STRA6
Receptor for retinol uptake STRA6
Also known as: FLJ12541, STRA6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BX79
- Gene
- STRA6
- Ensembl
- ENSG00000137868
- Chromosome
- 15
- Canonical length
- 667 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Canonical amino-acid sequenceUniProt
667 residues, UniProt reviewed canonical sequence.
>Q9BX79|STRA6
1 MSSQPAGNQT SPGATEDYSY GSWYIDEPQG GEELQPEGEV PSCHTSIPPG LYHACLASLS
61 ILVLLLLAML VRRRQLWPDC VRGRPGLPSP VDFLAGDRPR AVPAAVFMVL LSSLCLLLPD
121 EDALPFLTLA SAPSQDGKTE APRGAWKILG LFYYAALYYP LAACATAGHT AAHLLGSTLS
181 WAHLGVQVWQ RAECPQVPKI YKYYSLLASL PLLLGLGFLS LWYPVQLVRS FSRRTGAGSK
241 GLQSSYSEEY LRNLLCRKKL GSSYHTSKHG FLSWARVCLR HCIYTPQPGF HLPLKLVLSA
301 TLTGTAIYQV ALLLLVGVVP TIQKVRAGVT TDVSYLLAGF GIVLSEDKQE VVELVKHHLW
361 ALEVCYISAL VLSCLLTFLV LMRSLVTHRT NLRALHRGAA LDLSPLHRSP HPSRQAIFCW
421 MSFSAYQTAF ICLGLLVQQI IFFLGTTALA FLVLMPVLHG RNLLLFRSLE SSWPFWLTLA
481 LAVILQNMAA HWVFLETHDG HPQLTNRRVL YAATFLLFPL NVLVGAMVAT WRVLLSALYN
541 AIHLGQMDLS LLPPRAATLD PGYYTYRNFL KIEVSQSHPA MTAFCSLLLQ AQSLLPRTMA
601 APQDSLRPGE EDEGMQLLQT KDSMAKGARP GASRGRARWG LAYTLLHNPT LQVFRKTALL
661 GANGAQPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against STRA6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 9
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- cervix: 22 nTPM
- placenta: 7.1 nTPM
- pituitary gland: 5.7 nTPM
- prostate: 5.7 nTPM
- endometrium: 5.2 nTPM
- fallopian tube: 4.2 nTPM
Single-cell type
- papillary tip epithelial cells: 29 nCPM
- proximal tubule cells: 21 nCPM
- retinal pigment epithelial cells: 4.3 nCPM
- endometrial stromal cells: 2.1 nCPM
- podocytes: 2.1 nCPM
- renal collecting duct principal cells: 1.9 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 1 nTPM
- thalamus: 0.8 nTPM
- cerebral cortex: 0.7 nTPM
- amygdala: 0.2 nTPM
- hippocampal formation: 0.2 nTPM
- hypothalamus: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about STRA6.
Disease | AllUniProt
Conditions STRA6 is implicated in, by any mechanism.
- Microphthalmia, syndromic, 9 (MCOPS9) MIM:601186
Disease | GeneticClinVar
34 pathogenic / likely-pathogenic of 358 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Matthew-Wood syndrome
- Anophthalmia-microphthalmia syndrome
- Microphthalmia, isolated, with coloboma 8
- Malignant tumor of esophagus
- Microphthalmia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.82
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.6
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adrenal gland development
- artery morphogenesis
- blood vessel development
- camera-type eye development
- cognition
- developmental growth
- diaphragm development
- digestive tract morphogenesis
- ductus arteriosus closure
- ear development
- embryonic camera-type eye formation
- embryonic digestive tract development
- eyelid development in camera-type eye
- face morphogenesis
- feeding behavior
- female genitalia development
- head development
- head morphogenesis
- heart development
- kidney development
- learning
- lung alveolus development
- lung development
- lung vasculature development
- neuromuscular process
- nose morphogenesis
- paramesonephric duct development
- pulmonary artery morphogenesis
- pulmonary valve morphogenesis
- retinol transport
- smooth muscle tissue development
- uterus morphogenesis
- ventricular septum development
- vitamin A import into cell
- vocal learning
- alveolar primary septum development
- positive regulation of behavior
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Receptor for retinol uptake STRA6-like
- Retinol binding protein receptor
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of STRA6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads STRA6 as an antibody target. Whether an autoantibody or antibody against STRA6 could matter depends on whether native STRA6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
STRA6 is annotated at the cell surface, where native STRA6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label STRA6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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