1. Gene
  2. FRRS1L - ferric chelate reductase 1 like Gene

FRRS1L - ferric chelate reductase 1 like Gene

中文名称:铁螯合还原酶 1

种属: Homo sapiens

同用名: CG6; CG-6; DEE37; C9orf4; EIEE37

基因 ID: 23732 | 基因类型: protein coding

关于 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.

功能概要

该基因编码大脑中 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) 受体蛋白外核的一个成分。编码的蛋白质被认为与受体的内核成分相互作用,并在调节谷氨酸信号传导中发挥作用。该基因的突变与早期婴儿癫痫性脑病 37 有关。[RefSeq 提供,2016 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_014334.4 NP_055149.3 DOMON domain-containing protein FRRS1L precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of glutamate receptor signaling pathway IMP
IMP: 通过突变表型推断
27236917 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FRRS1L 蛋白结构

DOMON

DOMON: DOMON domain (169 - 283)

  • 0
  • 100
  • 200
  • 300
  • 344 a.a.
蛋白主名 其他名称

DOMON domain-containing protein FRRS1L

brain protein CG-6

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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