InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTPAP

Summary

InnateDB Protein

IDBP-66587.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTPAP

Protein Name

mitochondrial poly(A) polymerase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000263063

InnateDB Gene

IDBG-66585 (MTPAP)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:15547249, ECO:0000269PubMed:15769737, ECO:0000269PubMed:18172165, ECO:0000269PubMed:20970105, ECO:0000269PubMed:21292163}.

Subcellular Localization

Cytoplasm. Mitochondrion.

Disease Associations

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

Tissue Specificity

Ubiquitous, with stronger expression in tissues with high energy requirements: heart, brain, and skeletal muscle. {ECO:0000269PubMed:15547249}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0002134	UTP binding
GO:0004652	polynucleotide adenylyltransferase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0030145	manganese ion binding
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0044822	poly(A) RNA binding