FGFRL1 - fibroblast growth factor receptor like 1 Gene

Also Known as FHFR; FGFR5; FGFR-5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 53834

About FGFRL1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,010,212-1,026,898 (from NCBI)

This gene has 7 transcripts (splice variants), 253 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 21.2), fat (RPKM 15.4) and 25 other tissues.

Summary

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]

FGFRL1 Products (4)

mRNA Protein Name
NM_001004356.3 NP_001004356.1 fibroblast growth factor receptor-like 1 precursor
NM_001004358.1 NP_001004358.1 fibroblast growth factor receptor-like 1 precursor
NM_001370296.1 NP_001357225.1 fibroblast growth factor receptor-like 1 precursor
NM_021923.3 NP_068742.2 fibroblast growth factor receptor-like 1 precursor
Molecular Function GO Annotation Evidence References Source
enables fibroblast growth factor receptor activity IDA
IDA: Inferred from direct assay
12813049 GOA
enables heparin binding IDA
IDA: Inferred from direct assay
12813049 GOA
enables heparin binding IMP
IMP: Inferred from mutant phenotype
18061161 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
18061161 GOA
Biological Process GO Annotation Evidence References Source
involved in cell-cell adhesion via plasma-membrane adhesion molecules IMP
IMP: Inferred from mutant phenotype
18061161 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
18061161 GOA
located in cell-cell contact zone IDA
IDA: Inferred from direct assay
18061161 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
12813049 GOA
located in transport vesicle IDA
IDA: Inferred from direct assay
18061161 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FGFRL1 Protein Structure

I-set

I-set: Immunoglobulin I-set domain (35 - 116)

I-set

I-set: Immunoglobulin I-set domain (160 - 238)

I-set

I-set: Immunoglobulin I-set domain (251 - 355)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 504 a.a.
Protein Preferred Names Protein Names

fibroblast growth factor receptor-like 1

  • FGF homologous factor receptor

Recombinant FGFRL1 Proteins

Cat. No. Product Name Accession Purity
HY-P72643 FGFRL1 Protein, Human (HEK293, His) Q8N441 (A25-P378) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Chromosome 4p Deletion
  • 4p Partial Monosomy Syndrome

  • Chromosome 4 Short Arm Deletion

  • 4p Deletion

  • 4p Monosomy

  • Deletion 4p

  • Monosomy 4p

  • Partial Monosomy 4p

  • Wolf-Hirschhorn Syndrome

  • Chromosome 4 Short Arm Deletion Syndrome

  • Deletion Of Short Arm Of Chromosome 4

Familiar Ovarian Carcinoma
Antley-Bixler Syndrome
  • Trapezoidocephaly Synostosis Syndrome

  • Trapezoidocephaly-Synostosis Syndrome

  • Antley Bixler Syndrome

  • Multisynostotic Osteodysgenesis With Long Bone Fractures

  • Osteodysgenesis, Multisynostotic With Fractures

  • Antley-Bixler Syndrome, Autosomal Dominant

  • Antley-Bixler Syndrome Phenotype

Fibrochondrogenesis 1
  • FBCG1

  • Fibrochondrogenesis, Type 1

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

Radioulnar Synostosis
  • Radio-Ulnar Synostosis Type 1

Crouzon Syndrome
  • Crouzon Craniofacial Dysostosis

  • Craniofacial Dysostosis

  • Cfd1

  • Craniofacial Dysostosis Type 1

  • Crouzon Disease

  • Crouzon'S Disease

  • Craniofacial Dysostosis, Type I

  • Craniofacial Dysarthrosis

  • Craniofacial Dysostosis Syndrome

  • CS

  • Craniofacial Dysostosis Type I

  • Vogt Cephalosyndactyly

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Diaphragmatic Hernia, Congenital
  • Congenital Diaphragmatic Hernia

  • Diaphragmatic Hernia

  • Cdh

  • Congenital Diaphragmatic Defect

  • Hernia, Diaphragmatic

  • Dih

  • Hernia, Congenital Diaphragmatic

  • Hcd

  • Diaphragmatic Defect, Congenital

  • Diaphragm, Unilateral Agenesis Of

  • Hemidiaphragm, Agenesis Of

  • Diaphragmatic Hernia 1

  • Agenesis Of Hemidiaphragm

  • Unilateral Agenesis Of Diaphragm

  • Hernia Diaphragmatic

  • Hernia Diaphragmatic Congenital

  • Hernia, Diaphragmatic, Type 1

  • Hiatus Hernia

  • Oesophageal Hiatus Hernia

  • Paraoesophageal Hernia

  • Sliding Hiatus Hernia

  • Congenital Diaphragm Hernia

  • Congenital Diaphragm Defect With Hernia

  • Gross Congenital Diaphragm Defect

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Felis catus FGFRL1 VGNC VGNC:107334
Mus musculus FGFRL1 MGD MGI:2150920
Rattus norvegicus FGFRL1 RGD RGD:735156
Bos taurus FGFRL1 VGNC VGNC:28989
Canis familiaris FGFRL1 VGNC VGNC:40862
Macaca mulatta FGFRL1 VGNC VGNC:72655
Others FGFRL1 NCBI