InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: STRA6

Summary

InnateDB Protein

IDBP-747893.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

STRA6

Protein Name

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000456609

InnateDB Gene

IDBG-21876 (STRA6)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

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.

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}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0051183	vitamin transporter activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0001568	blood vessel development
GO:0001822	kidney development
GO:0003184	pulmonary valve morphogenesis
GO:0003281	ventricular septum development
GO:0007507	heart development
GO:0007603	phototransduction, visible light
GO:0007612	learning
GO:0007631	feeding behavior
GO:0030324	lung development
GO:0030325	adrenal gland development
GO:0030540	female genitalia development
GO:0034633	retinol transport
GO:0042297	vocal learning
GO:0042573	retinoic acid metabolic process
GO:0043583	ear development
GO:0043585	nose morphogenesis
GO:0046427	positive regulation of JAK-STAT cascade
GO:0048286	lung alveolus development
GO:0048520	positive regulation of behavior
GO:0048546	digestive tract morphogenesis
GO:0048566	embryonic digestive tract development
GO:0048589	developmental growth
GO:0048745	smooth muscle tissue development
GO:0048844	artery morphogenesis
GO:0050890	cognition
GO:0050905	neuromuscular process
GO:0060322	head development
GO:0060323	head morphogenesis
GO:0060325	face morphogenesis
GO:0060426	lung vasculature development
GO:0060539	diaphragm development
GO:0060900	embryonic camera-type eye formation
GO:0061029	eyelid development in camera-type eye
GO:0061038	uterus morphogenesis
GO:0061143	alveolar primary septum development
GO:0061156	pulmonary artery morphogenesis
GO:0061205	paramesonephric duct development
GO:0071939	vitamin A import
GO:0097070	ductus arteriosus closure