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2.A.29.14.3
Mitochondrial glutamate carrier 1 (GC1); glutamate:H+ symporter 1 (SLC25A22). It plays a role in glucose-stimulated insulin secretion by β-cells (Casimir et al., 2009), and is responsible for migrating partial seizures in neonatal infancy (MPSI), a severe condition with few known etiologies (Poduri et al. 2013). Early infantile epileptic encephalopathy (EIEE) is a heterogeneous group of severe forms of age-related developmental and epileptic encephalopathies with onset during the first weeks or months of life. EIEE type 3 is caused by variants affecting the function of SLC25A22, which is also responsible for epilepsy of infancy with migrating focal seizures (EIMFS). Lemattre et al. 2019 reported a family with a less severe phenotype of EIEE type 3. Functional studies showed that glutamate oxidation was defective. There are three groups according to the severity of the SLC25A22-related disorders. The variants were classified according to the location of the mutation, depending on the protein domain; patients with two variants located in helical transmembrane domains presented a severe phenotype, whereas patients with at least one variant outside helical transmembrane domains presented a milder phenotype. Thus, there seems to be a continuum of disorders related to SLC25A22 (Lemattre et al. 2019).

Accession Number:Q9H936
Protein Name:Mitochondrial glutamate carrier 1 (GC1) aka glutamate:H+ symporter 1 (SLC25A22)
Length:323
Molecular Weight:34470.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:6
Location1 / Topology2 / Orientation3: Mitochondrion inner membrane1 / Multi-pass membrane protein2
Substrate glutamate, H+

Cross database links:

RefSeq: NP_078974.1   
Entrez Gene ID: 79751   
Pfam: PF00153   
OMIM: 609302  gene
609304  phenotype
KEGG: hsa:79751    hsa:79751   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005743 C:mitochondrial inner membrane
GO:0005313 F:L-glutamate transmembrane transporter activity
GO:0005515 F:protein binding
GO:0015293 F:symporter activity
GO:0015813 P:L-glutamate transport
GO:0055085 P:transmembrane transport
GO:0005634 C:nucleus

References (10)

[1] “Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.”  Fiermonte G.et.al.   11897791
[2] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.”  Molinari F.et.al.   15592994
[5] “Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.”  Fiermonte G.et.al.   11897791
[6] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[7] “Human chromosome 11 DNA sequence and analysis including novel gene identification.”  Taylor T.D.et.al.   16554811
[8] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[9] “Initial characterization of the human central proteome.”  Burkard T.R.et.al.   21269460
[10] “Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.”  Molinari F.et.al.   15592994

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FASTA formatted sequence
1:	MADKQISLPA KLINGGIAGL IGVTCVFPID LAKTRLQNQQ NGQRVYTSMS DCLIKTVRSE 
61:	GYFGMYRGAA VNLTLVTPEK AIKLAANDFF RHQLSKDGQK LTLLKEMLAG CGAGTCQVIV 
121:	TTPMEMLKIQ LQDAGRIAAQ RKILAAQGQL SAQGGAQPSV EAPAAPRPTA TQLTRDLLRS 
181:	RGIAGLYKGL GATLLRDVPF SVVYFPLFAN LNQLGRPASE EKSPFYVSFL AGCVAGSAAA 
241:	VAVNPCDVVK TRLQSLQRGV NEDTYSGILD CARKILRHEG PSAFLKGAYC RALVIAPLFG 
301:	IAQVVYFLGI AESLLGLLQD PQA