SLC38A8
entrez
146167
canonical
uniprot
A6NNN8
canonical
ensembl
ENSG00000166558
resolver
ensp
ENSP00000299709
resolver
ensp
ENSP00000582242
resolver
ensp
ENSP00000616797
resolver
enst
ENST00000299709
resolver
enst
ENST00000912183
resolver
enst
ENST00000946738
resolver
genesymbol
SLC38A8
resolver
hgnc
HGNC:32434
resolver
uniprot_entry
S38A8_HUMAN
resolver
amino_acid_sequence
MEGQTPGSRGLPEKPHPATAAATLSSMGAVFILMKSALGAGLLNFPWAFSKAGGVVPAFLVELVSLVFLISGLVILGYAAAVSGQATYQGVVRGLCGPAIGKLCEACFLLNLLMISVAFLRVIGDQLEKLCDSLLSGTPPAPQPWYADQRFTLPLLSVLVILPLSAPREIAFQKYTSILGTLAACYLALVITVQYYLWPQGLVRESHPSLSPASWTSVFSVFPTICFGFQCHEAAVSIYCSMRKRSLSHWALVSVLSLLACCLIYSLTGVYGFLTFGTEVSADVLMSYPGNDMVIIVARVLFAVSIVTVYPIVLFLGRSVMQDFWRRSCLGGWGPSALADPSGLWVRMPLTILWVTVTLAMALFMPDLSEIVSIIGGISSFFIFIFPGLCLICAMGVEPIGPRVKCCLEVWGVVSVLVGTFIFGQSTAAAVWEMF
uniprot
proteins
disease_involvement
DISEASE: Foveal hypoplasia 2 (FVH2) [MIM:609218]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients. {ECO:0000269|PubMed:24045842, ECO:0000269|PubMed:24290379}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Electrogenic sodium-dependent amino acid transporter with a preference for L-glutamine, L-alanine, L-histidine, L-aspartate and L-arginine. May facilitate glutamine uptake in both excitatory and inhibitory neurons. The transport mechanism and stoichiometry remain to be elucidated. {ECO:0000250|UniProtKB:Q5HZH7}.
uniprot
proteins
mass_dalton
46731
uniprot
proteins
protein_family
Amino acid/polyamine transporter 2 family
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
24045842
uniprot
proteins
pubmed
24290379
uniprot
proteins
sequence_length
435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q5HZH7}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q5HZH7}. Cell projection, axon {ECO:0000250|UniProtKB:Q5HZH7}.
uniprot
proteins
transmembrane_region
TRANSMEM 29..49; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 55..75; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..120; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 151..171; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 178..198; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 218..240; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 250..270; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 295..315; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 348..368; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 374..394; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 410..430; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins