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Protein

Retinal homeobox protein Rx

Gene

RAX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi136 – 195HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Retinal homeobox protein Rx
Alternative name(s):
Retina and anterior neural fold homeobox protein
Gene namesi
Name:RAX
Synonyms:RX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:18662. RAX.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, isolated, 3 (MCOP3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611038
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075630160Y → H in MCOP3; unknown pathological significance. 1 Publication1
Natural variantiVAR_075631187R → Q in MCOP3; unknown pathological significance. 1 Publication1
Natural variantiVAR_075632188R → Q in MCOP3; unknown pathological significance. 1 Publication1
Natural variantiVAR_034905192R → Q in MCOP3; does not affect nuclear localization; reduces DNA binding activity. 1 PublicationCorresponds to variant dbSNP:rs121909127Ensembl.1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi30062.
MalaCardsiRAX.
MIMi611038. phenotype.
OpenTargetsiENSG00000134438.
Orphaneti2542. Isolated anophthalmia - microphthalmia.
PharmGKBiPA38626.

Polymorphism and mutation databases

BioMutaiRAX.
DMDMi296452886.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492761 – 346Retinal homeobox protein RxAdd BLAST346

Proteomic databases

PaxDbiQ9Y2V3.
PeptideAtlasiQ9Y2V3.
PRIDEiQ9Y2V3.

PTM databases

iPTMnetiQ9Y2V3.
PhosphoSitePlusiQ9Y2V3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000134438.
CleanExiHS_RAX.
ExpressionAtlasiQ9Y2V3. baseline and differential.
GenevisibleiQ9Y2V3. HS.

Interactioni

Protein-protein interaction databases

BioGridi119034. 1 interactor.
STRINGi9606.ENSP00000334813.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2V3.
SMRiQ9Y2V3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi33 – 40Octapeptide motif8
Motifi323 – 336OARPROSITE-ProRule annotationAdd BLAST14
Motifi329 – 333Nuclear localization signalSequence analysis5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi276 – 282Poly-Pro7

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000147164.
HOVERGENiHBG021349.
InParanoidiQ9Y2V3.
KOiK09332.
OMAiYPCGPGF.
OrthoDBiEOG091G0NQL.
PhylomeDBiQ9Y2V3.
TreeFamiTF315976.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR003654. OAR_dom.
IPR032967. Rx.
PANTHERiPTHR24329:SF483. PTHR24329:SF483. 1 hit.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y2V3-1) [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
MHLPGCAPAM ADGSFSLAGH LLRSPGGSTS RLHSIEAILG FTKDDGILGT
60 70 80 90 100
FPAERGARGA KERDRRLGAR PACPKAPEEG SEPSPPPAPA PAPEYEAPRP
110 120 130 140 150
YCPKEPGEAR PSPGLPVGPA TGEAKLSEEE QPKKKHRRNR TTFTTYQLHE
160 170 180 190 200
LERAFEKSHY PDVYSREELA GKVNLPEVRV QVWFQNRRAK WRRQEKLEVS
210 220 230 240 250
SMKLQDSPLL SFSRSPPSAT LSPLGAGPGS GGGPAGGALP LESWLGPPLP
260 270 280 290 300
GGGATALQSL PGFGPPAQSL PASYTPPPPP PPFLNSPPLG PGLQPLAPPP
310 320 330 340
PSYPCGPGFG DKFPLDEADP RNSSIAALRL KAKEHIQAIG KPWQAL
Length:346
Mass (Da):36,676
Last modified:May 18, 2010 - v2
Checksum:iFEDA196F6A326F31
GO
Isoform 2 (identifier: Q9Y2V3-2) [UniParc]FASTAAdd to basket

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

Show »
Length:104
Mass (Da):10,651
Checksum:iD35EB2FD1A253508
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti107G → W in AAD23438 (PubMed:10625658).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02015044D → E1 PublicationCorresponds to variant dbSNP:rs2271733Ensembl.1
Natural variantiVAR_075630160Y → H in MCOP3; unknown pathological significance. 1 Publication1
Natural variantiVAR_075631187R → Q in MCOP3; unknown pathological significance. 1 Publication1
Natural variantiVAR_075632188R → Q in MCOP3; unknown pathological significance. 1 Publication1
Natural variantiVAR_034905192R → Q in MCOP3; does not affect nuclear localization; reduces DNA binding activity. 1 PublicationCorresponds to variant dbSNP:rs121909127Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05355897 – 104APRPYCPK → GVVPEPTG in isoform 2. 2 Publications8
Alternative sequenceiVSP_053559105 – 346Missing in isoform 2. 2 PublicationsAdd BLAST242

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF115392 mRNA. Translation: AAD23438.1.
AB593018 mRNA. Translation: BAJ83973.1.
AC067859 Genomic DNA. No translation available.
BC051901 mRNA. Translation: AAH51901.1.
CCDSiCCDS11972.1. [Q9Y2V3-1]
RefSeqiNP_038463.2. NM_013435.2. [Q9Y2V3-1]
UniGeneiHs.278957.

Genome annotation databases

EnsembliENST00000256852; ENSP00000256852; ENSG00000134438. [Q9Y2V3-2]
ENST00000334889; ENSP00000334813; ENSG00000134438. [Q9Y2V3-1]
GeneIDi30062.
KEGGihsa:30062.
UCSCiuc002lhx.3. human. [Q9Y2V3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiRX_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2V3
Secondary accession number(s): Q86V11
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: May 18, 2010
Last modified: May 10, 2017
This is version 146 of the entry and version 2 of the sequence. See 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 18
    Human chromosome 18: 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
  5. SIMILARITY comments
    Index of protein domains and families