Gene

fgfr1b

ID
ZDB-GENE-060503-14
Name
fibroblast growth factor receptor 1b
Symbol
fgfr1b Nomenclature History
Previous Names
  • si:ch211-180b9.1
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Predicted to enable fibroblast growth factor binding activity and fibroblast growth factor receptor activity. Acts upstream of or within several processes, including fibroblast growth factor receptor signaling pathway; pectoral fin development; and post-anal tail morphogenesis. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including basal plate midbrain region; fin; forebrain neural keel; head; and nervous system. 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
22 figures from 11 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Leerberg et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
la017590TgTransgenic insertionUnknownUnknownDNA
sa13288Allele with one point mutationUnknownPremature StopENU
sa14213Allele with one point mutationUnknownPremature StopENU
uc62Allele with one deletionExon 6UnknownCRISPR
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Sequence Targeting Reagents
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Human Disease
Associated With fgfr1b 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 fgfr1b 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 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:A0A8M9QKR2 InterPro 510
UniProtKB:A0A8M2BGG7 InterPro 738
UniProtKB:A0A8M9QC50 InterPro 740
UniProtKB:A0A8M1NUM7 InterPro 740
UniProtKB:A0A8M3B3N4 InterPro 731
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 10
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA fgfr1b-201 (1) Ensembl 2,736 nt
mRNA fgfr1b-202 (1) Ensembl 2,814 nt
mRNA fgfr1b-203 (1) Ensembl 1,038 nt
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Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-180B9ZFIN Curated Data
EncodescDNAcssl:d811Bushell et al., 2007
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanFGFR18
Amino acid sequence comparison (1)
Functional complementation (1)
MouseFgfr18
Amino acid sequence comparison (1)
Citations
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