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Q9H936 (GHC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial glutamate carrier 1

Short name=GC-1
Alternative name(s):
Glutamate/H(+) symporter 1
Solute carrier family 25 member 22
Gene names
Name:SLC25A22
Synonyms:GC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length323 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Potential.

Tissue specificity

Highly expressed in most tissues.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the mitochondrial carrier (TC 2.A.29) family. [View classification]

Contains 3 Solcar repeats.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 323323Mitochondrial glutamate carrier 1
PRO_0000090619

Regions

Transmembrane12 – 3221Helical; Name=1; Potential
Transmembrane62 – 8221Helical; Name=2; Potential
Transmembrane107 – 12721Helical; Name=3; Potential
Transmembrane189 – 20921Helical; Name=4; Potential
Transmembrane223 – 24321Helical; Name=5; Potential
Transmembrane292 – 31221Helical; Name=6; Potential
Repeat6 – 9388Solcar 1
Repeat101 – 214114Solcar 2
Repeat223 – 31290Solcar 3

Natural variations

Natural variant2061P → L in EIEE3. Ref.6
VAR_022737

Sequences

Sequence LengthMass (Da)Tools
Q9H936 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: D0E06FD88E5A3198

FASTA32334,470
        10         20         30         40         50         60 
MADKQISLPA KLINGGIAGL IGVTCVFPID LAKTRLQNQQ NGQRVYTSMS DCLIKTVRSE 

        70         80         90        100        110        120 
GYFGMYRGAA VNLTLVTPEK AIKLAANDFF RHQLSKDGQK LTLLKEMLAG CGAGTCQVIV 

       130        140        150        160        170        180 
TTPMEMLKIQ LQDAGRIAAQ RKILAAQGQL SAQGGAQPSV EAPAAPRPTA TQLTRDLLRS 

       190        200        210        220        230        240 
RGIAGLYKGL GATLLRDVPF SVVYFPLFAN LNQLGRPASE EKSPFYVSFL AGCVAGSAAA 

       250        260        270        280        290        300 
VAVNPCDVVK TRLQSLQRGV NEDTYSGILD CARKILRHEG PSAFLKGAYC RALVIAPLFG 

       310        320 
IAQVVYFLGI AESLLGLLQD PQA 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy."
Molinari F., Raas-Rothschild A., Rio M., Fiermonte G., Encha-Razavi F., Palmieri L., Palmieri F., Ben-Neriah Z., Kadhom N., Vekemans M., Attie-Bitach T., Munnich A., Rustin P., Colleaux L.
Am. J. Hum. Genet. 76:334-339(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EIEE3 LEU-206.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001177989.1. NM_001191060.1.
NP_001177990.1. NM_001191061.1.
NP_078974.1. NM_024698.5.
UniGeneHs.99486.

3D structure databases

ProteinModelPortalQ9H936.
SMRQ9H936. Positions 8-317.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122862. 13 interactions.
IntActQ9H936. 4 interactions.
STRING9606.ENSP00000322020.

Chemistry

DrugBankDB00142. L-Glutamic Acid.

Protein family/group databases

TCDB2.A.29.14.3. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSiteQ9H936.

Polymorphism databases

DMDM34222632.

Proteomic databases

PaxDbQ9H936.
PeptideAtlasQ9H936.
PRIDEQ9H936.

Protocols and materials databases

DNASU79751.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320230; ENSP00000322020; ENSG00000177542.
ENST00000531214; ENSP00000437236; ENSG00000177542.
GeneID79751.
KEGGhsa:79751.
UCSCuc001lri.3. human.

Organism-specific databases

CTD79751.
GeneCardsGC11M000785.
HGNCHGNC:19954. SLC25A22.
HPAHPA014662.
MIM609302. gene.
609304. phenotype.
neXtProtNX_Q9H936.
Orphanet1934. Early infantile epileptic encephalopathy.
1935. Early myoclonic encephalopathy.
PharmGKBPA134955826.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG276269.
HOGENOMHOG000168308.
HOVERGENHBG039469.
InParanoidQ9H936.
KOK15107.
OMAAQRKLMP.
PhylomeDBQ9H936.
TreeFamTF313209.

Gene expression databases

ArrayExpressQ9H936.
BgeeQ9H936.
CleanExHS_SLC25A22.
GenevestigatorQ9H936.

Family and domain databases

Gene3D1.50.40.10. 1 hit.
InterProIPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSPR00926. MITOCARRIER.
SUPFAMSSF103506. SSF103506. 1 hit.
PROSITEPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79751.
NextBio69195.
PROQ9H936.
SOURCESearch...

Entry information

Entry nameGHC1_HUMAN
AccessionPrimary (citable) accession number: Q9H936
Secondary accession number(s): A8K366 expand/collapse secondary AC list , C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8
Entry history
Integrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: March 1, 2001
Last modified: April 16, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM