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Q9BX79 (STRA6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Stimulated by retinoic acid gene 6 protein homolog
Gene names
Name:STRA6
ORF Names:PP14296, UNQ3126/PRO10282/PRO19578
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length667 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subcellular location

Cell membrane; Multi-pass membrane protein Potential.

Tissue specificity

Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris. Ref.12

Induction

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. Ref.1 Ref.9

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12

Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe.

Sequence caution

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.

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Microphthalmia
   DomainTransmembrane
Transmembrane helix
   Molecular functionReceptor
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadrenal gland development

Inferred from mutant phenotype Ref.12. Source: DFLAT

alveolar primary septum development

Inferred from mutant phenotype Ref.12. Source: DFLAT

artery morphogenesis

Inferred from mutant phenotype Ref.12. Source: DFLAT

blood vessel development

Inferred from mutant phenotype Ref.12. Source: DFLAT

cognition

Inferred from mutant phenotype Ref.12. Source: DFLAT

developmental growth

Inferred from mutant phenotype Ref.12. Source: DFLAT

diaphragm development

Inferred from mutant phenotype Ref.12. Source: DFLAT

digestive tract morphogenesis

Inferred from mutant phenotype Ref.12. Source: DFLAT

ductus arteriosus closure

Inferred from mutant phenotype PubMed 19500772. Source: DFLAT

ear development

Inferred from mutant phenotype Ref.12. Source: DFLAT

embryonic camera-type eye formation

Inferred from mutant phenotype Ref.12. Source: DFLAT

embryonic digestive tract development

Inferred from mutant phenotype Ref.12. Source: DFLAT

eyelid development in camera-type eye

Inferred from mutant phenotype Ref.12. Source: DFLAT

face morphogenesis

Inferred from mutant phenotype Ref.12. Source: DFLAT

feeding behavior

Inferred from mutant phenotype Ref.12. Source: DFLAT

female genitalia development

Inferred from mutant phenotype Ref.12. Source: DFLAT

head development

Inferred from mutant phenotype Ref.12. Source: DFLAT

head morphogenesis

Inferred from mutant phenotype Ref.12. Source: DFLAT

heart development

Inferred from mutant phenotype Ref.12. Source: DFLAT

kidney development

Inferred from mutant phenotype Ref.12. Source: DFLAT

learning

Inferred from mutant phenotype Ref.12. Source: DFLAT

lung alveolus development

Inferred from mutant phenotype Ref.12. Source: DFLAT

lung development

Inferred from mutant phenotype Ref.12. Source: DFLAT

lung vasculature development

Inferred from mutant phenotype Ref.12. Source: DFLAT

neuromuscular process

Inferred from mutant phenotype Ref.12. Source: DFLAT

nose morphogenesis

Inferred from mutant phenotype Ref.12. Source: DFLAT

paramesonephric duct development

Inferred from mutant phenotype Ref.12. Source: DFLAT

phototransduction, visible light

Traceable author statement. Source: Reactome

positive regulation of behavior

Inferred from mutant phenotype Ref.12. Source: DFLAT

pulmonary artery morphogenesis

Inferred from mutant phenotype Ref.12. Source: DFLAT

pulmonary valve morphogenesis

Inferred from mutant phenotype Ref.12. Source: DFLAT

retinoic acid metabolic process

Inferred from electronic annotation. Source: Ensembl

retinoid metabolic process

Traceable author statement. Source: Reactome

smooth muscle tissue development

Inferred from mutant phenotype Ref.12. Source: DFLAT

uterus morphogenesis

Inferred from mutant phenotype Ref.12. Source: DFLAT

ventricular septum development

Inferred from mutant phenotype Ref.12. Source: DFLAT

vitamin A import

Inferred from electronic annotation. Source: Ensembl

vocal learning

Inferred from mutant phenotype Ref.12. Source: DFLAT

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Traceable author statement. Source: Reactome

protein complex

Inferred from direct assay. Source: LIFEdb

   Molecular_functionreceptor activity

Inferred from electronic annotation. Source: InterPro

vitamin transporter activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BX79-1)

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.
Isoform 2 (identifier: Q9BX79-2)

The sequence of this isoform differs from the canonical sequence as follows:
     145-667: AWKILGLFYY...ALLGANGAQP → NLPKITELRLVRAWI
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9BX79-3)

The sequence of this isoform differs from the canonical sequence as follows:
     89-97: Missing.
Isoform 4 (identifier: Q9BX79-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGGKGGGDTRGPVLFPCQLAQALSPRRAFPRELKEKGQRM
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9BX79-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQIRLLRAELVVPLWQFIRQWPPGSDGWGQMEEKGQRM
Isoform 6 (identifier: Q9BX79-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDSQGDWAAQEKGQRM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 667667Stimulated by retinoic acid gene 6 protein homolog
PRO_0000311228

