SLC25A22
entrez
79751
canonical
uniprot
Q9H936
canonical
ensembl
ENSG00000177542
resolver
ensp
ENSP00000322020
resolver
ensp
ENSP00000437236
resolver
ensp
ENSP00000486058
resolver
ensp
ENSP00000530143
resolver
ensp
ENSP00000530144
resolver
ensp
ENSP00000530145
resolver
ensp
ENSP00000530146
resolver
ensp
ENSP00000530147
resolver
ensp
ENSP00000530148
resolver
ensp
ENSP00000530150
resolver
ensp
ENSP00000530151
resolver
ensp
ENSP00000530153
resolver
ensp
ENSP00000607682
resolver
ensp
ENSP00000607683
resolver
ensp
ENSP00000607685
resolver
ensp
ENSP00000607686
resolver
ensp
ENSP00000607687
resolver
ensp
ENSP00000607689
resolver
ensp
ENSP00000607690
resolver
ensp
ENSP00000607691
resolver
ensp
ENSP00000618588
resolver
ensp
ENSP00000618589
resolver
ensp
ENSP00000618592
resolver
ensp
ENSP00000751716
resolver
enst
ENST00000320230
resolver
enst
ENST00000531214
resolver
enst
ENST00000628067
resolver
enst
ENST00000860084
resolver
enst
ENST00000860086
resolver
enst
ENST00000860088
resolver
enst
ENST00000860089
resolver
enst
ENST00000860091
resolver
enst
ENST00000860092
resolver
enst
ENST00000860094
resolver
enst
ENST00000937623
resolver
enst
ENST00000937624
resolver
enst
ENST00000937626
resolver
enst
ENST00000937627
resolver
enst
ENST00000937628
resolver
enst
ENST00000937630
resolver
enst
ENST00000937631
resolver
enst
ENST00000937632
resolver
enst
ENST00000948529
resolver
enst
ENST00000948530
resolver
enst
ENST00000948533
resolver
genesymbol
SLC25A22
resolver
genesymbol_syn
GC1
resolver
hgnc
HGNC:19954
resolver
uniprot
A8K366
resolver
uniprot
C9J1H6
resolver
uniprot
E9PJD3
resolver
uniprot
E9PKB2
resolver
uniprot
E9PL68
resolver
uniprot
E9PN26
resolver
uniprot
E9PNQ3
resolver
uniprot
E9PP01
resolver
uniprot
E9PR97
resolver
uniprot
Q8TBU8
resolver
uniprot_entry
GHC1_HUMAN
resolver
uniprot_sec
A8K366
resolver
uniprot_sec
C9J1H6
resolver
uniprot_sec
E9PJD3
resolver
uniprot_sec
E9PKB2
resolver
uniprot_sec
E9PL68
resolver
uniprot_sec
E9PN26
resolver
uniprot_sec
E9PNQ3
resolver
uniprot_sec
E9PP01
resolver
uniprot_sec
E9PR97
resolver
uniprot_sec
Q8TBU8
resolver
amino_acid_sequence
MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEKAIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSVEAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAAVAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQDPQA
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 3 (DEE3) [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. DEE3 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. {ECO:0000269|PubMed:15592994}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial glutamate/H(+) symporter. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (PubMed:11897791). Plays a role in the control of glucose-stimulated insulin secretion (By similarity). {ECO:0000250|UniProtKB:A0A0G2K5L2, ECO:0000269|PubMed:11897791}.
uniprot
proteins
mass_dalton
34470
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
11897791
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592994
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
323
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:A0A0G2K5L2}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..32; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 62..82; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 107..127; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 223..243; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 292..312; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins