Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55149
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial poly(A) polymerase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTPAP
Synonyms (NCBI Gene) Gene synonyms aliases
PAPD1, SPAX4, TENT6
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p11.23
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 21292163
GO:0000965 Process Mitochondrial RNA 3'-end processing IDA 21292163
GO:0002134 Function UTP binding IDA 21292163
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613669 25532 ENSG00000107951
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with stronger expression in tissues with high energy requirements: heart, brain, and skeletal muscle. {ECO:0000269|PubMed:15547249}.
Sequence
MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDLRRDEQPSGSVETGFEDKIPK
RRFSEMQNERREQAQRTVLIHCPEKISENKFLKYLSQFGPINNHFFYESFGLYAVVEFCQ
KESIGSLQNGTH
TPSTAMETAIPFRSRFFNLKLKNQTSERSRVRSSNQLPRSNKQLFELL
CYAESIDDQLNTLLKEFQLTEENTKLRYLTCSLIEDMAAAYFPDCIVRPFGSSVNTFGKL
GCDLDMFLDLDETRNLSAHKISGNFLMEFQVKNVPSERIATQKILSVLGECLDHFGPGCV
GVQKILNARCPLVRFSHQASGFQCDLTTNNRIALTSSELLYIYGALDSRVRALVFSVRCW
ARAHSLTSSIPGAWITNFSLTMMVIFFLQRRSPPILPTLDSLK
TLADAEDKCVIEGNNCT
FVRDLSRIKPSQNTETLELLLKEFFEYFGNFAFDKNSINIRQGREQNKPDSSPLYIQNPF
ETSL
NISKNVSQSQLQKFVDLARESAWILQQEDTDRPSISSNRPWGLVSLLLPSAPNRKS
FTKKKSNKFAIETVKNLLESLKGNRTENFTKTSGKRTISTQT
Sequence length 582
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spastic Ataxia Spastic ataxia 4 rs267606900 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Type 1 Associate 17509149
Neoplastic Syndromes Hereditary Associate 35235001
Optic Atrophy Associate 20970105, 25008111
Spastic Ataxia Associate 25008111