• Gene id: 55094

Gene Summary

• Gene Symbol: GPATCH1   Gene   UCSC   Ensembl
• Aliases: ECGP, GPATC1
• Gene name: G-patch domain containing 1
• Alternate names: G patch domain-containing protein 1, evolutionarily conserved G patch domain containing, evolutionarily conserved G-patch domain-containing protein,
• Gene location: 19q13.11 (33080879: 33130541)     Exons: 21     NC_000019.10
• OMIM: 616426

Protein Summary

• Protein general information: Q9BRR8  
  • Name: G patch domain containing protein 1 (Evolutionarily conserved G patch domain containing protein)
  • Length: 931  
  • Mass: 103345
• Sequence:

  MAARDSDSEEDLVSYGTGLEPLEEGERPKKPIPLQDQTVRDEKGRYKRFHGAFSGGFSAGYFNTVGSKEGWTPST
  FVSSRQNRADKSVLGPEDFMDEEDLSEFGIAPKAIVTTDDFASKTKDRIREKARQLAAATAPIPGATLLDDLITP
  AKLSVGFELLRKMGWKEGQGVGPRVKRRPRRQKPDPGVKIYGCALPPGSSEGSEGEDDDYLPDNVTFAPKDVTPV
  DFTPKDNVHGLAYKGLDPHQALFGTSGEHFNLFSGGSERAGDLGEIGLNKGRKLGISGQAFGVGALEEEDDDIYA
  TETLSKYDTVLKDEEPGDGLYGWTAPRQYKNQKESEKDLRYVGKILDGFSLASKPLSSKKIYPPPELPRDYRPVH
  YFRPMVAATSENSHLLQVLSESAGKATPDPGTHSKHQLNASKRAELLGETPIQGSATSVLEFLSQKDKERIKEMK
  QATDLKAAQLKARSLAQNAQSSRAQLSPAAAAGHCSWNMALGGGTATLKASNFKPFAKDPEKQKRYDEFLVHMKQ
  GQKDALERCLDPSMTEWERGRERDEFARAALLYASSHSTLSSRFTHAKEEDDSDQVEVPRDQENDVGDKQSAVKM
  KMFGKLTRDTFEWHPDKLLCKRFNVPDPYPDSTLVGLPRVKRDKYSVFNFLTLPETASLPTTQASSEKVSQHRGP
  DKSRKPSRWDTSKHEKKEDSISEFLSLARSKAEPPKQQSSPLVNKEEEHAPELSANQTVNKDVDAQAEGEGSRPS
  MDLFRAIFASSSDEKSSSSEDEQGDSEDDQAGSGEANFQSSQDTDLGETSSVAHALVPAPQEPPPSFPIQKMQID
  EREEFGPRLPPVFCPNARQTLEVPQKEKHKKNKDKHKAKKEHRRKKEKKKKHRKHKHKGKQKNKKPEKSSSSESS
  DSSDSQSDEETADVSPQELLRRLKSLPLRRQ

• Structural information:
  • Protein Domains: (152..19-)
    (/note="G-patch-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00092"-)
  • Interpro: IPR011666  IPR000467  IPR040058  
  • Prosite: PS50174
  • STRING: ENSP00000170564
• Other Databases: GeneCards:  GPATCH1  Malacards:  GPATCH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R