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Details on Person UniProt:Q9BX79 STRA6
| Class:Id | ReferenceGeneProduct:249777 |
|---|---|
| _chainChangeLog | chain:1-667 added on Fri February 6 2015 |
| _displayName | UniProt:Q9BX79 STRA6 |
| _timestamp | 2024-11-03 19:54:10 |
| chain | chain:1-667 |
| checksum | D20840A46998BA2E |
| comment | 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).SUBUNIT Homodimer (By similarity). Interacts with JAK2 and STAT5 (PubMed:21368206). Interacts (via extracellular domains) with RBP4 (PubMed:22665496). Interacts (via cytoplasmic domains) with RBP1 (PubMed:22665496).INTERACTION In the retinal pigment epithelium localizes to the basolateral membrane.ALTERNATIVE PRODUCTS Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris.INDUCTION Up-regulated in the colorectal cancer cell line WiDr by the administration of retinoic acid and in tumors with frequent defects in Wnt-1 signaling.DOMAIN Contrary to predictions, contains nine transmembrane helices, with an extracellular N-terminus and a cytoplasmic C-terminus (By similarity). Besides, contains one long helix that dips into the membrane and then runs more or less parallel to the membrane surface (By similarity).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).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Extended N-terminus. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Receptor for retinol uptake STRA6 alternativeName: fullName evidence="24 26"Retinol-binding protein receptor STRA6 alternativeName: Stimulated by retinoic acid gene 6 protein homolog |
| geneName | STRA6 PP14296 UNQ3126/PRO10282/PRO19578 |
| identifier | Q9BX79 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cell membrane Disease variant Glycoprotein Membrane Microphthalmia Phosphoprotein Proteomics identification Receptor Reference proteome Retinol-binding Transmembrane Transmembrane helix Transport Vitamin A |
| modified | [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:2455454] Weiser, JD [InstanceEdit:3445779] Weiser, JD [InstanceEdit:4341137] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:8987656] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9657908] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9715482] Weiser, JD [InstanceEdit:9750299] Weiser, JD [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | STRA6 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8991006] ENSEMBL:ENSG00000137868 STRA6 [Homo sapiens] |
| secondaryIdentifier | STRA6_HUMAN A8K7F1 B7Z5M9 B7Z862 D3DW54 F5GYI8 I3L1G8 Q6PJF8 Q71RB9 Q7L9G1 Q7Z3U9 Q8TB21 Q9BX78 Q9H9U8 |
| sequenceLength | 667 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:249778] UniProt:Q9BX79-2 STRA6 [Homo sapiens] [ReferenceIsoform:249779] UniProt:Q9BX79-3 STRA6 [Homo sapiens] [ReferenceIsoform:249780] UniProt:Q9BX79-4 STRA6 [Homo sapiens] [ReferenceIsoform:413477] UniProt:Q9BX79-1 STRA6 [Homo sapiens] [ReferenceIsoform:8975356] UniProt:Q9BX79-5 STRA6 [Homo sapiens] [ReferenceIsoform:8975357] UniProt:Q9BX79-6 STRA6 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:2453821] STRA6 T321P [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2453826] STRA6 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2453830] STRA6 T644M [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2453841] STRA6 P293L [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2453845] STRA6 R655C [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2453853] STRA6 P90L [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2453887] STRA6 W23* [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:2453810] L-threonine 644 replaced with L-methionine [ReplacedResidue:2453828] L-proline 90 replaced with L-leucine [ReplacedResidue:2453867] L-proline 293 replaced with L-leucine [NonsenseMutation:2453868] Nonsense mutation at L-tryptophan 23 [ReplacedResidue:2453880] L-threonine 321 replaced with L-proline [ReplacedResidue:2453908] L-arginine 655 replaced with L-cysteine |
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No pathways have been reviewed or authored by UniProt:Q9BX79 STRA6 (249777)
