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Aliases for FGFRL1 Gene

Aliases for FGFRL1 Gene

  • Fibroblast Growth Factor Receptor-Like 1 2 3 5
  • Fibroblast Growth Factor Receptor 5 3 4
  • FGF Homologous Factor Receptor 3 4
  • FGF Receptor-Like Protein 1 3 4
  • FGFR-Like Protein 3 4
  • FGFR-5 3 4
  • FGFR5 3 4
  • FHFR 3 4

External Ids for FGFRL1 Gene

Previous GeneCards Identifiers for FGFRL1 Gene

  • GC04M001066
  • GC04P000994
  • GC04P000996

Summaries for FGFRL1 Gene

Entrez Gene Summary for FGFRL1 Gene

  • The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for FGFRL1 Gene

FGFRL1 (Fibroblast Growth Factor Receptor-Like 1) is a Protein Coding gene. Diseases associated with FGFRL1 include wolf-hirschhorn syndrome. Among its related pathways are Signaling by GPCR and Akt Signaling Pathway. GO annotations related to this gene include heparin binding and fibroblast growth factor-activated receptor activity.

UniProtKB/Swiss-Prot for FGFRL1 Gene

  • Has a negative effect on cell proliferation.

Gene Wiki entry for FGFRL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGFRL1 Gene

Genomics for FGFRL1 Gene

Regulatory Elements for FGFRL1 Gene

Promoters for FGFRL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FGFRL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FGFRL1 Gene

Chromosome:
4
Start:
1,009,936 bp from pter
End:
1,026,898 bp from pter
Size:
16,963 bases
Orientation:
Plus strand

Genomic View for FGFRL1 Gene

Genes around FGFRL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGFRL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGFRL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGFRL1 Gene

Proteins for FGFRL1 Gene

  • Protein details for FGFRL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N441-FGRL1_HUMAN
    Recommended name:
    Fibroblast growth factor receptor-like 1
    Protein Accession:
    Q8N441
    Secondary Accessions:
    • B2RAU9
    • Q6PJN1
    • Q9BXN7
    • Q9H4D7

    Protein attributes for FGFRL1 Gene

    Size:
    504 amino acids
    Molecular mass:
    54537 Da
    Quaternary structure:
    • Interacts with FGF2 with a low affinity.

neXtProt entry for FGFRL1 Gene

Proteomics data for FGFRL1 Gene at MOPED

Post-translational modifications for FGFRL1 Gene

  • Glycosylation at Asn 111, Asn 231, Asn 255, and Asn 293
  • Modification sites at PhosphoSitePlus

Other Protein References for FGFRL1 Gene

Antibody Products

  • R&D Systems Antibodies for FGFRL1 (FGF R5/FGFRL1)

No data available for DME Specific Peptides for FGFRL1 Gene

Domains & Families for FGFRL1 Gene

Gene Families for FGFRL1 Gene

Protein Domains for FGFRL1 Gene

Suggested Antigen Peptide Sequences for FGFRL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N441

UniProtKB/Swiss-Prot:

FGRL1_HUMAN :
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
Domain:
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
genes like me logo Genes that share domains with FGFRL1: view

Function for FGFRL1 Gene

Molecular function for FGFRL1 Gene

UniProtKB/Swiss-Prot Function:
Has a negative effect on cell proliferation.

Gene Ontology (GO) - Molecular Function for FGFRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with FGFRL1: view
genes like me logo Genes that share phenotypes with FGFRL1: view

Animal Models for FGFRL1 Gene

MGI Knock Outs for FGFRL1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FGFRL1 Gene

Localization for FGFRL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGFRL1 Gene

Membrane; Single-pass type I membrane protein. Note=Predominantly localized in the plasma membrane but also detected in the Golgi and in secretory vesicles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FGFRL1 Gene COMPARTMENTS Subcellular localization image for FGFRL1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
endoplasmic reticulum 2
extracellular 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for FGFRL1 Gene

Pathways & Interactions for FGFRL1 Gene

genes like me logo Genes that share pathways with FGFRL1: view

Pathways by source for FGFRL1 Gene

1 PharmGKB pathway for FGFRL1 Gene

Gene Ontology (GO) - Biological Process for FGFRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003179 heart valve morphogenesis IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0051291 NOT protein heterooligomerization IGI 18061161
genes like me logo Genes that share ontologies with FGFRL1: view

No data available for SIGNOR curated interactions for FGFRL1 Gene

Drugs & Compounds for FGFRL1 Gene

(2) Drugs for FGFRL1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
LY2874455 Pharma FGF/FGFR Inhibitor 0
genes like me logo Genes that share compounds with FGFRL1: view

Transcripts for FGFRL1 Gene

Unigene Clusters for FGFRL1 Gene

Fibroblast growth factor receptor-like 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGFRL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - - - -
SP2: - - -
SP3:
SP4: -
SP5: -

Relevant External Links for FGFRL1 Gene

GeneLoc Exon Structure for
FGFRL1
ECgene alternative splicing isoforms for
FGFRL1

Expression for FGFRL1 Gene

mRNA expression in normal human tissues for FGFRL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGFRL1 Gene



