Human Gene SLC25A22 (ENST00000628067.3_7) from GENCODE V47lift37

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Description: solute carrier family 25 member 22, transcript variant 3 (from RefSeq NM_001191061.2)
Gencode Transcript: ENST00000628067.3_7
Gencode Gene: ENSG00000177542.11_21
Transcript (Including UTRs)
Position: hg19 chr11:790,475-798,281 Size: 7,807 Total Exon Count: 10 Strand: -
Coding Region
Position: hg19 chr11:791,915-795,006 Size: 3,092 Coding Exon Count: 9

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr11:790,475-798,281)			mRNA (may differ from genome)		Protein (323 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: GHC1_HUMAN DESCRIPTION: RecName: Full=Mitochondrial glutamate carrier 1; Short=GC-1; AltName: Full=Glutamate/H(+) symporter 1; AltName: Full=Solute carrier family 25 member 22; FUNCTION: Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein (Potential). TISSUE SPECIFICITY: Highly expressed in most tissues. DISEASE: Defects in SLC25A22 are the cause of epileptic encephalopathy early infantile type 3 (EIEE3) [MIM:609304]; also known as early myoclonic encephalopathy (EME) or neonatal epilepsy with suppression-burst pattern. Severe neonatal epilepsies with suppression-burst pattern are early-onset epileptic syndromes characterized by a typical EEG pattern. The suppression-burst pattern of the EEG is characterized by higher-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases. EME is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis of EME 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. EME inheritance is autosomal recessive. SIMILARITY: Belongs to the mitochondrial carrier family. SIMILARITY: Contains 3 Solcar repeats. SEQUENCE CAUTION: Sequence=AAH24212.2; Type=Erroneous initiation;

Primer design for this transcript

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MalaCards Disease Associations


	MalaCards Gene Search: SLC25A22 Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 3* (1329), early myoclonic encephalopathy* (757), epileptic encephalopathy, early infantile, 4* (283), malignant migrating partial seizures of infancy* (157), epileptic encephalopathy, early infantile, 15* (139), persistent vegetative state (19), encephalopathy (13), neonatal period electroclinical syndrome (6), epileptic encephalopathy, early infantile, 6 (4), west syndrome (1) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene C016403 2,4-dinitrotoluene C023514 2,6-dinitrotoluene C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester D000082 Acetaminophen D002185 Cannabidiol D002922 Ciguatoxins D004958 Estradiol D000431 Ethanol D019833 Genistein D006861 Hydrogen Peroxide D008628 Mercury D018817 N-Methyl-3,4-methylenedioxyamphetamine D010634 Phenobarbital D012643 Selenium C093628 cyproconazole C109476 epoxiconazole C016030 pantogab C006253 pirinixic acid C045950 propiconazole C059514 resveratrol

Common Gene Haplotype Alleles


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Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-99.80	228	-0.438	Picture	PostScript	Text
3' UTR	-640.50	1440	-0.445	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR002067 - Mit_carrier
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein

SCOP Domains:
103506 - Mitochondrial carrier

ModBase Predicted Comparative 3D Structure on Q9H936


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details
Gene Sorter

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005280 hydrogen:amino acid symporter activity GO:0005313 L-glutamate transmembrane transporter activity GO:0005314 high-affinity glutamate transmembrane transporter activity GO:0015293 symporter activity Biological Process: GO:0006811 ion transport GO:0006839 mitochondrial transport GO:0015813 L-glutamate transport GO:0055085 transmembrane transport GO:1902600 hydrogen ion transmembrane transport Cellular Component: GO:0005739 mitochondrion GO:0005743 mitochondrial inner membrane GO:0016020 membrane GO:0016021 integral component of membrane

