Gene

egln1b

ID

ZDB-GENE-040718-338

Name

egl-9 family hypoxia-inducible factor 1b

Symbol

egln1b Nomenclature History

Previous Names

egln1
fk45e02
Hif-p4h-2 (1)
wu:fk45e02
zgc:92314 (1)

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Predicted to have L-ascorbic acid binding activity; iron ion binding activity; and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. Predicted to be involved in oxidation-reduction process. Human ortholog(s) of this gene implicated in familial erythrocytosis 3; polycythemia; and renal cell carcinoma. Orthologous to human EGLN1 (egl-9 family hypoxia inducible factor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6892887 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With egln1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
familial erythrocytosis 3	Alliance	Erythrocytosis, familial, 3	609820
		[Hemoglobin, high altitude adaptation]	609070

Associated With egln1b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002893	Zinc finger, MYND-type
Domain	IPR005123	Oxoglutarate/iron-dependent dioxygenase domain
Domain	IPR006620	Prolyl 4-hydroxylase, alpha subunit
Domain	IPR044862	Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain
Family	IPR051559	Hypoxia-inducible factor prolyl hydroxylases