MTPAP
entrez
55149
canonical
uniprot
Q9NVV4
canonical
ensembl
ENSG00000107951
resolver
ensp
ENSP00000263063
resolver
genesymbol
MTPAP
resolver
genesymbol_syn
PAPD1
resolver
hgnc
HGNC:25532
resolver
uniprot
D3DRX0
resolver
uniprot
Q659E3
resolver
uniprot
Q6P7E5
resolver
uniprot
Q9HA74
resolver
uniprot_entry
PAPD1_HUMAN
resolver
uniprot_sec
D3DRX0
resolver
uniprot_sec
Q659E3
resolver
uniprot_sec
Q6P7E5
resolver
uniprot_sec
Q9HA74
resolver
amino_acid_sequence
MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDLRRDEQPSGSVETGFEDKIPKRRFSEMQNERREQAQRTVLIHCPEKISENKFLKYLSQFGPINNHFFYESFGLYAVVEFCQKESIGSLQNGTHTPSTAMETAIPFRSRFFNLKLKNQTSERSRVRSSNQLPRSNKQLFELLCYAESIDDQLNTLLKEFQLTEENTKLRYLTCSLIEDMAAAYFPDCIVRPFGSSVNTFGKLGCDLDMFLDLDETRNLSAHKISGNFLMEFQVKNVPSERIATQKILSVLGECLDHFGPGCVGVQKILNARCPLVRFSHQASGFQCDLTTNNRIALTSSELLYIYGALDSRVRALVFSVRCWARAHSLTSSIPGAWITNFSLTMMVIFFLQRRSPPILPTLDSLKTLADAEDKCVIEGNNCTFVRDLSRIKPSQNTETLELLLKEFFEYFGNFAFDKNSINIRQGREQNKPDSSPLYIQNPFETSLNISKNVSQSQLQKFVDLARESAWILQQEDTDRPSISSNRPWGLVSLLLPSAPNRKSFTKKKSNKFAIETVKNLLESLKGNRTENFTKTSGKRTISTQT
uniprot
proteins
disease_involvement
DISEASE: 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}.
uniprot
proteins
ec_number
2.7.7.19
uniprot
proteins
function
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:0000269|PubMed:15547249, ECO:0000269|PubMed:15769737, ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:20970105, ECO:0000269|PubMed:21292163}.
uniprot
proteins
mass_dalton
66172
uniprot
proteins
mutagenesis
MUTAGEN 221..222; /note="YF->AA: Reduces dimerization."; /evidence="ECO:0000269|PubMed:21292163"; MUTAGEN 230; /note="F->A: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21292163"; MUTAGEN 259..261; /note="HKI->AAA: No effect on dimerization. Loss of dimerization and of enzyme activity; when associated with 294-AAAA-297."; /evidence="ECO:0000269|PubMed:21292163"; MUTAGEN 294..297; /note="HFGP->AAGA: Reduced dimerization. Loss of dimerization and of enzyme activity; when associated with 259-AAA-261."; /evidence="ECO:0000269|PubMed:21292163"; MUTAGEN 312; /note="L->A: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21292163"; MUTAGEN 325; /note="D->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:21292163"; MUTAGEN 378; /note="F->A: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21292163
uniprot
proteins
protein_family
DNA polymerase type-B-like family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15547249
uniprot
proteins
pubmed
15769737
uniprot
proteins
pubmed
16533400
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18172165
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20970105
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21292163
uniprot
proteins
sequence_length
582
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18172165}. Mitochondrion {ECO:0000269|PubMed:15547249, ECO:0000269|PubMed:15769737}.
uniprot
proteins