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
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
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 444
Transcripts
Genome Browsers
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