Gene
slc22a5
- ID
- ZDB-GENE-091012-1
- Name
- solute carrier family 22 member 5
- Symbol
- slc22a5 Nomenclature History
- Previous Names
-
- octn2 (1)
- si:ch211-25g7.3
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Enables carnitine transmembrane transporter activity. Acts upstream of or within carnitine transport and heme biosynthetic process. Predicted to be located in apical plasma membrane. Is expressed in several structures, including gill; head; liver; pleuroperitoneal region; and skeletal muscle. Human ortholog(s) of this gene implicated in Crohn's disease; cardiomyopathy; inherited metabolic disorder; and systemic primary carnitine deficiency disease. Orthologous to human SLC22A5 (solute carrier family 22 member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Nilsson et al., 2009
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| systemic primary carnitine deficiency disease | Alliance | Carnitine deficiency, systemic primary | 212140 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR005829 | Sugar transporter, conserved site |
| Domain | IPR020846 | Major facilitator superfamily domain |
| Family | IPR005828 | Major facilitator, sugar transporter-like |
| Family | IPR045915 | Solute carrier family 22 members 4/5 |
| Homologous_superfamily | IPR036259 | MFS transporter superfamily |
Domain Details Per Protein
| Protein | Length | Major facilitator, sugar transporter-like | Major facilitator superfamily domain | MFS transporter superfamily | Solute carrier family 22 members 4/5 | Sugar transporter, conserved site |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PJE3
|
549 | |||||
|
UniProtKB:A0A8M9PV45
|
488 | |||||
|
UniProtKB:A0A8M9PRM1
|
346 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc22a5-201
(1)
|
Ensembl | 3,729 nt |
Interactions and Pathways
No data available
Plasmids
No data available