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

Summary

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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
FGFRL1 and FGF genes are associated with height, hypertension, and osteoporosis.
Title: FGFRL1 and FGF genes are associated with height, hypertension, and osteoporosis.
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
Title: Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
Dissecting the Interaction of FGF8 with Receptor FGFRL1.
Title: Dissecting the Interaction of FGF8 with Receptor FGFRL1.
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.
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.
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.
[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].
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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W85782 (e-PCR)
- UniSTS:79858

SHGC-67280 (e-PCR)
- UniSTS:83189

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

EC 3.2.1.76

NP_001004358.1

EC 3.2.1.76

NP_001357225.1

EC 3.2.1.76

NP_068742.2

EC 3.2.1.76

XP_024309860.1

EC 3.2.1.76

XP_054206170.1

EC 3.2.1.76

NCBI Reference Sequences (RefSeq)

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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)

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
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
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
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

1010212..1026898

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060928.1 Alternate T2T-CHM13v2.0

Range

1008259..1024943

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NM_017862.1: Suppressed sequence

Description

NM_017862.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.