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FLASH GENE

Symbol

FRRS1L

contributors: mct - updated : 05-07-2016

HGNC name	ferric chelate reductase 1 like
HGNC id	1362

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE37 epileptic encephalopathy, early infantile, 37
Location	9q31.3      Physical location : -
Synonym name	brain protein CG-6
	hypothetical protein LOC23732
	chromosome 9 open reading frame 4
	DOMON domain-containing protein FRRS1L
Synonym symbol(s)	CG6, C9orf4, CG-6, EIEE37

DNA

TYPE	functioning gene
STRUCTURE	31.10 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

in the familial dysautonomia candidate region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014334 5 - 1189 NP_055149 - 344 - -

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain forebrain cerebral cortex   predominantly Homo sapiens   brain basal nuclei striatum     Homo sapiens   brain diencephalon thalamus     Homo sapiens   spinal cord

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cells

System Cell Pubmed Species Stage Rna symbol not specific fibroblast Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two potential transmembrane segments (TM2)
	one N terminal
	the other C terminal
	a cell attachment sequence
	one tyrosilation
	four potential kinase C phosphorylation sites

conjugated

PhosphoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

plasma membrane,junction

basic FUNCTION	dopamine-beta monooxygenase activity
	might play a role in neuronal maturation, given that AMPARs promote the formation and maturation of synapses during development
	AMPA receptor outer-core protein
	is an important modulator of glutamate signaling with substantial implications in health and disease

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	brain development

PATHWAY

metabolism

signaling

a component

important component of the outer core of AMPAR accessory proteins

INTERACTION

DNA

RNA

small molecule

protein

direct interaction between GRIA1, AND FRRS1L

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE37

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS