Q9H936 · GHC1_HUMAN
- ProteinMitochondrial glutamate carrier 1
- GeneSLC25A22
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids323 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Mitochondrial glutamate/H+ symporter. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (PubMed:11897791).
Plays a role in the control of glucose-stimulated insulin secretion (By similarity).
Plays a role in the control of glucose-stimulated insulin secretion (By similarity).
Catalytic activity
- H+(in) + L-glutamate(in) = H+(out) + L-glutamate(out)H+ (in)CHEBI:15378
+ L-glutamate (in)CHEBI:29985= H+ (out)CHEBI:15378+ L-glutamate (out)CHEBI:29985
Kinetics
KM | SUBSTRATE | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|---|
4.85 mM | glutamate |
Vmax | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|
63.1 μmol/min/g | with glutamate as substrate |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Molecular Function | amino acid:proton symporter activity | |
Molecular Function | L-aspartate transmembrane transporter activity | |
Molecular Function | L-glutamate transmembrane transporter activity | |
Biological Process | aspartate transmembrane transport | |
Biological Process | L-glutamate transmembrane transport | |
Biological Process | malate-aspartate shuttle | |
Biological Process | monoatomic ion transport | |
Biological Process | regulation of insulin secretion |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameMitochondrial glutamate carrier 1
- Short namesGC-1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9H936
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion inner membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 12-32 | Helical; Name=1 | ||||
Sequence: LINGGIAGLIGVTCVFPIDLA | ||||||
Transmembrane | 62-82 | Helical; Name=2 | ||||
Sequence: YFGMYRGAAVNLTLVTPEKAI | ||||||
Transmembrane | 107-127 | Helical; Name=3 | ||||
Sequence: MLAGCGAGTCQVIVTTPMEML | ||||||
Transmembrane | 189-209 | Helical; Name=4 | ||||
Sequence: GLGATLLRDVPFSVVYFPLFA | ||||||
Transmembrane | 223-243 | Helical; Name=5 | ||||
Sequence: SPFYVSFLAGCVAGSAAAVAV | ||||||
Transmembrane | 292-312 | Helical; Name=6 | ||||
Sequence: ALVIAPLFGIAQVVYFLGIAE |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Developmental and epileptic encephalopathy 3 (DEE3)
- Note
- 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. DEE3 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.
- See alsoMIM:609304
Natural variants in DEE3
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_022737 | 206 | P>L | in DEE3; disrupts L-glutamate transporter activity; dbSNP:rs121918334 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_022737 | 206 | in DEE3; disrupts L-glutamate transporter activity; dbSNP:rs121918334 | |||
Sequence: P → L |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 466 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000090619 | 1-323 | Mitochondrial glutamate carrier 1 | |||
Sequence: MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEKAIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSVEAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAAVAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQDPQA |
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed at high levels in brain, liver, and pancreas.
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 6-93 | Solcar 1 | ||||
Sequence: ISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEKAIKLAANDFFRHQ | ||||||
Repeat | 101-214 | Solcar 2 | ||||
Sequence: LTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSVEAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQL | ||||||
Repeat | 223-312 | Solcar 3 | ||||
Sequence: SPFYVSFLAGCVAGSAAAVAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAE |
Sequence similarities
Belongs to the mitochondrial carrier (TC 2.A.29) family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length323
- Mass (Da)34,470
- Last updated2001-03-01 v1
- ChecksumD0E06FD88E5A3198
Computationally mapped potential isoform sequences
There are 17 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
K4DIA2 | K4DIA2_HUMAN | SLC25A22 | 114 | ||
K4DIA8 | K4DIA8_HUMAN | SLC25A22 | 190 | ||
K4DIB0 | K4DIB0_HUMAN | SLC25A22 | 103 | ||
K4DIB3 | K4DIB3_HUMAN | SLC25A22 | 161 | ||
K4DIB4 | K4DIB4_HUMAN | SLC25A22 | 65 | ||
K4DIB6 | K4DIB6_HUMAN | SLC25A22 | 156 | ||
K4DIB8 | K4DIB8_HUMAN | SLC25A22 | 177 | ||
A0A0D9SEI9 | A0A0D9SEI9_HUMAN | SLC25A22 | 197 | ||
A0A0D9SG84 | A0A0D9SG84_HUMAN | SLC25A22 | 117 | ||
A0A0D9SFA8 | A0A0D9SFA8_HUMAN | SLC25A22 | 97 | ||
A0A0D9SFE1 | A0A0D9SFE1_HUMAN | SLC25A22 | 247 | ||
E9PS95 | E9PS95_HUMAN | SLC25A22 | 196 | ||
E9PQ36 | E9PQ36_HUMAN | SLC25A22 | 134 | ||
A0A0A6YYN8 | A0A0A6YYN8_HUMAN | SLC25A22 | 78 | ||
E9PJH7 | E9PJH7_HUMAN | SLC25A22 | 313 | ||
E9PJY0 | E9PJY0_HUMAN | SLC25A22 | 72 | ||
E9PI74 | E9PI74_HUMAN | SLC25A22 | 127 |
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AJ428202 EMBL· GenBank· DDBJ | CAD21007.1 EMBL· GenBank· DDBJ | mRNA | ||
AK023106 EMBL· GenBank· DDBJ | BAB14407.1 EMBL· GenBank· DDBJ | mRNA | ||
AK290481 EMBL· GenBank· DDBJ | BAF83170.1 EMBL· GenBank· DDBJ | mRNA | ||
AP006621 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC019033 EMBL· GenBank· DDBJ | AAH19033.1 EMBL· GenBank· DDBJ | mRNA | ||
BC023545 EMBL· GenBank· DDBJ | AAH23545.1 EMBL· GenBank· DDBJ | mRNA | ||
BC024212 EMBL· GenBank· DDBJ | AAH24212.2 EMBL· GenBank· DDBJ | mRNA | Different initiation |