UniProtKB - Q9H936 (GHC1_HUMAN)
Protein
Mitochondrial glutamate carrier 1
Gene
SLC25A22
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H+.1 Publication
GO - Molecular functioni
- ATP transmembrane transporter activity Source: InterPro
- L-aspartate transmembrane transporter activity Source: GO_Central
- L-glutamate transmembrane transporter activity Source: UniProtKB
- symporter activity Source: UniProtKB-KW
GO - Biological processi
- aspartate transmembrane transport Source: GO_Central
- ion transport Source: Reactome
- L-glutamate transmembrane transport Source: UniProtKB
- malate-aspartate shuttle Source: GO_Central
Keywordsi
Biological process | Symport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9H936 |
Reactomei | R-HSA-428643, Organic anion transporters |
Protein family/group databases
TCDBi | 2.A.29.14.3, the mitochondrial carrier (mc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial glutamate carrier 1Short name: GC-1 Alternative name(s): Glutamate/H(+) symporter 1 Solute carrier family 25 member 22 |
Gene namesi | Name:SLC25A22 Synonyms:GC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000177542.10 |
HGNCi | HGNC:19954, SLC25A22 |
MIMi | 609302, gene |
neXtProti | NX_Q9H936 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane Curated; Multi-pass membrane protein Curated
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 12 – 32 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Transmembranei | 62 – 82 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Transmembranei | 107 – 127 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Transmembranei | 189 – 209 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Transmembranei | 223 – 243 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Transmembranei | 292 – 312 | Helical; Name=6Sequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 3 (EIEE3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022737 | 206 | P → L in EIEE3. 1 PublicationCorresponds to variant dbSNP:rs121918334EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 79751 |
MalaCardsi | SLC25A22 |
MIMi | 609304, phenotype |
OpenTargetsi | ENSG00000177542 |
Orphaneti | 1934, Early infantile epileptic encephalopathy 1935, Early myoclonic encephalopathy 293181, Malignant migrating focal seizures of infancy |
PharmGKBi | PA134955826 |
Miscellaneous databases
Pharosi | Q9H936, Tbio |
Chemistry databases
DrugBanki | DB00142, Glutamic acid |
Polymorphism and mutation databases
BioMutai | SLC25A22 |
DMDMi | 34222632 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000090619 | 1 – 323 | Mitochondrial glutamate carrier 1Add BLAST | 323 |
Proteomic databases
EPDi | Q9H936 |
jPOSTi | Q9H936 |
MassIVEi | Q9H936 |
MaxQBi | Q9H936 |
PaxDbi | Q9H936 |
PeptideAtlasi | Q9H936 |
PRIDEi | Q9H936 |
ProteomicsDBi | 81277 |
TopDownProteomicsi | Q9H936 |
PTM databases
iPTMneti | Q9H936 |
PhosphoSitePlusi | Q9H936 |
SwissPalmi | Q9H936 |
Expressioni
Tissue specificityi
Highly expressed in most tissues.
Gene expression databases
Bgeei | ENSG00000177542, Expressed in cerebellar vermis and 208 other tissues |
ExpressionAtlasi | Q9H936, baseline and differential |
Genevisiblei | Q9H936, HS |
Organism-specific databases
HPAi | ENSG00000177542, Tissue enhanced (brain, pancreas) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 122862, 64 interactors |
IntActi | Q9H936, 60 interactors |
MINTi | Q9H936 |
STRINGi | 9606.ENSP00000322020 |
Miscellaneous databases
RNActi | Q9H936, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 6 – 93 | Solcar 1Add BLAST | 88 | |
Repeati | 101 – 214 | Solcar 2Add BLAST | 114 | |
Repeati | 223 – 312 | Solcar 3Add BLAST | 90 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0750, Eukaryota |
GeneTreei | ENSGT00940000161196 |
InParanoidi | Q9H936 |
OMAi | CTKKIWQ |
OrthoDBi | 945010at2759 |
PhylomeDBi | Q9H936 |
TreeFami | TF313209 |
Family and domain databases
Gene3Di | 1.50.40.10, 1 hit |
InterProi | View protein in InterPro IPR002067, Mit_carrier IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
PRINTSi | PR00926, MITOCARRIER |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 17 potential isoforms that are computationally mapped.Show allAlign All
Q9H936-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MADKQISLPA KLINGGIAGL IGVTCVFPID LAKTRLQNQQ NGQRVYTSMS
60 70 80 90 100
DCLIKTVRSE GYFGMYRGAA VNLTLVTPEK AIKLAANDFF RHQLSKDGQK
110 120 130 140 150
LTLLKEMLAG CGAGTCQVIV TTPMEMLKIQ LQDAGRIAAQ RKILAAQGQL
160 170 180 190 200
SAQGGAQPSV EAPAAPRPTA TQLTRDLLRS RGIAGLYKGL GATLLRDVPF
210 220 230 240 250
SVVYFPLFAN LNQLGRPASE EKSPFYVSFL AGCVAGSAAA VAVNPCDVVK
260 270 280 290 300
TRLQSLQRGV NEDTYSGILD CARKILRHEG PSAFLKGAYC RALVIAPLFG
310 320
IAQVVYFLGI AESLLGLLQD PQA
Computationally mapped potential isoform sequencesi
There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PJH7 | E9PJH7_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 313 | Annotation score: | ||
K4DIB8 | K4DIB8_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 177 | Annotation score: | ||
E9PI74 | E9PI74_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 127 | Annotation score: | ||
E9PS95 | E9PS95_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 196 | Annotation score: | ||
E9PQ36 | E9PQ36_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 134 | Annotation score: | ||
K4DIB0 | K4DIB0_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 103 | Annotation score: | ||
K4DIA2 | K4DIA2_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 114 | Annotation score: | ||
K4DIA8 | K4DIA8_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 190 | Annotation score: | ||
K4DIB3 | K4DIB3_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 161 | Annotation score: | ||
K4DIB6 | K4DIB6_HUMAN | Mitochondrial glutamate carrier 1 | SLC25A22 | 156 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
The sequence AAH24212 differs from that shown. Reason: Erroneous initiation.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022737 | 206 | P → L in EIEE3. 1 PublicationCorresponds to variant dbSNP:rs121918334EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ428202 mRNA Translation: CAD21007.1 AK023106 mRNA Translation: BAB14407.1 AK290481 mRNA Translation: BAF83170.1 AP006621 Genomic DNA No translation available. BC019033 mRNA Translation: AAH19033.1 BC023545 mRNA Translation: AAH23545.1 BC024212 mRNA Translation: AAH24212.2 Different initiation. |
CCDSi | CCDS7715.1 |
RefSeqi | NP_001177989.1, NM_001191060.1 NP_001177990.1, NM_001191061.1 NP_078974.1, NM_024698.5 XP_011518671.1, XM_011520369.1 XP_011518672.1, XM_011520370.1 XP_011518673.1, XM_011520371.1 |
Genome annotation databases
Ensembli | ENST00000320230; ENSP00000322020; ENSG00000177542 ENST00000531214; ENSP00000437236; ENSG00000177542 ENST00000628067; ENSP00000486058; ENSG00000177542 |
GeneIDi | 79751 |
KEGGi | hsa:79751 |
UCSCi | uc001lri.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ428202 mRNA Translation: CAD21007.1 AK023106 mRNA Translation: BAB14407.1 AK290481 mRNA Translation: BAF83170.1 AP006621 Genomic DNA No translation available. BC019033 mRNA Translation: AAH19033.1 BC023545 mRNA Translation: AAH23545.1 BC024212 mRNA Translation: AAH24212.2 Different initiation. |
CCDSi | CCDS7715.1 |
RefSeqi | NP_001177989.1, NM_001191060.1 NP_001177990.1, NM_001191061.1 NP_078974.1, NM_024698.5 XP_011518671.1, XM_011520369.1 XP_011518672.1, XM_011520370.1 XP_011518673.1, XM_011520371.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 122862, 64 interactors |
IntActi | Q9H936, 60 interactors |
MINTi | Q9H936 |
STRINGi | 9606.ENSP00000322020 |
Chemistry databases
DrugBanki | DB00142, Glutamic acid |
Protein family/group databases
TCDBi | 2.A.29.14.3, the mitochondrial carrier (mc) family |
PTM databases
iPTMneti | Q9H936 |
PhosphoSitePlusi | Q9H936 |
SwissPalmi | Q9H936 |
Polymorphism and mutation databases
BioMutai | SLC25A22 |
DMDMi | 34222632 |
Proteomic databases
EPDi | Q9H936 |
jPOSTi | Q9H936 |
MassIVEi | Q9H936 |
MaxQBi | Q9H936 |
PaxDbi | Q9H936 |
PeptideAtlasi | Q9H936 |
PRIDEi | Q9H936 |
ProteomicsDBi | 81277 |
TopDownProteomicsi | Q9H936 |
Protocols and materials databases
Antibodypediai | 9992, 66 antibodies |
DNASUi | 79751 |
Genome annotation databases
Ensembli | ENST00000320230; ENSP00000322020; ENSG00000177542 ENST00000531214; ENSP00000437236; ENSG00000177542 ENST00000628067; ENSP00000486058; ENSG00000177542 |
GeneIDi | 79751 |
KEGGi | hsa:79751 |
UCSCi | uc001lri.3, human |
Organism-specific databases
CTDi | 79751 |
DisGeNETi | 79751 |
EuPathDBi | HostDB:ENSG00000177542.10 |
GeneCardsi | SLC25A22 |
HGNCi | HGNC:19954, SLC25A22 |
HPAi | ENSG00000177542, Tissue enhanced (brain, pancreas) |
MalaCardsi | SLC25A22 |
MIMi | 609302, gene 609304, phenotype |
neXtProti | NX_Q9H936 |
OpenTargetsi | ENSG00000177542 |
Orphaneti | 1934, Early infantile epileptic encephalopathy 1935, Early myoclonic encephalopathy 293181, Malignant migrating focal seizures of infancy |
PharmGKBi | PA134955826 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0750, Eukaryota |
GeneTreei | ENSGT00940000161196 |
InParanoidi | Q9H936 |
OMAi | CTKKIWQ |
OrthoDBi | 945010at2759 |
PhylomeDBi | Q9H936 |
TreeFami | TF313209 |
Enzyme and pathway databases
PathwayCommonsi | Q9H936 |
Reactomei | R-HSA-428643, Organic anion transporters |
Miscellaneous databases
BioGRID-ORCSi | 79751, 28 hits in 848 CRISPR screens |
GenomeRNAii | 79751 |
Pharosi | Q9H936, Tbio |
PROi | PR:Q9H936 |
RNActi | Q9H936, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177542, Expressed in cerebellar vermis and 208 other tissues |
ExpressionAtlasi | Q9H936, baseline and differential |
Genevisiblei | Q9H936, HS |
Family and domain databases
Gene3Di | 1.50.40.10, 1 hit |
InterProi | View protein in InterPro IPR002067, Mit_carrier IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
PRINTSi | PR00926, MITOCARRIER |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GHC1_HUMAN | |
Accessioni | Q9H936Primary (citable) accession number: Q9H936 Secondary accession number(s): A8K366 Q8TBU8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 22, 2003 |
Last sequence update: | March 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 173 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations