• Gene id: 51095

Gene Summary

• Gene Symbol: TRNT1   Gene   UCSC   Ensembl
• Aliases: CCA1, CGI-47, MtCCA, RPEM, SIFD
• Gene name: tRNA nucleotidyl transferase 1
• Alternate names: CCA tRNA nucleotidyltransferase 1, mitochondrial, ATP(CTP):tRNA nucleotidyltransferase, CCA-adding enzyme, mitochondrial CCA-adding tRNA-nucleotidyltransferase, mt CCA-adding enzyme, mt tRNA CCA-diphosphorylase, mt tRNA CCA-pyrophosphorylase, mt tRNA adenylyltra,
• Gene location: 3p26.2 (3126936: 3153434)     Exons: 11     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tR
• OMIM: 612907

Protein Summary

• Protein general information: Q96Q11  
  • Name: CCA tRNA nucleotidyltransferase 1, mitochondrial (EC 2.7.7.72) (Mitochondrial tRNA nucleotidyl transferase, CCA adding) (mt CCA adding enzyme) (mt tRNA CCA diphosphorylase) (mt tRNA CCA pyrophosphorylase) (mt tRNA adenylyltransferase)
  • Length: 434  
  • Mass: 50128
• Sequence:

  MLRCLYHWHRPVLNRRWSRLCLPKQYLFTMKLQSPEFQSLFTEGLKSLTELFVKENHELRIAGGAVRDLLNGVKP
  QDIDFATTATPTQMKEMFQSAGIRMINNRGEKHGTITARLHEENFEITTLRIDVTTDGRHAEVEFTTDWQKDAER
  RDLTINSMFLGFDGTLFDYFNGYEDLKNKKVRFVGHAKQRIQEDYLRILRYFRFYGRIVDKPGDHDPETLEAIAE
  NAKGLAGISGERIWVELKKILVGNHVNHLIHLIYDLDVAPYIGLPANASLEEFDKVSKNVDGFSPKPVTLLASLF
  KVQDDVTKLDLRLKIAKEEKNLGLFIVKNRKDLIKATDSSDPLKPYQDFIIDSREPDATTRVCELLKYQGEHCLL
  KEMQQWSIPPFPVSGHDIRKVGISSGKEIGALLQQLREQWKKSGYQMEKDELLSYIKKT

• Structural information:
  • Interpro: IPR002646  IPR032828  
  • CDD: cd05398
  • PDB: 1OU5 4X4W
  • PDBsum: 1OU5 4X4W
  • STRING: ENSP00000251607
• Other Databases: GeneCards:  TRNT1  Malacards:  TRNT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001680	tRNA 3'-terminal CCA addition	IDA	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0052928	CTP:3'-cytidine-tRNA cytidylyltransferase activity	IEA	molecular function
GO:0052927	CTP:tRNA cytidylyltransferase activity	IEA	molecular function
GO:0052929	ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0034062	5'-3' RNA polymerase activity	TAS	molecular function
GO:0034062	5'-3' RNA polymerase activity	TAS	molecular function
GO:1990180	mitochondrial tRNA 3'-end processing	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042780	tRNA 3'-end processing	TAS	biological process
GO:0005622	intracellular	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:1990180	mitochondrial tRNA 3'-end processing	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0052929	ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity	IDA	molecular function
GO:0000049	tRNA binding	IDA	molecular function
GO:0005524	ATP binding	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
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)