The protein encoded by SLC25A22 is involved in the transport of glutamate, cotransported with H+, across the inner mitochondrial membrane.[10][11] Both SLC25A22 and SLC25A18 are mitochondrial glutamate/H+ symporters.[7]
Clinical significanceedit
Epileptic encephalopathyedit
Mutations in the SLC25A22 gene cause early infantile epileptic encephalopathy 3 (EIEE3), a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state.[10][11]
Migrating partial seizures in infancy, caused by a specific G110R mutation in the SLC25A22 gene, can be inherited.[12]
Although expression of SLC25A22 is high in most tissues, expression is particularly strong in the developing brain, with regions of the brain involved in the genesis and control of myoclonic seizures specifically expressing SLC25A22 during human development.[13][7][12][10][11]
Colorectal canceredit
SLC25A22 expression is increased in colorectal tumor tissues compared to matched nontumor colon tissues. Increased expression of the encoded protein was associated with decreased survival times in colorectal cancer patients. Knockdown of this gene in mutant colorectal cells decreased their migration, proliferation, and invasion.[6]
^ abcGRCh38: Ensembl release 89: ENSG00000177542 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000019082 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Solute carrier family 25 member 22". Retrieved 2016-10-15. This article incorporates text from this source, which is in the public domain.
^ abWong CC, Qian Y, Li X, Xu J, Kang W, Tong JH, et al. (November 2016). "SLC25A22 Promotes Proliferation and Survival of Colorectal Cancer Cells With KRAS Mutations and Xenograft Tumor Progression in Mice via Intracellular Synthesis of Aspartate". Gastroenterology. 151 (5): 945–960.e6. doi:10.1053/j.gastro.2016.07.011. PMID 27451147.
^Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, et al. (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC4076475. PMID 23965338.
^ abcd"SLC25A22 - Mitochondrial glutamate carrier 1 - Homo sapiens (Human) - SLC25A22 gene & protein". www.uniprot.org. Retrieved 2018-08-24. This article incorporates text available under the CC BY 4.0 license.
^ abPoduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, et al. (December 2013). "SLC25A22 is a novel gene for migrating partial seizures in infancy". Annals of Neurology. 74 (6): 873–82. doi:10.1002/ana.23998. PMC4031329. PMID 24596948.
^Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, et al. (February 2005). "Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy". American Journal of Human Genetics. 76 (2): 334–9. doi:10.1086/427564. PMC1196378. PMID 15592994.
Palmieri F (2013). "The mitochondrial transporter family SLC25: identification, properties and physiopathology". Molecular Aspects of Medicine. 34 (2–3): 465–84. doi:10.1016/j.mam.2012.05.005. PMID 23266187.
slc25a22, solute, carrier, family, member, protein, that, humans, encoded, gene, this, gene, encodes, mitochondrial, glutamate, carrier, mutations, this, gene, associated, with, early, infantile, epileptic, encephalopathy, expression, this, gene, increased, co. Solute carrier family 25 member 22 is a protein that in humans is encoded by the SLC25A22 gene This gene encodes a mitochondrial glutamate carrier Mutations in this gene are associated with early infantile epileptic encephalopathy 5 Expression of this gene is increased in colorectal tumor cells 6 SLC25A22IdentifiersAliasesSLC25A22 EIEE3 GC1 NET44 GC 1 solute carrier family 25 member 22 DEE3External IDsOMIM 609302 MGI 1915517 HomoloGene 69383 GeneCards SLC25A22Gene location Human Chr Chromosome 11 human 1 Band11p15 5Start790 475 bp 1 End798 281 bp 1 Gene location Mouse Chr Chromosome 7 mouse 2 Band7 7 F5Start141 009 657 bp 2 End141 017 805 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inbody of pancreasprefrontal cortexamygdalaBrodmann area 9anterior pituitarynucleus accumbenscerebellar vermishippocampus propercaudate nucleusputamenTop expressed inintestinal villussuperior frontal gyruscerebellar cortexsubiculumpiriform cortexmedial dorsal nucleusleft lobe of liverhippocampus properprefrontal cortexprimary motor cortexMore reference expression dataBioGPSn aGene ontologyMolecular functionsymporter activity L glutamate transmembrane transporter activity amino acid proton symporter activity high affinity glutamate transmembrane transporter activity L aspartate transmembrane transporter activity transmembrane transporter activityCellular componentmembrane mitochondrion mitochondrial inner membrane integral component of membraneBiological processtransmembrane transport L glutamate transmembrane transport ion transport mitochondrial transport proton transmembrane transport aspartate transmembrane transport malate aspartate shuttle L aspartate transmembrane transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez7975168267EnsemblENSG00000177542ENSMUSG00000019082UniProtQ9H936Q9D6M3RefSeq mRNA NM 001191060NM 001191061NM 024698NM 001177576NM 026646NM 001360723NM 001360724RefSeq protein NP 001177989NP 001177990NP 078974NP 001171047NP 080922NP 001347652NP 001347653Location UCSC Chr 11 0 79 0 8 MbChr 7 141 01 141 02 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Function 3 Clinical significance 3 1 Epileptic encephalopathy 3 2 Colorectal cancer 4 Interactions 5 References 6 Further readingStructure editThe SLC25A22 gene is located on the p arm of chromosome 11 in position 15 5 and has 9 exons spanning 7 807 base pairs 7 The gene produces a 34 5 kDa protein composed of 323 amino acids 8 9 7 The encoded protein is a multi pass transmembrane protein located in the mitochondrial inner membrane 10 11 Function editThe protein encoded by SLC25A22 is involved in the transport of glutamate cotransported with H across the inner mitochondrial membrane 10 11 Both SLC25A22 and SLC25A18 are mitochondrial glutamate H symporters 7 Clinical significance editEpileptic encephalopathy edit Mutations in the SLC25A22 gene cause early infantile epileptic encephalopathy 3 EIEE3 a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression burst patterns characterized by high voltage bursts alternating with almost flat suppression phases Epileptic encephalopathy early infantile type 3 is characterized by a very early onset erratic and fragmentary myoclonus massive myoclonus partial motor seizures and late tonic spasms The prognosis is poor with no effective treatment and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state 10 11 Migrating partial seizures in infancy caused by a specific G110R mutation in the SLC25A22 gene can be inherited 12 Although expression of SLC25A22 is high in most tissues expression is particularly strong in the developing brain with regions of the brain involved in the genesis and control of myoclonic seizures specifically expressing SLC25A22 during human development 13 7 12 10 11 Colorectal cancer edit SLC25A22 expression is increased in colorectal tumor tissues compared to matched nontumor colon tissues Increased expression of the encoded protein was associated with decreased survival times in colorectal cancer patients Knockdown of this gene in mutant colorectal cells decreased their migration proliferation and invasion 6 Interactions editThe encoded protein interacts with SLC38A1 NDUFAF4 and 43 other proteins 14 References edit a b c GRCh38 Ensembl release 89 ENSG00000177542 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000019082 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene Solute carrier family 25 member 22 Retrieved 2016 10 15 nbsp This article incorporates text from this source which is in the public domain a b Wong CC Qian Y Li X Xu J Kang W Tong JH et al November 2016 SLC25A22 Promotes Proliferation and Survival of Colorectal Cancer Cells With KRAS Mutations and Xenograft Tumor Progression in Mice via Intracellular Synthesis of Aspartate Gastroenterology 151 5 945 960 e6 doi 10 1053 j gastro 2016 07 011 PMID 27451147 a b c d Online Mendelian Inheritance in Man OMIM SLC25A22 609302 Zong NC Li H Li H Lam MP Jimenez RC Kim CS et al October 2013 Integration of cardiac proteome biology and medicine by a specialized knowledgebase Circulation Research 113 9 1043 53 doi 10 1161 CIRCRESAHA 113 301151 PMC 4076475 PMID 23965338 SLC25A22 Mitochondrial glutamate carrier 1 Cardiac Organellar Protein Atlas Knowledgebase COPaKB a b c d SLC25A22 Mitochondrial glutamate carrier 1 Homo sapiens Human SLC25A22 gene amp protein www uniprot org Retrieved 2018 08 24 nbsp This article incorporates text available under the CC BY 4 0 license a b c d The UniProt Consortium January 2017 UniProt the universal protein knowledgebase Nucleic Acids Research 45 D1 D158 D169 doi 10 1093 nar gkw1099 PMC 5210571 PMID 27899622 a b Poduri A Heinzen EL Chitsazzadeh V Lasorsa FM Elhosary PC LaCoursiere CM et al December 2013 SLC25A22 is a novel gene for migrating partial seizures in infancy Annals of Neurology 74 6 873 82 doi 10 1002 ana 23998 PMC 4031329 PMID 24596948 Molinari F Raas Rothschild A Rio M Fiermonte G Encha Razavi F Palmieri L et al February 2005 Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy American Journal of Human Genetics 76 2 334 9 doi 10 1086 427564 PMC 1196378 PMID 15592994 SLC25A22 interactors IntAct EMBL EBI Retrieved 2018 08 26 Further reading editPalmieri F 2013 The mitochondrial transporter family SLC25 identification properties and physiopathology Molecular Aspects of Medicine 34 2 3 465 84 doi 10 1016 j mam 2012 05 005 PMID 23266187 This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title SLC25A22 amp oldid 1178520300, wikipedia, wiki, book, books, library,
