Q9Y2V3 (RX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Retinal homeobox protein Rx

Alternative name(s):
Retina and anterior neural fold homeobox protein

Gene names

Name:	RAX
Synonyms:	RX

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	346 AA.
Sequence status	Complete.
Protein existence	Evidence 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, cataract and other abnormalities like cataract may also be present. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3
Sequence similarities	Belongs to the paired homeobox family. Bicoid subfamily. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation Microphthalmia
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	camera-type eye development Inferred from electronic annotation. Source: Compara hypothalamus development Inferred from electronic annotation. Source: Compara limb development Inferred from electronic annotation. Source: Compara pattern specification process Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW visual perception Traceable author statement Ref.1. Source: ProtInc
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 346	346	Retinal homeobox protein Rx		PRO_0000049276
Regions
	DNA binding	136 – 195	60	Homeobox
	Motif	33 – 40	8	Octapeptide motif
	Motif	323 – 336	14	OAR
	Motif	329 – 333	5	Nuclear localization signal Potential
	Compositional bias	276 – 282	7	Poly-Pro
Natural variations
	Natural variant	44	1	D → E. Ref.3 Corresponds to variant rs2271733 [ dbSNP | Ensembl ].		VAR_020150
	Natural variant	192	1	R → Q in MCOP3; does not affect nuclear localization; reduces DNA binding activity. Ref.3		VAR_034905
Experimental info
	Sequence conflict	107	1	G → W in AAD23438. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9Y2V3 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: FEDA196F6A326F31	FASTA	346	36,676
	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

References

	« Hide 'large scale' referencesShow '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]. Tissue: Retina.
[2]	"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. , 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].
[3]	"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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF115392 mRNA. Translation: AAD23438.1. AC067859 Genomic DNA. No translation available.
IPI	IPI00021025.
RefSeq	NP_038463.2. NM_013435.2.
UniGene	Hs.278957.
3D structure databases
ProteinModelPortal	Q9Y2V3.
SMR	Q9Y2V3. Positions 142-192.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000334813.
PTM databases
PhosphoSite	Q9Y2V3.
Polymorphism databases
DMDM	296452886.
Proteomic databases
PaxDb	Q9Y2V3.
PRIDE	Q9Y2V3.
Protocols and materials databases
DNASU	30062.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000334889; ENSP00000334813; ENSG00000134438.
GeneID	30062.
KEGG	hsa:30062.
UCSC	uc002lhx.3. human.
Organism-specific databases
CTD	30062.
GeneCards	GC18M056909.
H-InvDB	HIX0202674.
HGNC	HGNC:18662. RAX.
MIM	601881. gene. 611038. phenotype.
neXtProt	NX_Q9Y2V3.
Orphanet	2542. Isolated anophthalmia - microphthalmia.
PharmGKB	PA38626.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG261733.
HOGENOM	HOG000231518.
HOVERGEN	HBG021349.
InParanoid	Q9Y2V3.
KO	K09332.
OMA	CGPGFGD.
OrthoDB	EOG4V4387.
PhylomeDB	Q9Y2V3.
Gene expression databases
ArrayExpress	Q9Y2V3.
Bgee	Q9Y2V3.
CleanEx	HS_RAX.
Genevestigator	Q9Y2V3.
GermOnline	ENSG00000134438. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR003654. OAR_dom. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. PF03826. OAR. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS50803. OAR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RAX. human.
GenomeRNAi	30062.
NextBio	52852.
SOURCE	Search...

Entry information

Entry name

RX_HUMAN

Accession

Primary (citable) accession number: Q9Y2V3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 114 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.