Gene

fgfr1a

ID
ZDB-GENE-980526-255
Name
fibroblast growth factor receptor 1a
Symbol
fgfr1a Nomenclature History
Previous Names
  • fgfr1
  • cb231 (1)
  • sb:cb231
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Exhibits fibroblast growth factor-activated receptor activity. Involved in several processes, including animal organ development; fin regeneration; and negative regulation of endodermal cell fate specification. Predicted to localize to integral component of plasma membrane and receptor complex. Is expressed in several structures, including head; integument; intestine; nervous system; and trunk vasculature. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); cleft lip; hematologic cancer (multiple); and hypogonadotropic hypogonadism (multiple). Orthologous to human FGFR1 (fibroblast growth factor receptor 1).
Genome Resources
Note
None
Expression
All Expression Data
66 figures from 47 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 10 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With fgfr1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hypogonadotropic hypogonadism 2 with or without anosmia Alliance Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Jackson-Weiss syndrome Alliance Jackson-Weiss syndrome 123150
osteoglophonic dysplasia Alliance Osteoglophonic dysplasia 166250
Pfeiffer syndrome Alliance Pfeiffer syndrome 101600
Encephalocraniocutaneous lipomatosis, somatic mosaic 613001
Hartsfield syndrome 615465
Trigonocephaly 1 190440
Associated With fgfr1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR008266 Tyrosine-protein kinase, active site
Binding_site IPR017441 Protein kinase, ATP binding site
Domain IPR000719 Protein kinase domain
Domain IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
Domain IPR003598 Immunoglobulin subtype 2
Domain IPR003599 Immunoglobulin subtype
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013098 Immunoglobulin I-set
Domain IPR020635 Tyrosine-protein kinase, catalytic domain
Domain IPR028174 Fibroblast growth factor receptor 1, catalytic domain
Domain IPR041159 Fibroblast growth factor receptor, transmembrane domain
Family IPR016248 Fibroblast growth factor receptor family
Homologous_superfamily IPR011009 Protein kinase-like domain superfamily
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
Domain Details Per Protein
Protein Length Fibroblast growth factor receptor 1, catalytic domain Fibroblast growth factor receptor family Fibroblast growth factor receptor, transmembrane domain Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype Immunoglobulin subtype 2 Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Serine-threonine/tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain
UniProtKB:Q90Z00 810
UniProtKB:F1QWQ8 328
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
AB1-fgfr1a monoclonal Mouse
  • IHC
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations