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Q9Y2V3 (RX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Retinal homeobox protein Rx
Alternative name(s):
Retina and anterior neural fold homeobox protein
Gene names
Name:RAX
Synonyms:RX
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length346 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter.

Subcellular location

Nucleus.

Tissue specificity

Expressed in the developing eye and weakly expressed in the adult retina.

Involvement in disease

Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the paired homeobox family. Bicoid subfamily.

Contains 1 homeobox DNA-binding domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y2V3-1)

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: Q9Y2V3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     97-104: APRPYCPK → GVVPEPTG
     105-346: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 346346Retinal homeobox protein Rx
PRO_0000049276

Regions

DNA binding136 – 19560Homeobox
Motif33 – 408Octapeptide motif
Motif323 – 33614OAR
Motif329 – 3335Nuclear localization signal Potential
Compositional bias276 – 2827Poly-Pro

Natural variations

Alternative sequence97 – 1048APRPYCPK → GVVPEPTG in isoform 2.
VSP_053558
Alternative sequence105 – 346242Missing in isoform 2.
VSP_053559
Natural variant441D → E. Ref.5
Corresponds to variant rs2271733 [ dbSNP | Ensembl ].
VAR_020150
Natural variant1921R → Q in MCOP3; does not affect nuclear localization; reduces DNA binding activity. Ref.5
VAR_034905

Experimental info

Sequence conflict1071G → W in AAD23438. Ref.1

Sequences

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

Last modified May 18, 2010. Version 2.
Checksum: FEDA196F6A326F31

FASTA34636,676
        10         20         30         40         50         60 
MHLPGCAPAM ADGSFSLAGH LLRSPGGSTS RLHSIEAILG FTKDDGILGT FPAERGARGA 

        70         80         90        100        110        120 
KERDRRLGAR PACPKAPEEG SEPSPPPAPA PAPEYEAPRP YCPKEPGEAR PSPGLPVGPA 

       130        140        150        160        170        180 
TGEAKLSEEE QPKKKHRRNR TTFTTYQLHE LERAFEKSHY PDVYSREELA GKVNLPEVRV 

       190        200        210        220        230        240 
QVWFQNRRAK WRRQEKLEVS SMKLQDSPLL SFSRSPPSAT LSPLGAGPGS GGGPAGGALP 

       250        260        270        280        290        300 
LESWLGPPLP GGGATALQSL PGFGPPAQSL PASYTPPPPP PPFLNSPPLG PGLQPLAPPP 

       310        320        330        340 
PSYPCGPGFG DKFPLDEADP RNSSIAALRL KAKEHIQAIG KPWQAL 

« Hide

Isoform 2 [UniParc].

Checksum: D35EB2FD1A253508
Show »

FASTA10410,651

References

« Hide 'large scale' references
[1]"Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression."
Kimura A., Singh D., Wawrousek E.F., Kikuchi M., Nakamura M., Shinohara T.
J. Biol. Chem. 275:1152-1160(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Retina.
[2]"Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method."
Oshikawa M., Tsutsui C., Ikegami T., Fuchida Y., Matsubara M., Toyama S., Usami R., Ohtoko K., Kato S.
Invest. Ophthalmol. Vis. Sci. 52:6662-6670(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Retinoblastoma.
[3]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORM 2).
Tissue: Eye.
[5]"Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea."
Voronina V.A., Kozhemyakina E.A., O'Kernick C.M., Kahn N.D., Wenger S.L., Linberg J.V., Schneider A.S., Mathers P.H.
Hum. Mol. Genet. 13:315-322(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCOP3 GLN-192, VARIANT GLU-44, CHARACTERIZATION OF VARIANT GLU-44, CHARACTERIZATION OF VARIANT MCOP3 GLN-192.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF115392 mRNA. Translation: AAD23438.1.
AB593018 mRNA. Translation: BAJ83973.1.
AC067859 Genomic DNA. No translation available.
BC051901 mRNA. Translation: AAH51901.1.
RefSeqNP_038463.2. NM_013435.2.
UniGeneHs.278957.

3D structure databases

ProteinModelPortalQ9Y2V3.
SMRQ9Y2V3. Positions 142-192.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119034. 1 interaction.
STRING9606.ENSP00000334813.

PTM databases

PhosphoSiteQ9Y2V3.

Polymorphism databases

DMDM296452886.

Proteomic databases

PaxDbQ9Y2V3.
PRIDEQ9Y2V3.

Protocols and materials databases

DNASU30062.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256852; ENSP00000256852; ENSG00000134438. [Q9Y2V3-2]
ENST00000334889; ENSP00000334813; ENSG00000134438. [Q9Y2V3-1]
GeneID30062.
KEGGhsa:30062.
UCSCuc002lhx.3. human. [Q9Y2V3-1]
uc010dpp.3. human.

Organism-specific databases

CTD30062.
GeneCardsGC18M056909.
H-InvDBHIX0202674.
HGNCHGNC:18662. RAX.
MIM601881. gene.
611038. phenotype.
neXtProtNX_Q9Y2V3.
Orphanet2542. Isolated anophthalmia - microphthalmia.
PharmGKBPA38626.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261733.
HOGENOMHOG000231518.
HOVERGENHBG021349.
InParanoidQ9Y2V3.
KOK09332.
OMACGPGFGD.
PhylomeDBQ9Y2V3.
TreeFamTF315976.

Gene expression databases

ArrayExpressQ9Y2V3.
BgeeQ9Y2V3.
CleanExHS_RAX.
GenevestigatorQ9Y2V3.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRAX. human.
GenomeRNAi30062.
NextBio52852.
PROQ9Y2V3.
SOURCESearch...

Entry information

Entry nameRX_HUMAN
AccessionPrimary (citable) accession number: Q9Y2V3
Secondary accession number(s): Q86V11
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: May 18, 2010
Last modified: March 19, 2014
This is version 121 of the entry and version 2 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

SIMILARITY comments

Index of protein domains and families

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 18

Human chromosome 18: entries, gene names and cross-references to MIM