Solute carrier family 66 member 3 is a gene in humans that encodes the protein SLC66A3. The function of the SLC66A3 protein is not yet well understood but belongs to a family of five evolutionarily related proteins, the SLC66

lysosomal amino acid transporter A lysosome () is a membrane-bound organelle that is found in all mammalian cells, with the exception of red blood cells (erythrocytes). There are normally hundreds of lysosomes in the cytosol, where they function as the cell’s degradation cent ...

s. SLC66A3 is localized to the

endoplasmic reticulum The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for ...

and has four

transmembrane domain A transmembrane domain (TMD, TM domain) is a membrane-spanning protein domain. TMDs may consist of one or several alpha-helices or a transmembrane beta barrel. Because the interior of the lipid bilayer is hydrophobic, the amino acid residues in ...

Gene

The SLC66A3 is a gene consisting of 26,831 base pairs spanning from 11,155,467 to 11,178,856 on

chromosome 2 Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost ei ...

. SLC66A3 mapped to the plus strand at 2p25.1 and contains 7 exons. The SLC66A3 gene is neighbored by the genes

ROCK2 Rho associated coiled-coil containing protein kinase 2 is a protein that in humans is encoded by the ROCK2 gene. Fasudil is an inhibitor of ROCK protein. Function The protein encoded by this gene is a serine/threonine kinase that regulates cyt ...

C2orf50 C, or c, is the third letter of the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''cee'' (pronounced ), plural ''cees''. History "C" ...

, and

KCNF1 Potassium voltage-gated channel subfamily F member 1 is a protein that in humans is encoded by the ''KCNF1'' gene. The protein encoded by this gene is a voltage-gated potassium channel Voltage-gated potassium channels (VGKCs) are potassium ...

. ROCK2 and C2orf50 are both located upstream of SLC66A3 whereas KCNF1 is located upstream. Human chromosome 2 ideogram

Transcripts

SLC66A3 has 14 different mRNAs, there are 12 alternatively-spliced mRNAs that produce functional proteins and 2 unspliced variations that do not. The longest transcript is transcript variant 1 which produces the longest protein at 202 amino acids in length.

Protein

The SLC66A3 protein coding gene that produces a protein with the same name. The mRNA transcript variant 1 is 1,717 bp with 7 exons and produces the longest protein, transcript variant 1. SLC66A3 is a 202 amino acid, 22.6 kDa protein with a theoretical isoelectric point of 9.14. Conceptual Translation of SLC66A3

Secondary structure

The secondary structure of SLC66A3 is predicted to consist of 7 α-helices. The protein contains a signal peptide, 4 transmembrane regions, and a splicing variant region, and is localized in the endoplasmic reticulum.

Tertiary structure

I-TASSER predicts that the tertiary structure contains 7 coils with high certainty. DiANNA predicts disulfide bonds between positions 9 - 57, 17 - 121, and 82 - 157.

Gene level regulation

Promoter

The promoter of SLC66A3 is 1,169 base pairs long and is located 1000 base pairs upstream of the

5' UTR The 5′ untranslated region (also known as 5′ UTR, leader sequence, transcript leader, or leader RNA) is the region of a messenger RNA (mRNA) that is directly Upstream and downstream (DNA), upstream from the initiation codon. This region is im ...

Transcription factors

Many different

transcription factor In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription (genetics), transcription of genetics, genetic information from DNA to messenger RNA, by binding t ...

s regulate the expression of the SLC66A3 gene. Some of these include RNA polymerase II transcription factor II B, Myc associated zinc fingers, EGR/nerve growth factor induced protein C & related factors, and EVI1-myeloid transforming protein.

Expression patterns

SLC66A3 is expressed at high levels in a variety of tissues throughout the body but is most highly abundant in the whole blood and white blood cells. SLC66A3 is expressed at high levels, approximately 2.1 times more than the average gene.

Protein Level Regulation

Post translational modifications

SLC66A3 is predicted to undergo phosphorylation, N-glycosylation, and myristoylation.

Homology/Evolution

Orthologs

SLC66A3 was present in the common ancestor of animals and is found in all animals but not fungi.

References

{{reflist Genes on human chromosome 2