SOURCE GeneReport for Unigene cluster for FGFRL1 Gene Hs.193326

mRNA Expression by UniProt/SwissProt for FGFRL1 Gene

Q8N441-FGRL1_HUMAN
Tissue specificity: Expressed preferentially in cartilaginous tissues and pancreas. Highly expressed in the liver, kidney, heart, brain and skeletal muscle. Weakly expressed in the lung, small intestine and spleen.
genes like me logo Genes that share expression patterns with FGFRL1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for FGFRL1 Gene

Orthologs for FGFRL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGFRL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FGFRL1 35
  • 88.37 (n)
  • 91.49 (a)
FGFRL1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGFRL1 36
  • 85 (a)
OneToOne
LOC102151155 35
  • 88.26 (n)
  • 89.66 (a)
mouse
(Mus musculus)
Mammalia Fgfrl1 16
Fgfrl1 36
  • 82 (a)
OneToOne
Fgfrl1 35
  • 85.52 (n)
  • 90.95 (a)
oppossum
(Monodelphis domestica)
Mammalia FGFRL1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGFRL1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgfrl1 35
  • 85.44 (n)
  • 91.18 (a)
chicken
(Gallus gallus)
Aves FGFRL1 36
  • 72 (a)
OneToOne
FGFRL1 35
  • 72.56 (n)
  • 74.45 (a)
lizard
(Anolis carolinensis)
Reptilia FGFRL1 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.17937 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fgfrl1 35
  • 67.62 (n)
  • 72.09 (a)
zebrafish
(Danio rerio)
Actinopterygii fgfrl1a 36
  • 67 (a)
OneToOne
fgfrl1a 35
  • 69.46 (n)
  • 70.7 (a)
zgc64084 35
fruit fly
(Drosophila melanogaster)
Insecta CG31431 36
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea igcm-4 35
  • 41.37 (n)
  • 33.15 (a)
igcm-4 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToOne
Species with no ortholog for FGFRL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FGFRL1 Gene

ENSEMBL:
Gene Tree for FGFRL1 (if available)
TreeFam:
Gene Tree for FGFRL1 (if available)

Paralogs for FGFRL1 Gene

(6) SIMAP similar genes for FGFRL1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FGFRL1: view

No data available for Paralogs for FGFRL1 Gene

Variants for FGFRL1 Gene

Sequence variations from dbSNP and Humsavar for FGFRL1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs4647930 - 1,024,917(+) ACCGC(A/C)AGGGC reference, missense
rs4647932 - 1,025,223(+) AGGCC(A/C/T)AGTTG reference, missense
rs748650 -- 1,017,296(+) AGGAC(A/G)CTCTT intron-variant
rs748651 -- 1,017,327(+) GAACT(A/C/T)GGGTA intron-variant
rs1064838 -- 1,025,884(+) ACACG(C/T)GTGCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FGFRL1 Gene

Variant ID Type Subtype PubMed ID
nsv822425 CNV Loss 20364138
dgv5390n71 CNV Loss 21882294
dgv5391n71 CNV Loss 21882294
nsv469998 CNV Loss 18288195
dgv5395n71 CNV Loss 21882294
dgv5396n71 CNV Loss 21882294
dgv5397n71 CNV Loss 21882294
nsv878292 CNV Loss 21882294
nsv822428 CNV Gain 20364138
nsv878310 CNV Loss 21882294
dgv5398n71 CNV Loss 21882294
nsv878315 CNV Loss 21882294
dgv5399n71 CNV Loss 21882294
nsv878317 CNV Loss 21882294
dgv5400n71 CNV Loss 21882294
esv28049 CNV Loss 19812545
nsv878323 CNV Gain 21882294
nsv878324 CNV Gain 21882294
nsv878325 CNV Loss 21882294
nsv878326 CNV Loss 21882294

Variation tolerance for FGFRL1 Gene

Residual Variation Intolerance Score: 57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.40; 81.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGFRL1 Gene

HapMap Linkage Disequilibrium report
FGFRL1
Human Gene Mutation Database (HGMD)
FGFRL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGFRL1 Gene

Disorders for FGFRL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FGFRL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolf-hirschhorn syndrome
  • 4p deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FGFRL1

Genetic Association Database (GAD)
FGFRL1
Human Genome Epidemiology (HuGE) Navigator
FGFRL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGFRL1
genes like me logo Genes that share disorders with FGFRL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FGFRL1 Gene

Publications for FGFRL1 Gene

  1. A novel fibroblast growth factor receptor-5 preferentially expressed in the pancreas. (PMID: 11267671) Kim I. … Koh G.Y. (Biochim. Biophys. Acta 2001) 3 4 23 67
  2. Characterization of the first FGFRL1 mutation identified in a craniosynostosis patient. (PMID: 19056490) Rieckmann T. … Trueb B. (Biochim. Biophys. Acta 2009) 3 23
  3. Characterization of FGFRL1, a novel fibroblast growth factor (FGF) receptor preferentially expressed in skeletal tissues. (PMID: 12813049) Trueb B. … Wiedemann M. (J. Biol. Chem. 2003) 3 23
  4. Identification of a new fibroblast growth factor receptor, FGFR5. (PMID: 11418238) Sleeman M. … Murison J.G. (Gene 2001) 3 23
  5. Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. (PMID: 24249740) Zhang L. … Deng H.W. (Hum. Mol. Genet. 2014) 3

Products for FGFRL1 Gene

Sources for FGFRL1 Gene

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