Regions

Topological domain1 – 5050Extracellular Potential
Transmembrane51 – 7121Helical; Potential
Topological domain72 – 10029Cytoplasmic Potential
Transmembrane101 – 12121Helical; Potential
Topological domain122 – 20483Extracellular Potential
Transmembrane205 – 22521Helical; Potential
Topological domain226 – 30176Cytoplasmic Potential
Transmembrane302 – 32221Helical; Potential
Topological domain323 – 3242Extracellular Potential
Transmembrane325 – 34521Helical; Potential
Topological domain346 – 36116Cytoplasmic Potential
Transmembrane362 – 38221Helical; Potential
Topological domain383 – 43957Extracellular Potential
Transmembrane440 – 46021Helical; Potential
Topological domain461 – 47414Cytoplasmic Potential
Transmembrane475 – 49521Helical; Potential
Topological domain496 – 50813Extracellular Potential
Transmembrane509 – 52921Helical; Potential
Topological domain530 – 667138Cytoplasmic Potential

Amino acid modifications

Glycosylation81N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence11M → MGGKGGGDTRGPVLFPCQLA QALSPRRAFPRELKEKGQRM in isoform 4.
VSP_029437
Alternative sequence11M → MQIRLLRAELVVPLWQFIRQ WPPGSDGWGQMEEKGQRM in isoform 5.
VSP_046776
Alternative sequence11M → MDSQGDWAAQEKGQRM in isoform 6.
VSP_047497
Alternative sequence89 – 979Missing in isoform 3.
VSP_029438
Alternative sequence145 – 667523AWKIL…NGAQP → NLPKITELRLVRAWI in isoform 2.
VSP_029439
Natural variant901P → L in MCOPS9. Ref.12
VAR_037168
Natural variant2171G → E in anophthalmia/microphthalmia. Ref.13
VAR_060203
Natural variant2931P → L in MCOPS9. Ref.12
VAR_037169
Natural variant3041G → K in MCOPS9; also found in a family with isolated colobomatous microphthalmia; affects STRA6 cell surface expression and retinol upatake; requires 2 nucleotide substitutions. Ref.11
VAR_066849
Natural variant3211T → P in MCOPS9. Ref.12
Corresponds to variant rs118203962 [ dbSNP | Ensembl ].
VAR_037170
Natural variant3391G → S. Ref.5 Ref.8
Corresponds to variant rs17852249 [ dbSNP | Ensembl ].
VAR_037171
Natural variant4381Q → R in anophthalmia/microphthalmia. Ref.14
VAR_060204
Natural variant5171L → F.
Corresponds to variant rs11545567 [ dbSNP | Ensembl ].
VAR_037172
Natural variant5271M → I. Ref.1 Ref.2 Ref.4
Corresponds to variant rs736118 [ dbSNP | Ensembl ].
VAR_037173
Natural variant6381R → P in anophthalmia/microphthalmia. Ref.14
VAR_060205
Natural variant6441T → M in MCOPS9. Ref.12
VAR_037174
Natural variant6551R → C in MCOPS9. Ref.12
VAR_037175

Experimental info

Sequence conflict951A → V in BAH12965. Ref.4
Sequence conflict4081R → Q in CAD97655. Ref.3
Sequence conflict4171I → M in BAH12965. Ref.4
Sequence conflict6351G → S in BAH13848. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: D20840A46998BA2E

FASTA66773,503
        10         20         30         40         50         60 
MSSQPAGNQT SPGATEDYSY GSWYIDEPQG GEELQPEGEV PSCHTSIPPG LYHACLASLS 

        70         80         90        100        110        120 
ILVLLLLAML VRRRQLWPDC VRGRPGLPSP VDFLAGDRPR AVPAAVFMVL LSSLCLLLPD 

       130        140        150        160        170        180 
EDALPFLTLA SAPSQDGKTE APRGAWKILG LFYYAALYYP LAACATAGHT AAHLLGSTLS 

       190        200        210        220        230        240 
WAHLGVQVWQ RAECPQVPKI YKYYSLLASL PLLLGLGFLS LWYPVQLVRS FSRRTGAGSK 

       250        260        270        280        290        300 
GLQSSYSEEY LRNLLCRKKL GSSYHTSKHG FLSWARVCLR HCIYTPQPGF HLPLKLVLSA 

       310        320        330        340        350        360 
TLTGTAIYQV ALLLLVGVVP TIQKVRAGVT TDVSYLLAGF GIVLSEDKQE VVELVKHHLW 

       370        380        390        400        410        420 
ALEVCYISAL VLSCLLTFLV LMRSLVTHRT NLRALHRGAA LDLSPLHRSP HPSRQAIFCW 

       430        440        450        460        470        480 
MSFSAYQTAF ICLGLLVQQI IFFLGTTALA FLVLMPVLHG RNLLLFRSLE SSWPFWLTLA 

       490        500        510        520        530        540 
LAVILQNMAA HWVFLETHDG HPQLTNRRVL YAATFLLFPL NVLVGAMVAT WRVLLSALYN 

       550        560        570        580        590        600 
AIHLGQMDLS LLPPRAATLD PGYYTYRNFL KIEVSQSHPA MTAFCSLLLQ AQSLLPRTMA 

       610        620        630        640        650        660 
APQDSLRPGE EDEGMQLLQT KDSMAKGARP GASRGRARWG LAYTLLHNPT LQVFRKTALL 


GANGAQP 

« Hide

Isoform 2 [UniParc].

Checksum: 7FB62BED986EC3B9
Show »

FASTA15917,190
Isoform 3 [UniParc].

Checksum: 54052F7AE58F82C9
Show »

FASTA65872,601
Isoform 4 [UniParc].

Checksum: CC091BBE74255CDA
Show »

FASTA70677,696
Isoform 5 [UniParc].

Checksum: 8E952666FFAAE051
Show »

FASTA70477,922
Isoform 6 [UniParc].

Checksum: 24CE3B0CC96D9FA5
Show »

FASTA68275,192

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ILE-527.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6."
Golzio C., Martinovic-Bouriel J., Thomas S., Mougou-Zrelli S., Grattagliano-Bessieres B., Bonniere M., Delahaye S., Munnich A., Encha-Razavi F., Lyonnet S., Vekemans M., Attie-Bitach T., Etchevers H.C.
Am. J. Hum. Genet. 80:1179-1187(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia."
Chassaing N., Golzio C., Odent S., Lequeux L., Vigouroux A., Martinovic-Bouriel J., Tiziano F.D., Masini L., Piro F., Maragliano G., Delezoide A.-L., Attie-Bitach T., Manouvrier-Hanu S., Etchevers H.C., Calvas P.
Hum. Mutat. 30:E673-E681(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ANOPHTHALMIA/MICROPHTHALMIA ARG-438 AND PRO-638.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001136089.1. NM_001142617.1.
NP_001136090.1. NM_001142618.1.
NP_001136091.1. NM_001142619.1.
NP_001136092.1. NM_001142620.1.
NP_001185969.1. NM_001199040.1.
NP_001185970.1. NM_001199041.1.
NP_001185971.1. NM_001199042.1.
NP_071764.3. NM_022369.3.
UniGeneHs.24553.

3D structure databases

ProteinModelPortalQ9BX79.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122110. 2 interactions.
MINTMINT-4722094.

Protein family/group databases

TCDB2.A.90.1.3. the vitamin a receptor/transporter (stra6) family.

PTM databases

PhosphoSiteQ9BX79.

Polymorphism databases

DMDM74733466.

Proteomic databases

PaxDbQ9BX79.
PRIDEQ9BX79.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323940; 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]
GeneID64220.
KEGGhsa:64220.
UCSCuc002axj.3. human. [Q9BX79-4]
uc002axk.3. human. [Q9BX79-1]
uc002axn.3. human. [Q9BX79-3]
uc010bjk.3. human. [Q9BX79-2]

Organism-specific databases

CTD64220.
GeneCardsGC15M074471.
HGNCHGNC:30650. STRA6.
HPAHPA040839.
MIM601186. phenotype.
610745. gene.
neXtProtNX_Q9BX79.
Orphanet98938. Colobomatous microphthalmia.
2470. Matthew-Wood syndrome.
PharmGKBPA134956551.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47654.
HOVERGENHBG106311.
InParanoidQ9BX79.
OMAAIFCWMS.
OrthoDBEOG7CRTPB.
PhylomeDBQ9BX79.
TreeFamTF331851.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

ArrayExpressQ9BX79.
BgeeQ9BX79.
CleanExHS_STRA6.
GenevestigatorQ9BX79.

Family and domain databases

InterProIPR026612. STRA6.
[Graphical view]
PANTHERPTHR21444:SF5. PTHR21444:SF5. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi64220.
NextBio66143.
PROQ9BX79.
SOURCESearch...

Entry information

Entry nameSTRA6_HUMAN
AccessionPrimary (citable) accession number: Q9BX79
Secondary accession number(s): A8K7F1 expand/collapse secondary AC list , B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9H9U8
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: June 1, 2001
Last modified: April 16, 2014
This is version 84 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM