Entity Details

Primary name PAPD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NVV4
EntryNamePAPD1_HUMAN
FullNamePoly(A) RNA polymerase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length582
SequenceStatuscomplete
DateCreated2006-10-03
DateModified2021-06-02

Ontological Relatives

GenesMTPAP

GO terms

Show/Hide Table
GOName
GO:0000287 magnesium ion binding
GO:0002134 UTP binding
GO:0003723 RNA binding
GO:0004652 polynucleotide adenylyltransferase activity
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0006378 mRNA polyadenylation
GO:0016779 nucleotidyltransferase activity
GO:0030145 manganese ion binding
GO:0031123 RNA 3'-end processing
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043231 intracellular membrane-bounded organelle
GO:0071044 histone mRNA catabolic process
GO:1990817 RNA adenylyltransferase activity

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Mitochondrion

Domains

Show/Hide Table
DomainNameCategoryType
IPR002058 PAP/25A-associatedDomainDomain
IPR041252 RL domainDomainDomain
IPR043519 Nucleotidyltransferase superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
613672 OMIMSpastic ataxia 4, autosomal recessive (SPAX4)A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. 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).