• Gene id: 56257

Gene Summary

• Gene Symbol: MEPCE   Gene   UCSC   Ensembl
• Aliases: BCDIN3
• Gene name: methylphosphate capping enzyme
• Alternate names: 7SK snRNA methylphosphate capping enzyme, bicoid-interacting protein 3 homolog, bin3 homolog, bin3, bicoid-interacting 3, homolog,
• Gene location: 7q22.1 (100428789: 100434117)     Exons: 90     NC_000007.14
• OMIM: 611478

Protein Summary

• Protein general information: Q7L2J0  
  • Name: 7SK snRNA methylphosphate capping enzyme (MePCE) (EC 2.1.1. ) (Bicoid interacting protein 3 homolog) (Bin3 homolog)
  • Length: 689  
  • Mass: 74355
  • Tissue specificity: Expressed in chronic myeloid leukemia cells, adrenal gland, brain, cerebellum, kidney, lung, mammary gland and testis. Weakly or not expressed in other tissues. {ECO
• Sequence:

  MIEMAAEKEPFLVPAPPPPLKDESGGGGGPTVPPHQEAASGELRGGTERGPGRCAPSAGSPAAAVGRESPGAAAT
  SSSGPQAQQHRGGGPQAQSHGEARLSDPPGRAAPPDVGEERRGGGGTELGPPAPPRPRNGYQPHRPPGGGGGKRR
  NSCNVGGGGGGFKHPAFKRRRRVNSDCDSVLPSNFLLGGNIFDPLNLNSLLDEEVSRTLNAETPKSSPLPAKGRD
  PVEILIPKDITDPLSLNTCTDEGHVVLASPLKTGRKRHRHRGQHHQQQQAAGGSESHPVPPTAPLTPLLHGEGAS
  QQPRHRGQNRDAPQPYELNTAINCRDEVVSPLPSALQGPSGSLSAPPAASVISAPPSSSSRHRKRRRTSSKSEAG
  ARGGGQGSKEKGRGSWGGRHHHHHPLPAAGFKKQQRKFQYGNYCKYYGYRNPSCEDGRLRVLKPEWFRGRDVLDL
  GCNVGHLTLSIACKWGPSRMVGLDIDSRLIHSARQNIRHYLSEELRLPPQTLEGDPGAEGEEGTTTVRKRSCFPA
  SLTASRGPIAAPQVPLDGADTSVFPNNVVFVTGNYVLDRDDLVEAQTPEYDVVLCLSLTKWVHLNWGDEGLKRMF
  RRIYRHLRPGGILVLEPQPWSSYGKRKTLTETIYKNYYRIQLKPEQFSSYLTSPDVGFSSYELVATPHNTSKGFQ
  RPVYLFHKARSPSH

• Structural information:
  • Protein Domains: (431..68-)
    (/note="Bin3-type-SAM)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00848"-)
  • Interpro: IPR039772  IPR010675  IPR024160  IPR025714  IPR029063  
  • Prosite: PS51515
  • PDB: 5UNA 6DCB 6DCC
  • PDBsum: 5UNA 6DCB 6DCC
  • STRING: ENSP00000308546
• Other Databases: GeneCards:  MEPCE  Malacards:  MEPCE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008171	O-methyltransferase activity	IBA	molecular function
GO:0008173	RNA methyltransferase activity	IBA	molecular function
GO:0017069	snRNA binding	IBA	molecular function
GO:0040031	snRNA modification	IBA	biological process
GO:0016073	snRNA metabolic process	IDA	biological process
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IDA	molecular function
GO:0001510	RNA methylation	IDA	biological process
GO:1904871	positive regulation of protein localization to Cajal body	IDA	biological process
GO:0016073	snRNA metabolic process	IDA	biological process
GO:0001510	RNA methylation	IDA	biological process
GO:0016073	snRNA metabolic process	IDA	biological process
GO:0001510	RNA methylation	IDA	biological process
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:0001510	RNA methylation	IDA	biological process
GO:0040031	snRNA modification	IDA	biological process
GO:0008173	RNA methyltransferase activity	IDA	molecular function
GO:1905382	positive regulation of snRNA transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0040031	snRNA modification	IDA	biological process
GO:1990276	RNA 5'-methyltransferase activity	IDA	molecular function
GO:0040031	snRNA modification	IDA	biological process
GO:1990276	RNA 5'-methyltransferase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0040031	snRNA modification	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008173	RNA methyltransferase activity	IMP	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:0035562	negative regulation of chromatin binding	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	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			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