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FLASH GENE

Symbol

FGFRL1

contributors: npt/ - updated : 21-09-2007

HGNC name	fibroblast growth factor receptor-like 1
HGNC id	3693

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	4p16.3      Physical location : 1.005.609 - 1.020.685
Synonym name	fibroblast growth factor receptor 5
	FGF homologous factor receptor
	FGFR-like protein
Synonym symbol(s)	FGFR5, FHFR
EC.number	3.2.1.76

DNA

TYPE	functioning gene
STRUCTURE	15.08 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001004356 7 - 3215 NP_001004356 - 504 - Schild (2005) NM_001004358 7 - 3115 NP_001004358 - 504 - Schild (2005) NM_021923 6 - 3105 NP_068742 - 504 - Schild (2005)

EXPRESSION

Type

widely

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 Endocrine adrenal gland       highly   pancreas         Reproductive female system ovary     highly   male system prostate     highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Connective cartilage     highly Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	bone, vertebrae, muscle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	signal peptide
	three extracellular Ig-like domains that were related to the members of the fibroblast growth factor (FGF) receptor family
	a transmembrane segment (TM) and a short intracellular domain

HOMOLOGY

interspecies

homolog to murien FgfrL1

Homologene

FAMILY

fibroblast growth factor receptor family

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	integral membrane protein

basic FUNCTION	modulator of FGF receptor activity during chondrocyte differentiation and enchondral ossication
	acting as a decoy receptor for FGF ligands
	involved in the control of cell proliferation and differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacts with other Fgfrs, which are expressed in cartilage and muscle, to modulate FGF signaling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   aberrant expression might contribute to the development and progression of ovarian tumors

Susceptibility

Variant & Polymorphism

Candidate gene	for facial features in WHS
	candidate gene for the diaphragmatic defects
Marker
Therapy target

ANIMAL & CELL MODELS

Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm (Lopez Jimenez 2010)