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Protein

Mitochondrial glutamate carrier 1

Gene

SLC25A22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H+.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processSymport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-428643 Organic anion transporters

Protein family/group databases

TCDBi2.A.29.14.3 the mitochondrial carrier (mc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial glutamate carrier 1
Short name:
GC-1
Alternative name(s):
Glutamate/H(+) symporter 1
Solute carrier family 25 member 22
Gene namesi
Name:SLC25A22
Synonyms:GC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000177542.10
HGNCiHGNC:19954 SLC25A22
MIMi609302 gene
neXtProtiNX_Q9H936

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei12 – 32Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei62 – 82Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei107 – 127Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei189 – 209Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei223 – 243Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei292 – 312Helical; Name=6Sequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & 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.
See also OMIM:609304
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022737206P → L in EIEE3. 1 PublicationCorresponds to variant dbSNP:rs121918334EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi79751
MalaCardsiSLC25A22
MIMi609304 phenotype
OpenTargetsiENSG00000177542
Orphaneti1934 Early infantile epileptic encephalopathy
1935 Early myoclonic encephalopathy
293181 Malignant migrating partial seizures of infancy
PharmGKBiPA134955826

Chemistry databases

DrugBankiDB00142 L-Glutamic Acid

Polymorphism and mutation databases

BioMutaiSLC25A22
DMDMi34222632

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000906191 – 323Mitochondrial glutamate carrier 1Add BLAST323

Proteomic databases

EPDiQ9H936
MaxQBiQ9H936
PaxDbiQ9H936
PeptideAtlasiQ9H936
PRIDEiQ9H936
ProteomicsDBi81277
TopDownProteomicsiQ9H936

PTM databases

iPTMnetiQ9H936
PhosphoSitePlusiQ9H936
SwissPalmiQ9H936

Expressioni

Tissue specificityi

Highly expressed in most tissues.

Gene expression databases

BgeeiENSG00000177542 Expressed in 193 organ(s), highest expression level in cerebellar vermis
CleanExiHS_SLC25A22
ExpressionAtlasiQ9H936 baseline and differential
GenevisibleiQ9H936 HS

Organism-specific databases

HPAiHPA014662

Interactioni

Protein-protein interaction databases

BioGridi122862, 34 interactors
IntActiQ9H936, 36 interactors
MINTiQ9H936
STRINGi9606.ENSP00000322020

Structurei

3D structure databases

ProteinModelPortaliQ9H936
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati6 – 93Solcar 1Add BLAST88
Repeati101 – 214Solcar 2Add BLAST114
Repeati223 – 312Solcar 3Add BLAST90

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0750 Eukaryota
ENOG410Y240 LUCA
GeneTreeiENSGT00530000062944
HOGENOMiHOG000168308
HOVERGENiHBG039469
InParanoidiQ9H936
KOiK15107
OMAiRKLMPET
OrthoDBiEOG091G08GT
PhylomeDBiQ9H936
TreeFamiTF313209

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002067 Mit_carrier
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
PRINTSiPR00926 MITOCARRIER
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

Sequence (1+)i

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
« Hide
        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
Length:323
Mass (Da):34,470
Last modified:March 1, 2001 - v1
Checksum:iD0E06FD88E5A3198
GO

Computationally mapped potential isoform sequencesi

There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PI74E9PI74_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
127Annotation score:
K4DIB6K4DIB6_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
156Annotation score:
E9PS95E9PS95_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
196Annotation score:
K4DIB0K4DIB0_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
103Annotation score:
K4DIA8K4DIA8_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
190Annotation score:
K4DIB8K4DIB8_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
177Annotation score:
E9PQ36E9PQ36_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
134Annotation score:
K4DIB3K4DIB3_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
161Annotation score:
K4DIA2K4DIA2_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
114Annotation score:
E9PJH7E9PJH7_HUMAN
Mitochondrial glutamate carrier 1
SLC25A22
313Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAH24212 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022737206P → 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.
CCDSiCCDS7715.1
RefSeqiNP_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
UniGeneiHs.99486

Genome annotation databases

EnsembliENST00000320230; ENSP00000322020; ENSG00000177542
ENST00000531214; ENSP00000437236; ENSG00000177542
ENST00000628067; ENSP00000486058; ENSG00000177542
GeneIDi79751
KEGGihsa:79751
UCSCiuc001lri.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.
CCDSiCCDS7715.1
RefSeqiNP_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
UniGeneiHs.99486

3D structure databases

ProteinModelPortaliQ9H936
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122862, 34 interactors
IntActiQ9H936, 36 interactors
MINTiQ9H936
STRINGi9606.ENSP00000322020

Chemistry databases

DrugBankiDB00142 L-Glutamic Acid

Protein family/group databases

TCDBi2.A.29.14.3 the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ9H936
PhosphoSitePlusiQ9H936
SwissPalmiQ9H936

Polymorphism and mutation databases

BioMutaiSLC25A22
DMDMi34222632

Proteomic databases

EPDiQ9H936
MaxQBiQ9H936
PaxDbiQ9H936
PeptideAtlasiQ9H936
PRIDEiQ9H936
ProteomicsDBi81277
TopDownProteomicsiQ9H936

Protocols and materials databases

DNASUi79751
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320230; ENSP00000322020; ENSG00000177542
ENST00000531214; ENSP00000437236; ENSG00000177542
ENST00000628067; ENSP00000486058; ENSG00000177542
GeneIDi79751
KEGGihsa:79751
UCSCiuc001lri.3 human

Organism-specific databases

CTDi79751
DisGeNETi79751
EuPathDBiHostDB:ENSG00000177542.10
GeneCardsiSLC25A22
HGNCiHGNC:19954 SLC25A22
HPAiHPA014662
MalaCardsiSLC25A22
MIMi609302 gene
609304 phenotype
neXtProtiNX_Q9H936
OpenTargetsiENSG00000177542
Orphaneti1934 Early infantile epileptic encephalopathy
1935 Early myoclonic encephalopathy
293181 Malignant migrating partial seizures of infancy
PharmGKBiPA134955826
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0750 Eukaryota
ENOG410Y240 LUCA
GeneTreeiENSGT00530000062944
HOGENOMiHOG000168308
HOVERGENiHBG039469
InParanoidiQ9H936
KOiK15107
OMAiRKLMPET
OrthoDBiEOG091G08GT
PhylomeDBiQ9H936
TreeFamiTF313209

Enzyme and pathway databases

ReactomeiR-HSA-428643 Organic anion transporters

Miscellaneous databases

GenomeRNAii79751
PROiPR:Q9H936
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177542 Expressed in 193 organ(s), highest expression level in cerebellar vermis
CleanExiHS_SLC25A22
ExpressionAtlasiQ9H936 baseline and differential
GenevisibleiQ9H936 HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002067 Mit_carrier
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
PRINTSiPR00926 MITOCARRIER
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiGHC1_HUMAN
AccessioniPrimary (citable) accession number: Q9H936
Secondary accession number(s): A8K366
, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: March 1, 2001
Last modified: October 10, 2018
This is version 158 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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