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
  • PAP Associated Domain Containing 1 2
  • EC 2.7.7.19 4
  • TUTase1 2
  • SPAX4 3
  • TENT6 3
  • 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
  • GC10M030310
  • GC10M030311
  • GC10M030312
  • GC10M030313
  • GC10M030314

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.

Additional gene information for MTPAP Gene

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 for MTPAP Gene

Promoters and enhancers for MTPAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J030347 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 764.3 +25.9 25867 3.2 SIN3A ZBTB40 SMARCE1 POLR2A USF2 NR2F6 CREB1 HCFC1 ZNF362 MYC MTPAP DDX10P1 DNM1P17 ZEB1-AS1 ENSG00000259994 lnc-JCAD-5 lnc-MTPAP-6
GH10J030374 Enhancer 0.8 Ensembl ENCODE 750.6 +0.6 602 2.1 HLF L3MBTL2 MNT PKNOX1 POLR2A ZBTB20 USF1 CEBPB CEBPG BHLHE40 GOLGA2P6 MTPAP lnc-MTPAP-6 piR-61871-001
GH10J030372 Enhancer 0.5 Ensembl 750.6 +1.9 1947 0.2 GLIS2 OSR2 FOXA2 FOSL2 FOS FEZF1 PRDM6 GOLGA2P6 MTPAP lnc-MTPAP-6 piR-61871-001
GH10J030430 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -60.5 -60480 8.8 ZNF785 SIN3A ZNF24 SP1 MLX RBPJ SMARCE1 POLR2A CTBP1 HDAC2 MAP3K8 lnc-MTPAP-7 MTPAP CKS1BP2 SPTLC1P1 DDX10P1 CCND3P1 piR-42694-019
GH10J031030 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -658.2 -658249 5.2 CTCF POLR2A USF2 ATF1 CREB1 HCFC1 ZNF362 MYC ETV6 L3MBTL2 ZNF438 ENSG00000287564 LOC105376481 lnc-ZEB1-11 LINC02664 DDX10P1 MTPAP
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MTPAP Gene
chr10:30,309,801-30,374,448
(GRCh38/hg38)
Size:
64,648 bases
Orientation:
Minus strand
chr10:30,598,730-30,663,377
(GRCh37/hg19)
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; 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

ENSEMBL proteins:
REFSEQ proteins:

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

Blocks:
InterPro:
ProtoNet:

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:0000287 magnesium ion binding IDA 21292163
GO:0002134 UTP binding IDA 21292163
GO:0003723 RNA binding IEA,HDA 22658674
GO:0004652 polynucleotide adenylyltransferase activity IEA,IDA 21292163
GO:0005515 protein binding IPI 21903422
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>

Animal Model Products

CRISPR Products

miRNA for MTPAP Gene

miRTarBase miRNAs that target MTPAP

Inhibitory RNA Products

  • 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
peroxisome 1
nucleus 1
cytosol 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:0005737 cytoplasm IEA --
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 IDA 21292163
GO:0006397 mRNA processing IEA --
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 Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 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
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with MTPAP: view

Transcripts for MTPAP Gene

mRNA/cDNA for MTPAP Gene

CRISPR Products

Inhibitory RNA Products

  • 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
ECgene alternative splicing isoforms for
MTPAP

Expression for MTPAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of MTPAP Gene:

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(4.4)

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 33 32
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTPAP 33 32
  • 86.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTPAP 33 32
  • 83.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtpap 32
  • 80.36 (n)
mouse
(Mus musculus)
Mammalia Mtpap 17 33 32
  • 79.67 (n)
oppossum
(Monodelphis domestica)
Mammalia MTPAP 33
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTPAP 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTPAP 33 32
  • 64.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTPAP 33
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtpap 32
  • 62.34 (n)
Str.5558 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.2632 32
zebrafish
(Danio rerio)
Actinopterygii LOC563801 32
  • 60.48 (n)
mtpap 33
  • 51 (a)
OneToOne
Dr.17344 32
fruit fly
(Drosophila melanogaster)
Insecta CG11418 33 32
  • 43.5 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003293 32
  • 42.84 (n)
worm
(Caenorhabditis elegans)
Secernentea F31C3.2 33
  • 12 (a)
ManyToMany
Species where no ortholog for MTPAP was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MTPAP: view image

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 Variation AA Info Type
rs1047988 benign, not specified, Ataxia, spastic, 4, autosomal recessive 30,340,207(-) G/A intron_variant
rs1047991 benign, not specified, Ataxia, spastic, 4, autosomal recessive, not provided, - 30,340,297(-) G/A coding_sequence_variant, missense_variant
rs1057518710 uncertain-significance, Ataxia, spastic, 4, autosomal recessive 30,313,890(-) C/A/T coding_sequence_variant, missense_variant
rs139217290 benign, likely-benign, not specified, not provided 30,341,649(-) G/A intron_variant
rs147355590 benign, likely-benign, not specified, not provided 30,316,152(-) A/G coding_sequence_variant, synonymous_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MTPAP Gene

MalaCards: The human disease database

(7) MalaCards diseases for MTPAP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic ataxia 4, autosomal recessive
  • spax4
spastic ataxia 4
spastic ataxia
  • spax
type 1 diabetes mellitus 10
  • diabetes mellitus, insulin-dependent, 10
perlman syndrome
  • nephroblastoma
- 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 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}.

Additional Disease Information for MTPAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MTPAP: view

No data available for Genatlas for MTPAP Gene

Publications for MTPAP Gene

  1. 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 56
  2. Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase. (PMID: 15547249) Tomecki R … Stepien PP (Nucleic acids research 2004) 2 3 4 56
  3. 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 56
  4. Defective mitochondrial mRNA maturation is associated with spastic ataxia. (PMID: 20970105) Crosby AH … Lightowlers RN (American journal of human genetics 2010) 3 4 56
  5. 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 TE … Marzluff WF (Genes & development 2008) 3 4 56

Products for MTPAP Gene

Sources for MTPAP Gene