Gene
abca12
- ID
- ZDB-GENE-030131-9790
- Name
- ATP-binding cassette, sub-family A (ABC1), member 12
- Symbol
- abca12 Nomenclature History
- Previous Names
-
- cb352 (1)
- sb:cb352
- si:dkey-95p16.1
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have ATPase-coupled transmembrane transporter activity; apolipoprotein A-I receptor binding activity; and lipid transporter activity. Involved in epidermis morphogenesis. Predicted to localize to intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1; autosomal recessive congenital ichthyosis 4A; and autosomal recessive congenital ichthyosis 4B. Is expressed in EVL; ectoderm; integument; peripheral olfactory organ; and pharynx. Orthologous to human ABCA12 (ATP binding cassette subfamily A member 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb352 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Li et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive congenital ichthyosis 4A | Alliance | Ichthyosis, congenital, autosomal recessive 4A | 601277 |
| autosomal recessive congenital ichthyosis 4B | Alliance | Ichthyosis, congenital, autosomal recessive 4B (harlequin) | 242500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017871 | ABC transporter-like, conserved site |
| Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR013525 | ABC-2 type transporter, transmembrane domain |
| Family | IPR026082 | ABC transporter A |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | AAA+ ATPase domain | ABC-2 type transporter, transmembrane domain | ABC transporter A | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | Armadillo-type fold | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8N7T793
|
5913 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abca12-201
(1)
|
Ensembl | 6,192 nt | ||
| mRNA |
si:dkey-95p16.1-201
(1)
|
Ensembl | 610 nt |
Interactions and Pathways
No data available
Plasmids
No data available