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
- Exhibits carnitine transmembrane transporter activity. Involved in carnitine transport and heme biosynthetic process. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Crohn's disease; cardiomyopathy; inherited metabolic disorder; rheumatoid arthritis; and systemic primary carnitine deficiency disease. Is expressed in several structures, including gill; head; liver; pleuroperitoneal region; and skeletal muscle. Orthologous to several human genes including 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