Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9H936

- GHC1_HUMAN

UniProt

Q9H936 - GHC1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Mitochondrial glutamate carrier 1

Gene

SLC25A22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. L-glutamate transmembrane transporter activity Source: UniProtKB
  2. symporter activity Source: UniProtKB-KW

GO - Biological processi

  1. L-glutamate transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Symport, Transport

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:19954. SLC25A22.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: UniProtKB
  3. mitochondrion Source: HPA
  4. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti206 – 2061P → L in EIEE3. 1 Publication
VAR_022737

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 323323Mitochondrial glutamate carrier 1PRO_0000090619Add
BLAST

Proteomic databases

MaxQBiQ9H936.
PaxDbiQ9H936.
PeptideAtlasiQ9H936.
PRIDEiQ9H936.

PTM databases

PhosphoSiteiQ9H936.

Expressioni

Tissue specificityi

Highly expressed in most tissues.

Gene expression databases

BgeeiQ9H936.
CleanExiHS_SLC25A22.
ExpressionAtlasiQ9H936. baseline.
GenevestigatoriQ9H936.

Organism-specific databases

HPAiHPA014662.

Interactioni

Protein-protein interaction databases

BioGridi122862. 18 interactions.
IntActiQ9H936. 5 interactions.
STRINGi9606.ENSP00000322020.

Structurei

3D structure databases

ProteinModelPortaliQ9H936.
SMRiQ9H936. Positions 8-287.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei12 – 3221Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei62 – 8221Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei107 – 12721Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei189 – 20921Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei223 – 24321Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei292 – 31221Helical; Name=6Sequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati6 – 9388Solcar 1Add
BLAST
Repeati101 – 214114Solcar 2Add
BLAST
Repeati223 – 31290Solcar 3Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG276269.
GeneTreeiENSGT00530000062944.
HOGENOMiHOG000168308.
HOVERGENiHBG039469.
InParanoidiQ9H936.
KOiK15107.
OMAiAQRKLMP.
PhylomeDBiQ9H936.
TreeFamiTF313209.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Sequence cautioni

The sequence AAH24212.2 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti206 – 2061P → L in EIEE3. 1 Publication
VAR_022737

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGeneiHs.99486.

Genome annotation databases

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

Polymorphism databases

DMDMi34222632.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.99486.

3D structure databases

ProteinModelPortali Q9H936.
SMRi Q9H936. Positions 8-287.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122862. 18 interactions.
IntActi Q9H936. 5 interactions.
STRINGi 9606.ENSP00000322020.

Protein family/group databases

TCDBi 2.A.29.14.3. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei Q9H936.

Polymorphism databases

DMDMi 34222632.

Proteomic databases

MaxQBi Q9H936.
PaxDbi Q9H936.
PeptideAtlasi Q9H936.
PRIDEi Q9H936.

Protocols and materials databases

DNASUi 79751.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320230 ; ENSP00000322020 ; ENSG00000177542 .
ENST00000531214 ; ENSP00000437236 ; ENSG00000177542 .
GeneIDi 79751.
KEGGi hsa:79751.
UCSCi uc001lri.3. human.

Organism-specific databases

CTDi 79751.
GeneCardsi GC11M000791.
HGNCi HGNC:19954. SLC25A22.
HPAi HPA014662.
MIMi 609302. gene.
609304. phenotype.
neXtProti NX_Q9H936.
Orphaneti 1934. Early infantile epileptic encephalopathy.
1935. Early myoclonic encephalopathy.
293181. Malignant migrating partial seizures of infancy.
PharmGKBi PA134955826.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG276269.
GeneTreei ENSGT00530000062944.
HOGENOMi HOG000168308.
HOVERGENi HBG039469.
InParanoidi Q9H936.
KOi K15107.
OMAi AQRKLMP.
PhylomeDBi Q9H936.
TreeFami TF313209.

Miscellaneous databases

GenomeRNAii 79751.
NextBioi 69195.
PROi Q9H936.
SOURCEi Search...

Gene expression databases

Bgeei Q9H936.
CleanExi HS_SLC25A22.
ExpressionAtlasi Q9H936. baseline.
Genevestigatori Q9H936.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
InterProi IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
PRINTSi PR00926. MITOCARRIER.
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms."
    Fiermonte G., Palmieri L., Todisco S., Agrimi G., Palmieri F., Walker J.E.
    J. Biol. Chem. 277:19289-19294(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung, Muscle and Skin.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: VARIANT EIEE3 LEU-206.

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 historyi
Integrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 123 of the entry and version 1 of the sequence. [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 chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3