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 be located in microtubule. Predicted to colocalize with mitotic spindle. Is expressed in anterior macula; eye; oocyte; and retinal cone cell. Human ortholog(s) of this gene implicated in skin melanoma and 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 |
| Domain | IPR055439 | Echinoderm microtubule-associated protein-like, first beta-propeller domain |
| Domain | IPR055442 | EML-like, second beta-propeller domain |
| 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 | Additional Resources | Length | Echinoderm microtubule-associated protein-like, first beta-propeller domain | EML-like, second beta-propeller domain | 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 | InterPro | 822 | ||||||||
| UniProtKB:A0A8M9P921 | InterPro | 839 | ||||||||
| UniProtKB:A0A8M9PED7 | InterPro | 835 | ||||||||
| UniProtKB:E7EXY5 | InterPro | 813 | ||||||||
| UniProtKB:A0A2R8RMY7 | InterPro | 817 | ||||||||
| UniProtKB:A0A8M9P088 | InterPro | 840 | ||||||||
| UniProtKB:A0A8M9PKW5 | InterPro | 827 | ||||||||
| UniProtKB:A0A8M9PNX0 | InterPro | 831 |
- Genome Browsers
| 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