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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FGFR1 Gene

protein-coding GIFtS: 79
GCID: GC08M038268

fibroblast growth factor receptor 1

(Previous name: fms-related tyrosine kinase 2 )
(Previous symbols: FLT2, KAL2)

Explore 156 diseases affiliated with
FGFR1 via

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fibroblast Growth Factor Receptor 1¹ ²		HBGFR² ³
FLT2¹ ² ³ ⁵		BFGF-R-1¹
BFGFR¹ ² ³		EC 2.7.10.1³ ⁸
CEK¹ ² ³		OGD² ⁵
FLG¹ ² ³		H2¹
KAL2¹ ² ⁵		H3¹
CD331¹ ²		H4¹
N-SAM¹ ²		H5¹
Fms-Related Tyrosine Kinase 2¹ ²		HH2²
Basic Fibroblast Growth Factor Receptor 1² ³		FGFR1/PLAG1 Fusion²
Fms-Like Tyrosine Kinase 2² ³		Heparin-Binding Growth Factor Receptor²
Proto-Oncogene C-Fgr² ³		Hydroxyaryl-Protein Kinase²
FGFBR² ³		N-Sam¹
FGFR-1² ³		CD331 Antigen³
FLT-2² ³		EC 2.7.10⁸

External Ids:	HGNC: 3688¹	Entrez Gene: 2260²	Ensembl: ENSG00000077782⁷	OMIM: 136350⁵	UniProtKB: P11362³

Export aliases for FGFR1 gene to outside databases

Previous GC identifers: GC08M037810 GC08M038400 GC08M038011 GC08M038287 GC08M038389 GC08M036802

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FGFR1:

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 consists 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. This

particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction.

Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome,

osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are

associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced

variants which encode different protein isoforms have been described; however, not all variants have been fully

characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FGFR1_HUMAN, P11362

Function: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an

essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required

for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and

normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and

SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production

of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers

recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase

signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2.

In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1

signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation

summary for FGFR1:

Fibroblast growth factors (FGFs) (FGF1 - 10 and 16 - 23) are mitogenic signaling molecules that have roles

in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGFs bind

heparan sulfate glycosaminoglycans (HSGAGs), which facilitates dimerization (activation) of FGF receptors

(FGFRs). FGFRs are transmembrane catalytic receptors that have intracellular tyrosine kinase activity. There

are four human genes encoding FGFRs, which produce seven different receptors (FGFR1b, FGFR1c, FGFR2b,

FGFR2c, FGFR3b, FGFR3c and FGFR4) due to alternative splicing events occurring both in the extracellular and

intracellular regions. The alternative splice isoforms are generally tissue specific: the b isoform is

expressed in epithelial tissue, whereas the c isoform is expressed in mesenchymal tissue. HSGAG-FGF-FGFR

binding initiates FGFR dimerization, enabling the cytoplasmic kinase domains to transphosphorylate tyrosine

residues and become activated. HSGAGs also function to stabilize FGF-FGFR binding and prevent FGF

degradation. FGFRs couple to the PLCgamma, MAPK and PI3-K/Akt intracellular signaling cascades and there is

evidence of cross talk with the Notch signaling pathway. In addition, some activated FGF-FGFR complexes are

endocytosed and function directly in the cytosol and/or nucleus of the cell. Mutations in FGFR genes are the

cause of several human developmental disorders characterized by skeletal abnormalities such as

achondroplasia, and upregulation of FGFR expression may lead to cell transformation and cancer.

Gene Wiki entry for FGFR1 (Fibroblast growth factor receptor 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FGFR1 gene promoter:
CREB deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FGFR1 promoter sequence

Search SABiosciences Chromatin IP Primers for FGFR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGFR1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p12 Ensembl cytogenetic band: 8p11.22 HGNC cytogenetic band: 8p12

FGFR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGFR1 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M038268: view genomic region (about GC identifiers)

Start:	38,268,656 bp from pter	End:	38,326,352 bp from pter
Size:	57,697 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FGFR1_HUMAN, P11362 (See protein sequence)

Recommended Name: Fibroblast growth factor receptor 1 precursor

Size: 822 amino acids; 91868 Da

Subunit: Monomer. Homodimer after ligand binding. Interacts predominantly with FGF1 and FGF2, but can also interact

with FGF3, FGF4, FGF5, FGF6, FGF8, FGF10, FGF19, FGF21, FGF22 and FGF23 (in vitro). Ligand specificity is determined

by tissue-specific expression of isoforms, and differences in the third Ig-like domain are crucial for ligand

specificity. Affinity for fibroblast growth factors (FGFs) is increased by heparan sulfate glycosaminoglycans that

function as coreceptors. Likewise, KLB increases the affinity for FGF19, FGF21 and FGF23. Interacts (phosphorylated on

Tyr-766) with PLCG1 (via SH2 domains). Interacts with FRS2. Interacts (via C-terminus) with NEDD4 (via WW3 domain).

Interacts with KL (By similarity). Interacts with SHB (via SH2 domain) and GRB10. Interacts with KAL1; this

interaction does not interfere with FGF2-binding to FGFR1, but prevents binding of heparin-bound FGF2. Interacts with

SOX2 and SOX3 (By similarity)

Subcellular location: Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, cytosol. Cytoplasmic

vesicle. Note=After ligand binding, both receptor and ligand are rapidly internalized. Can translocate to the nucleus

after internalization, or by translocation from the endoplasmic reticulum or Golgi apparatus to the cytosol, and from

there to the nucleus

Sequence caution: Sequence=BAD92156.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

6/23 PDB 3D structures from and Proteopedia for FGFR1 (see all 23):

1AGW (3D)

1CVS (3D)

1EVT (3D)

1FGI (3D)

1FGK (3D)

1FQ9 (3D)

Secondary accessions: A8K6T9 A8K8V5 C1KBH8 P17049 Q02063 Q02065 Q14306 Q14307 Q53H63 Q59H40 Q5BJG2

Q8N685 Q9UD50 Q9UDF0 Q9UDF1 Q9UDF2

Alternative splicing: 21 isoforms: P11362-1 P11362-8 P11362-17 P11362-2 P11362-9 P11362-3 P11362-10 P11362-4

P11362-11 P11362-5 P11362-12 P11362-6 P11362-13 P11362-7 P11362-14 P11362-15

P11362-16 P11362-18 P11362-19 P11362-20 P11362-21

Explore the universe of human proteins at neXtProt for FGFR1: NX_P11362

Post-translational modifications:

Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes

receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the

two FGFR molecules present in the dimer and proceeds in a highly ordered manner. Initial autophosphorylation at

Tyr-653 increases the kinase activity by a factor of 50 to 100. After this, Tyr-583 becomes phosphorylated, followed

by phosphorylation of Tyr-463, Tyr-766, Tyr-583 and Tyr-585. In a third stage, Tyr-654 is autophosphorylated,

resulting in a further tenfold increase of kinase activity. Phosphotyrosine residues provide docking sites for

interacting proteins and so are crucial for FGFR1 function and its regulation¹

Ubiquitinated. FGFR1 is rapidly ubiquitinated by NEDD4 after autophosphorylation, leading to internalization and

lysosomal degradation. CBL is recruited to activated FGFR1 via FRS2 and GRB2, and mediates ubiquitination and

subsequent degradation of FGFR1¹

N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form

in the Golgi apparatus¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11362

4/54 DME Specific Peptides for FGFR1 (P11362) (see all 54)

SHHSAWL

DVQSINW

QVARGME

NCTNELY

FGFR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (9 alternative transcripts):

NP_001167534.1 NP_001167535.1 NP_001167536.1 NP_001167537.1 NP_001167538.1 NP_056934.2 NP_075593.1 NP_075594.1

NP_075598.2

ENSEMBL proteins:

ENSP00000380280 ENSP00000432972 ENSP00000380302 ENSP00000348537 ENSP00000337247

ENSP00000327229 ENSP00000380292 ENSP00000434800 ENSP00000380297 ENSP00000435254

ENSP00000434869 ENSP00000434712 ENSP00000433569 ENSP00000435283 ENSP00000433163

ENSP00000434473 ENSP00000392645 ENSP00000400708 ENSP00000398318 ENSP00000393312

ENSP00000400162 ENSP00000340636

Reactome Protein details: P11362
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant FGFR1 Protein
	R&D Systems Recombinant & Natural Proteins for FGFR1 (FGF R1, FGF R1 beta)
	Enzo Life Sciences proteins for FGFR1
	OriGene Purified Proteins (see all 4): FGFR1 OriGene Protein Over-expression Lysate (see all 9): FGFR1 OriGene Custom Protein Services for FGFR1
	GenScript Custom Purified and Recombinant Proteins Services for FGFR1
	Novus Biologicals FGFR1 Proteins Novus Biologicals FGFR1 Lysates
	Sino Biological Recombinant Protein for FGFR1
	ProSpec Recombinant Protein for FGFR1
	Uscn Proteins for FGFR1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	1652059
GO:0005634	nucleus	IEA	--
GO:0005829	cytosol	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	10918587

FGFR1 for ontologies About GeneDecksing

FGFR1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of FGFR1
	R&D Systems Antibodies for FGFR1 (FGF R1, FGF R1 beta)
	Cell Signaling Technology (CST) Antibodies for FGFR1
	OriGene Antibodies (see all 7): FGFR1 OriGene Custom Antibody Services for FGFR1
	GenScript Superior Antibodies for FGFR1
	Novus Biologicals FGFR1 Antibodies
	Abcam antibodies for FGFR1
	Uscn Antibodies for FGFR1
	ThermoFisher Antibody for FGFR1

Assay Products for FGFR1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for FGFR1 (FGF R1) (see all)
	GenScript FGFR1-Activity-based Kinase Assay for Compound Screening
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FGFR1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FGFR1 for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR003598 Ig_sub2

IPR017441 Protein_kinase_ATP_BS

IPR013098 Ig_I-set

IPR011009 Kinase-like_dom

IPR016248 Tyr_kinase_fibroblast_GF_rcpt

Graphical View of Domain Structure for InterPro Entry P11362

ProtoNet protein and cluster: P11362

3 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB008266 Tyrosine protein kinase

IPB013098 Immunoglobulin I-set

UniProtKB/Swiss-Prot: FGFR1_HUMAN, P11362

Domain: The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate

proteoglycans. Isoforms lacking the first Ig-like domain have higher affinity for fibroblast growth factors (FGF) and

heparan sulfate proteoglycans than isoforms with all three Ig-like domains

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor

subfamily

Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains

Similarity: Contains 1 protein kinase domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary: