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
Enables fibroblast growth factor-activated receptor activity. Acts upstream of or within several processes, including animal organ development; fin regeneration; and negative regulation of endodermal cell fate specification. Predicted to be located in plasma membrane. Predicted to be part of receptor complex. Predicted to be integral component of plasma membrane. 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
Comparative Information
Expression
All Expression Data
68 figures from 48 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 11 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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations