Solute Carrier Family 22 (Organic Cation Transporter), Member 1

Alternative Names

  • SLC22A1
  • Organic Cation Transporter 1
  • OCT1

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

602607

NCBI Gene ID

6580

Uniprot ID

O15245

Length

38,783 bases

No. of Exons

13

No. of isoforms

4

Protein Name

Solute carrier family 22 member 1

Molecular Mass

61154Da

Amino Acid Count

554

Genomic Location

chr6:160,121,808-160,160,590

Gene Map Locus
6q25.3

Description

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. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003057.2:c.1386-2964C>ALebanonNC_000006.12:g.160151834C>ADrug ResponseType 2 Diabetes MellitusNM_003057.2:c.1386-2964C>A622342
NM_003057.3:c.1386-2964=LebanonNC_000006.12:g.160151834=Drug ResponseType 2 Diabetes MellitusNM_003057.3:c.1386-2964=622342
NM_003057.3:c.1498+43=United Arab EmiratesNC_000006.12:g.160154953=NM_003057.3:c.1498+43=2297374
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