• Gene id: 51493

Gene Summary

• Gene Symbol: RTCB   Gene   UCSC   Ensembl
• Aliases: C22orf28, DJ149A16.6, FAAP, HSPC117
• Gene name: RNA 2',3'-cyclic phosphate and 5'-OH ligase
• Alternate names: RNA-splicing ligase RtcB homolog, 3'-phosphate/5'-hydroxy nucleic acid ligase, ankyrin repeat domain 54, focal adhesion-associated protein, tRNA-splicing ligase RtcB homolog,
• Gene location: 22q12.3 (32412246: 32387581)     Exons: 12     NC_000022.11
• OMIM: 613901

Protein Summary

• Protein general information: Q9Y3I0  
  • Name: RNA splicing ligase RtcB homolog (EC 6.5.1.8) (3' phosphate/5' hydroxy nucleic acid ligase)
  • Length: 505  
  • Mass: 55210
• Sequence:

  MSRSYNDELQFLEKINKNCWRIKKGFVPNMQVEGVFYVNDALEKLMFEELRNACRGGGVGGFLPAMKQIGNVAAL
  PGIVHRSIGLPDVHSGYGFAIGNMAAFDMNDPEAVVSPGGVGFDINCGVRLLRTNLDESDVQPVKEQLAQAMFDH
  IPVGVGSKGVIPMNAKDLEEALEMGVDWSLREGYAWAEDKEHCEEYGRMLQADPNKVSARAKKRGLPQLGTLGAG
  NHYAEIQVVDEIFNEYAAKKMGIDHKGQVCVMIHSGSRGLGHQVATDALVAMEKAMKRDKIIVNDRQLACARIAS
  PEGQDYLKGMAAAGNYAWVNRSSMTFLTRQAFAKVFNTTPDDLDLHVIYDVSHNIAKVEQHVVDGKERTLLVHRK
  GSTRAFPPHHPLIAVDYQLTGQPVLIGGTMGTCSYVLTGTEQGMTETFGTTCHGAGRALSRAKSRRNLDFQDVLD
  KLADMGIAIRVASPKLVMEEAPESYKNVTDVVNTCHDAGISKKAIKLRPIAVIKG

• Structural information:
  • Interpro: IPR001233  IPR036025  IPR027513  
  • Prosite: PS01288
  • DIP: 46750
  • STRING: ENSP00000216038
• Other Databases: GeneCards:  RTCB  Malacards:  RTCB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000971	tRNA exon ligation utilizing 2',3' cyclic phosphate of 5'-exon as source of linkage phosphate	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003972	RNA ligase (ATP) activity	IBA	molecular function
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IBA	biological process
GO:0072669	tRNA-splicing ligase complex	IBA	cellular component
GO:0072669	tRNA-splicing ligase complex	IDA	cellular component
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IDA	biological process
GO:0003972	RNA ligase (ATP) activity	IDA	molecular function
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IDA	biological process
GO:0072669	tRNA-splicing ligase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003972	RNA ligase (ATP) activity	IMP	molecular function
GO:0003972	RNA ligase (ATP) activity	IEA	molecular function
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IEA	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0008452	RNA ligase activity	IEA	molecular function
GO:0072669	tRNA-splicing ligase complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0001890	placenta development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0072669	tRNA-splicing ligase complex	IEA	cellular component
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IEA	biological process
GO:0016886	ligase activity, forming phosphoric ester bonds	IEA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0017166	vinculin binding	IPI	molecular function

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