• Gene id: 55149

Gene Summary

• Gene Symbol: MTPAP   Gene   UCSC   Ensembl
• Aliases: PAPD1, SPAX4, TENT6
• Gene name: mitochondrial poly(A) polymerase
• Alternate names: poly(A) RNA polymerase, mitochondrial, PAP-associated domain-containing protein 1, TUTase 1, polynucleotide adenylyltransferase, terminal uridylyltransferase 1,
• Gene location: 10p11.23 (30349337: 30309800)     Exons: 9     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 613669

Protein Summary

• Protein general information: Q9NVV4  
  • 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)
  • Length: 582  
  • Mass: 66172
  • Tissue specificity: Ubiquitous, with stronger expression in tissues with high energy requirements
• Sequence:

  MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDLRRDEQPSGSVETGFEDKIPKRRFSEMQNERREQAQ
  RTVLIHCPEKISENKFLKYLSQFGPINNHFFYESFGLYAVVEFCQKESIGSLQNGTHTPSTAMETAIPFRSRFFN
  LKLKNQTSERSRVRSSNQLPRSNKQLFELLCYAESIDDQLNTLLKEFQLTEENTKLRYLTCSLIEDMAAAYFPDC
  IVRPFGSSVNTFGKLGCDLDMFLDLDETRNLSAHKISGNFLMEFQVKNVPSERIATQKILSVLGECLDHFGPGCV
  GVQKILNARCPLVRFSHQASGFQCDLTTNNRIALTSSELLYIYGALDSRVRALVFSVRCWARAHSLTSSIPGAWI
  TNFSLTMMVIFFLQRRSPPILPTLDSLKTLADAEDKCVIEGNNCTFVRDLSRIKPSQNTETLELLLKEFFEYFGN
  FAFDKNSINIRQGREQNKPDSSPLYIQNPFETSLNISKNVSQSQLQKFVDLARESAWILQQEDTDRPSISSNRPW
  GLVSLLLPSAPNRKSFTKKKSNKFAIETVKNLLESLKGNRTENFTKTSGKRTISTQT

• Structural information:
  • Protein Domains: (437..48-)
    (/note="PAP-associated"-)
  • Interpro: IPR002058  IPR041252  
  • PDB: 3PQ1
  • PDBsum: 3PQ1
  • STRING: ENSP00000263063
• Other Databases: GeneCards:  MTPAP  Malacards:  MTPAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016779	nucleotidyltransferase activity	IBA	molecular function
GO:0006397	mRNA processing	IBA	biological process
GO:0006378	mRNA polyadenylation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004652	polynucleotide adenylyltransferase activity	IBA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0002134	UTP binding	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0006378	mRNA polyadenylation	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0004652	polynucleotide adenylyltransferase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004652	polynucleotide adenylyltransferase activity	IEA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0071044	histone mRNA catabolic process	IMP	biological process

Diseases

Associated diseases	References
Spastic ataxia	KEGG:H01351
Spastic ataxia	KEGG:H01351
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq