fgfr1a fibroblast growth factor receptor 1a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: fgfr1aprovided by ZNC
Official Full Name: fibroblast growth factor receptor 1aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-980526-255
See related: Ensembl:ENSDARG00000011027 AllianceGenome:ZFIN:ZDB-GENE-980526-255
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cb231; fgfr1; FGFR-1-A; sb:cb231; bFGF-R-1-A
Summary: 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). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 8

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	8	NC_007119.7 (51434138..51524489, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	8	NC_007119.6 (51446828..51537967, complement)

Chromosome 8 - NC_007119.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ccn2a-FGFR1-SHH signaling is necessary for intervertebral disc homeostasis and regeneration in adult zebrafish.
Title: Ccn2a-FGFR1-SHH signaling is necessary for intervertebral disc homeostasis and regeneration in adult zebrafish.
As the AB fish, fgfr1a mutant fish losing dyadic interactions showed a typical loser effect and social subordination resulted in an activation of the brain serotonergic system in fgfr1a mutants as well as in AB fish. Overall the effects of dyadic interaction were similar in fgfr1a mutant fish and zebrafish of the AB strain.
Title: The aggressive spiegeldanio, carrying a mutation in the fgfr1a gene, has no advantage in dyadic fights with zebrafish of the AB strain.
Knockdown of znfl1s led to abnormal cilia formation by the downregulation of fgfr1a and foxj1a expression.
Title: Zebrafish znfl1s regulate left-right asymmetry patterning through controlling the expression of fgfr1a.
Here we demonstrate that of the nine FGFR1 mutations recently detected in our screen of over 200 HPE probands by next generation sequencing, only five distinct mutations in the kinase domain behave as dominant-negative mutations in zebrafish over-expression assays
Title: Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
we show that minimal amounts of Fgfr1a or Fgfr2 are required to initiate a regulatory cascade in pharyngeal endoderm reducing expression of fsta, thereby allowing correct BMP signaling to the maturing chondrocytes of the head cartilage.
Title: Fgf receptors Fgfr1a and Fgfr2 control the function of pharyngeal endoderm in late cranial cartilage development.
Considering all these findings, we concluded that as in mammals, in adult zebrafish the metabolism of lipid and bile acids in the liver are regulated by Fgf signaling.
Title: Fibroblast growth factor (Fgf) signaling pathway regulates liver homeostasis in zebrafish.
Data indicate that fgf20a, fgf24, FGF receptor fgfr1 are expressed in normal and regenerating barbel tissue.
Title: Divergent requirements for fibroblast growth factor signaling in zebrafish maxillary barbel and caudal fin regeneration.
Shroom3 is required downstream of FGF signalling to mediate proneuromast assembly in zebrafish.
Title: Shroom3 is required downstream of FGF signalling to mediate proneuromast assembly in zebrafish.
Requirement of Fgf signaling to maintain photoreceptors and for proliferation during regeneration in the adult zebrafish retina.
Title: Fgf signaling is required for photoreceptor maintenance in the adult zebrafish retina.
Mutation of the gene encoding Fgfr1a simultaneously increases aggression, boldness, and exploration in adult zebrafish.
Title: Modulation of Fgfr1a signaling in zebrafish reveals a genetic basis for the aggression-boldness syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (15)

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables fibroblast growth factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables fibroblast growth factor receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables fibroblast growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables heparin binding	ISS Inferred from Sequence or Structural Similarity more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anatomical structure homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in animal organ development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell migration in hindbrain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fin regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of endodermal cell fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within olfactory nerve formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory placode morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pectoral fin development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of kinase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within post-anal tail morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within posterior lateral line development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to ethanol	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: fibroblast growth factor receptor 1-A

Names: basic fibroblast growth factor receptor 1-A; fibroblast growth factor receptor 1

NP_001296328.1

EC 2.7.10.1

NP_001296329.1

EC 2.7.10.1

NP_694494.2

EC 2.7.10.1

XP_009302578.1

EC 2.7.10.1

XP_009302579.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001309399.1 → NP_001296328.1 fibroblast growth factor receptor 1-A isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

BX247873, CR376860, EH588801

UniProtKB/TrEMBL

A0A891XJS9

Related

ENSDARP00000116533.2, ENSDART00000147742.4

Conserved Domains (4) summary

cd05098
Location:449 → 750

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

pfam18123
Location:357 → 386

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain

cd00096
Location:244 → 247

Ig; Ig strand A [structural motif]

cl11960
Location:244 → 347

Ig; Immunoglobulin domain
NM_001309400.1 → NP_001296329.1 fibroblast growth factor receptor 1-A isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks an exon compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

BX247873, CR376860, EH588801

UniProtKB/Swiss-Prot

Q90Z00

Related

ENSDARP00000131679.2, ENSDART00000167394.2

Conserved Domains (6) summary

cd04974
Location:259 → 349

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:152 → 236

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00410
Location:157 → 236

IG_like; Immunoglobulin like

cd05098
Location:337 → 638

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

pfam07714
Location:351 → 627

Pkinase_Tyr; Protein tyrosine kinase

cl11960
Location:38 → 116

Ig; Immunoglobulin domain
NM_152962.3 → NP_694494.2 fibroblast growth factor receptor 1-A isoform 1 precursor

See identical proteins and their annotated locations for NP_694494.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BX247873, CR376860, EH588801

UniProtKB/Swiss-Prot

A2BEU6, A2BEU7, A4JYD6, B3DGB8, Q1LY25, Q800Y8, Q800Y9, Q800Z0, Q800Z1, Q90Z00

Conserved Domains (6) summary

cd04974
Location:259 → 348

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:152 → 236

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00410
Location:251 → 347

IG_like; Immunoglobulin like

cd05098
Location:451 → 752

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

pfam07714
Location:465 → 741

Pkinase_Tyr; Protein tyrosine kinase

cl11960
Location:38 → 116

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007119.7 Reference GRCz11 Primary Assembly

Range

51434138..51524489 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_009304303.3 → XP_009302578.1 fibroblast growth factor receptor 1-A isoform X1

UniProtKB/TrEMBL

A0A891XJP9

Conserved Domains (4) summary

cd05098
Location:452 → 753

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

pfam18123
Location:358 → 387

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain

cd00096
Location:142 → 145

Ig; Ig strand A [structural motif]

cl11960
Location:142 → 236

Ig; Immunoglobulin domain
XM_009304304.3 → XP_009302579.1 fibroblast growth factor receptor 1-A isoform X2

UniProtKB/Swiss-Prot

Q90Z00

Related

ENSDARP00000013742.8, ENSDART00000024882.9

Conserved Domains (6) summary

cd04974
Location:259 → 345

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:152 → 236

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00410
Location:251 → 345

IG_like; Immunoglobulin like

cd05098
Location:450 → 751

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

pfam07714
Location:464 → 740

Pkinase_Tyr; Protein tyrosine kinase

cl11960
Location:38 → 116

Ig; Immunoglobulin domain