• Gene id: 5442

Gene Summary

• Gene Symbol: POLRMT   Gene   UCSC   Ensembl
• Aliases: APOLMT, MTRNAP, MTRPOL, h-mtRPOL
• Gene name: RNA polymerase mitochondrial
• Alternate names: DNA-directed RNA polymerase, mitochondrial, polymerase (RNA) mitochondrial (DNA directed),
• Gene location: 19p13.3 (633556: 617220)     Exons: 21     NC_000019.10
• Gene summary(Entrez): This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has
• OMIM: 601778

Protein Summary

• Protein general information: O00411  
  • Name: DNA directed RNA polymerase, mitochondrial (MtRPOL) (EC 2.7.7.6)
  • Length: 1230  
  • Mass: 138620
• Sequence:

  MSALCWGRGAAGLKRALRPCGRPGLPGKEGTAGGVCGPRRSSSASPQEQDQDRRKDWGHVELLEVLQARVRQLQA
  ESVSEVVVNRVDVARLPECGSGDGSLQPPRKVQMGAKDATPVPCGRWAKILEKDKRTQQMRMQRLKAKLQMPFQS
  GEFKALTRRLQVEPRLLSKQMAGCLEDCTRQAPESPWEEQLARLLQEAPGKLSLDVEQAPSGQHSQAQLSGQQQR
  LLAFFKCCLLTDQLPLAHHLLVVHHGQRQKRKLLTLDMYNAVMLGWARQGAFKELVYVLFMVKDAGLTPDLLSYA
  AALQCMGRQDQDAGTIERCLEQMSQEGLKLQALFTAVLLSEEDRATVLKAVHKVKPTFSLPPQLPPPVNTSKLLR
  DVYAKDGRVSYPKLHLPLKTLQCLFEKQLHMELASRVCVVSVEKPTLPSKEVKHARKTLKTLRDQWEKALCRALR
  ETKNRLEREVYEGRFSLYPFLCLLDEREVVRMLLQVLQALPAQGESFTTLARELSARTFSRHVVQRQRVSGQVQA
  LQNHYRKYLCLLASDAEVPEPCLPRQYWEELGAPEALREQPWPLPVQMELGKLLAEMLVQATQMPCSLDKPHRSS
  RLVPVLYHVYSFRNVQQIGILKPHPAYVQLLEKAAEPTLTFEAVDVPMLCPPLPWTSPHSGAFLLSPTKLMRTVE
  GATQHQELLETCPPTALHGALDALTQLGNCAWRVNGRVLDLVLQLFQAKGCPQLGVPAPPSEAPQPPEAHLPHSA
  APARKAELRRELAHCQKVAREMHSLRAEALYRLSLAQHLRDRVFWLPHNMDFRGRTYPCPPHFNHLGSDVARALL
  EFAQGRPLGPHGLDWLKIHLVNLTGLKKREPLRKRLAFAEEVMDDILDSADQPLTGRKWWMGAEEPWQTLACCME
  VANAVRASDPAAYVSHLPVHQDGSCNGLQHYAALGRDSVGAASVNLEPSDVPQDVYSGVAAQVEVFRRQDAQRGM
  RVAQVLEGFITRKVVKQTVMTVVYGVTRYGGRLQIEKRLRELSDFPQEFVWEASHYLVRQVFKSLQEMFSGTRAI
  QHWLTESARLISHMGSVVEWVTPLGVPVIQPYRLDSKVKQIGGGIQSITYTHNGDISRKPNTRKQKNGFPPNFIH
  SLDSSHMMLTALHCYRKGLTFVSVHDCYWTHAADVSVMNQVCREQFVRLHSEPILQDLSRFLVKRFCSEPQKILE
  ASQLKETLQAVPKPGAFDLEQVKRSTYFFS

• Structural information:
  • Interpro: IPR002092  IPR037159  IPR029262  IPR011990  
  • Prosite: PS00900 PS00489
  • PDB: 3SPA 4BOC 5OLA 6ERP 6ERQ
  • PDBsum: 3SPA 4BOC 5OLA 6ERP 6ERQ
  • DIP: 56412
  • STRING: ENSP00000465759
• Other Databases: GeneCards:  POLRMT  Malacards:  POLRMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006390	mitochondrial transcription	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001018	mitochondrial promoter sequence-specific DNA binding	IBA	molecular function
GO:0006390	mitochondrial transcription	IBA	biological process
GO:0034245	mitochondrial DNA-directed RNA polymerase complex	IBA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IBA	molecular function
GO:0006390	mitochondrial transcription	IDA	biological process
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006391	transcription initiation from mitochondrial promoter	TAS	biological process
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray