Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(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)

Q9H936

- GHC1_HUMAN

UniProt

Q9H936 - GHC1_HUMAN

Protein

Mitochondrial glutamate carrier 1

Gene

SLC25A22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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

    ArrayExpressiQ9H936.
    BgeeiQ9H936.
    CleanExiHS_SLC25A22.
    GenevestigatoriQ9H936.

    Organism-specific databases

    HPAiHPA014662.

    Interactioni

    Protein-protein interaction databases

    BioGridi122862. 14 interactions.
    IntActiQ9H936. 5 interactions.
    STRINGi9606.ENSP00000322020.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H936.
    SMRiQ9H936. Positions 4-315.
    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.
    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

    MADKQISLPA KLINGGIAGL IGVTCVFPID LAKTRLQNQQ NGQRVYTSMS    50
    DCLIKTVRSE GYFGMYRGAA VNLTLVTPEK AIKLAANDFF RHQLSKDGQK 100
    LTLLKEMLAG CGAGTCQVIV TTPMEMLKIQ LQDAGRIAAQ RKILAAQGQL 150
    SAQGGAQPSV EAPAAPRPTA TQLTRDLLRS RGIAGLYKGL GATLLRDVPF 200
    SVVYFPLFAN LNQLGRPASE EKSPFYVSFL AGCVAGSAAA VAVNPCDVVK 250
    TRLQSLQRGV NEDTYSGILD CARKILRHEG PSAFLKGAYC RALVIAPLFG 300
    IAQVVYFLGI AESLLGLLQD PQA 323
    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 4-315.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122862. 14 interactions.
    IntActi Q9H936. 5 interactions.
    STRINGi 9606.ENSP00000322020.

    Chemistry

    DrugBanki DB00142. L-Glutamic Acid.

    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 GC11M000785.
    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.
    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

    ArrayExpressi Q9H936.
    Bgeei Q9H936.
    CleanExi HS_SLC25A22.
    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

    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 1, 2014
    This is version 122 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