Entry - *608332 - SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 3; SLC36A3 - OMIM
 
* 608332

SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 3; SLC36A3


Alternative titles; symbols

PROTON/AMINO ACID TRANSPORTER 3; PAT3


HGNC Approved Gene Symbol: SLC36A3

Cytogenetic location: 5q33.1     Genomic coordinates (GRCh38): 5:151,276,358-151,303,766 (from NCBI)


TEXT

Cloning and Expression

By searching for sequences similar to mouse Slc36a2 (608331), Boll et al. (2003) identified mouse Slc36a3, which they designated Pat3. Using sequence analysis and 5-prime RACE of a testis cDNA library, they cloned human SLC36A3. The deduced 470-amino acid protein contains putative N-glycosylation sites and 3 histidine residues critical for proton binding. Although SLC36A1 (606561) and SLC36A2 have 11 transmembrane domains, SLC36A3 shows a weaker hydrophobicity profile for the region corresponding to transmembrane domain 8 and may therefore contain only 10 transmembrane domains. The authors predicted that the N terminus of SLC36A3 is intracellular and that the C terminus may be extracellular or, in the case of a lysosomal location, intralysosomal. SLC36A3 shares 83% amino acid similarity with mouse Slc36a3. RT-PCR detected expression of mouse Slc36a3 exclusively in adult testis.

By Northern blot analysis of several human tissues, Bermingham and Pennington (2004) detected a 3-kb SLC36A3 transcript expressed only in testis.


Gene Structure

Boll et al. (2003) determined that the SLC36A3 gene contains 10 exons.


Mapping

By genomic sequence analysis, Boll et al. (2003) mapped the SLC36A1, SLC36A2, and SLC36A3 genes within a 250-kb region of chromosome 5q33.1. The homologous mouse genes are clustered within a 150-kb syntenic region of mouse chromosome 11B1.3.


REFERENCES

  1. Bermingham, J. R., Jr., Pennington, J. Organization and expression of the SLC36 cluster of amino acid transporter genes. Mammalian Genome 15: 114-125, 2004. [PubMed: 15058382, related citations] [Full Text]

  2. Boll, M., Foltz, M., Rubio-Aliaga, I., Daniel, H. A cluster of proton/amino acid transporter genes in the human and mouse genomes. Genomics 82: 47-56, 2003. [PubMed: 12809675, related citations] [Full Text]


Contributors:
Victor A. McKusick - updated : 4/22/2004
Creation Date:
Patricia A. Hartz : 12/9/2003
tkritzer : 04/22/2004
terry : 4/22/2004
mgross : 12/9/2003

* 608332

SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 3; SLC36A3


Alternative titles; symbols

PROTON/AMINO ACID TRANSPORTER 3; PAT3


HGNC Approved Gene Symbol: SLC36A3

Cytogenetic location: 5q33.1     Genomic coordinates (GRCh38): 5:151,276,358-151,303,766 (from NCBI)


TEXT

Cloning and Expression

By searching for sequences similar to mouse Slc36a2 (608331), Boll et al. (2003) identified mouse Slc36a3, which they designated Pat3. Using sequence analysis and 5-prime RACE of a testis cDNA library, they cloned human SLC36A3. The deduced 470-amino acid protein contains putative N-glycosylation sites and 3 histidine residues critical for proton binding. Although SLC36A1 (606561) and SLC36A2 have 11 transmembrane domains, SLC36A3 shows a weaker hydrophobicity profile for the region corresponding to transmembrane domain 8 and may therefore contain only 10 transmembrane domains. The authors predicted that the N terminus of SLC36A3 is intracellular and that the C terminus may be extracellular or, in the case of a lysosomal location, intralysosomal. SLC36A3 shares 83% amino acid similarity with mouse Slc36a3. RT-PCR detected expression of mouse Slc36a3 exclusively in adult testis.

By Northern blot analysis of several human tissues, Bermingham and Pennington (2004) detected a 3-kb SLC36A3 transcript expressed only in testis.


Gene Structure

Boll et al. (2003) determined that the SLC36A3 gene contains 10 exons.


Mapping

By genomic sequence analysis, Boll et al. (2003) mapped the SLC36A1, SLC36A2, and SLC36A3 genes within a 250-kb region of chromosome 5q33.1. The homologous mouse genes are clustered within a 150-kb syntenic region of mouse chromosome 11B1.3.


REFERENCES

  1. Bermingham, J. R., Jr., Pennington, J. Organization and expression of the SLC36 cluster of amino acid transporter genes. Mammalian Genome 15: 114-125, 2004. [PubMed: 15058382] [Full Text: https://doi.org/10.1007/s00335-003-2319-3]

  2. Boll, M., Foltz, M., Rubio-Aliaga, I., Daniel, H. A cluster of proton/amino acid transporter genes in the human and mouse genomes. Genomics 82: 47-56, 2003. [PubMed: 12809675] [Full Text: https://doi.org/10.1016/s0888-7543(03)00099-5]


Contributors:
Victor A. McKusick - updated : 4/22/2004

Creation Date:
Patricia A. Hartz : 12/9/2003

Edit History:
tkritzer : 04/22/2004
terry : 4/22/2004
mgross : 12/9/2003