InnateDB Protein
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IDBP-21878.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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STRA6
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Protein Name
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stimulated by retinoic acid gene 6 homolog (mouse)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000326085
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InnateDB Gene
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IDBG-21876 (STRA6)
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Protein Structure
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Function |
May act as a high-affinity cell-surface receptor for the complex retinol-retinol binding protein (RBP/RBP4). Acts by removing retinol from RBP/RBP4 and transports it across the plasma membrane, where it can be metabolized. This mechanism does not depend on endocytosis. Binds to RBP/RBP4 with high affinity. Increases cellular retinol uptake from the retinol-RBP complex (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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Disease Associations |
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:0000269PubMed:17273977, ECO:0000269PubMed:17503335, ECO:0000269PubMed:21901792}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe.
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Tissue Specificity |
Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris. {ECO:0000269PubMed:17273977}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BX79
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PhosphoSite |
PhosphoSite-Q9BX79
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TrEMBL |
I3L0M6
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UniProt Splice Variant |
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Entrez Gene |
64220
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UniGene |
Hs.24553
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RefSeq |
NP_001136089
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HUGO |
HGNC:30650
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OMIM |
610745
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CCDS |
CCDS10261
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HPRD |
18122
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IMGT |
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EMBL |
AC023545
AF352728
AF352729
AF370419
AK022603
AK291966
AK299191
AK302932
AY358748
AY359089
BC015881
BC025256
BX537413
CH471136
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GenPept |
AAH15881
AAH25256
AAK30289
AAK30290
AAQ15255
AAQ89108
AAQ89447
BAB14122
BAF84655
BAH12965
BAH13848
CAD97655
EAW99353
EAW99356
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