• Gene id: 51082

Gene Summary

• Gene Symbol: POLR1D   Gene   UCSC   Ensembl
• Aliases: AC19, POLR1C, RPA16, RPA9, RPAC2, RPC16, RPO1-3, TCS2
• Gene name: RNA polymerase I and III subunit D
• Alternate names: DNA-directed RNA polymerases I and III subunit RPAC2, Protein POLR1D, DNA-directed RNA polymerase I subunit D, RNA polymerase I subunit D, RNA polymerases I and III subunit AC2, polymerase (RNA) I polypeptide D, 16kDa, polymerase (RNA) I subunit D,
• Gene location: 13q12.2 (27620742: 27667414)     Exons: 6     NC_000013.11
• Gene summary(Entrez): The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins synd
• OMIM: 613715

Protein Summary

• Protein general information: P0DPB5  
  • Name: Protein POLR1D, isoform 2
  • Length: 122  
  • Mass: 14332
• Sequence:

  MEEDQELERKAIEELLKEAKRGKTRAETMGPMGWMKCPLASTNKRFLINTIKNTLPSHKEQDHEQKEGDKEPAKS
  QAQKEENPKKHRSHPYKHSFRARGSASYSPPRKRSSQDKYEKRSNRR

• Structural information:
  • Interpro: IPR038948  
• Other Databases: GeneCards:  POLR1D  Malacards:  POLR1D
• Protein general information: P0DPB6  
  
  Name: DNA directed RNA polymerases I and III subunit RPAC2 (RNA polymerases I and III subunit AC2) (AC19) (DNA directed RNA polymerase I subunit D) (RNA polymerase I 16 kDa subunit) (RPA16) (RPC16) (hRPA19)
  
  Length: 133  Mass: 15237
• Sequence: MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIMKNPEVEFCGYTTTHP
  SESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKDYKDQKASRNESTF
• Structural information:

  Interpro:	IPR036603  IPR009025  IPR008193  IPR033898
  Prosite:	PS01154
  CDD:	cd07029
  MINT:
  STRING:	ENSP00000302478

• Other Databases: GeneCards:  POLR1D  Malacards:  POLR1D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005736	RNA polymerase I complex	IBA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IBA	contributes to
GO:0005666	RNA polymerase III complex	IBA	cellular component
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:0046983	protein dimerization activity	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	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:0005736	RNA polymerase I complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04623	Cytosolic DNA-sensing pathway
hsa03020	RNA polymerase

Diseases

Associated diseases	References
Treacher Collins syndrome	KEGG:H00610
Treacher Collins syndrome	KEGG:H00610
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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