Fields »

GENE AND PROTEIN SUMMARY

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Gene name

SLC22A5

Description

solute carrier family 22 (organic cation/carnitine transporter), member 5

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters

Protein evidence

Medium

Entrez gene 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 a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

6 in total
5 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Medium

-

-

A-549 Lung Medium

-

-

CACO-2 Colon Medium

-

-

HEK 293 Embryonal kidney Medium

-

-

HeLa Cervix High

-

-

Hep-G2 Liver Low

-

-

MCF-7 Pleural effusion Medium

-

-

PC-3 Bone marrow Medium

-

-

RT-4 Urinary bladder Medium

-

-

U-2 OS Bone Medium

-

-

U-251 MG Brain Low

-

-

ANTIBODY SUMMARY

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Pending antibodies