STRA6
entrez
64220
canonical
uniprot
Q9BX79
canonical
ensembl
ENSG00000137868
resolver
ensembl
ENSG00000288257
resolver
ensp
ENSP00000326085
resolver
ensp
ENSP00000378537
resolver
ensp
ENSP00000407176
resolver
ensp
ENSP00000410221
resolver
ensp
ENSP00000413012
resolver
ensp
ENSP00000440238
resolver
ensp
ENSP00000456609
resolver
ensp
ENSP00000458827
resolver
ensp
ENSP00000479112
resolver
ensp
ENSP00000533914
resolver
genesymbol
STRA6
resolver
hgnc
HGNC:30650
resolver
uniprot
A8K7F1
resolver
uniprot
B3KPB8
resolver
uniprot
B7Z5M9
resolver
uniprot
B7Z862
resolver
uniprot
D3DW54
resolver
uniprot
F5GYI8
resolver
uniprot
I3L1G8
resolver
uniprot
Q6PJF8
resolver
uniprot
Q71RB9
resolver
uniprot
Q7L9G1
resolver
uniprot
Q7Z3U9
resolver
uniprot
Q8TB21
resolver
uniprot
Q9BX78
resolver
uniprot
Q9H9U8
resolver
uniprot_entry
B3KPB8_HUMAN
resolver
uniprot_entry
STRA6_HUMAN
resolver
uniprot_sec
A8K7F1
resolver
uniprot_sec
B7Z5M9
resolver
uniprot_sec
B7Z862
resolver
uniprot_sec
D3DW54
resolver
uniprot_sec
F5GYI8
resolver
uniprot_sec
I3L1G8
resolver
uniprot_sec
Q6PJF8
resolver
uniprot_sec
Q71RB9
resolver
uniprot_sec
Q7L9G1
resolver
uniprot_sec
Q7Z3U9
resolver
uniprot_sec
Q8TB21
resolver
uniprot_sec
Q9BX78
resolver
uniprot_sec
Q9H9U8
resolver
amino_acid_sequence
MSSQPAGNQTSPGATEDYSYGSWYIDEPQGGEELQPEGEVPSCHTSIPPGLYHACLASLSILVLLLLAMLVRRRQLWPDCVRGRPGLPSPVDFLAGDRPRAVPAAVFMVLLSSLCLLLPDEDALPFLTLASAPSQDGKTEAPRGAWKILGLFYYAALYYPLAACATAGHTAAHLLGSTLSWAHLGVQVWQRAECPQVPKIYKYYSLLASLPLLLGLGFLSLWYPVQLVRSFSRRTGAGSKGLQSSYSEEYLRNLLCRKKLGSSYHTSKHGFLSWARVCLRHCIYTPQPGFHLPLKLVLSATLTGTAIYQVALLLLVGVVPTIQKVRAGVTTDVSYLLAGFGIVLSEDKQEVVELVKHHLWALEVCYISALVLSCLLTFLVLMRSLVTHRTNLRALHRGAALDLSPLHRSPHPSRQAIFCWMSFSAYQTAFICLGLLVQQIIFFLGTTALAFLVLMPVLHGRNLLLFRSLESSWPFWLTLALAVILQNMAAHWVFLETHDGHPQLTNRRVLYAATFLLFPLNVLVGAMVATWRVLLSALYNAIHLGQMDLSLLPPRAATLDPGYYTYRNFLKIEVSQSHPAMTAFCSLLLQAQSLLPRTMAAPQDSLRPGEEDEGMQLLQTKDSMAKGARPGASRGRARWGLAYTLLHNPTLQVFRKTALLGANGAQP
uniprot
proteins
disease_involvement
DISEASE: Microphthalmia, syndromic, 9 (MCOPS9) [MIM:601186]: A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269|PubMed:17273977, ECO:0000269|PubMed:17503335, ECO:0000269|PubMed:21368206, ECO:0000269|PubMed:21901792}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe. {ECO:0000269|PubMed:21901792}.
uniprot
proteins
function
FUNCTION: Functions as a retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1 (PubMed:18316031, PubMed:22665496, PubMed:9452451). Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A (PubMed:18316031, PubMed:22665496). Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and its target STAT5, and ultimately increase the expression of SOCS3 and inhibit cellular responses to insulin (PubMed:21368206, PubMed:22665496). Important for the homeostasis of vitamin A and its derivatives, such as retinoic acid (PubMed:18316031). STRA6-mediated transport is particularly important in the eye, and under conditions of dietary vitamin A deficiency (Probable). Does not transport retinoic acid (PubMed:18316031). {ECO:0000269|PubMed:18316031, ECO:0000269|PubMed:21901792, ECO:0000269|PubMed:22665496, ECO:0000269|PubMed:9452451, ECO:0000305}.
uniprot
proteins
mass_dalton
73503
uniprot
proteins
mutagenesis
MUTAGEN 255; /note="L->A: Loss of interaction with RBP1."; /evidence="ECO:0000269|PubMed:22665496"; MUTAGEN 643; /note="Y->F: Loss of tyrosine phosphorylation."; /evidence="ECO:0000269|PubMed:21368206
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosine residues in response to RBP4 binding (PubMed:21368206, PubMed:22665496). Phosphorylation requires the presence of LRAT, suggesting it may be triggered by the uptake of retinol that is then metabolized within the cell to retinoids that function as signaling molecules (PubMed:22665496). {ECO:0000269|PubMed:21368206, ECO:0000269|PubMed:22665496}.
uniprot
proteins
pubmed
11358845
uniprot
proteins
pubmed
11832495
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17273977
uniprot
proteins
pubmed
17503335
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18316031
uniprot
proteins
pubmed
19112531
uniprot
proteins
pubmed
19309693
uniprot
proteins
pubmed
21368206
uniprot
proteins
pubmed
21901792
uniprot
proteins
pubmed
22665496
uniprot
proteins
pubmed
9452451
uniprot
proteins
sequence_length
667
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18316031, ECO:0000269|PubMed:21901792, ECO:0000269|PubMed:9452451}; Multi-pass membrane protein {ECO:0000305}. Note=In the retinal pigment epithelium localizes to the basolateral membrane. {ECO:0000250|UniProtKB:Q0V8E7}.
uniprot
proteins
transmembrane_region
TRANSMEM 51..71; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4"; TRANSMEM 101..121; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4"; TRANSMEM 145..165; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4"; TRANSMEM 169..189; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4"; TRANSMEM 206..226; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4"; TRANSMEM 296..316; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4"; TRANSMEM 368..388; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4"; TRANSMEM 423..443; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4"; TRANSMEM 474..494; /note="Helical"; /evidence="ECO:0000250|UniProtKB:F1RAX4
uniprot
proteins