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

Gene ID: 53834, updated on 22-Aug-2020

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
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

Genomic context

See FGFRL1 in Genome Data Viewer
Location:
4p16.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1009930..1026898)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1004712..1020686)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene diacylglycerol kinase theta Neighboring gene solute carrier family 26 member 1 Neighboring gene alpha-L-iduronidase Neighboring gene uncharacterized LOC105374343 Neighboring gene ring finger protein 212 Neighboring gene protein phosphatase 2 regulatory subunit B, alpha pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
4p partial monosomy syndrome
MedGen: C1956097 OMIM: 194190 GeneReviews: Wolf-Hirschhorn Syndrome
Compare labs
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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_024309861.1

NCBI Reference Sequences (RefSeq)

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_001004356.3NP_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
    Q8N441
    UniProtKB/TrEMBL
    A0PJ49
    Related
    ENSP00000425025.1, ENST00000510644.6
    Conserved Domains (3) summary
    cd05856
    Location:157238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261355
    Ig; Immunoglobulin domain
  2. NM_001004358.1NP_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
    Q8N441
    Conserved Domains (3) summary
    cd05856
    Location:157238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261355
    Ig; Immunoglobulin domain
  3. NM_001370296.1NP_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
    Related
    ENSP00000423091.1, ENST00000504138.5
    Conserved Domains (3) summary
    cd05856
    Location:157238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261355
    Ig; Immunoglobulin domain
  4. NM_021923.3NP_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
    Q8N441
    Related
    ENSP00000264748.6, ENST00000264748.6
    Conserved Domains (3) summary
    cd05856
    Location:157238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261355
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    1009930..1026898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454093.1XP_024309861.1  fibroblast growth factor receptor-like 1 isoform X2

    Related
    ENSP00000381498.2, ENST00000398484.6
    Conserved Domains (3) summary
    cd05856
    Location:157238
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:33116
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:261355
    Ig; Immunoglobulin domain
  2. XM_024454092.1XP_024309860.1  fibroblast growth factor receptor-like 1 isoform X1

    Conserved Domains (3) summary
    cd05856
    Location:180261
    Ig2_FGFRL1-like; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor_like-1(FGFRL1)
    pfam07679
    Location:56139
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:284378
    Ig; Immunoglobulin domain
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