SLC22A4 - solute carrier family 22 member 4 Gene

Also Known as OCTN1; DFNB60

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6583

About SLC22A4

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,294,394-132,344,190 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC22A4 Protein Structure

Sugar_tr

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

  • ET transporter

Related Diseases

Diseases Alias
Rheumatoid Arthritis
  • RA

  • Arthritis, Rheumatoid

  • Rheumatoid Arthritis, Susceptibility To

  • Arthritis Or Polyarthritis, Rheumatic

  • Atrophic Arthritis

  • Rheumatism Arthritis

  • Rheumatoid Polyarthritis

Hereditary Hearing Loss And Deafness
Arthritis
  • Inflammatory Joint Disease

  • Inflammatory Disorder Of Joint

Inflammatory Bowel Disease 5
  • IBD5

Carnitine Deficiency, Systemic Primary
  • Carnitine Uptake Defect

  • Renal Carnitine Transport Defect

  • Systemic Primary Carnitine Deficiency

  • CDSP

  • Systemic Carnitine Deficiency

  • Carnitine Transporter Deficiency

  • Cud

  • Primary Carnitine Deficiency

  • Carnitine Uptake Deficiency

  • Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine

  • Carnitine Deficiency, Primary

  • Systemic Primary Carnitine Deficiency Disease

  • Deficiency Of Plasma-Membrane Carnitine Transporter

  • Scd

  • Carnitine Transporter, Plasma-Membrane, Deficiency Of

  • Carnitine Transport Defect

  • Carnitine Plasma-Membrane Transporter Deficiency

  • Carnitine Transporter Defect

  • Spcd

Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

Inflammatory Bowel Disease 1
  • Inflammatory Bowel Disease 1

  • IBD1

  • Crohn Disease-Associated Growth Failure

  • Crohn Disease

  • Regional Enteritis

  • Ulcerative Colitis

  • Crohn Disease-Associated Growth Failure, Susceptibility To

  • Inflammatory Bowel Disease 1, Crohn Disease

  • Bowel Disease, Inflammatory, Type 1

Psoriatic Arthritis
  • Psoriatic Arthritis, Susceptibility To

  • Psoriatic Arthropathy

  • Arthropathic Psoriasis

  • Arthritis, Psoriatic

  • Arthritis Psoriatica

  • PSORAS

  • Arthritic Psoriasis

  • Psoriasis Arthropathica

  • Arthritis Psoriatic

  • Arthritis, Psoriatic, Susceptibility To

Crohn'S Disease
  • Crohn Disease

  • Pediatric Crohn'S Disease

  • Regional Enteritis

  • Crohn'S Disease Of Large Bowel

  • Granulomatous Colitis

  • Enteritis, Granulomatous

  • Enteritis

  • Crohn'S Disease Of Colon

  • Colitis, Granulomatous

  • Crohn'S Enteritis

  • Enteritis, Regional

  • Ileitis

  • Adenoviral Enteritis

  • Acute Gastroenteropathy Due To Norwalk Agent

  • Viral Gastroenteritis Due To Norwalk Agent

  • Winter Vomiting

  • Epidemic Winter Vomiting Disease

  • Small Round Structured Virus Enteritis

  • Epidemic Vomiting Syndrome

  • Epidemic Vomiting

  • Epidemic Nausea

  • Epidemic Viral Gastroenteritis Due To Norwalk Virus

  • Noroviral Enteritis

  • Crohn Disease Nos

  • Crohns

  • Cd - [Crohn'S Disease]

  • Regional Enteritis Of Bowel

  • Crohn'S Regional Enteritis

  • Cobble-Stone Appearance Of Intestine

  • Intestinal Ulcer And Erosion Due To Crohn Disease

  • Granulomatous Enteritis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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