Gene

efemp1

ID

ZDB-GENE-130403-1

Name

EGF containing fibulin extracellular matrix protein 1

Symbol

efemp1 Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in Doyne honeycomb retinal dystrophy. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Raman et al., 2023

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: 3 figures from Raman et al., 2023
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With efemp1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Doyne honeycomb retinal dystrophy	Alliance	Doyne honeycomb degeneration of retina	126600
open-angle glaucoma	Alliance	Glaucoma 1, open angle, H	611276
		Cutis laxa, autosomal recessive, type ID	620780

Associated With efemp1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
osteoarthritis	efemp1^{ulg074/ulg074} (AB)	standard conditions	Raman et al., 2023

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018097	EGF-like calcium-binding, conserved site
Domain	IPR000742	EGF-like domain
Domain	IPR001881	EGF-like calcium-binding domain
Domain	IPR026823	Complement Clr-like EGF domain
Domain	IPR049883	NOTCH1 EGF-like calcium-binding domain
Family	IPR050751	Extracellular matrix structural protein
Homologous_superfamily	IPR009030	Growth factor receptor cysteine-rich domain superfamily
PTM	IPR000152	EGF-type aspartate/asparagine hydroxylation site

Domain Details Per Protein

Protein	Length	Complement Clr-like EGF domain	EGF-like calcium-binding, conserved site	EGF-like calcium-binding domain	EGF-like domain	EGF-type aspartate/asparagine hydroxylation site	Extracellular matrix structural protein	Growth factor receptor cysteine-rich domain superfamily	NOTCH1 EGF-like calcium-binding domain
UniProtKB:A0A8M6Z9P8 InterPro	444

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations