Alternative titles; symbols
HGNC Approved Gene Symbol: SLC17A9
Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:62,952,709-62,969,585 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 20q13.33 | Porokeratosis 8, disseminated superficial actinic type | 616063 | Autosomal dominant | 3 |
Sawada et al. (2008) cloned human SLC17A9, which encodes a deduced 430-amino acid protein with 12 transmembrane domains. Northern blot analysis of mouse and human tissues detected wide SLC17A9 expression, with highest levels in adrenal gland, brain, and thyroid gland. Immunohistochemical analysis localized Slc17a9 to chromaffin granules in mouse adrenal medulla. SDS-PAGE of human SLC17A9 expressed in insect cells revealed proteins of 63 and 68 kD.
Sawada et al. (2008) determined that the SLC17A9 gene contains 14 exons and spans about 13 kb.
By genomic sequence analysis, Sawada et al. (2008) mapped the SLC17A9 gene to chromosome 20q13.3.
Sawada et al. (2008) showed that proteoliposomes containing purified human SLC17A9 actively took up ATP, ADP, and GTP using membrane potential as the driving force. ATP uptake was Cl- dependent, and the properties of ATP transport were similar to those found in synaptic vesicles and chromaffin granules. Suppression of endogenous Slc17a9 in a rat pheochromocytoma cell line decreased exocytosis of ATP. Sawada et al. (2008) concluded that SLC17A9 is a vesicular nucleotide transporter.
In affected members of 2 unrelated Chinese families segregating autosomal dominant disseminated superficial actinic porokeratosis-8 (POROK8; 616063), Cui et al. (2014) identified 2 different heterozygous missense mutations: R311Q (612107.0001) and R9C (612107.0002). The mutations, which segregated with disease in each of the families, were not found in 1,457 controls.
In affected individuals from a 3-generation Chinese family with disseminated superficial actinic porokeratosis-8 (POROK8; 616063), Cui et al. (2014) identified heterozygosity for a c.932G-A transition in exon 10 of the SLC17A9 gene, resulting in an arg311-to-gln (R311Q) substitution at a highly conserved residue in the major facilitator superfamily (MFS) domain, general substrate transporter. The mutation was not found in unaffected family members or in 1,457 unrelated controls.
In a Chinese father and son with POROK8 (616063), Cui et al. (2014) identified heterozygosity for a c.25C-T transition in exon 2 of the SLC17A9 gene, resulting in an arg9-to-cys (R9C) substitution at a highly conserved residue in the major facilitator superfamily (MFS) domain, general substrate transporter. The mutation was not found in the proband's unaffected brother or in 1,457 unrelated controls.
Cui, H., Li, L., Wang, W., Shen, J., Yue, Z., Zheng, X., Zuo, X., Liang, B., Gao, M., Fan, X., Yin, X., Shen, C., and 14 others. Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. J. Med. Genet. 51: 699-704, 2014. [PubMed: 25180256] [Full Text: https://doi.org/10.1136/jmedgenet-2014-102486]
Sawada, K., Echigo, N., Juge, N., Miyaji, T., Otsuka, M., Omote, H., Yamamoto, A., Moriyama, Y. Identification of a vesicular nucleotide transporter. Proc. Nat. Acad. Sci. 105: 5683-5686, 2008. [PubMed: 18375752] [Full Text: https://doi.org/10.1073/pnas.0800141105]