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. 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). Is expressed in several structures, including head; integument; intestine; nervous system; and trunk vasculature. Orthologous to human FGFR1 (fibroblast growth factor receptor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

76 figures from 54 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb231 (14 images)
eu444 (13 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 21 figures from 14 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 domain 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
Family	IPR016248	Fibroblast growth factor receptor family
Family	IPR050122	Receptor Tyrosine Kinase
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	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	fgfr1a-202 (1) Ensembl	Ensembl	2,381 nt	Select Tool
mRNA	fgfr1a-201 (1) Ensembl	Ensembl	2,430 nt	Select Tool
mRNA	fgfr1a-203 (1) Ensembl	Ensembl	2,190 nt	Select Tool
mRNA	fgfr1a-204 (1) Ensembl	Ensembl	7,050 nt	Select Tool
mRNA	fgfr1a-206 (1) Ensembl	Ensembl	2,808 nt	Select Tool ZFIN BLAST
ncRNA	fgfr1a-006 (1) Ensembl	Ensembl	871 nt	Select Tool

Interactions and Pathways

SignaFish

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
AB1-fgfr1a	monoclonal	fgfr1a		Mouse	IHC		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations