• Gene id: 146395

Gene Summary

• Gene Symbol: GSG1L   Gene   UCSC   Ensembl
• Aliases: PRO19651
• Gene name: GSG1 like
• Alternate names: germ cell-specific gene 1-like protein, GSG1-like protein, KTSR5831,
• Gene location: 16p12.1 (37643447: 37609738)     Exons: 16     NC_000017.11
• OMIM: 617161

Protein Summary

• Protein general information: Q6UXU4  
  • Name: Germ cell specific gene 1 like protein (GSG1 like protein)
  • Length: 331  
  • Mass: 36774
• Sequence:

  MKTSRRGRALLAVALNLLALLFATTAFLTTHWCQGTQRVPKPGCGQGGRANCPNSGANATANGTAAPAAAAAAAT
  ASGNGPPGGALYSWETGDDRFLFRNFHTGIWYSCEEELSGLGEKCRSFIDLAPASEKGVLWLSVVSEVLYILLLV
  VGFSLMCLELFHSSNVIDGLKLNAFAAVFTVLSGLLGMVAHMMYTQVFQVTVSLGPEDWRPHSWDYGWSFCLAWG
  SFTCCMAASVTTLNSYTKTVIEFRHKRKVFEQGYREEPTFIDPEAIKYFRERMEKRDGSEEDFHLDCRHERYPAR
  HQPHMADSWPRSSAQEAPELNRQCWVLGHWV

• Structural information:
  • Interpro: IPR012478  
  • STRING: ENSP00000394954
• Other Databases: GeneCards:  GSG1L  Malacards:  GSG1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000311	regulation of AMPA receptor activity	IBA	biological process
GO:0099061	integral component of postsynaptic density membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032279	asymmetric synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq