Solute carrier family 30 member 10

SLC30A10
Identifiers
Aliases	SLC30A10, HMDPC, ZNT10, ZNT8, ZRC1, ZnT-10, solute carrier family 30 member 10, HMNDYT1
External IDs	OMIM: 611146 MGI: 2685058 HomoloGene: 100946 GeneCards: SLC30A10
Gene location (Human) Chr. Chromosome 1 (human) Band 1q41 Start 219,685,427 bp End 219,959,018 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 H5 Start 185,187,045 bp End 185,200,959 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa right lobe of liver endothelial cell duodenum retinal pigment epithelium rectum amygdala nucleus accumbens caudate nucleus putamen Top expressed in duodenum liver left lobe of liver ganglionic eminence jejunum yolk sac ileum superior frontal gyrus visual cortex colon More reference expression data BioGPS n/a
Gene ontology Molecular function cation transmembrane transporter activity zinc ion transmembrane transporter activity protein binding manganese ion transmembrane transporter activity Cellular component integral component of membrane membrane endosome early endosome Golgi apparatus recycling endosome plasma membrane Biological process regulation of sequestering of zinc ion manganese ion transport response to zinc ion cation transport zinc ion transport ion transport transmembrane transport zinc ion transmembrane transport epidermal growth factor receptor signaling pathway negative regulation of neuron apoptotic process positive regulation of ERK1 and ERK2 cascade manganese ion transmembrane transport regulation of zinc ion transport negative regulation of reactive oxygen species biosynthetic process cellular response to angiotensin regulation of cellular response to manganese ion negative regulation of cellular senescence cation transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55532 226781 Ensembl ENSG00000196660 ENSMUSG00000026614 UniProt Q6XR72 Q3UVU3 RefSeq (mRNA) NM_001004433 NM_018713 NM_001376929 NM_001033286 RefSeq (protein) NP_061183 NP_001363858 NP_061183.2 NP_001028458 Location (UCSC) Chr 1: 219.69 – 219.96 Mb Chr 1: 185.19 – 185.2 Mb PubMed search
Wikidata
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Solute carrier family 30 member 10 is a protein that in humans is encoded by the SLC30A10 gene.

Function

This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012].

Further reading

• Seve M, Chimienti F, Devergnas S, Favier A (2004). "In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression". BMC Genomics. 5 (1): 32. doi:10.1186/1471-2164-5-32. PMC 428573. PMID 15154973.
• Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN (2008). "Polymorphisms in mitochondrial genes and prostate cancer risk". Cancer Epidemiol. Biomarkers Prev. 17 (12): 3558–66. doi:10.1158/1055-9965.EPI-08-0434. PMC 2750891. PMID 19064571.
• Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V (2012). "Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease". Am. J. Hum. Genet. 90 (3): 467–77. doi:10.1016/j.ajhg.2012.01.017. PMC 3309204. PMID 22341971.
• Tuschl K, Clayton PT, Gospe SM, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB (2012). "Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man". Am. J. Hum. Genet. 90 (3): 457–66. doi:10.1016/j.ajhg.2012.01.018. PMC 3309187. PMID 22341972.
• Bosomworth HJ, Thornton JK, Coneyworth LJ, Ford D, Valentine RA (2012). "Efflux function, tissue-specific expression and intracellular trafficking of the Zn transporter ZnT10 indicate roles in adult Zn homeostasis". Metallomics. 4 (8): 771–9. doi:10.1039/c2mt20088k. PMID 22706290.
• DeWitt MR, Chen P, Aschner M (2013). "Manganese efflux in Parkinsonism: insights from newly characterized SLC30A10 mutations". Biochem. Biophys. Res. Commun. 432 (1): 1–4. doi:10.1016/j.bbrc.2013.01.058. PMC 3594538. PMID 23357421.
• Ribeiro RT, dos Santos-Neto D, Braga-Neto P, Barsottini OG (2013). "Inherited manganism". Clin Neurol Neurosurg. 115 (8): 1536–8. doi:10.1016/j.clineuro.2012.12.032. PMID 23369405. S2CID 5775675.
• Bosomworth HJ, Adlard PA, Ford D, Valentine RA (2013). "Altered expression of ZnT10 in Alzheimer's disease brain". PLOS ONE. 8 (5): e65475. Bibcode:2013PLoSO...865475B. doi:10.1371/journal.pone.0065475. PMC 3669266. PMID 23741496.
• Fujishiro H, Yoshida M, Nakano Y, Himeno S (2014). "Interleukin-6 enhances manganese accumulation in SH-SY5Y cells: implications of the up-regulation of ZIP14 and the down-regulation of ZnT10". Metallomics. 6 (4): 944–9. doi:10.1039/c3mt00362k. PMID 24576911.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.