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; forebrain neural keel; forebrain neural rod; 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
-
- All Expression Data
- 19 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d811 (23 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Leerberg et al., 2019
- 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 |
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 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
|
510 | ||||||||||||||
UniProtKB:A0A8M2BGG7
|
738 | ||||||||||||||
UniProtKB:A0A8M9QC50
|
740 | ||||||||||||||
UniProtKB:A0A8M1NUM7
|
740 | ||||||||||||||
UniProtKB:A0A8M3B3N4
|
731 |
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 |
Interactions and Pathways
Plasmids
No data available