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 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

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	Additional Resources	Length
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 ZFIN BLAST
mRNA	fgfr1a-201 (1) Ensembl	Ensembl	2,430 nt	Select Tool ZFIN BLAST
mRNA	fgfr1a-203 (1) Ensembl	Ensembl	2,190 nt	Select Tool ZFIN BLAST
mRNA	fgfr1a-204 (1) Ensembl	Ensembl	7,050 nt	Select Tool ZFIN BLAST
mRNA	fgfr1a-206 (1) Ensembl	Ensembl	2,808 nt	Select Tool ZFIN BLAST
ncRNA	fgfr1a-006 (1) Ensembl	Ensembl	871 nt	Select Tool ZFIN BLAST

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