UniProtKB - Q9NVV4 (PAPD1_HUMAN)
Poly(A) RNA polymerase, mitochondrial
MTPAP
Functioni
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.
5 PublicationsCatalytic activityi
- EC:2.7.7.192 Publications
Cofactori
Kineticsi
- KM=0.1 mM for ATP1 Publication
- KM=0.7 mM for UTP1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 243 | Magnesium; catalyticBy similarity | 1 | |
Metal bindingi | 245 | Magnesium; catalyticBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 107 – 109 | ATPSequence analysis | 3 | |
Nucleotide bindingi | 241 – 242 | ATPSequence analysis | 2 |
GO - Molecular functioni
- ATP binding Source: UniProtKB
- identical protein binding Source: IntAct
- magnesium ion binding Source: UniProtKB
- manganese ion binding Source: UniProtKB
- nucleotidyltransferase activity Source: GO_Central
- polynucleotide adenylyltransferase activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- RNA adenylyltransferase activity Source: GO_Central
- RNA binding Source: UniProtKB
- UTP binding Source: UniProtKB
GO - Biological processi
- histone mRNA catabolic process Source: UniProtKB
- mRNA polyadenylation Source: UniProtKB
- RNA 3'-end processing Source: GO_Central
Keywordsi
Molecular function | Nucleotidyltransferase, RNA-binding, Transferase |
Biological process | mRNA processing, Transcription |
Ligand | ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.7.19, 2681 |
PathwayCommonsi | Q9NVV4 |
SABIO-RKi | Q9NVV4 |
SignaLinki | Q9NVV4 |
Names & Taxonomyi
Protein namesi | Recommended name: Poly(A) RNA polymerase, mitochondrial (EC:2.7.7.192 Publications)Short name: PAP Alternative name(s): PAP-associated domain-containing protein 1 Polynucleotide adenylyltransferase Terminal uridylyltransferase 1 Short name: TUTase 1 mtPAP |
Gene namesi | Name:MTPAP Synonyms:PAPD1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25532, MTPAP |
MIMi | 613669, gene |
neXtProti | NX_Q9NVV4 |
VEuPathDBi | HostDB:ENSG00000107951 |
Subcellular locationi
Mitochondrion
- Mitochondrion 2 Publications
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Mitochondrion
- mitochondrion Source: HPA
Nucleus
- nucleoplasm Source: HPA
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
Cytoplasm, MitochondrionPathology & Biotechi
Involvement in diseasei
Spastic ataxia 4, autosomal recessive (SPAX4)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064907 | 478 | N → D in SPAX4. 1 PublicationCorresponds to variant dbSNP:rs267606900EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 221 – 222 | YF → AA: Reduces dimerization. 1 Publication | 2 | |
Mutagenesisi | 230 | F → A: Reduced enzyme activity. 1 Publication | 1 | |
Mutagenesisi | 259 – 261 | HKI → AAA: No effect on dimerization. Loss of dimerization and of enzyme activity; when associated with 294-AAAA-297. 1 Publication | 3 | |
Mutagenesisi | 294 – 297 | HFGP → AAGA: Reduced dimerization. Loss of dimerization and of enzyme activity; when associated with 259-AAA-261. 1 Publication | 4 | |
Mutagenesisi | 312 | L → A: Reduced enzyme activity. 1 Publication | 1 | |
Mutagenesisi | 325 | D → A: Loss of enzyme activity. 1 Publication | 1 | |
Mutagenesisi | 378 | F → A: Reduced enzyme activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 55149 |
MalaCardsi | MTPAP |
MIMi | 613672, phenotype |
OpenTargetsi | ENSG00000107951 |
Orphaneti | 254343, Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome |
PharmGKBi | PA164723192 |
Miscellaneous databases
Pharosi | Q9NVV4, Tbio |
Genetic variation databases
BioMutai | MTPAP |
DMDMi | 74753002 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 37 | MitochondrionSequence analysisAdd BLAST | 37 | |
ChainiPRO_0000250689 | 38 – 582 | Poly(A) RNA polymerase, mitochondrialAdd BLAST | 545 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 90 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9NVV4 |
jPOSTi | Q9NVV4 |
MassIVEi | Q9NVV4 |
MaxQBi | Q9NVV4 |
PaxDbi | Q9NVV4 |
PeptideAtlasi | Q9NVV4 |
PRIDEi | Q9NVV4 |
ProteomicsDBi | 82864 [Q9NVV4-1] 82865 [Q9NVV4-2] |
PTM databases
iPTMneti | Q9NVV4 |
PhosphoSitePlusi | Q9NVV4 |
SwissPalmi | Q9NVV4 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000107951, Expressed in oocyte and 237 other tissues |
ExpressionAtlasi | Q9NVV4, baseline and differential |
Genevisiblei | Q9NVV4, HS |
Organism-specific databases
HPAi | ENSG00000107951, Tissue enhanced (bone) |
Interactioni
Subunit structurei
Homodimer.
1 PublicationBinary interactionsi
Q9NVV4
With | #Exp. | IntAct |
---|---|---|
CALCOCO2 [Q13137] | 2 | EBI-2556166,EBI-739580 |
itself | 3 | EBI-2556166,EBI-2556166 |
TBK1 [Q9UHD2] | 2 | EBI-2556166,EBI-356402 |
Azi2 [Q9QYP6] from Mus musculus. | 2 | EBI-2556166,EBI-6115874 |
GO - Molecular functioni
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120452, 169 interactors |
IntActi | Q9NVV4, 27 interactors |
MINTi | Q9NVV4 |
STRINGi | 9606.ENSP00000263063 |
Miscellaneous databases
RNActi | Q9NVV4, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9NVV4 |
SMRi | Q9NVV4 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9NVV4 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 437 – 483 | PAP-associatedAdd BLAST | 47 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2277, Eukaryota |
GeneTreei | ENSGT00940000158582 |
HOGENOMi | CLU_018757_3_1_1 |
InParanoidi | Q9NVV4 |
OMAi | RTVLIKC |
OrthoDBi | 1188122at2759 |
PhylomeDBi | Q9NVV4 |
TreeFami | TF354308 |
Family and domain databases
Gene3Di | 3.30.460.10, 1 hit |
InterProi | View protein in InterPro IPR043519, NT_sf IPR002058, PAP_assoc IPR041252, RL IPR045100, TUTase_dom |
Pfami | View protein in Pfam PF03828, PAP_assoc, 1 hit PF17797, RL, 1 hit PF19088, TUTase, 1 hit |
SUPFAMi | SSF81301, SSF81301, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAVPGVGLLT RLNLCARRRT RVQRPIVRLL SCPGTVAKDL RRDEQPSGSV
60 70 80 90 100
ETGFEDKIPK RRFSEMQNER REQAQRTVLI HCPEKISENK FLKYLSQFGP
110 120 130 140 150
INNHFFYESF GLYAVVEFCQ KESIGSLQNG THTPSTAMET AIPFRSRFFN
160 170 180 190 200
LKLKNQTSER SRVRSSNQLP RSNKQLFELL CYAESIDDQL NTLLKEFQLT
210 220 230 240 250
EENTKLRYLT CSLIEDMAAA YFPDCIVRPF GSSVNTFGKL GCDLDMFLDL
260 270 280 290 300
DETRNLSAHK ISGNFLMEFQ VKNVPSERIA TQKILSVLGE CLDHFGPGCV
310 320 330 340 350
GVQKILNARC PLVRFSHQAS GFQCDLTTNN RIALTSSELL YIYGALDSRV
360 370 380 390 400
RALVFSVRCW ARAHSLTSSI PGAWITNFSL TMMVIFFLQR RSPPILPTLD
410 420 430 440 450
SLKTLADAED KCVIEGNNCT FVRDLSRIKP SQNTETLELL LKEFFEYFGN
460 470 480 490 500
FAFDKNSINI RQGREQNKPD SSPLYIQNPF ETSLNISKNV SQSQLQKFVD
510 520 530 540 550
LARESAWILQ QEDTDRPSIS SNRPWGLVSL LLPSAPNRKS FTKKKSNKFA
560 570 580
IETVKNLLES LKGNRTENFT KTSGKRTIST QT
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5T852 | Q5T852_HUMAN | Poly(A) RNA polymerase, mitochondri... | MTPAP | 219 | Annotation score: | ||
Q5T851 | Q5T851_HUMAN | Poly(A) RNA polymerase, mitochondri... | MTPAP | 150 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 507 | W → L in BAB13981 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 554 | V → A in BAB13981 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027601 | 162 | R → C. Corresponds to variant dbSNP:rs1047991EnsemblClinVar. | 1 | |
Natural variantiVAR_027602 | 221 | Y → H1 PublicationCorresponds to variant dbSNP:rs17855118Ensembl. | 1 | |
Natural variantiVAR_027603 | 419 | C → R1 PublicationCorresponds to variant dbSNP:rs17857517Ensembl. | 1 | |
Natural variantiVAR_064907 | 478 | N → D in SPAX4. 1 PublicationCorresponds to variant dbSNP:rs267606900EnsemblClinVar. | 1 | |
Natural variantiVAR_027604 | 546 | S → N1 PublicationCorresponds to variant dbSNP:rs17855116EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_020724 | 1 – 52 | MAVPG…GSVET → MAWAKKVGGRAGQGRSLSRC DPIILDPEWLYGPPEGEGGP EGVGGETRASIHPPLRTGRH HQKVNHNIRGPEGSAKDAAP GGGGHHQAGPGQRGDEDGAL QHLCGGGGGVGVSVGRGTGT SVAAEHPSLQVKLLELQELV LRLAGDHNEGHGKFLAAAQN PADDPAPGAPAPQELGAADK QG in isoform 2. 1 PublicationAdd BLAST | 52 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB194709 mRNA Translation: BAD98252.1 AY364242 mRNA Translation: AAQ76801.1 AK001348 mRNA Translation: BAA91641.1 AK022188 mRNA Translation: BAB13981.1 AL122121 mRNA Translation: CAH56395.1 AL161651 Genomic DNA No translation available. AL353796 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86014.1 CH471072 Genomic DNA Translation: EAW86015.1 BC061703 mRNA Translation: AAH61703.1 |
CCDSi | CCDS7165.1 [Q9NVV4-1] |
RefSeqi | NP_060579.3, NM_018109.3 [Q9NVV4-1] |
Genome annotation databases
Ensembli | ENST00000263063.9; ENSP00000263063.3; ENSG00000107951.15 |
GeneIDi | 55149 |
KEGGi | hsa:55149 |
MANE-Selecti | ENST00000263063.9; ENSP00000263063.3; NM_018109.4; NP_060579.3 |
UCSCi | uc001iva.5, human [Q9NVV4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB194709 mRNA Translation: BAD98252.1 AY364242 mRNA Translation: AAQ76801.1 AK001348 mRNA Translation: BAA91641.1 AK022188 mRNA Translation: BAB13981.1 AL122121 mRNA Translation: CAH56395.1 AL161651 Genomic DNA No translation available. AL353796 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86014.1 CH471072 Genomic DNA Translation: EAW86015.1 BC061703 mRNA Translation: AAH61703.1 |
CCDSi | CCDS7165.1 [Q9NVV4-1] |
RefSeqi | NP_060579.3, NM_018109.3 [Q9NVV4-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3PQ1 | X-ray | 3.10 | A/B | 44-134 | [»] | |
A/B | 172-452 | [»] | ||||
A/B | 490-538 | [»] | ||||
AlphaFoldDBi | Q9NVV4 | |||||
SMRi | Q9NVV4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120452, 169 interactors |
IntActi | Q9NVV4, 27 interactors |
MINTi | Q9NVV4 |
STRINGi | 9606.ENSP00000263063 |
PTM databases
iPTMneti | Q9NVV4 |
PhosphoSitePlusi | Q9NVV4 |
SwissPalmi | Q9NVV4 |
Genetic variation databases
BioMutai | MTPAP |
DMDMi | 74753002 |
Proteomic databases
EPDi | Q9NVV4 |
jPOSTi | Q9NVV4 |
MassIVEi | Q9NVV4 |
MaxQBi | Q9NVV4 |
PaxDbi | Q9NVV4 |
PeptideAtlasi | Q9NVV4 |
PRIDEi | Q9NVV4 |
ProteomicsDBi | 82864 [Q9NVV4-1] 82865 [Q9NVV4-2] |
Protocols and materials databases
Antibodypediai | 35309, 102 antibodies from 16 providers |
DNASUi | 55149 |
Genome annotation databases
Ensembli | ENST00000263063.9; ENSP00000263063.3; ENSG00000107951.15 |
GeneIDi | 55149 |
KEGGi | hsa:55149 |
MANE-Selecti | ENST00000263063.9; ENSP00000263063.3; NM_018109.4; NP_060579.3 |
UCSCi | uc001iva.5, human [Q9NVV4-1] |
Organism-specific databases
CTDi | 55149 |
DisGeNETi | 55149 |
GeneCardsi | MTPAP |
HGNCi | HGNC:25532, MTPAP |
HPAi | ENSG00000107951, Tissue enhanced (bone) |
MalaCardsi | MTPAP |
MIMi | 613669, gene 613672, phenotype |
neXtProti | NX_Q9NVV4 |
OpenTargetsi | ENSG00000107951 |
Orphaneti | 254343, Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome |
PharmGKBi | PA164723192 |
VEuPathDBi | HostDB:ENSG00000107951 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2277, Eukaryota |
GeneTreei | ENSGT00940000158582 |
HOGENOMi | CLU_018757_3_1_1 |
InParanoidi | Q9NVV4 |
OMAi | RTVLIKC |
OrthoDBi | 1188122at2759 |
PhylomeDBi | Q9NVV4 |
TreeFami | TF354308 |
Enzyme and pathway databases
BRENDAi | 2.7.7.19, 2681 |
PathwayCommonsi | Q9NVV4 |
SABIO-RKi | Q9NVV4 |
SignaLinki | Q9NVV4 |
Miscellaneous databases
BioGRID-ORCSi | 55149, 501 hits in 1093 CRISPR screens |
ChiTaRSi | MTPAP, human |
EvolutionaryTracei | Q9NVV4 |
GenomeRNAii | 55149 |
Pharosi | Q9NVV4, Tbio |
PROi | PR:Q9NVV4 |
RNActi | Q9NVV4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000107951, Expressed in oocyte and 237 other tissues |
ExpressionAtlasi | Q9NVV4, baseline and differential |
Genevisiblei | Q9NVV4, HS |
Family and domain databases
Gene3Di | 3.30.460.10, 1 hit |
InterProi | View protein in InterPro IPR043519, NT_sf IPR002058, PAP_assoc IPR041252, RL IPR045100, TUTase_dom |
Pfami | View protein in Pfam PF03828, PAP_assoc, 1 hit PF17797, RL, 1 hit PF19088, TUTase, 1 hit |
SUPFAMi | SSF81301, SSF81301, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PAPD1_HUMAN | |
Accessioni | Q9NVV4Primary (citable) accession number: Q9NVV4 Secondary accession number(s): D3DRX0 Q9HA74 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 3, 2006 |
Last sequence update: | October 1, 2000 | |
Last modified: | May 25, 2022 | |
This is version 167 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families