• Gene id: 23732

Gene Summary

• Gene Symbol: FRRS1L   Gene   UCSC   Ensembl
• Aliases: C9orf4, CG-6, CG6, EIEE37
• Gene name: ferric chelate reductase 1 like
• Alternate names: DOMON domain-containing protein FRRS1L, brain protein CG-6,
• Gene location: 9q31.3 (109167248: 109130292)     Exons: 7     NC_000009.12
• Gene summary(Entrez): This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in
• OMIM: 616348

Protein Summary

• Protein general information: Q9P0K9  
  • Name: DOMON domain containing protein FRRS1L (Brain protein CG 6) (Ferric chelate reductase 1 like protein)
  • Length: 344  
  • Mass: 37270
  • Tissue specificity: Expressed in adult and fetal brain. Very weak expression in medulla, spinal cord and in adult ovary. {ECO
• Sequence:

  MRRPRQGGGGAGGSAAARARAGGLGGGSVPARARGAPAAARAAWLRDLCARMARPPRQHPGVWASLLLLLLTGPA
  ACAASPADDGAGPGGRGPRGRARGDTGADEAVPRHDSSYGTFAGEFYDLRYLSEEGYPFPTAPPVDPFAKIKVDD
  CGKTKGCFRYGKPGCNAETCDYFLSYRMIGADVEFELSADTDGWVAVGFSSDKKMGGDDVMACVHDDNGRVRIQH
  FYNVGQWAKEIQRNPARDEEGVFENNRVTCRFKRPVNVPRDETIVDLHLSWYYLFAWGPAIQGSITRHDIDSPPA
  SERVVSIYKYEDIFMPSAAYQTFSSPFCLLLIVALTFYLLMGTP

• Structural information:
  • Protein Domains: (170..28-)
    (/note="DOMON-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00246"-)
  • Interpro: IPR005018  IPR042789  
  • Prosite: PS50836
  • STRING: ENSP00000477141
• Other Databases: GeneCards:  FRRS1L  Malacards:  FRRS1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IBA	biological process
GO:1900449	regulation of glutamate receptor signaling pathway	IBA	biological process
GO:1900449	regulation of glutamate receptor signaling pathway	IMP	biological process
GO:1900449	regulation of glutamate receptor signaling pathway	IEA	biological process
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:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R