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MTPAP (mitochondrial poly(A) polymerase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55149
Gene nameGene Name - the full gene name approved by the HGNC.
Mitochondrial poly(A) polymerase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MTPAP
SynonymsGene synonyms aliases
PAPD1, SPAX4, TENT6
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p11.23
SummarySummary of gene provided in NCBI Entrez 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 201
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs147174746 G>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs267606900 T>C Pathogenic Coding sequence variant, missense variant
rs918158750 G>A Uncertain-significance, likely-pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027699 hsa-miR-98-5p Microarray 19088304
MIRT028117 hsa-miR-93-5p Sequencing 20371350
MIRT047923 hsa-miR-30c-5p CLASH 23622248
MIRT531845 hsa-miR-3609 PAR-CLIP 21572407
MIRT531843 hsa-miR-548ah-5p PAR-CLIP 21572407
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 21292163
GO:0002134 Function UTP binding IDA 21292163
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0004652 Function Polynucleotide adenylyltransferase activity IDA 21292163
GO:0005515 Function Protein binding IPI 21903422
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9NVV4
Protein name Poly(A) RNA polymerase, mitochondrial (PAP) (EC 2.7.7.19) (PAP-associated domain-containing protein 1) (Polynucleotide adenylyltransferase) (Terminal uridylyltransferase 1) (TUTase 1) (mtPAP)
Protein 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 t
PDB 3PQ1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17797 RL
62 132
RL domain
Domain
PF19088 TUTase
279 403
Domain
PF03828 PAP_assoc
436 484
Cid1 family poly A polymerase
Family
Sequence
MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDLRRDEQPSGSVETGFEDKIPK
RRFSEMQNERREQAQRTVLIHCPEKISENKFLKYLSQFGPINNHFFYESFGLYAVVEFCQ
KESIGSLQNGTH
TPSTAMETAIPFRSRFFNLKLKNQTSERSRVRSSNQLPRSNKQLFELL
CYAESIDDQLNTLLKEFQLTEENTKLRYLTCSLIEDMAAAYFPDCIVRPFGSSVNTFGKL
GCDLDMFLDLDETRNLSAHKISGNFLMEFQVKNVPSERIATQKILSVLGECLDHFGPGCV
GVQKILNARCPLVRFSHQASGFQCDLTTNNRIALTSSELLYIYGALDSRVRALVFSVRCW
ARAHSLTSSIPGAWITNFSLTMMVIFFLQRRSPPILPTLDSLK
TLADAEDKCVIEGNNCT
FVRDLSRIKPSQNTETLELLLKEFFEYFGNFAFDKNSINIRQGREQNKPDSSPLYIQNPF
ETSL
NISKNVSQSQLQKFVDLARESAWILQQEDTDRPSISSNRPWGLVSLLLPSAPNRKS
FTKKKSNKFAIETVKNLLESLKGNRTENFTKTSGKRTISTQT
Sequence length 582
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 22535842
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy Optic Atrophy rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Unknown
Disease name Disease term dbSNP ID References
Dysarthria Dysarthria
Mood swings Mood swings
Motor delay Clumsiness - motor delay
Spastic ataxia-optic atrophy-dysarthria syndrome Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

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