• Gene id: 63935

Gene Summary

• Gene Symbol: PCIF1   Gene   UCSC   Ensembl
• Aliases: C20orf67, CAPAM, PPP1R121, hCAPAM, hPCIF1
• Gene name: PDX1 C-terminal inhibiting factor 1
• Alternate names: mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase, PDX-1 C terminus-interacting factor 1, cap-specific adenosine methyltransferase, phosphorylated CTD-interacting factor 1, protein phosphatase 1, regulatory subunit 121,
• Gene location: 20q13.12 (45934673: 45948022)     Exons: 18     NC_000020.11
• OMIM: 618344

Protein Summary

• Protein general information: Q9H4Z3  
  • Name: mRNA (2' O methyladenosine N(6) ) methyltransferase (EC 2.1.1.62) (Cap specific adenosine methyltransferase) (CAPAM) (hCAPAM) (Phosphorylated CTD interacting factor 1) (hPCIF1) (Protein phosphatase 1 regulatory subunit 121)
  • Length: 704  
  • Mass: 80670
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MANENHGSPREEASLLSHSPGTSNQSQPCSPKPIRLVQDLPEELVHAGWEKCWSRRENRPYYFNRFTNQSLWEMP
  VLGQHDVISDPLGLNATPLPQDSSLVETPPAENKPRKRQLSEEQPSGNGVKKPKIEIPVTPTGQSVPSSPSIPGT
  PTLKMWGTSPEDKQQAALLRPTEVYWDLDIQTNAVIKHRGPSEVLPPHPEVELLRSQLILKLRQHYRELCQQREG
  IEPPRESFNRWMLERKVVDKGSDPLLPSNCEPVVSPSMFREIMNDIPIRLSRIKFREEAKRLLFKYAEAARRLIE
  SRSASPDSRKVVKWNVEDTFSWLRKDHSASKEDYMDRLEHLRRQCGPHVSAAAKDSVEGICSKIYHISLEYVKRI
  REKHLAILKENNISEEVEAPEVEPRLVYCYPVRLAVSAPPMPSVEMHMENNVVCIRYKGEMVKVSRNYFSKLWLL
  YRYSCIDDSAFERFLPRVWCLLRRYQMMFGVGLYEGTGLQGSLPVHVFEALHRLFGVSFECFASPLNCYFRQYCS
  AFPDTDGYFGSRGPCLDFAPLSGSFEANPPFCEELMDAMVSHFERLLESSPEPLSFIVFIPEWREPPTPALTRME
  QSRFKRHQLILPAFEHEYRSGSQHICKKEEMHYKAVHNTAVLFLQNDPGFAKWAPTPERLQELSAAYRQSGRSHS
  SGSSSSSSSEAKDRDSGREQGPSREPHPT

• Structural information:
  • Protein Domains: (43..7-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224"-)
  • Interpro: IPR039881  IPR022035  IPR001202  IPR036020  
  • Prosite: PS50020
  • CDD: cd00201
  • PDB: 2JX8 6IRV 6IRW
  • PDBsum: 2JX8 6IRV 6IRW
  • STRING: ENSP00000361486
• Other Databases: GeneCards:  PCIF1  Malacards:  PCIF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0017148	negative regulation of translation	IDA	biological process
GO:0006417	regulation of translation	IDA	NOT|biological process
GO:0099122	RNA polymerase II C-terminal domain binding	IDA	molecular function
GO:1904047	S-adenosyl-L-methionine binding	IDA	molecular function
GO:0099122	RNA polymerase II C-terminal domain binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0080009	mRNA methylation	IDA	biological process
GO:0016422	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	IDA	molecular function
GO:0080009	mRNA methylation	IDA	biological process
GO:0016422	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	IDA	molecular function
GO:0080009	mRNA methylation	IDA	biological process
GO:0016422	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	IDA	molecular function
GO:0080009	mRNA methylation	IDA	biological process
GO:0016422	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0045727	positive regulation of translation	IMP	biological process
GO:0099122	RNA polymerase II C-terminal domain binding	IEA	molecular function
GO:0016422	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016422	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	IEA	molecular function
GO:0080009	mRNA methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray