Gene Gene information from NCBI Gene database.
Entrez ID 2246
Gene name Fibroblast growth factor 1
Gene symbol FGF1
Synonyms (NCBI Gene)
AFGFECGFECGF-betaECGFAECGFBFGF-1FGF-alphaFGFAGLIO703HBGF-1HBGF1
Chromosome 5
Chromosome location 5q31.3
Summary The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cel
miRNA miRNA information provided by mirtarbase database.
155
miRTarBase ID miRNA Experiments Reference
MIRT022188 hsa-miR-124-3p Microarray 18668037
MIRT025666 hsa-miR-7-5p Microarray 17612493
MIRT710282 hsa-miR-7109-3p HITS-CLIP 19536157
MIRT710281 hsa-miR-6819-3p HITS-CLIP 19536157
MIRT710280 hsa-miR-6877-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
PPARG Unknown 22522926
RFX1 Unknown 20189986;22415835
RFX2 Unknown 22415835
RFX3 Unknown 22415835
STAT3 Repression 14673954
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0001759 Process Organ induction IEA
GO:0005104 Function Fibroblast growth factor receptor binding IBA
GO:0005104 Function Fibroblast growth factor receptor binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131220 3665 ENSG00000113578
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05230
Protein name Fibroblast growth factor 1 (FGF-1) (Acidic fibroblast growth factor) (aFGF) (Endothelial cell growth factor) (ECGF) (Heparin-binding growth factor 1) (HBGF-1)
Protein function Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of
PDB 1AXM , 1DJS , 1DZC , 1DZD , 1E0O , 1EVT , 1HKN , 1JQZ , 1JT3 , 1JT4 , 1JT5 , 1JT7 , 1JTC , 1JY0 , 1K5U , 1K5V , 1M16 , 1NZK , 1P63 , 1PZZ , 1Q03 , 1Q04 , 1RG8 , 1RML , 1RY7 , 1YTO , 1Z2V , 1Z4S , 2AFG , 2AQZ , 2AXM , 2ERM , 2HW9 , 2HWA , 2HWM , 2HZ9 , 2K43 , 2K4A , 2K8R , 2KI4 , 2KI6 , 2NTD , 2Q9X , 2RQ9 , 3B9U , 3BA4 , 3BA5 , 3BA7 , 3BAD , 3BAG , 3BAH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 25 148 Fibroblast growth factor Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in kidney and brain. Detected at much lower levels in heart and skeletal muscle. {ECO:0000269|PubMed:11964394, ECO:0000269|PubMed:7504343}.
Sequence
Sequence length 155
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Hippo signaling pathway
Regulation of actin cytoskeleton
Pathways in cancer
Melanoma
Breast cancer
Gastric cancer
  PI3K Cascade
PIP3 activates AKT signaling
Signaling by activated point mutants of FGFR1
Signaling by activated point mutants of FGFR3
FGFR4 ligand binding and activation
FGFR1b ligand binding and activation
FGFR3b ligand binding and activation
FGFR3c ligand binding and activation
FGFR1c ligand binding and activation
FGFR2c ligand binding and activation
FGFR2b ligand binding and activation
FGFR3 mutant receptor activation
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade: FGFR1
Phospholipase C-mediated cascade; FGFR2
Phospholipase C-mediated cascade; FGFR3
Phospholipase C-mediated cascade; FGFR4
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
PI-3K cascade:FGFR2
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
SHC-mediated cascade:FGFR3
FRS-mediated FGFR3 signaling
PI-3K cascade:FGFR3
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
PI-3K cascade:FGFR4
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
Signaling by FGFR2 in disease
Signaling by FGFR1 in disease
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by FGFR3 point mutants in cancer
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN ISCHEMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTENSION CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 9339364, 9624537
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia BEFREE 17561467, 26660953, 27040652
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 20881564
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10383711, 17538174
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 10383711, 9375615
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 11316575
★☆☆☆☆
Found in Text Mining only
Alveolitis, Fibrosing Alveolitis CTD_human_DG 16324872
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21990352, 7539161 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 11726798
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 7507297, 8685603
★☆☆☆☆
Found in Text Mining only