SLC7A6OS
entrez
84138
canonical
uniprot
Q96CW6
canonical
ensembl
ENSG00000103061
resolver
ensp
ENSP00000263997
resolver
ensp
ENSP00000644448
resolver
enst
ENST00000263997
resolver
genesymbol
SLC7A6OS
resolver
hgnc
HGNC:25807
resolver
uniprot
Q8TCZ3
resolver
uniprot
Q9H8R8
resolver
uniprot_entry
S7A6O_HUMAN
resolver
uniprot_sec
Q8TCZ3
resolver
uniprot_sec
Q9H8R8
resolver
amino_acid_sequence
MEAARTAVLRVKRKRSAEPAEALVLACKRLRSDAVESAAQKTSEGLERAAENNVFHLVATVCSQEEPVQPLLREVLRPSRDSQQRVRRNLRASAREVRQEGRYRVLSSRRSLGTTSSGQESEYTPGNPEAAGNSGFQLLDLVHEEGEPEAASAGSCKTSDPDVILCNSVELIRERLTVSEDGPGVRRQEEQKHDDYVYDIYYLETATPGWIENILSVQPYSQEWELVNDDQEPEDIYDDEDDENSENNWRNEYPEEESSDGDEDSRGSADYNSLSEEERGSSRQRMWSKYPLDVQKEFGYDSPHDLDSD
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, progressive myoclonic 12 (EPM12) [MIM:619191]: A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM12 is an autosomal recessive form characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety. {ECO:0000269|PubMed:33085104}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Directs RNA polymerase II nuclear import. {ECO:0000250}.
uniprot
proteins
mass_dalton
35028
uniprot
proteins
protein_family
IWR1/SLC7A6OS family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15640104
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21504834
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
33085104
uniprot
proteins
sequence_length
309
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
uniprot
proteins