Gene Gene information from NCBI Gene database.
Entrez ID 55149
Gene name Mitochondrial poly(A) polymerase
Gene symbol MTPAP
Synonyms (NCBI Gene)
PAPD1SPAX4TENT6
Chromosome 10
Chromosome location 10p11.23
Summary 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.
3
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.
952
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613669 25532 ENSG00000107951
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spastic ataxia Likely pathogenic rs1330765515 RCV001647216
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia 4 Pathogenic rs267606900 RCV000000002
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30050497
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 17481701
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30373693
★☆☆☆☆
Found in Text Mining only
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma in situ of uterine cervix Cervical Intraepithelial Neoplasia BEFREE 11042905
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 25684462
★☆☆☆☆
Found in Text Mining only
Cervical Intraepithelial Neoplasia Cervical Intraepithelial Neoplasia BEFREE 16023184, 21558960, 30374649
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 25684462
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 19349390
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 31037993
★☆☆☆☆
Found in Text Mining only