1. Gene
  2. FGFRL1 - fibroblast growth factor receptor like 1 Gene

FGFRL1 - fibroblast growth factor receptor like 1 Gene

Homo sapiens

Also known as FHFR; FGFR5; FGFR-5

Gene ID: 53834 | Gene type: protein coding

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

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
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  • 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-P71950 FGFRL1 Protein, Human (HEK 293, His) Q8N441 (A25-P378) ≥95%
HY-P72643 FGFRL1 Protein, Human (HEK293, His) Q8N441 (A25-P378) ≥95%

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