• Gene id: 8732

Gene Summary

• Gene Symbol: RNGTT   Gene   UCSC   Ensembl
• Aliases: CAP1A, HCE, HCE1, hCAP
• Gene name: RNA guanylyltransferase and 5'-phosphatase
• Alternate names: mRNA-capping enzyme, HCAP1,
• Gene location: 6q15 (8444574: 8489113)     Exons: 16     NC_000019.10
• OMIM: 603512

SNPs

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

Protein Summary

• Protein general information: O60942  
  • Name: mRNA capping enzyme (HCAP1) (HCE) [Includes: Polynucleotide 5' triphosphatase (EC 3.1.3.33) (mRNA 5' triphosphatase) (TPase); mRNA guanylyltransferase (EC 2.7.7.50) (GTP RNA guanylyltransferase) (GTase)]
  • Length: 597  
  • Mass: 68557
  • Tissue specificity: Isoform 1 and isoform 4 (at a lesser extent) are expressed in cerebrum, cerebellum, thyroid, lung, heart, liver, kidney, spleen, large intestine, testis, skin and muscle.
• Sequence:

  MAHNKIPPRWLNCPRRGQPVAGRFLPLKTMLGPRYDSQVAEENRFHPSMLSNYLKSLKVKMGLLVDLTNTSRFYD
  RNDIEKEGIKYIKLQCKGHGECPTTENTETFIRLCERFNERNPPELIGVHCTHGFNRTGFLICAFLVEKMDWSIE
  AAVATFAQARPPGIYKGDYLKELFRRYGDIEEAPPPPLLPDWCFEDDEDEDEDEDGKKESEPGSSASFGKRRKER
  LKLGAIFLEGVTVKGVTQVTTQPKLGEVQQKCHQFCGWEGSGFPGAQPVSMDKQNIKLLDLKPYKVSWKADGTRY
  MMLIDGTNEVFMIDRDNSVFHVSNLEFPFRKDLRMHLSNTLLDGEMIIDRVNGQAVPRYLIYDIIKFNSQPVGDC
  DFNVRLQCIEREIISPRHEKMKTGLIDKTQEPFSVRNKPFFDICTSRKLLEGNFAKEVSHEMDGLIFQPTGKYKP
  GRCDDILKWKPPSLNSVDFRLKITRMGGEGLLPQNVGLLYVGGYERPFAQIKVTKELKQYDNKIIECKFENNSWV
  FMRQRTDKSFPNAYNTAMAVCNSISNPVTKEMLFEFIDRCTAASQGQKRKHHLDPDTELMPPPPPKRPRPLT

• Structural information:
  • Interpro: IPR000340  IPR017074  IPR001339  IPR013846  IPR012340   IPR029021  IPR016130  IPR000387  
  • Prosite: PS00383 PS50056
  • PDB: 2C46 3S24
  • PDBsum: 2C46 3S24
  • DIP: 61014
  • STRING: ENSP00000358497
• Other Databases: GeneCards:  RNGTT  Malacards:  RNGTT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006370	7-methylguanosine mRNA capping	IBA	biological process
GO:0004484	mRNA guanylyltransferase activity	IBA	molecular function
GO:0008192	RNA guanylyltransferase activity	IDA	molecular function
GO:0006396	RNA processing	IDA	biological process
GO:0006370	7-methylguanosine mRNA capping	IDA	biological process
GO:0050355	triphosphatase activity	IDA	molecular function
GO:0004484	mRNA guanylyltransferase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0006370	7-methylguanosine mRNA capping	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0004484	mRNA guanylyltransferase activity	IEA	molecular function
GO:0004651	polynucleotide 5'-phosphatase activity	IEA	molecular function
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	IEA	molecular function
GO:0016791	phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006370	7-methylguanosine mRNA capping	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0004484	mRNA guanylyltransferase activity	IEA	molecular function
GO:0004651	polynucleotide 5'-phosphatase activity	IEA	molecular function
GO:0004651	polynucleotide 5'-phosphatase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0006370	7-methylguanosine mRNA capping	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0098507	polynucleotide 5' dephosphorylation	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0098507	polynucleotide 5' dephosphorylation	IEA	biological process
GO:0098507	polynucleotide 5' dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq