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 olfactory nerve formation. 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
-
- All Expression Data
- 76 figures from 54 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb231 (14 images)
- eu444 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
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
|
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UniProtKB:A0A891XJP9
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UniProtKB:A0A891XJS9
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UniProtKB:Q90Z00
|
810 |
| 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 | ||
| ncRNA |
fgfr1a-006
(1)
|
Ensembl | 871 nt |
Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| AB1-fgfr1a | monoclonal | Mouse |
|
1 |
Plasmids
No data available