Gene
eml1
- ID
- ZDB-GENE-060929-156
- Name
- EMAP like 1
- Symbol
- eml1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have microtubule binding activity. Involved in cone photoresponse recovery. Predicted to colocalize with mitotic spindle. Human ortholog(s) of this gene implicated in subcortical band heterotopia. Is expressed in anterior macula; eye; and retinal cone cell. Orthologous to human EML1 (EMAP like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Korenbrot et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
subcortical band heterotopia | Alliance | Band heterotopia | 600348 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR005108 | HELP motif |
Family | IPR050630 | WD repeat Echinoderm Microtubule-associated Protein-like |
Homologous_superfamily | IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily |
Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
Protein | Length | HELP motif | Quinoprotein alcohol dehydrogenase-like superfamily | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily | WD repeat Echinoderm Microtubule-associated Protein-like |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2B5R3
|
822 | ||||||
UniProtKB:A0A8M9P921
|
839 | ||||||
UniProtKB:A0A8M9PED7
|
835 | ||||||
UniProtKB:E7EXY5
|
813 | ||||||
UniProtKB:A0A2R8RMY7
|
817 | ||||||
UniProtKB:A0A8M9P088
|
840 | ||||||
UniProtKB:A0A8M9PKW5
|
827 | ||||||
UniProtKB:A0A8M9PNX0
|
831 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
eml1-201
(1)
|
Havana | 1528 nt | |
mRNA |
eml1-202
(1)
|
Havana | 3487 nt | |
mRNA |
eml1-203
(1)
|
Havana | 539 nt | |
mRNA |
eml1-206
(1)
|
Havana | 515 nt | |
mRNA |
eml1-207
(1)
|
Ensembl | 6463 nt | |
mRNA |
eml1-208
(1)
|
Ensembl | 6037 nt | |
mRNA |
eml1-209
(1)
|
Ensembl | 6445 nt | |
mRNA |
eml1-210
(1)
|
Ensembl | 6472 nt | |
ncRNA |
eml1-004
(1)
|
Havana | 653 nt | |
ncRNA |
eml1-005
(1)
|
Havana | 510 nt |
Interactions and Pathways
No data available
Plasmids
No data available