SLC7A14
entrez
57709
canonical
uniprot
Q8TBB6
canonical
ensembl
ENSG00000013293
resolver
ensp
ENSP00000231706
resolver
enst
ENST00000231706
resolver
genesymbol
SLC7A14
resolver
genesymbol_syn
KIAA1613
resolver
hgnc
HGNC:29326
resolver
uniprot
B3KV33
resolver
uniprot
Q9HCF9
resolver
uniprot_entry
S7A14_HUMAN
resolver
uniprot_sec
B3KV33
resolver
uniprot_sec
Q9HCF9
resolver
amino_acid_sequence
MSGFFTSLDPRRVQWGAAWYAMHSRILRTKPVESMLEGTGTTTAHGTKLAQVLTTVDLISLGVGSCVGTGMYVVSGLVAKEMAGPGVIVSFIIAAVASILSGVCYAEFGVRVPKTTGSAYTYSYVTVGEFVAFFIGWNLILEYLIGTAAGASALSSMFDSLANHTISRWMADSVGTLNGLGKGEESYPDLLALLIAVIVTIIVALGVKNSIGFNNVLNVLNLAVWVFIMIAGLFFINGKYWAEGQFLPHGWSGVLQGAATCFYAFIGFDIIATTGEEAKNPNTSIPYAITASLVICLTAYVSVSVILTLMVPYYTIDTESPLMEMFVAHGFYAAKFVVAIGSVAGLTVSLLGSLFPMPRVIYAMAGDGLLFRFLAHVSSYTETPVVACIVSGFLAALLALLVSLRDLIEMMSIGTLLAYTLVSVCVLLLRYQPESDIDGFVKFLSEEHTKKKEGILADCEKEACSPVSEGDEFSGPATNTCGAKNLPSLGDNEMLIGKSDKSTYNVNHPNYGTVDMTTGIEADESENIYLIKLKKLIGPHYYTMRIRLGLPGKMDRPTAATGHTVTICVLLLFILMFIFCSFIIFGSDYISEQSWWAILLVVLMVLLISTLVFVILQQPENPKKLPYMAPCLPFVPAFAMLVNIYLMLKLSTITWIRFAVWCFVGLLIYFGYGIWNSTLEISAREEALHQSTYQRYDVDDPFSVEEGFSYATEGESQEDWGGPTEDKGFYYQQMSDAKANGRTSSKAKSKSKHKQNSEALIANDELDYSPE
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 68 (RP68) [MIM:615725]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:24670872}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Imports 4-aminobutanoate (GABA) into lysosomes. May act as a GABA sensor that regulates mTORC2-dependent INS signaling and gluconeogenesis. The transport mechanism and substrate selectivity remain to be elucidated. {ECO:0000250|UniProtKB:Q8BXR1}.
uniprot
proteins
mass_dalton
84052
uniprot
proteins
protein_family
Amino acid-polyamine-organocation (APC) superfamily
uniprot
proteins
protein_family
Cationic amino acid transporter (CAT) (TC 2.A.3.3) family
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
22787143
uniprot
proteins
pubmed
24670872
uniprot
proteins
sequence_length
771
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:22787143, ECO:0000269|PubMed:24670872}; Multi-pass membrane protein {ECO:0000255}. Note=Exhibits a punctated pattern in the cytoplasm, which partially ovelaps with lysosomes. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 58..78; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 83..103; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 119..141; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 187..207; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 216..236; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 251..271; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 291..311; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 336..356; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 360..380; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 384..404; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 407..427; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 565..585; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 596..616; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 628..648; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 655..675; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins