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

    Gene ID: 53834, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    See FGFRL1 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1010212..1026898)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1008259..1024943)
    RS_2024_09 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 Balpha

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells. Zhuang L, et al. Biochim Biophys Acta, 2015 Oct. PMID 26025674
    2. FGFRL1 Promotes Ovarian Cancer Progression by Crosstalk with Hedgehog Signaling. Tai H, et al. J Immunol Res, 2018. PMID 29675438, Free PMC Article
    3. 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
    4. An integrated genomic, transcriptional and protein investigation of FGFRL1 as a putative 4p16.3 deletion target in bladder cancer. di Martino E, et al. Genes Chromosomes Cancer, 2013 Sep. PMID 23775577
    5. Biology of FGFRL1, the fifth fibroblast growth factor receptor. Trueb B. Cell Mol Life Sci, 2011 Mar. PMID 21080029, Free PMC Article

    See all (58) 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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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    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_2024_08

    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

      UniProtKB/TrEMBL
      Q6ZMD4

    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 [email protected] 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.

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