Descriptions from all associated GenBank mRNAs


	LF207969 - JP 2014500723-A/15472: Polycomb-Associated Non-Coding RNAs. BC023545 - Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22, mRNA (cDNA clone MGC:16600 IMAGE:4110556), complete cds. BC019033 - Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22, mRNA (cDNA clone MGC:20950 IMAGE:4577143), complete cds. AL832423 - Homo sapiens mRNA; cDNA DKFZp762M092 (from clone DKFZp762M092). BC024212 - Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22, mRNA (cDNA clone IMAGE:3536255), partial cds. AJ428202 - Homo sapiens partial mRNA for mitochondrial glutamate carrier (GC1 gene), isoform 1. AK023106 - Homo sapiens cDNA FLJ13044 fis, clone NT2RP3001355, weakly similar to TRICARBOXYLATE TRANSPORT PROTEIN PRECURSOR. LF370569 - JP 2014500723-A/178072: Polycomb-Associated Non-Coding RNAs. JD237309 - Sequence 218333 from Patent EP1572962. JD082791 - Sequence 63815 from Patent EP1572962. JD115993 - Sequence 97017 from Patent EP1572962. JD343792 - Sequence 324816 from Patent EP1572962. JD465513 - Sequence 446537 from Patent EP1572962. JD159504 - Sequence 140528 from Patent EP1572962. JD427800 - Sequence 408824 from Patent EP1572962. JD153517 - Sequence 134541 from Patent EP1572962. JD060772 - Sequence 41796 from Patent EP1572962. JD326876 - Sequence 307900 from Patent EP1572962. LF370570 - JP 2014500723-A/178073: Polycomb-Associated Non-Coding RNAs. JD261289 - Sequence 242313 from Patent EP1572962. JD086582 - Sequence 67606 from Patent EP1572962. JD464171 - Sequence 445195 from Patent EP1572962. JD197258 - Sequence 178282 from Patent EP1572962. AK290481 - Homo sapiens cDNA FLJ78275 complete cds, highly similar to Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22 (SLC25A22), mRNA. JD108949 - Sequence 89973 from Patent EP1572962. JD453424 - Sequence 434448 from Patent EP1572962. JD141559 - Sequence 122583 from Patent EP1572962. JD117792 - Sequence 98816 from Patent EP1572962. JD148896 - Sequence 129920 from Patent EP1572962. KJ894723 - Synthetic construct Homo sapiens clone ccsbBroadEn_04117 SLC25A22 gene, encodes complete protein. KR710481 - Synthetic construct Homo sapiens clone CCSBHm_00013302 SLC25A22 (SLC25A22) mRNA, encodes complete protein. DQ892920 - Synthetic construct clone IMAGE:100005550; FLH190848.01X; RZPDo839E0876D solute carrier family 25 (mitochondrial carrier: glutamate), member 22 (SLC25A22) gene, encodes complete protein. DQ895939 - Synthetic construct Homo sapiens clone IMAGE:100010399; FLH190844.01L; RZPDo839E0866D solute carrier family 25 (mitochondrial carrier: glutamate), member 22 (SLC25A22) gene, encodes complete protein. AB528574 - Synthetic construct DNA, clone: pF1KB4917, Homo sapiens SLC25A22 gene for solute carrier family 25 (mitochondrial carrier: glutamate), member 22, without stop codon, in Flexi system. CU676356 - Synthetic construct Homo sapiens gateway clone IMAGE:100018920 5' read SLC25A22 mRNA. AK311038 - Homo sapiens cDNA, FLJ18080. JD516477 - Sequence 497501 from Patent EP1572962. JD516384 - Sequence 497408 from Patent EP1572962. JD148933 - Sequence 129957 from Patent EP1572962. JD460360 - Sequence 441384 from Patent EP1572962. JD076006 - Sequence 57030 from Patent EP1572962. JD412460 - Sequence 393484 from Patent EP1572962. JD416529 - Sequence 397553 from Patent EP1572962. JD127116 - Sequence 108140 from Patent EP1572962. LF370572 - JP 2014500723-A/178075: Polycomb-Associated Non-Coding RNAs. MA606146 - JP 2018138019-A/178072: Polycomb-Associated Non-Coding RNAs. MA606147 - JP 2018138019-A/178073: Polycomb-Associated Non-Coding RNAs. MA606149 - JP 2018138019-A/178075: Polycomb-Associated Non-Coding RNAs. MA443546 - JP 2018138019-A/15472: Polycomb-Associated Non-Coding RNAs.

Biochemical and Signaling Pathways


	BioCarta from NCI Cancer Genome Anatomy Project h_rhodopsinPathway - Visual Signal Transduction Reactome (by CSHL, EBI, and GO) Protein Q9H936 (Reactome details) participates in the following event(s): R-HSA-8875623 SLC25A18,A22 cotransport Glu, H+ from cytosol to mitochondrial matrix R-HSA-428643 Organic anion transporters R-HSA-425374 Amino acid and oligopeptide SLC transporters R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules

Other Names for This Gene


	Alternate Gene Symbols: A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, ENST00000628067.1, ENST00000628067.2, GC1, GHC1_HUMAN, NM_001191061, Q8TBU8, Q9H936, SLC25A22 , uc327yoh.1, uc327yoh.2 UCSC ID: ENST00000628067.3_7 RefSeq Accession: NM_001191061.2 Protein: Q9H936 (aka GHC1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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