U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FGFRL1 fibroblast growth factor receptor like 1 [ Homo sapiens (human) ]

Gene ID: 53834, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
FGFRL1provided by HGNC
Official Full Name
fibroblast growth factor receptor like 1provided by HGNC
Primary source
HGNC:HGNC:3693
See related
Ensembl:ENSG00000127418 MIM:605830; AllianceGenome:HGNC:3693
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHFR; FGFR5; FGFR-5
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]
Expression
Ubiquitous expression in thyroid (RPKM 21.2), fat (RPKM 15.4) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See FGFRL1 in Genome Data Viewer
Location:
4p16.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1010212..1026898)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1008259..1024943)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1005414..1020686)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:973450-974030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21142 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:981121-981298 Neighboring gene solute carrier family 26 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:983059-983560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:983561-984060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:986529-987340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:987341-988152 Neighboring gene uncharacterized LOC124900646 Neighboring gene alpha-L-iduronidase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:997000-997557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1003737-1004369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1007938-1008741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1008742-1009544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1011927-1012796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1019533-1020034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1020035-1020534 Neighboring gene uncharacterized LOC105374343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1030079-1030899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1032665-1033598 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1035128-1035326 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1035707-1035888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1046553-1047422 Neighboring gene ring finger protein 212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1085059-1086038 Neighboring gene protein phosphatase 2 regulatory subunit B, alpha pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. FGFRL1 and FGF genes are associated with height, hypertension, and osteoporosis. Cho HW, et al. PLoS One, 2022. PMID 35980984, Free PMC Article
  2. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Gofin Y, et al. Am J Med Genet A, 2021 Mar. PMID 33443296, Free PMC Article
  3. [Expression of fibroblast growth factor receptor like 1 protein in oral squamous cell carcinoma and its influence on tumor cell proliferation and migration]. Zheng C, et al. Hua Xi Kou Qiang Yi Xue Za Zhi, 2020 Oct 1. PMID 33085242, Free PMC Article
  4. Fibroblast growth factor receptor-like-1: a new therapeutic target and unfavorable prognostic indicator for rectal adenocarcinoma. Jia RZ, et al. J Recept Signal Transduct Res, 2020 Jun. PMID 32098557
  5. FGFRL1 Promotes Ovarian Cancer Progression by Crosstalk with Hedgehog Signaling. Tai H, et al. J Immunol Res, 2018. PMID 29675438, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Downregulation of miR-210-3p Attenuates High Glucose-Induced Angiogenesis of Vascular Endothelial Cells via Targeting FGFRL1.
    Title: Downregulation of miR-210-3p Attenuates High Glucose-Induced Angiogenesis of Vascular Endothelial Cells via Targeting FGFRL1.
  2. Aberrant Expression of FGFRL1 in Esophageal Cancer and Its Regulation by miR-107.
    Title: Aberrant Expression of FGFRL1 in Esophageal Cancer and Its Regulation by miR-107.
  3. FGFRL1 and FGF genes are associated with height, hypertension, and osteoporosis.
    Title: FGFRL1 and FGF genes are associated with height, hypertension, and osteoporosis.
  4. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
    Title: Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
  5. Dissecting the Interaction of FGF8 with Receptor FGFRL1.
    Title: Dissecting the Interaction of FGF8 with Receptor FGFRL1.
  6. Lung CSC-derived exosomal miR-210-3p contributes to a pro-metastatic phenotype in lung cancer by targeting FGFRL1.
    Title: Lung CSC-derived exosomal miR-210-3p contributes to a pro-metastatic phenotype in lung cancer by targeting FGFRL1.
  7. FGFRL1 affects chemoresistance of small-cell lung cancer by modulating the PI3K/Akt pathway via ENO1.
    Title: FGFRL1 affects chemoresistance of small-cell lung cancer by modulating the PI3K/Akt pathway via ENO1.
  8. Fibroblast growth factor receptor-like-1: a new therapeutic target and unfavorable prognostic indicator for rectal adenocarcinoma.
    Title: Fibroblast growth factor receptor-like-1: a new therapeutic target and unfavorable prognostic indicator for rectal adenocarcinoma.
  9. [Expression of fibroblast growth factor receptor like 1 protein in oral squamous cell carcinoma and its influence on tumor cell proliferation and migration].
    Title: [Expression of fibroblast growth factor receptor like 1 protein in oral squamous cell carcinoma and its influence on tumor cell proliferation and migration].
  10. this study shows FGFRL1 promotes ovarian cancer progression by crosstalk with Hedgehog signaling
    Title: FGFRL1 Promotes Ovarian Cancer Progression by Crosstalk with Hedgehog Signaling.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
4p partial monosomy syndrome
MedGen: C1956097 OMIM: 194190 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2013-08-01)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2013-08-01)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables fibroblast growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fibroblast growth factor receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fibroblast growth factor receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heparin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables heparin binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in diaphragm development IEA
Inferred from Electronic Annotation
more info
  
involved_in fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in heart valve morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal system development IEA
Inferred from Electronic Annotation
more info
  
involved_in ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell-cell contact zone IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in transport vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
fibroblast growth factor receptor-like 1
Names
FGF homologous factor receptor
FGF receptor-like protein 1
FGFR-like protein
fibroblast growth factor receptor 5
NP_001004356.1
NP_001004358.1
NP_001357225.1
NP_068742.2
XP_024309860.1
XP_054206170.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001004356.3 → NP_001004356.1  fibroblast growth factor receptor-like 1 precursor

    See identical proteins and their annotated locations for NP_001004356.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AC019103, AY358303, BC015228, BQ689625
    Consensus CDS
    CCDS3344.1
    UniProtKB/Swiss-Prot
    B2RAU9, Q6PJN1, Q8N441, Q9BXN7, Q9H4D7
    UniProtKB/TrEMBL
    Q6ZMD4
    Related
    ENSP00000425025.1, ENST00000510644.6
    Conserved Domains (3) summary
    cd05856
    Location:157 → 238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33 → 116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261 → 355
    Ig; Immunoglobulin domain

  2. NM_001004358.1 → NP_001004358.1  fibroblast growth factor receptor-like 1 precursor

    See identical proteins and their annotated locations for NP_001004358.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR, and encodes the same isoform, as compared to variant 1.
    Source sequence(s)
    AF279689, BC013955, BC036769
    Consensus CDS
    CCDS3344.1
    UniProtKB/Swiss-Prot
    B2RAU9, Q6PJN1, Q8N441, Q9BXN7, Q9H4D7
    UniProtKB/TrEMBL
    Q6ZMD4
    Conserved Domains (3) summary
    cd05856
    Location:157 → 238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33 → 116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261 → 355
    Ig; Immunoglobulin domain

  3. NM_001370296.1 → NP_001357225.1  fibroblast growth factor receptor-like 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate 5' UTR, and encodes the same isoform, as compared to variant 1.
    Source sequence(s)
    AC019103
    Consensus CDS
    CCDS3344.1
    UniProtKB/Swiss-Prot
    B2RAU9, Q6PJN1, Q8N441, Q9BXN7, Q9H4D7
    UniProtKB/TrEMBL
    Q6ZMD4
    Related
    ENSP00000423091.1, ENST00000504138.5
    Conserved Domains (3) summary
    cd05856
    Location:157 → 238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33 → 116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261 → 355
    Ig; Immunoglobulin domain

  4. NM_021923.3 → NP_068742.2  fibroblast growth factor receptor-like 1 precursor

    See identical proteins and their annotated locations for NP_068742.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR, and encodes the same isoform, as compared to variant 1.
    Source sequence(s)
    AJ277437, BC013955, BC036769
    Consensus CDS
    CCDS3344.1
    UniProtKB/Swiss-Prot
    B2RAU9, Q6PJN1, Q8N441, Q9BXN7, Q9H4D7
    UniProtKB/TrEMBL
    Q6ZMD4
    Related
    ENSP00000264748.6, ENST00000264748.6
    Conserved Domains (3) summary
    cd05856
    Location:157 → 238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33 → 116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261 → 355
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    1010212..1026898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454092.2 → XP_024309860.1  fibroblast growth factor receptor-like 1 isoform X1

    UniProtKB/TrEMBL
    Q6ZMD4
    Conserved Domains (3) summary
    cd05856
    Location:180 → 261
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:56 → 139
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:284 → 378
    Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    1008259..1024943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350195.1 → XP_054206170.1  fibroblast growth factor receptor-like 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017862.1: Suppressed sequence

    Description
    NM_017862.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N441.1 GenPept UniProtKB/Swiss-Prot:Q8N441

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous