FGFR1 (fibroblast growth factor receptor 1)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2260 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Fibroblast growth factor receptor 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
FGFR1 |
SynonymsGene synonyms aliases
|
BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1 |
ChromosomeChromosome number
|
8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
8p11.23 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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] |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs121909627 |
G>C |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
| rs121909628 |
G>A,C |
Risk-factor, pathogenic, likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant |
| rs121909629 |
C>T |
Risk-factor |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs121909630 |
C>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
| rs121909631 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs121909632 |
T>A,C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant |
| rs121909633 |
A>G |
Uncertain-significance, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
| rs121909634 |
A>G |
Pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs121909635 |
C>T |
Risk-factor |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
| rs121909636 |
G>A |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant |
| rs121909637 |
C>A,T |
Risk-factor |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs121909638 |
A>G |
Risk-factor |
Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant |
| rs121909639 |
G>A |
Risk-factor, pathogenic |
Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant |
| rs121909640 |
C>T |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, intron variant, non coding transcript variant |
| rs121909641 |
G>A |
Risk-factor, likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs121909642 |
G>A |
Pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs121909643 |
C>A,G |
Pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs121909644 |
C>A,T |
Risk-factor |
Coding sequence variant, genic downstream transcript variant, missense variant, intron variant, non coding transcript variant |
| rs121909645 |
C>G,T |
Risk-factor, likely-pathogenic |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
| rs121913472 |
G>T |
Likely-pathogenic |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
| rs121913473 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
| rs201490643 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
| rs267606805 |
G>T |
Risk-factor |
Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant |
| rs267606806 |
G>A,C |
Risk-factor |
Non coding transcript variant, synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant |
| rs374904700 |
A>C |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, genic downstream transcript variant, downstream transcript variant, intron variant |
| rs376416531 |
C>A,G,T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant, intron variant |
| rs397515444 |
G>A,T |
Risk-factor |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
| rs397515445 |
T>C |
Risk-factor |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
| rs397515446 |
C>T |
Risk-factor |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
| rs397515481 |
A>G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant |
| rs398122945 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
| rs398122946 |
C>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
| rs515726222 |
C>T |
Uncertain-significance, pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, splice donor variant, missense variant |
| rs515726223 |
T>G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant |
| rs515726224 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
| rs515726225 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
| rs528376963 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
| rs557754125 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
| rs587776835 |
CA>- |
Risk-factor |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs727505369 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant |
| rs727505370 |
A>G |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs727505371 |
AG>- |
Likely-pathogenic |
Downstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
| rs727505373 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, intron variant, missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
| rs727505376 |
C>G,T |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs727505377 |
A>G |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs777345476 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
| rs779707422 |
G>A,T |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Missense variant, synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs780009859 |
G>A,C |
Likely-benign, pathogenic |
Missense variant, synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs863223331 |
G>A |
Pathogenic |
5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
| rs869025669 |
A>G |
Pathogenic |
5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
| rs869025670 |
C>G,T |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs869025671 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs869025672 |
A>C,G |
Likely-benign, pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant |
| rs869320694 |
T>C |
Pathogenic-likely-pathogenic, likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs876661332 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs876661333 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs876661334 |
C>T |
Pathogenic, likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs876661335 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs886037634 |
C>T |
Risk-factor, pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, downstream transcript variant, coding sequence variant |
| rs886041780 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
| rs1057518060 |
C>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs1057518218 |
TTGTGGCTGGG>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
| rs1057519897 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, synonymous variant, non coding transcript variant |
| rs1057519898 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs1057519899 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs1057520536 |
G>C |
Pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs1057524546 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs1060499663 |
C>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
| rs1064793120 |
G>A |
Likely-pathogenic |
Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant |
| rs1064793121 |
A>C |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
| rs1064793122 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant |
| rs1064793123 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant |
| rs1085307879 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
| rs1131691929 |
C>T |
Likely-pathogenic |
Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant |
| rs1554547400 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant |
| rs1554548102 |
T>A |
Likely-pathogenic |
Genic downstream transcript variant, intron variant |
| rs1554548253 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant |
| rs1554549628 |
A>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant |
| rs1554551657 |
ATC>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, genic downstream transcript variant, inframe deletion, non coding transcript variant |
| rs1554551667 |
A>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant |
| rs1554551706 |
G>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant |
| rs1554552774 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
| rs1554562081 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, non coding transcript variant |
| rs1554564353 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, non coding transcript variant |
| rs1554570706 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant |
| rs1554570813 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, intron variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant |
| rs1554594114 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant |
| rs1563433902 |
A>G,T |
Risk-factor, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
| rs1563436265 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
| rs1563626890 |
C>T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
| rs1563627742 |
->GACCAGC |
Pathogenic |
5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant |
| rs1586083500 |
->T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant |
| rs1586111679 |
GT>- |
Risk-factor |
Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
| rs1586172462 |
C>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs1586287678 |
C>T |
Risk-factor |
Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant |
| rs1586287963 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
| rs1586315809 |
->T |
Likely-pathogenic |
5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
| rs1586375906 |
TGCGGGCACGGAGTC>- |
Likely-pathogenic |
5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant, inframe deletion, genic upstream transcript variant |
| rs1586379523 |
G>A |
Likely-pathogenic |
Intron variant, stop gained, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
| miRTarBase ID |
miRNA |
Experiments |
Reference |
| MIRT003228 |
hsa-miR-424-5p |
Luciferase reporter assay |
20065103 |
| MIRT003228 |
hsa-miR-424-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
23803556 |
| MIRT003228 |
hsa-miR-424-5p |
Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR |
23263626 |
| MIRT006795 |
hsa-miR-16-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
21885851 |
| MIRT007113 |
hsa-miR-133b |
Luciferase reporter assay, Western blot, Immunohistochemistry, qRT-PCR |
23296701 |
| MIRT022300 |
hsa-miR-124-3p |
Microarray |
18668037 |
| MIRT037725 |
hsa-miR-744-5p |
CLASH |
23622248 |
| MIRT038377 |
hsa-miR-296-3p |
CLASH |
23622248 |
| MIRT047295 |
hsa-miR-181b-5p |
CLASH |
23622248 |
| MIRT047650 |
hsa-miR-10a-5p |
CLASH |
23622248 |
| MIRT054638 |
hsa-miR-214-3p |
In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot |
24616020 |
| MIRT054638 |
hsa-miR-214-3p |
Luciferase reporter assay, qRT-PCR |
23962428 |
| MIRT054638 |
hsa-miR-214-3p |
PAR-CLIP |
26701625 |
| MIRT054855 |
hsa-miR-149-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
24463821 |
| MIRT054856 |
hsa-miR-149-3p |
Luciferase reporter assay, qRT-PCR, Western blot |
24463821 |
| MIRT437379 |
hsa-miR-503-5p |
Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR |
23263626 |
| MIRT438048 |
hsa-miR-198 |
Luciferase reporter assay |
24357456 |
| MIRT625521 |
hsa-miR-7977 |
HITS-CLIP |
23824327 |
| MIRT625522 |
hsa-miR-561-5p |
HITS-CLIP |
23824327 |
| MIRT625523 |
hsa-miR-4284 |
HITS-CLIP |
23824327 |
| MIRT625524 |
hsa-miR-6778-3p |
HITS-CLIP |
23824327 |
| MIRT625525 |
hsa-miR-4772-3p |
HITS-CLIP |
23824327 |
| MIRT625526 |
hsa-miR-4638-5p |
HITS-CLIP |
23824327 |
| MIRT625527 |
hsa-miR-1307-3p |
HITS-CLIP |
23824327 |
| MIRT625528 |
hsa-miR-1304-3p |
HITS-CLIP |
23824327 |
| MIRT625529 |
hsa-miR-6741-3p |
HITS-CLIP |
23824327 |
| MIRT625530 |
hsa-miR-1281 |
HITS-CLIP |
23824327 |
| MIRT625531 |
hsa-miR-4485-5p |
HITS-CLIP |
23824327 |
| MIRT625532 |
hsa-miR-6890-3p |
HITS-CLIP |
23824327 |
| MIRT734669 |
hsa-miR-296-5p |
Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot |
27714806 |
| MIRT734881 |
hsa-miR-573 |
Luciferase reporter assay, qRT-PCR, Western blot |
26451614 |
| MIRT736120 |
hsa-miR-1226-3p |
PAR-CLIP |
26701625 |
| MIRT736430 |
hsa-miR-1249-5p |
PAR-CLIP |
26701625 |
| MIRT738241 |
hsa-miR-185-5p |
PAR-CLIP |
26701625 |
| MIRT740516 |
hsa-miR-3160-3p |
PAR-CLIP |
26701625 |
| MIRT741713 |
hsa-miR-3619-5p |
PAR-CLIP |
26701625 |
| MIRT742045 |
hsa-miR-3665 |
PAR-CLIP |
26701625 |
| MIRT742461 |
hsa-miR-3689d |
PAR-CLIP |
26701625 |
| MIRT743896 |
hsa-miR-4306 |
PAR-CLIP |
26701625 |
| MIRT744176 |
hsa-miR-4419a |
PAR-CLIP |
26701625 |
| MIRT745203 |
hsa-miR-4487 |
PAR-CLIP |
26701625 |
| MIRT745615 |
hsa-miR-4510 |
PAR-CLIP |
26701625 |
| MIRT745961 |
hsa-miR-4530 |
PAR-CLIP |
26701625 |
| MIRT746368 |
hsa-miR-4644 |
PAR-CLIP |
26701625 |
| MIRT748913 |
hsa-miR-4792 |
PAR-CLIP |
26701625 |
| MIRT749941 |
hsa-miR-5192 |
PAR-CLIP |
26701625 |
| MIRT751043 |
hsa-miR-558 |
PAR-CLIP |
26701625 |
| MIRT752090 |
hsa-miR-6127 |
PAR-CLIP |
26701625 |
| MIRT752162 |
hsa-miR-6129 |
PAR-CLIP |
26701625 |
| MIRT752251 |
hsa-miR-6130 |
PAR-CLIP |
26701625 |
| MIRT752355 |
hsa-miR-6133 |
PAR-CLIP |
26701625 |
| MIRT752425 |
hsa-miR-6134 |
PAR-CLIP |
26701625 |
| MIRT752665 |
hsa-miR-634 |
PAR-CLIP |
26701625 |
| MIRT753287 |
hsa-miR-6515-5p |
PAR-CLIP |
26701625 |
| MIRT754002 |
hsa-miR-6731-5p |
PAR-CLIP |
26701625 |
| MIRT754922 |
hsa-miR-6760-5p |
PAR-CLIP |
26701625 |
| MIRT756190 |
hsa-miR-6797-5p |
PAR-CLIP |
26701625 |
| MIRT757584 |
hsa-miR-6851-5p |
PAR-CLIP |
26701625 |
| MIRT758302 |
hsa-miR-6880-5p |
PAR-CLIP |
26701625 |
| MIRT759464 |
hsa-miR-761 |
PAR-CLIP |
26701625 |
| MIRT759837 |
hsa-miR-7847-3p |
PAR-CLIP |
26701625 |
| MIRT759919 |
hsa-miR-7854-3p |
PAR-CLIP |
26701625 |
| MIRT760138 |
hsa-miR-8077 |
PAR-CLIP |
26701625 |
| MIRT760205 |
hsa-miR-8085 |
PAR-CLIP |
26701625 |
|
| Transcription factors
|
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
| GO ID |
Ontology |
Definition |
Evidence |
Reference |
| GO:0000165 |
Process |
MAPK cascade |
TAS |
|
| GO:0001501 |
Process |
Skeletal system development |
TAS |
7874169 |
| GO:0001764 |
Process |
Neuron migration |
TAS |
15863030 |
| GO:0001837 |
Process |
Epithelial to mesenchymal transition |
IMP |
26451614 |
| GO:0004713 |
Function |
Protein tyrosine kinase activity |
IDA |
8622701 |
| GO:0004714 |
Function |
Transmembrane receptor protein tyrosine kinase activity |
IBA |
21873635 |
| GO:0005007 |
Function |
Fibroblast growth factor-activated receptor activity |
IBA |
21873635 |
| GO:0005007 |
Function |
Fibroblast growth factor-activated receptor activity |
IDA |
18480409, 20133753 |
| GO:0005007 |
Function |
Fibroblast growth factor-activated receptor activity |
TAS |
2167437 |
| GO:0005515 |
Function |
Protein binding |
IPI |
1656221, 8321198, 8753773, 9660748, 10464310, 10490103, 10830168, 11030354, 11401320, 14613973, 18412956, 18441324, 19665973, 19696444, 19966287, 20932831, 21765395, 22035699, 22751148, 22939624, 23063561, 23597563, 24157794, 25241761, 25485703, 26267536, 31980649 |
| GO:0005524 |
Function |
ATP binding |
IEA |
|
| GO:0005576 |
Component |
Extracellular region |
NAS |
1652059 |
| GO:0005634 |
Component |
Nucleus |
IEA |
|
| GO:0005829 |
Component |
Cytosol |
IEA |
|
| GO:0005886 |
Component |
Plasma membrane |
IDA |
18480409 |
| GO:0005886 |
Component |
Plasma membrane |
TAS |
|
| GO:0005887 |
Component |
Integral component of plasma membrane |
IBA |
21873635 |
| GO:0006468 |
Process |
Protein phosphorylation |
NAS |
1846977, 2159626 |
| GO:0007169 |
Process |
Transmembrane receptor protein tyrosine kinase signaling pathway |
IBA |
21873635 |
| GO:0007275 |
Process |
Multicellular organism development |
IBA |
21873635 |
| GO:0008201 |
Function |
Heparin binding |
IDA |
18480409 |
| GO:0008284 |
Process |
Positive regulation of cell population proliferation |
IDA |
8663044 |
| GO:0008284 |
Process |
Positive regulation of cell population proliferation |
IGI |
8663044 |
| GO:0008284 |
Process |
Positive regulation of cell population proliferation |
IMP |
8622701 |
| GO:0008543 |
Process |
Fibroblast growth factor receptor signaling pathway |
IDA |
8663044 |
| GO:0008543 |
Process |
Fibroblast growth factor receptor signaling pathway |
IGI |
8663044 |
| GO:0008543 |
Process |
Fibroblast growth factor receptor signaling pathway |
IPI |
10830168 |
| GO:0008543 |
Process |
Fibroblast growth factor receptor signaling pathway |
TAS |
22235191 |
| GO:0010518 |
Process |
Positive regulation of phospholipase activity |
TAS |
12141425 |
| GO:0010863 |
Process |
Positive regulation of phospholipase C activity |
IDA |
18480409 |
| GO:0014068 |
Process |
Positive regulation of phosphatidylinositol 3-kinase signaling |
TAS |
15863030 |
| GO:0016021 |
Component |
Integral component of membrane |
NAS |
1652059, 1846977, 2159626 |
| GO:0016477 |
Process |
Cell migration |
TAS |
15863030 |
| GO:0017134 |
Function |
Fibroblast growth factor binding |
IBA |
21873635 |
| GO:0017134 |
Function |
Fibroblast growth factor binding |
IDA |
8663044, 18480409 |
| GO:0018108 |
Process |
Peptidyl-tyrosine phosphorylation |
IDA |
8622701, 18480409 |
| GO:0031410 |
Component |
Cytoplasmic vesicle |
IEA |
|
| GO:0033674 |
Process |
Positive regulation of kinase activity |
IBA |
21873635 |
| GO:0042802 |
Function |
Identical protein binding |
IPI |
19696444, 20133753 |
| GO:0042803 |
Function |
Protein homodimerization activity |
IPI |
20133753 |
| GO:0043009 |
Process |
Chordate embryonic development |
TAS |
15863030 |
| GO:0043235 |
Component |
Receptor complex |
IBA |
21873635 |
| GO:0043235 |
Component |
Receptor complex |
IDA |
23382219 |
| GO:0043406 |
Process |
Positive regulation of MAP kinase activity |
IDA |
8622701, 18480409 |
| GO:0043410 |
Process |
Positive regulation of MAPK cascade |
IGI |
26451614 |
| GO:0043410 |
Process |
Positive regulation of MAPK cascade |
IMP |
8622701 |
| GO:0043536 |
Process |
Positive regulation of blood vessel endothelial cell migration |
IGI |
23263626 |
| GO:0045595 |
Process |
Regulation of cell differentiation |
TAS |
12141425 |
| GO:0045597 |
Process |
Positive regulation of cell differentiation |
IBA |
21873635 |
| GO:0045666 |
Process |
Positive regulation of neuron differentiation |
IMP |
8622701 |
| GO:0046777 |
Process |
Protein autophosphorylation |
IDA |
8622701 |
| GO:0048015 |
Process |
Phosphatidylinositol-mediated signaling |
TAS |
12141425 |
| GO:0048705 |
Process |
Skeletal system morphogenesis |
TAS |
15863030 |
| GO:0051897 |
Process |
Positive regulation of protein kinase B signaling |
IGI |
26451614 |
| GO:0051897 |
Process |
Positive regulation of protein kinase B signaling |
TAS |
|
| GO:0090722 |
Function |
Receptor-receptor interaction |
IDA |
24157794 |
| GO:1905564 |
Process |
Positive regulation of vascular endothelial cell proliferation |
IGI |
23263626 |
| GO:2000546 |
Process |
Positive regulation of endothelial cell chemotaxis to fibroblast growth factor |
IDA |
21885851 |
| GO:2001239 |
Process |
Regulation of extrinsic apoptotic signaling pathway in absence of ligand |
TAS |
24357456 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
| Protein
|
| UniProt ID |
P11362 |
| Protein name |
Fibroblast growth factor receptor 1 (FGFR-1) (EC 2.7.10.1) (Basic fibroblast growth factor receptor 1) (BFGFR) (bFGF-R-1) (Fms-like tyrosine kinase 2) (FLT-2) (N-sam) (Proto-oncogene c-Fgr) (CD antigen CD331) |
| Protein 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. |
| PDB |
1AGW
,
1CVS
,
1EVT
,
1FGI
,
1FGK
,
1FQ9
,
1XR0
,
2CR3
,
2FGI
,
3C4F
,
3DPK
,
3GQI
,
3GQL
,
3JS2
,
3KRJ
,
3KRL
,
3KXX
,
3KY2
,
3OJV
,
3RHX
,
3TT0
,
4F63
,
4F64
,
4F65
,
4NK9
,
4NKA
,
4NKS
,
4RWI
,
4RWJ
,
4RWK
,
4RWL
,
4UWB
,
4UWC
,
4UWY
,
4V01
,
4V04
,
4V05
,
4WUN
,
4ZSA
,
5A46
,
5A4C
,
5AM6
,
5AM7
,
5B7V
,
5EW8
,
5FLF
,
5O49
,
5O4A
,
5UQ0
,
5UR1
,
5VND
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00047 |
ig |
38 → 116 |
Immunoglobulin domain |
Domain |
| PF07679 |
I-set |
160 → 247 |
Immunoglobulin I-set domain |
Domain |
| PF07679 |
I-set |
259 → 358 |
Immunoglobulin I-set domain |
Domain |
| PF18123 |
FGFR3_TM |
370 → 400 |
Fibroblast growth factor receptor 3 transmembrane domain |
Domain |
| PF07714 |
PK_Tyr_Ser-Thr |
478 → 754 |
Protein tyrosine and serine/threonine kinase |
Domain |
|
Sequence |
|
| Sequence length |
822 |
| Interactions |
View interactions |
|
|
