FRRS1L - ferric chelate reductase 1 like Gene

Also Known as CG6; CG-6; DEE37; C9orf4; EIEE37

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23732

About FRRS1L

Cytogenetic location: 9q31.3 Genomic coordinates (GRCh38): 9:109,130,293-109,167,249 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 11.1), ovary (RPKM 3.9) and 4 other tissues.

Summary

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 the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]

FRRS1L Products (1)

mRNA Protein Name
NM_014334.4 NP_055149.3 DOMON domain-containing protein FRRS1L precursor
Biological Process GO Annotation Evidence References Source
involved in regulation of glutamate receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
27236917 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FRRS1L Protein Structure

DOMON

DOMON: DOMON domain (169 - 283)

  • 0
  • 100
  • 200
  • 300
  • 344 a.a.
Protein Preferred Names Protein Names

DOMON domain-containing protein FRRS1L

  • brain protein CG-6

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 37
  • DEE37

  • Epileptic Encephalopathy, Early Infantile, 37

  • Eiee37

  • Developmental And Epileptic Encephalopathy, 37

  • Early Infantile Epileptic Encephalopathy 37

  • Encephalopathy, Epileptic, Early Infantile, Type 37

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Autosomal Recessive Non-Syndromic Intellectual Disability
  • Ar-Nsid

  • Ns-Arid

Continuous Spike-Wave During Slow Sleep Syndrome
  • Csws

  • Cswss Syndrome

  • Continuous Spikes And Waves During Sleep

  • Continuous Spikes And Waves During Slow-Wave Sleep

  • Epileptic Encephalopathy With Continuous Spike-And-Wave During Slow Sleep

  • Continuous Spike And Waves During Slow Sleep

  • Continuous Spike And Waves During Slow-Wave Sleep Syndrome

Encephalopathy
  • Brain Diseases

  • Encephalopathies

  • Toxic Encephalopathy

  • Toxic Brain Fever

  • Toxic Brain Inflammation

  • Toxic Brain Stem Inflammation

  • Toxic Cerebral Fever

  • Toxic Cerebrospinal Fever

  • Toxic Cerebrospinal Inflammation

  • Encephalopathy Nec

  • Encephalopathy Nos

  • Encephalopathy Disease

  • Encephalopathy Syndrome

Chronic Inflammatory Demyelinating Polyneuritis
  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Dysautonomia
Epilepsy, Idiopathic Generalized 14
  • EIG14

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 14

  • Idiopathic Generalized Epilepsy 14

  • {Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

Huntington Disease-Like 1
  • HDL1

  • Huntington-Like Neurodegenerative Disorder 1

  • Hln1

  • Huntington'S Disease-Like 1

  • Early-Onset Prion Disease With Prominent Psychiatric Features

  • Huntington-Like Neurodegenerative Disorder, Autosomal Dominant

  • Prion Disease, Early-Onset, With Prominent Psychiatric Features

  • Autosomal Dominant Huntington-Like Neurodegenerative Disorder

  • Huntington Disease-Like, Type 1

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Japanese Spotted Fever
  • Oriental Spotted Fever

  • Rickettsia Japonica Spotted Fever

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Zellweger Syndrome
  • Cerebrohepatorenal Syndrome

  • Zellweger Leukodystrophy

  • Zs

  • Congenital Iron Overload

  • Chr

  • Zws

  • Severe Pbd-Zsd

  • Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FRRS1L RGD RGD:1309978
Macaca mulatta FRRS1L VGNC VGNC:72717
Felis catus FRRS1L VGNC VGNC:62368
Bos taurus FRRS1L VGNC VGNC:29119
Canis familiaris FRRS1L VGNC VGNC:49676
Mus musculus FRRS1L MGD MGI:2442704
Others FRRS1L NCBI