• Gene id: 64220

Gene Summary

• Gene Symbol: STRA6   Gene   UCSC   Ensembl
• Aliases: MCOPCB8, MCOPS9, PP14296
• Gene name: signaling receptor and transporter of retinol STRA6
• Alternate names: receptor for retinol uptake STRA6, RBP receptor, retinol binding protein 4 receptor, retinol-binding protein receptor STRA6, stimulated by retinoic acid 6 homolog, stimulated by retinoic acid gene 6 homolog, stimulated by retinoic acid gene 6 protein homolog,
• Gene location: 15q24.1 (74212266: 74179465)     Exons: 26     NC_000015.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q9BX79  
  • Name: Receptor for retinol uptake STRA6 (Retinol binding protein receptor STRA6) (Stimulated by retinoic acid gene 6 protein homolog)
  • Length: 667  
  • Mass: 73503
  • Tissue specificity: Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris. {ECO
• Sequence:

  MSSQPAGNQTSPGATEDYSYGSWYIDEPQGGEELQPEGEVPSCHTSIPPGLYHACLASLSILVLLLLAMLVRRRQ
  LWPDCVRGRPGLPSPVDFLAGDRPRAVPAAVFMVLLSSLCLLLPDEDALPFLTLASAPSQDGKTEAPRGAWKILG
  LFYYAALYYPLAACATAGHTAAHLLGSTLSWAHLGVQVWQRAECPQVPKIYKYYSLLASLPLLLGLGFLSLWYPV
  QLVRSFSRRTGAGSKGLQSSYSEEYLRNLLCRKKLGSSYHTSKHGFLSWARVCLRHCIYTPQPGFHLPLKLVLSA
  TLTGTAIYQVALLLLVGVVPTIQKVRAGVTTDVSYLLAGFGIVLSEDKQEVVELVKHHLWALEVCYISALVLSCL
  LTFLVLMRSLVTHRTNLRALHRGAALDLSPLHRSPHPSRQAIFCWMSFSAYQTAFICLGLLVQQIIFFLGTTALA
  FLVLMPVLHGRNLLLFRSLESSWPFWLTLALAVILQNMAAHWVFLETHDGHPQLTNRRVLYAATFLLFPLNVLVG
  AMVATWRVLLSALYNAIHLGQMDLSLLPPRAATLDPGYYTYRNFLKIEVSQSHPAMTAFCSLLLQAQSLLPRTMA
  APQDSLRPGEEDEGMQLLQTKDSMAKGARPGASRGRARWGLAYTLLHNPTLQVFRKTALLGANGAQP

• Structural information:
  • Interpro: IPR026612  
  • STRING: ENSP00000456609
• Other Databases: GeneCards:  STRA6  Malacards:  STRA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071939	vitamin A import	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0060325	face morphogenesis	IMP	biological process
GO:0001822	kidney development	IMP	biological process
GO:0061029	eyelid development in camera-type eye	IMP	biological process
GO:0060323	head morphogenesis	IMP	biological process
GO:0061143	alveolar primary septum development	IMP	biological process
GO:0048745	smooth muscle tissue development	IMP	biological process
GO:0048520	positive regulation of behavior	IMP	biological process
GO:0060539	diaphragm development	IMP	biological process
GO:0050905	neuromuscular process	IMP	biological process
GO:0030325	adrenal gland development	IMP	biological process
GO:0097070	ductus arteriosus closure	IMP	biological process
GO:0003184	pulmonary valve morphogenesis	IMP	biological process
GO:0060322	head development	IMP	biological process
GO:0043585	nose morphogenesis	IMP	biological process
GO:0043583	ear development	IMP	biological process
GO:0030324	lung development	IMP	biological process
GO:0048286	lung alveolus development	IMP	biological process
GO:0048844	artery morphogenesis	IMP	biological process
GO:0060426	lung vasculature development	IMP	biological process
GO:0001568	blood vessel development	IMP	biological process
GO:0003281	ventricular septum development	IMP	biological process
GO:0042297	vocal learning	IMP	biological process
GO:0048589	developmental growth	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0007612	learning	IMP	biological process
GO:0007631	feeding behavior	IMP	biological process
GO:0060900	embryonic camera-type eye formation	IMP	biological process
GO:0061156	pulmonary artery morphogenesis	IMP	biological process
GO:0061038	uterus morphogenesis	IMP	biological process
GO:0061205	paramesonephric duct development	IMP	biological process
GO:0048546	digestive tract morphogenesis	IMP	biological process
GO:0048566	embryonic digestive tract development	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0030540	female genitalia development	IMP	biological process
GO:0034633	retinol transport	IDA	biological process
GO:0034632	retinol transmembrane transporter activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0043010	camera-type eye development	IMP	biological process
GO:0034632	retinol transmembrane transporter activity	IEA	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0016918	retinal binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019841	retinol binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Microphthalmia	KEGG:H01027
Microphthalmia, syndromic	KEGG:H02170
Microphthalmia	KEGG:H01027
Microphthalmia, syndromic	KEGG:H02170
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq