Q9H936 (GHC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	323 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Symport Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Disease	Disease mutation Epilepsy
Domain	Repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Inferred from direct assay Ref.1. Source: UniProtKB nucleus Inferred from direct assay. Source: HPA
Molecular_function	L-glutamate transmembrane transporter activity Inferred from direct assay Ref.1. Source: UniProtKB symporter activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 323	323	Mitochondrial glutamate carrier 1		PRO_0000090619
Regions
	Transmembrane	12 – 32	21	Helical; Name=1; Potential
	Transmembrane	62 – 82	21	Helical; Name=2; Potential
	Transmembrane	107 – 127	21	Helical; Name=3; Potential
	Transmembrane	189 – 209	21	Helical; Name=4; Potential
	Transmembrane	223 – 243	21	Helical; Name=5; Potential
	Transmembrane	292 – 312	21	Helical; Name=6; Potential
	Repeat	6 – 93	88	Solcar 1
	Repeat	101 – 214	114	Solcar 2
	Repeat	223 – 312	90	Solcar 3
Natural variations
	Natural variant	206	1	P → L in EIEE3. Ref.6		VAR_022737

Sequences

	Sequence		Length	Mass (Da)
	Q9H936 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: D0E06FD88E5A3198	FASTA	323	34,470
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00003004.
RefSeq	NP_001177989.1. NM_001191060.1. NP_001177990.1. NM_001191061.1. NP_078974.1. NM_024698.5.
UniGene	Hs.99486.
3D structure databases
ProteinModelPortal	Q9H936.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H936. 4 interactions.
STRING	9606.ENSP00000322020.
Protein family/group databases
TCDB	2.A.29.14.3. mitochondrial carrier (MC) family.
PTM databases
PhosphoSite	Q9H936.
Polymorphism databases
DMDM	34222632.
Proteomic databases
PaxDb	Q9H936.
PeptideAtlas	Q9H936.
PRIDE	Q9H936.
Protocols and materials databases
DNASU	79751.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320230; ENSP00000322020; ENSG00000177542. ENST00000531214; ENSP00000437236; ENSG00000177542.
GeneID	79751.
KEGG	hsa:79751.
UCSC	uc001lri.3. human.
Organism-specific databases
CTD	79751.
GeneCards	GC11M000785.
HGNC	HGNC:19954. SLC25A22.
HPA	HPA014662.
MIM	609302. gene. 609304. phenotype.
neXtProt	NX_Q9H936.
Orphanet	1934. Early infantile epileptic encephalopathy. 1935. Early myoclonic encephalopathy.
PharmGKB	PA134955826.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG276269.
HOGENOM	HOG000168308.
HOVERGEN	HBG039469.
InParanoid	Q9H936.
KO	K15107.
OMA	KSPTAMQ.
OrthoDB	EOG49CQ83.
Gene expression databases
ArrayExpress	Q9H936.
Bgee	Q9H936.
CleanEx	HS_SLC25A22.
Genevestigator	Q9H936.
GermOnline	ENSG00000177542. Homo sapiens.
Family and domain databases
Gene3D	1.50.40.10. 1 hit.
InterPro	IPR002067. Mit_carrier. IPR018108. Mitochondrial_sb/sol_carrier. IPR023395. Mt_carrier_dom. [Graphical view]
Pfam	PF00153. Mito_carr. 3 hits. [Graphical view]
PRINTS	PR00926. MITOCARRIER.
SUPFAM	SSF103506. Mitoch_carrier. 1 hit.
PROSITE	PS50920. SOLCAR. 3 hits. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00142. L-Glutamic Acid.
GenomeRNAi	79751.
NextBio	69195.
SOURCE	Search...

Entry information

Entry name

GHC1_HUMAN

Accession

Primary (citable) accession number: Q9H936
Secondary accession number(s): A8K366 , 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:	May 1, 2013
This is version 108 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.