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Protein

Receptor for retinol uptake STRA6

Gene

STRA6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Functions as 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:9452451, PubMed:18316031, PubMed:22665496). 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).Curated4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor
Biological processTransport
LigandRetinol-binding, Vitamin A

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2453864 Retinoid cycle disease events
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Protein family/group databases

Transport Classification Database

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TCDBi
2.A.90.1.3 the vitamin a receptor/transporter (stra6) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Receptor for retinol uptake STRA6
Alternative name(s):
Retinol-binding protein receptor STRA62 Publications
Stimulated by retinoic acid gene 6 protein homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:STRA6
ORF Names:PP14296, UNQ3126/PRO10282/PRO19578
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000137868.18

Human Gene Nomenclature Database

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HGNCi
HGNC:30650 STRA6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610745 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BX79

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 50ExtracellularBy similarityAdd BLAST50
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei51 – 71HelicalBy similarityAdd BLAST21
Topological domaini72 – 100CytoplasmicBy similarityAdd BLAST29
Transmembranei101 – 121HelicalBy similarityAdd BLAST21
Topological domaini122 – 144ExtracellularBy similarityAdd BLAST23
Transmembranei145 – 165HelicalBy similarityAdd BLAST21
Topological domaini166 – 168CytoplasmicBy similarity3
Transmembranei169 – 189HelicalBy similarityAdd BLAST21
Topological domaini190 – 205ExtracellularBy similarityAdd BLAST16
Transmembranei206 – 226HelicalBy similarityAdd BLAST21
Topological domaini227 – 295CytoplasmicBy similarityAdd BLAST69
Transmembranei296 – 316HelicalBy similarityAdd BLAST21
Topological domaini317 – 367ExtracellularBy similarityAdd BLAST51
Transmembranei368 – 388HelicalBy similarityAdd BLAST21
Topological domaini389 – 422CytoplasmicBy similarityAdd BLAST34
Transmembranei423 – 443HelicalBy similarityAdd BLAST21
Topological domaini444 – 473ExtracellularBy similarityAdd BLAST30
Transmembranei474 – 494HelicalBy similarityAdd BLAST21
Topological domaini495 – 509CytoplasmicBy similarityAdd BLAST15
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei510 – 547HelicalBy similarityAdd BLAST38
Topological domaini548 – 667CytoplasmicBy similarityAdd BLAST120

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Microphthalmia, syndromic, 9 (MCOPS9)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601186
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03716890P → L in MCOPS9. 1 PublicationCorresponds to variant dbSNP:rs118203961EnsemblClinVar.1
Natural variantiVAR_037169293P → L in MCOPS9. 1 PublicationCorresponds to variant dbSNP:rs118203958EnsemblClinVar.1
Natural variantiVAR_066849304G → K in MCOPS9; also found in a family with isolated colobomatous microphthalmia; affects STRA6 cell surface expression and retinol uptake; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs151341424EnsemblClinVar.1
Natural variantiVAR_037170321T → P in MCOPS9. 1 PublicationCorresponds to variant dbSNP:rs118203962EnsemblClinVar.1
Natural variantiVAR_037174644T → M in MCOPS9; loss of tyrosine phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs118203960EnsemblClinVar.1
Natural variantiVAR_037175655R → C in MCOPS9. 1 PublicationCorresponds to variant dbSNP:rs118203959EnsemblClinVar.1
Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi255L → A: Loss of interaction with RBP1. 1 Publication1
Mutagenesisi643Y → F: Loss of tyrosine phosphorylation. 1 Publication1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNET

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DisGeNETi
64220

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
STRA6

MalaCards human disease database

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MalaCardsi
STRA6
MIMi601186 phenotype

Open Targets

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OpenTargetsi
ENSG00000137868

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
98938 Colobomatous microphthalmia
2470 Matthew-Wood syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134956551

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
STRA6

Domain mapping of disease mutations (DMDM)

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DMDMi
74733466

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003112281 – 667Receptor for retinol uptake STRA6Add BLAST667

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi8N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei643Phosphotyrosine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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).2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BX79

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BX79

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9BX79

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9BX79

PeptideAtlas

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PeptideAtlasi
Q9BX79

PRoteomics IDEntifications database

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PRIDEi
Q9BX79

ProteomicsDB human proteome resource

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ProteomicsDBi
79375
79376 [Q9BX79-2]
79377 [Q9BX79-3]
79378 [Q9BX79-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9BX79

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9BX79

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

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.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000137868 Expressed in 115 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

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CleanExi
HS_STRA6

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BX79 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BX79 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040839

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122110, 2 interactors

Protein interaction database and analysis system

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IntActi
Q9BX79, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000456609

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9BX79

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni235 – 293Interaction with RBP11 PublicationAdd BLAST59

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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).By similarity

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IDYH Eukaryota
ENOG410YGRH LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153246

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG106311

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BX79

Identification of Orthologs from Complete Genome Data

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OMAi
TAFTCLG

Database of Orthologous Groups

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OrthoDBi
325169at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BX79

TreeFam database of animal gene trees

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TreeFami
TF331851

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026612 STRA6

The PANTHER Classification System

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PANTHERi
PTHR21444:SF16 PTHR21444:SF16, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BX79-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSSQPAGNQT SPGATEDYSY GSWYIDEPQG GEELQPEGEV PSCHTSIPPG
60 70 80 90 100
LYHACLASLS ILVLLLLAML VRRRQLWPDC VRGRPGLPSP VDFLAGDRPR
110 120 130 140 150
AVPAAVFMVL LSSLCLLLPD EDALPFLTLA SAPSQDGKTE APRGAWKILG
160 170 180 190 200
LFYYAALYYP LAACATAGHT AAHLLGSTLS WAHLGVQVWQ RAECPQVPKI
210 220 230 240 250
YKYYSLLASL PLLLGLGFLS LWYPVQLVRS FSRRTGAGSK GLQSSYSEEY
260 270 280 290 300
LRNLLCRKKL GSSYHTSKHG FLSWARVCLR HCIYTPQPGF HLPLKLVLSA
310 320 330 340 350
TLTGTAIYQV ALLLLVGVVP TIQKVRAGVT TDVSYLLAGF GIVLSEDKQE
360 370 380 390 400
VVELVKHHLW ALEVCYISAL VLSCLLTFLV LMRSLVTHRT NLRALHRGAA
410 420 430 440 450
LDLSPLHRSP HPSRQAIFCW MSFSAYQTAF ICLGLLVQQI IFFLGTTALA
460 470 480 490 500
FLVLMPVLHG RNLLLFRSLE SSWPFWLTLA LAVILQNMAA HWVFLETHDG
510 520 530 540 550
HPQLTNRRVL YAATFLLFPL NVLVGAMVAT WRVLLSALYN AIHLGQMDLS
560 570 580 590 600
LLPPRAATLD PGYYTYRNFL KIEVSQSHPA MTAFCSLLLQ AQSLLPRTMA
610 620 630 640 650
APQDSLRPGE EDEGMQLLQT KDSMAKGARP GASRGRARWG LAYTLLHNPT
660
LQVFRKTALL GANGAQP
Length:667
Mass (Da):73,503
Last modified:June 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD20840A46998BA2E
GO
Isoform 2 (identifier: Q9BX79-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     145-667: AWKILGLFYY...ALLGANGAQP → NLPKITELRLVRAWI

Note: No experimental confirmation available.
Show »
Length:159
Mass (Da):17,190
Checksum:i7FB62BED986EC3B9
GO
Isoform 3 (identifier: Q9BX79-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     89-97: Missing.

Show »
Length:658
Mass (Da):72,601
Checksum:i54052F7AE58F82C9
GO
Isoform 4 (identifier: Q9BX79-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGGKGGGDTRGPVLFPCQLAQALSPRRAFPRELKEKGQRM

Note: No experimental confirmation available.
Show »
Length:706
Mass (Da):77,696
Checksum:iCC091BBE74255CDA
GO
Isoform 5 (identifier: Q9BX79-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQIRLLRAELVVPLWQFIRQWPPGSDGWGQMEEKGQRM

Show »
Length:704
Mass (Da):77,922
Checksum:i8E952666FFAAE051
GO
Isoform 6 (identifier: Q9BX79-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDSQGDWAAQEKGQRM

Note: No experimental confirmation available.
Show »
Length:682
Mass (Da):75,192
Checksum:i24CE3B0CC96D9FA5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQI6J3KQI6_HUMAN
Receptor for retinol uptake STRA6
STRA6
659Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3NI08I3NI08_HUMAN
Receptor for retinol uptake STRA6
STRA6
477Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2B6I3L2B6_HUMAN
Receptor for retinol uptake STRA6
STRA6
266Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L0M6I3L0M6_HUMAN
Receptor for retinol uptake STRA6
STRA6
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1C7I3L1C7_HUMAN
Receptor for retinol uptake STRA6
STRA6
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB14122 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAH13848 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAD97655 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti95A → V in BAH12965 (PubMed:14702039).Curated1
Sequence conflicti408R → Q in CAD97655 (PubMed:17974005).Curated1
Sequence conflicti417I → M in BAH12965 (PubMed:14702039).Curated1
Sequence conflicti635G → S in BAH13848 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03716890P → L in MCOPS9. 1 PublicationCorresponds to variant dbSNP:rs118203961EnsemblClinVar.1
Natural variantiVAR_060203217G → E in anophthalmia/microphthalmia. 1 PublicationCorresponds to variant dbSNP:rs909629751Ensembl.1
Natural variantiVAR_037169293P → L in MCOPS9. 1 PublicationCorresponds to variant dbSNP:rs118203958EnsemblClinVar.1
Natural variantiVAR_066849304G → K in MCOPS9; also found in a family with isolated colobomatous microphthalmia; affects STRA6 cell surface expression and retinol uptake; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs151341424EnsemblClinVar.1
Natural variantiVAR_037170321T → P in MCOPS9. 1 PublicationCorresponds to variant dbSNP:rs118203962EnsemblClinVar.1
Natural variantiVAR_037171339G → S2 PublicationsCorresponds to variant dbSNP:rs17852249Ensembl.1
Natural variantiVAR_060204438Q → R in anophthalmia/microphthalmia. 1 PublicationCorresponds to variant dbSNP:rs869025269EnsemblClinVar.1
Natural variantiVAR_037172517L → F. Corresponds to variant dbSNP:rs11545567Ensembl.1
Natural variantiVAR_037173527M → I3 PublicationsCorresponds to variant dbSNP:rs736118EnsemblClinVar.1
Natural variantiVAR_060205638R → P in anophthalmia/microphthalmia. 1 PublicationCorresponds to variant dbSNP:rs144691445EnsemblClinVar.1
Natural variantiVAR_037174644T → M in MCOPS9; loss of tyrosine phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs118203960EnsemblClinVar.1
Natural variantiVAR_037175655R → C in MCOPS9. 1 PublicationCorresponds to variant dbSNP:rs118203959EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0294371M → MGGKGGGDTRGPVLFPCQLA QALSPRRAFPRELKEKGQRM in isoform 4. 1 Publication1
Alternative sequenceiVSP_0467761M → MQIRLLRAELVVPLWQFIRQ WPPGSDGWGQMEEKGQRM in isoform 5. 1 Publication1
Alternative sequenceiVSP_0474971M → MDSQGDWAAQEKGQRM in isoform 6. 1 Publication1
Alternative sequenceiVSP_02943889 – 97Missing in isoform 3. 2 Publications9
Alternative sequenceiVSP_029439145 – 667AWKIL…NGAQP → NLPKITELRLVRAWI in isoform 2. 1 PublicationAdd BLAST523

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF352728 mRNA Translation: AAK30289.1
AF352729 mRNA Translation: AAK30290.1
AY358748 mRNA Translation: AAQ89108.1
AY359089 mRNA Translation: AAQ89447.1
BX537413 mRNA Translation: CAD97655.1 Different initiation.
AK022603 mRNA Translation: BAB14122.1 Different initiation.
AK291966 mRNA Translation: BAF84655.1
AK299191 mRNA Translation: BAH12965.1
AK302932 mRNA Translation: BAH13848.1 Different initiation.
AF370419 mRNA Translation: AAQ15255.2
AC023545 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99353.1
CH471136 Genomic DNA Translation: EAW99356.1
BC015881 mRNA Translation: AAH15881.1
BC025256 mRNA Translation: AAH25256.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10261.1 [Q9BX79-1]
CCDS45301.1 [Q9BX79-3]
CCDS45302.1 [Q9BX79-2]
CCDS55973.1 [Q9BX79-4]
CCDS55974.1 [Q9BX79-5]
CCDS58387.1 [Q9BX79-6]

NCBI Reference Sequences

More...
RefSeqi
NP_001136089.1, NM_001142617.1 [Q9BX79-1]
NP_001136090.1, NM_001142618.1 [Q9BX79-1]
NP_001136091.1, NM_001142619.1 [Q9BX79-3]
NP_001136092.1, NM_001142620.1 [Q9BX79-2]
NP_001185969.1, NM_001199040.1 [Q9BX79-5]
NP_001185970.1, NM_001199041.1 [Q9BX79-6]
NP_001185971.1, NM_001199042.1 [Q9BX79-4]
NP_071764.3, NM_022369.3 [Q9BX79-1]
XP_011520185.1, XM_011521883.1 [Q9BX79-1]
XP_016877968.1, XM_017022479.1 [Q9BX79-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.24553

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000323940; ENSP00000326085; ENSG00000137868 [Q9BX79-1]
ENST00000395105; ENSP00000378537; ENSG00000137868 [Q9BX79-1]
ENST00000423167; ENSP00000413012; ENSG00000137868 [Q9BX79-3]
ENST00000432245; ENSP00000407176; ENSG00000137868 [Q9BX79-2]
ENST00000449139; ENSP00000410221; ENSG00000137868 [Q9BX79-1]
ENST00000535552; ENSP00000440238; ENSG00000137868 [Q9BX79-5]
ENST00000563965; ENSP00000456609; ENSG00000137868 [Q9BX79-4]
ENST00000574278; ENSP00000458827; ENSG00000137868 [Q9BX79-6]
ENST00000616000; ENSP00000479112; ENSG00000137868 [Q9BX79-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64220

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64220

UCSC genome browser

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UCSCi
uc002axj.5 human [Q9BX79-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF352728 mRNA Translation: AAK30289.1
AF352729 mRNA Translation: AAK30290.1
AY358748 mRNA Translation: AAQ89108.1
AY359089 mRNA Translation: AAQ89447.1
BX537413 mRNA Translation: CAD97655.1 Different initiation.
AK022603 mRNA Translation: BAB14122.1 Different initiation.
AK291966 mRNA Translation: BAF84655.1
AK299191 mRNA Translation: BAH12965.1
AK302932 mRNA Translation: BAH13848.1 Different initiation.
AF370419 mRNA Translation: AAQ15255.2
AC023545 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99353.1
CH471136 Genomic DNA Translation: EAW99356.1
BC015881 mRNA Translation: AAH15881.1
BC025256 mRNA Translation: AAH25256.1
CCDSiCCDS10261.1 [Q9BX79-1]
CCDS45301.1 [Q9BX79-3]
CCDS45302.1 [Q9BX79-2]
CCDS55973.1 [Q9BX79-4]
CCDS55974.1 [Q9BX79-5]
CCDS58387.1 [Q9BX79-6]
RefSeqiNP_001136089.1, NM_001142617.1 [Q9BX79-1]
NP_001136090.1, NM_001142618.1 [Q9BX79-1]
NP_001136091.1, NM_001142619.1 [Q9BX79-3]
NP_001136092.1, NM_001142620.1 [Q9BX79-2]
NP_001185969.1, NM_001199040.1 [Q9BX79-5]
NP_001185970.1, NM_001199041.1 [Q9BX79-6]
NP_001185971.1, NM_001199042.1 [Q9BX79-4]
NP_071764.3, NM_022369.3 [Q9BX79-1]
XP_011520185.1, XM_011521883.1 [Q9BX79-1]
XP_016877968.1, XM_017022479.1 [Q9BX79-1]
UniGeneiHs.24553

3D structure databases

ProteinModelPortaliQ9BX79
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122110, 2 interactors
IntActiQ9BX79, 3 interactors
STRINGi9606.ENSP00000456609

Protein family/group databases

TCDBi2.A.90.1.3 the vitamin a receptor/transporter (stra6) family

PTM databases

iPTMnetiQ9BX79
PhosphoSitePlusiQ9BX79

Polymorphism and mutation databases

BioMutaiSTRA6
DMDMi74733466

Proteomic databases

EPDiQ9BX79
jPOSTiQ9BX79
MaxQBiQ9BX79
PaxDbiQ9BX79
PeptideAtlasiQ9BX79
PRIDEiQ9BX79
ProteomicsDBi79375
79376 [Q9BX79-2]
79377 [Q9BX79-3]
79378 [Q9BX79-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323940; ENSP00000326085; ENSG00000137868 [Q9BX79-1]
ENST00000395105; ENSP00000378537; ENSG00000137868 [Q9BX79-1]
ENST00000423167; ENSP00000413012; ENSG00000137868 [Q9BX79-3]
ENST00000432245; ENSP00000407176; ENSG00000137868 [Q9BX79-2]
ENST00000449139; ENSP00000410221; ENSG00000137868 [Q9BX79-1]
ENST00000535552; ENSP00000440238; ENSG00000137868 [Q9BX79-5]
ENST00000563965; ENSP00000456609; ENSG00000137868 [Q9BX79-4]
ENST00000574278; ENSP00000458827; ENSG00000137868 [Q9BX79-6]
ENST00000616000; ENSP00000479112; ENSG00000137868 [Q9BX79-1]
GeneIDi64220
KEGGihsa:64220
UCSCiuc002axj.5 human [Q9BX79-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64220
DisGeNETi64220
EuPathDBiHostDB:ENSG00000137868.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
STRA6
GeneReviewsiSTRA6
HGNCiHGNC:30650 STRA6
HPAiHPA040839
MalaCardsiSTRA6
MIMi601186 phenotype
610745 gene
neXtProtiNX_Q9BX79
OpenTargetsiENSG00000137868
Orphaneti98938 Colobomatous microphthalmia
2470 Matthew-Wood syndrome
PharmGKBiPA134956551

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IDYH Eukaryota
ENOG410YGRH LUCA
GeneTreeiENSGT00940000153246
HOVERGENiHBG106311
InParanoidiQ9BX79
OMAiTAFTCLG
OrthoDBi325169at2759
PhylomeDBiQ9BX79
TreeFamiTF331851

Enzyme and pathway databases

ReactomeiR-HSA-2453864 Retinoid cycle disease events
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
STRA6 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
64220

Protein Ontology

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PROi
PR:Q9BX79

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000137868 Expressed in 115 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_STRA6
ExpressionAtlasiQ9BX79 baseline and differential
GenevisibleiQ9BX79 HS

Family and domain databases

InterProiView protein in InterPro
IPR026612 STRA6
PANTHERiPTHR21444:SF16 PTHR21444:SF16, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSTRA6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BX79
Secondary accession number(s): A8K7F1
, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9H9U8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: June 1, 2001
Last modified: January 16, 2019
This is version 126 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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