3.2 30
  • 12 (a)
ManyToMany
Species where no ortholog for MTPAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MTPAP: view image
Alliance of Genome Resources:
Additional Orthologs for MTPAP

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTPAP Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1028088 Uncertain Significance: Ataxia, spastic, 4, autosomal recessive 30,313,685(-) A/G
NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro)
MISSENSE
1029511 Uncertain Significance: Ataxia, spastic, 4, autosomal recessive 30,326,574(-) G/C
NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser)
MISSENSE
1033465 Pathogenic: Ataxia, spastic, 4, autosomal recessive 30,340,254(-) AG/A
NM_018109.4(MTPAP):c.526del (p.Leu176fs)
FRAMESHIFT
994650 Likely Benign: not provided 30,315,996(-) A/G
NM_018109.4(MTPAP):c.1353T>C (p.Phe451=)
SYNONYMOUS
994651 Uncertain Significance: not provided 30,313,972(-) C/T
NM_018109.4(MTPAP):c.1387-1G>A
SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTPAP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv21514 CNV loss 19812545
esv3622787 CNV loss 21293372
nsv1129323 OTHER inversion 24896259
nsv1161936 CNV duplication 26073780
nsv509349 CNV insertion 20534489
nsv831821 CNV loss 17160897

Variation tolerance for MTPAP Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTPAP Gene

Human Gene Mutation Database (HGMD)
MTPAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTPAP
Leiden Open Variation Database (LOVD)
MTPAP

SNP Genotyping and Copy Number Assays for research

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

Disorders for MTPAP Gene

MalaCards: The human disease database

(8) MalaCards diseases for MTPAP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MTPAP in MalaCards View complete list of genes associated with diseases

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 variants 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}.

Additional Disease Information for MTPAP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MTPAP: view

No data available for Genatlas for MTPAP Gene

Publications for MTPAP Gene

  1. Defective mitochondrial mRNA maturation is associated with spastic ataxia. (PMID: 20970105) Crosby AH … Lightowlers RN (American journal of human genetics 2010) 3 4 72
  2. Human mitochondrial mRNAs are stabilized with polyadenylation regulated by mitochondria-specific poly(A) polymerase and polynucleotide phosphorylase. (PMID: 15769737) Nagaike T … Ueda T (The Journal of biological chemistry 2005) 2 3 4
  3. Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase. (PMID: 15547249) Tomecki R … Stepien PP (Nucleic acids research 2004) 2 3 4
  4. A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. (PMID: 25008111) Wilson WC … Lightowlers RN (Human molecular genetics 2014) 3 72
  5. Structural basis for dimerization and activity of human PAPD1, a noncanonical poly(A) polymerase. (PMID: 21292163) Bai Y … Tong L (Molecular cell 2011) 3 4

Products for MTPAP Gene

Sources for MTPAP Gene