egln1a

ID

ZDB-GENE-110408-34

Name

egl-9 family hypoxia-inducible factor 1a

Symbol

egln1a Nomenclature History

Previous Names

si:ch1073-423n4.1 (1)

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable ferrous iron binding activity and peptidyl-proline 4-dioxygenase activity. Acts upstream of or within nucleate erythrocyte development. Predicted to be active in cytoplasm and nucleus. Is expressed in brain; eye; liver; muscle; and pleuroperitoneal region. 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

1 figure from Dou et al., 2024

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from Dou et al., 2024
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With egln1a 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 egln1a 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