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FLASH GENE

Symbol

FXR1

contributors: mct/npt - updated : 23-06-2015

HGNC name	fragile X mental retardation, autosomal homolog 1
HGNC id	4023

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	64.50 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	with several alternatively spliced isoforms (Kirkpatrick)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001013438 16 - 2682 NP_001013456 - 539 - Darnell (2009) NM_005087 17 - 2774 NP_005078 - 621 - Darnell (2009) NM_001013439 18 - 3118 NP_001013457 - 536 - Darnell (2009)

EXPRESSION

Type

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         Reproductive male system testis

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	brain, testis

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two K homology (KH) domain, and KH2 domains bind kissing complex RNA ligands with the same affinity as the FMR1 KH2 domain although other KH domains do not (Darnell 2009)
	one RGG motif
	a nuclear export signal (NES) and a nuclear targeting signal
	a nuclear localization signals of FXR1 and also FXR2 with tandem Tudor domain architectures, closely resembling that of UHRF1, which is proposed to bind methylated histone H3K9

mono polymer

homomer , heteromer , dimer

HOMOLOGY

intraspecies

homolog to FMR1,FXR2 (see symbols)

Homologene

FAMILY

FMR1 family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus,nucleolus

basic FUNCTION	putative target for the autoimmune response
	plays an important role in normal muscle development, and its absence causes muscular abnormalities in mice
	role of FXR1 that has crucial implications for the understanding of its role during myogenesis and muscle development
	plays an important role in normal muscle development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

homodimerizing and heterodimerizing with FMR1 and FXR2

INTERACTION

DNA

RNA

binding

small molecule

protein	DSP and TLN2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle
	DSP and TLN2 mRNAs associate with FXR1 in a complex
	functional association between LMNA and fragile X-related protein 1 (FXR1)
	10 FXR1-interacting proteins including Bcl-2-associated transcription factor 1 (BCLAF1)
	binding of PKP1/3 to FXR1 was RNA independent, and both PKP3 and FXR1 stabilized PKP2 mRNA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   altered expression in FSHMD1A myoblasts may contribute to the physiopathology of this disease (Davidovic 2008)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS