SLC22A4 - solute carrier family 22 member 4 Gene
Also Known as OCTN1; DFNB60
Species: Homo sapiens
About SLC22A4
This gene has 3 transcripts (splice variants), 449 orthologues, 22 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 7.1), small intestine (RPKM 3.8) and 16 other tissues.
Summary
Polyspecific organic cation transporters in the liver, kidney, intestine, and Other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]
SLC22A4 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_003059.3 | NP_003050.2 | solute carrier family 22 member 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables PDZ domain binding |
IPI
IPI: Inferred from physical interaction
|
15523054 | GOA |
| enables acetylcholine transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
22569296 | GOA |
| enables amino acid transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
23567998 | GOA |
| enables amino-acid betaine transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
33124720 | GOA |
| enables carnitine transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
16729965 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15523054 | GOA |
| enables quaternary ammonium group transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
9426230 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in amino acid import across plasma membrane |
IDA
IDA: Inferred from direct assay
|
23567998 | GOA |
| acts upstream of or within carnitine transport |
IDA
IDA: Inferred from direct assay
|
16729965 | GOA |
| involved in quaternary ammonium group transport |
IDA
IDA: Inferred from direct assay
|
9426230 | GOA |
| involved in xenobiotic transport |
IDA
IDA: Inferred from direct assay
|
23567998 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical plasma membrane |
IDA
IDA: Inferred from direct assay
|
18641280 | GOA |
| located in basal plasma membrane |
IDA
IDA: Inferred from direct assay
|
35307651 | GOA |
| located in mitochondrial membrane |
IDA
IDA: Inferred from direct assay
|
16729965 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
16729965 | GOA |
SLC22A4 Protein Structure
Sugar_tr: Sugar (and other) transporter (138 - 517)
- 0
- 100
- 200
- 300
- 400
- 500
- 551 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
solute carrier family 22 member 4 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Rheumatoid Arthritis |
|
|
| Hereditary Hearing Loss And Deafness |
|
|
| Arthritis |
|
|
| Inflammatory Bowel Disease 5 |
|
|
| Carnitine Deficiency, Systemic Primary |
|
|
| Inflammatory Bowel Disease |
|
|
| Inflammatory Bowel Disease 1 |
|
|
| Psoriatic Arthritis |
|
|
| Crohn'S Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SLC22A4 | VGNC | VGNC:51760 |
| Rattus norvegicus | SLC22A4 | RGD | RGD:621149 |
| Mus musculus | SLC22A4 | MGD | MGI:1353479 |
| Bos taurus | SLC22A4 | VGNC | VGNC:34729 |
| Macaca mulatta | SLC22A4 | VGNC | VGNC:77419 |
| Others | SLC22A4 | NCBI |