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Q9BX79

- STRA6_HUMAN

UniProt

Q9BX79 - STRA6_HUMAN

Protein

Stimulated by retinoic acid gene 6 protein homolog

Gene

STRA6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Molecular functioni

    1. receptor activity Source: InterPro
    2. vitamin transporter activity Source: InterPro

    GO - Biological processi

    1. adrenal gland development Source: DFLAT
    2. alveolar primary septum development Source: DFLAT
    3. artery morphogenesis Source: DFLAT
    4. blood vessel development Source: DFLAT
    5. cognition Source: DFLAT
    6. developmental growth Source: DFLAT
    7. diaphragm development Source: DFLAT
    8. digestive tract morphogenesis Source: DFLAT
    9. ductus arteriosus closure Source: DFLAT
    10. ear development Source: DFLAT
    11. embryonic camera-type eye formation Source: DFLAT
    12. embryonic digestive tract development Source: DFLAT
    13. eyelid development in camera-type eye Source: DFLAT
    14. face morphogenesis Source: DFLAT
    15. feeding behavior Source: DFLAT
    16. female genitalia development Source: DFLAT
    17. head development Source: DFLAT
    18. head morphogenesis Source: DFLAT
    19. heart development Source: DFLAT
    20. kidney development Source: DFLAT
    21. learning Source: DFLAT
    22. lung alveolus development Source: DFLAT
    23. lung development Source: DFLAT
    24. lung vasculature development Source: DFLAT
    25. neuromuscular process Source: DFLAT
    26. nose morphogenesis Source: DFLAT
    27. paramesonephric duct development Source: DFLAT
    28. phototransduction, visible light Source: Reactome
    29. positive regulation of behavior Source: DFLAT
    30. pulmonary artery morphogenesis Source: DFLAT
    31. pulmonary valve morphogenesis Source: DFLAT
    32. retinoic acid metabolic process Source: Ensembl
    33. retinoid metabolic process Source: Reactome
    34. smooth muscle tissue development Source: DFLAT
    35. uterus morphogenesis Source: DFLAT
    36. ventricular septum development Source: DFLAT
    37. vitamin A import Source: Ensembl
    38. vocal learning Source: DFLAT

    Keywords - Molecular functioni

    Receptor

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_160130. Retinoid cycle disease events.
    REACT_160156. The canonical retinoid cycle in rods (twilight vision).

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Stimulated by retinoic acid gene 6 protein homolog
    Gene namesi
    Name:STRA6
    ORF Names:PP14296, UNQ3126/PRO10282/PRO19578
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:30650. STRA6.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: Reactome
    3. protein complex Source: LIFEdb

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901P → L in MCOPS9. 1 Publication
    VAR_037168
    Natural varianti293 – 2931P → L in MCOPS9. 1 Publication
    VAR_037169
    Natural varianti304 – 3041G → K in MCOPS9; also found in a family with isolated colobomatous microphthalmia; affects STRA6 cell surface expression and retinol upatake; requires 2 nucleotide substitutions. 1 Publication
    VAR_066849
    Natural varianti321 – 3211T → P in MCOPS9. 1 Publication
    Corresponds to variant rs118203962 [ dbSNP | Ensembl ].
    VAR_037170
    Natural varianti644 – 6441T → M in MCOPS9. 1 Publication
    VAR_037174
    Natural varianti655 – 6551R → C in MCOPS9. 1 Publication
    VAR_037175
    Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe.

    Keywords - Diseasei

    Disease mutation, Microphthalmia

    Organism-specific databases

    MIMi601186. phenotype.
    Orphaneti98938. Colobomatous microphthalmia.
    2470. Matthew-Wood syndrome.
    PharmGKBiPA134956551.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 667667Stimulated by retinoic acid gene 6 protein homologPRO_0000311228Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi8 – 81N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9BX79.
    PaxDbiQ9BX79.
    PRIDEiQ9BX79.

    PTM databases

    PhosphoSiteiQ9BX79.

    Expressioni

    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

    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

    ArrayExpressiQ9BX79.
    BgeeiQ9BX79.
    CleanExiHS_STRA6.
    GenevestigatoriQ9BX79.

    Organism-specific databases

    HPAiHPA040839.

    Interactioni

    Protein-protein interaction databases

    BioGridi122110. 2 interactions.
    MINTiMINT-4722094.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BX79.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5050ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini72 – 10029CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini122 – 20483ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini226 – 30176CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini323 – 3242ExtracellularSequence Analysis
    Topological domaini346 – 36116CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini383 – 43957ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini461 – 47414CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini496 – 50813ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini530 – 667138CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei51 – 7121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei101 – 12121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei205 – 22521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei302 – 32221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei325 – 34521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei362 – 38221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei440 – 46021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei475 – 49521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei509 – 52921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG47654.
    HOVERGENiHBG106311.
    InParanoidiQ9BX79.
    OMAiAIFCWMS.
    OrthoDBiEOG7CRTPB.
    PhylomeDBiQ9BX79.
    TreeFamiTF331851.

    Family and domain databases

    InterProiIPR026612. STRA6.
    [Graphical view]
    PANTHERiPTHR21444:SF5. PTHR21444:SF5. 1 hit.

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    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

    MSSQPAGNQT SPGATEDYSY GSWYIDEPQG GEELQPEGEV PSCHTSIPPG    50
    LYHACLASLS ILVLLLLAML VRRRQLWPDC VRGRPGLPSP VDFLAGDRPR 100
    AVPAAVFMVL LSSLCLLLPD EDALPFLTLA SAPSQDGKTE APRGAWKILG 150
    LFYYAALYYP LAACATAGHT AAHLLGSTLS WAHLGVQVWQ RAECPQVPKI 200
    YKYYSLLASL PLLLGLGFLS LWYPVQLVRS FSRRTGAGSK GLQSSYSEEY 250
    LRNLLCRKKL GSSYHTSKHG FLSWARVCLR HCIYTPQPGF HLPLKLVLSA 300
    TLTGTAIYQV ALLLLVGVVP TIQKVRAGVT TDVSYLLAGF GIVLSEDKQE 350
    VVELVKHHLW ALEVCYISAL VLSCLLTFLV LMRSLVTHRT NLRALHRGAA 400
    LDLSPLHRSP HPSRQAIFCW MSFSAYQTAF ICLGLLVQQI IFFLGTTALA 450
    FLVLMPVLHG RNLLLFRSLE SSWPFWLTLA LAVILQNMAA HWVFLETHDG 500
    HPQLTNRRVL YAATFLLFPL NVLVGAMVAT WRVLLSALYN AIHLGQMDLS 550
    LLPPRAATLD PGYYTYRNFL KIEVSQSHPA MTAFCSLLLQ AQSLLPRTMA 600
    APQDSLRPGE EDEGMQLLQT KDSMAKGARP GASRGRARWG LAYTLLHNPT 650
    LQVFRKTALL GANGAQP 667
    Length:667
    Mass (Da):73,503
    Last modified:June 1, 2001 - v1
    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

    Sequence cautioni

    The sequence BAB14122.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAH13848.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence CAD97655.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti95 – 951A → V in BAH12965. (PubMed:14702039)Curated
    Sequence conflicti408 – 4081R → Q in CAD97655. (PubMed:17974005)Curated
    Sequence conflicti417 – 4171I → M in BAH12965. (PubMed:14702039)Curated
    Sequence conflicti635 – 6351G → S in BAH13848. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901P → L in MCOPS9. 1 Publication
    VAR_037168
    Natural varianti217 – 2171G → E in anophthalmia/microphthalmia. 1 Publication
    VAR_060203
    Natural varianti293 – 2931P → L in MCOPS9. 1 Publication
    VAR_037169
    Natural varianti304 – 3041G → K in MCOPS9; also found in a family with isolated colobomatous microphthalmia; affects STRA6 cell surface expression and retinol upatake; requires 2 nucleotide substitutions. 1 Publication
    VAR_066849
    Natural varianti321 – 3211T → P in MCOPS9. 1 Publication
    Corresponds to variant rs118203962 [ dbSNP | Ensembl ].
    VAR_037170
    Natural varianti339 – 3391G → S.2 Publications
    Corresponds to variant rs17852249 [ dbSNP | Ensembl ].
    VAR_037171
    Natural varianti438 – 4381Q → R in anophthalmia/microphthalmia. 1 Publication
    VAR_060204
    Natural varianti517 – 5171L → F.
    Corresponds to variant rs11545567 [ dbSNP | Ensembl ].
    VAR_037172
    Natural varianti527 – 5271M → I.3 Publications
    Corresponds to variant rs736118 [ dbSNP | Ensembl ].
    VAR_037173
    Natural varianti638 – 6381R → P in anophthalmia/microphthalmia. 1 Publication
    VAR_060205
    Natural varianti644 – 6441T → M in MCOPS9. 1 Publication
    VAR_037174
    Natural varianti655 – 6551R → C in MCOPS9. 1 Publication
    VAR_037175

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MGGKGGGDTRGPVLFPCQLA QALSPRRAFPRELKEKGQRM in isoform 4. 1 PublicationVSP_029437
    Alternative sequencei1 – 11M → MQIRLLRAELVVPLWQFIRQ WPPGSDGWGQMEEKGQRM in isoform 5. 1 PublicationVSP_046776
    Alternative sequencei1 – 11M → MDSQGDWAAQEKGQRM in isoform 6. 1 PublicationVSP_047497
    Alternative sequencei89 – 979Missing in isoform 3. 2 PublicationsVSP_029438
    Alternative sequencei145 – 667523AWKIL…NGAQP → NLPKITELRLVRAWI in isoform 2. 1 PublicationVSP_029439Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    UniGeneiHs.24553.

    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]
    GeneIDi64220.
    KEGGihsa:64220.
    UCSCiuc002axj.3. human. [Q9BX79-4]
    uc002axk.3. human. [Q9BX79-1]
    uc002axn.3. human. [Q9BX79-3]
    uc010bjk.3. human. [Q9BX79-2]

    Polymorphism databases

    DMDMi74733466.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    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 ]
    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 ]
    UniGenei Hs.24553.

    3D structure databases

    ProteinModelPortali Q9BX79.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122110. 2 interactions.
    MINTi MINT-4722094.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q9BX79.

    Polymorphism databases

    DMDMi 74733466.

    Proteomic databases

    MaxQBi Q9BX79.
    PaxDbi Q9BX79.
    PRIDEi Q9BX79.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    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 ]
    GeneIDi 64220.
    KEGGi hsa:64220.
    UCSCi uc002axj.3. human. [Q9BX79-4 ]
    uc002axk.3. human. [Q9BX79-1 ]
    uc002axn.3. human. [Q9BX79-3 ]
    uc010bjk.3. human. [Q9BX79-2 ]

    Organism-specific databases

    CTDi 64220.
    GeneCardsi GC15M074471.
    HGNCi HGNC:30650. STRA6.
    HPAi HPA040839.
    MIMi 601186. phenotype.
    610745. gene.
    neXtProti NX_Q9BX79.
    Orphaneti 98938. Colobomatous microphthalmia.
    2470. Matthew-Wood syndrome.
    PharmGKBi PA134956551.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47654.
    HOVERGENi HBG106311.
    InParanoidi Q9BX79.
    OMAi AIFCWMS.
    OrthoDBi EOG7CRTPB.
    PhylomeDBi Q9BX79.
    TreeFami TF331851.

    Enzyme and pathway databases

    Reactomei REACT_160130. Retinoid cycle disease events.
    REACT_160156. The canonical retinoid cycle in rods (twilight vision).

    Miscellaneous databases

    GenomeRNAii 64220.
    NextBioi 66143.
    PROi Q9BX79.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BX79.
    Bgeei Q9BX79.
    CleanExi HS_STRA6.
    Genevestigatori Q9BX79.

    Family and domain databases

    InterProi IPR026612. STRA6.
    [Graphical view ]
    PANTHERi PTHR21444:SF5. PTHR21444:SF5. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Overexpression of the retinoic acid-responsive gene Stra6 in human cancers and its synergistic induction by Wnt-1 and retinoic acid."
      Szeto W., Jiang W., Tice D.A., Rubinfeld B., Hollingshead P.G., Fong S.E., Dugger D.L., Pham T., Yansura D.G., Wong T.A., Grimaldi J.C., Corpuz R.T., Singh J.S., Frantz G.D., Devaux B., Crowley C.W., Schwall R.H., Eberhard D.A.
      , Rastelli L., Polakis P., Pennica D.
      Cancer Res. 61:4197-4205(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), INDUCTION, VARIANT ILE-527.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ILE-527.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Endometrium.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 5 AND 6), VARIANT ILE-527.
      Tissue: Testis.
    5. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-339.
    6. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT SER-339.
      Tissue: Brain and Muscle.
    9. "Synergistic induction of tumor antigens by Wnt-1 signaling and retinoic acid revealed by gene expression profiling."
      Tice D.A., Szeto W., Soloviev I., Rubinfeld B., Fong S.E., Dugger D.L., Winer J., Williams P.M., Wieand D., Smith V., Schwall R.H., Pennica D., Polakis P.
      J. Biol. Chem. 277:14329-14335(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    10. Cited for: INVOLVEMENT IN MCOPS9.
    11. "First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype."
      Casey J., Kawaguchi R., Morrissey M., Sun H., McGettigan P., Nielsen J.E., Conroy J., Regan R., Kenny E., Cormican P., Morris D.W., Tormey P., Ni Chroinin M., Kennedy B.N., Lynch S., Green A., Ennis S.
      Hum. Mutat. 32:1417-1426(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ISOLATED COLOBOMATOUS MICROPHTHALMIA, VARIANT MCOPS9 LYS-304, CHARACTERIZATION OF VARIANT MCOPS9 LYS-304.
    12. "Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation."
      Pasutto F., Sticht H., Hammersen G., Gillessen-Kaesbach G., FitzPatrick D.R., Nuernberg G., Brasch F., Schirmer-Zimmermann H., Tolmie J.L., Chitayat D., Houge G., Fernandez-Martinez L., Keating S., Mortier G., Hennekam R.C.M., von der Wense A., Slavotinek A., Meinecke P.
      , Bitoun P., Becker C., Nuernberg P., Reis A., Rauch A.
      Am. J. Hum. Genet. 80:550-560(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MCOPS9 LEU-90; LEU-293; PRO-321; MET-644 AND CYS-655, TISSUE SPECIFICITY.
    13. "Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia."
      White T., Lu T., Metlapally R., Katowitz J., Kherani F., Wang T.-Y., Tran-Viet K.-N., Young T.L.
      Mol. Vis. 14:2458-2465(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ANOPHTHALMIA/MICROPHTHALMIA GLU-217.
    14. Cited for: VARIANTS ANOPHTHALMIA/MICROPHTHALMIA ARG-438 AND PRO-638.

    Entry informationi

    Entry nameiSTRA6_HUMAN
    AccessioniPrimary (citable) accession number: Q9BX79
    Secondary accession number(s): A8K7F1
    , B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9H9U8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 88 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3