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 enable microtubule binding activity. Acts upstream of or within cone photoresponse recovery. Predicted to colocalize with mitotic spindle. Is expressed in anterior macula; eye; and retinal cone cell. Human ortholog(s) of this gene implicated in subcortical band heterotopia. 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 | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
eml1-201
(1)
|
Ensembl | 1,528 nt | ||
mRNA |
eml1-202
(1)
|
Ensembl | 3,487 nt | ||
mRNA |
eml1-203
(1)
|
Ensembl | 539 nt | ||
mRNA |
eml1-206
(1)
|
Ensembl | 515 nt | ||
mRNA |
eml1-207
(1)
|
Ensembl | 6,463 nt | ||
mRNA |
eml1-208
(1)
|
Ensembl | 6,037 nt | ||
mRNA |
eml1-209
(1)
|
Ensembl | 6,445 nt | ||
mRNA |
eml1-210
(1)
|
Ensembl | 6,472 nt | ||
ncRNA |
eml1-004
(1)
|
Ensembl | 653 nt | ||
ncRNA |
eml1-005
(1)
|
Ensembl | 510 nt |
Interactions and Pathways
No data available
Plasmids
No data available