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 receptor activity. Acts upstream of or within several processes, including fin regeneration; negative regulation of endodermal cell fate specification; and nervous system development. Predicted to be located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleus. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including embryonic structure; head; intestine; nervous system; and trunk vasculature. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); carcinoma (multiple); 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
79 figures from 55 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 14 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
hu3264Allele with one point mutationUnknownPremature StopENU
la026639TgTransgenic insertionUnknownUnknownDNA
la029507TgTransgenic insertionUnknownUnknownDNA
sa1689Allele with one point mutationUnknownSplice SiteENU
sa6106Allele with one point mutationUnknownPremature StopENU
sa12393Allele with one point mutationUnknownMissense, Splice SiteENU
sa16812Allele with one point mutationUnknownPremature StopENU
sa21393Allele with one point mutationUnknownPremature StopENU
sa21394Allele with one point mutationUnknownPremature StopENU
sa21395Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
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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
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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
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Domain Details Per Protein
Protein Additional Resources Length Fibroblast growth factor receptor 1, catalytic domain Fibroblast growth factor receptor family Immunoglobulin domain subtype Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype 2 Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Receptor Tyrosine Kinase Serine-threonine/tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain
UniProtKB:A0A891XJQ6 InterPro
UniProtKB:A0A891XJP9 InterPro
UniProtKB:A0A891XJS9 InterPro
UniProtKB:Q90Z00 InterPro 810
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 8
Type Name Annotation Method Has Havana Data Length (nt) Analysis
aberrant processed transcript fgfr1a-202 (1) Ensembl 2,381 nt
mRNA fgfr1a-201 (1) Ensembl 2,430 nt
mRNA fgfr1a-203 (1) Ensembl 2,190 nt
mRNA fgfr1a-204 (1) Ensembl 7,050 nt
mRNA fgfr1a-206 (1) Ensembl 2,808 nt
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Interactions and Pathways
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
AB1-fgfr1a monoclonal Mouse
  • IHC
1
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Plasmids
No data available
Constructs
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Marker Relationships
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanFGFR18
Amino acid sequence comparison (4)
Functional complementation (1)
MouseFgfr18
Amino acid sequence comparison (3)
Citations
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