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P32242 (OTX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein OTX1
Alternative name(s):
Orthodenticle homolog 1
Gene names
Name:OTX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length354 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'.

Subcellular location

Nucleus Probable.

Tissue specificity

Expressed in brain. Detected in the anterior part of the neural fetal retina (at protein level). Ref.6

Developmental stage

Embryo.

Sequence similarities

Belongs to the paired homeobox family. Bicoid subfamily.

Contains 1 homeobox DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 354354Homeobox protein OTX1
PRO_0000049207

Regions

DNA binding38 – 9760Homeobox
Compositional bias275 – 30127His-rich

Sequences

Sequence LengthMass (Da)Tools
P32242 [UniParc].

Last modified October 1, 1993. Version 1.
Checksum: E32C1E47464BDDAA

FASTA35437,327
        10         20         30         40         50         60 
MMSYLKQPPY GMNGLGLAGP AMDLLHPSVG YPATPRKQRR ERTTFTRSQL DVLEALFAKT 

        70         80         90        100        110        120 
RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQSG SGTKSRPAKK KSSPVRESSG 

       130        140        150        160        170        180 
SESSGQFTPP AVSSSASSSS SASSSSANPA AAAAAGLGGN PVAAASSLST PAASSIWSPA 

       190        200        210        220        230        240 
SISPGSAPAS VSVPEPLAAP SNTSCMQRSV AAGAATAAAS YPMSYGQGGS YGQGYPTPSS 

       250        260        270        280        290        300 
SYFGGVDCSS YLAPMHSHHH PHQLSPMAPS SMAGHHHHHP HAHHPLSQSS GHHHHHHHHH 

       310        320        330        340        350 
HQGYGGSGLA FNSADCLDYK EPGAAAASSA WKLNFNSPDC LDYKDQASWR FQVL 

« Hide

References

« Hide 'large scale' references
[1]"A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo."
Simeone A., Acampora D., Mallamaci A., Stornaiuolo A., D'Apice M.R., Nigro V., Boncinelli E.
EMBO J. 12:2735-2747(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"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].
Tissue: Brain.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton 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].
[5]"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].
Tissue: Eye.
[6]"Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina."
Larsen K.B., Lutterodt M., Rath M.F., Moeller M.
Int. J. Dev. Neurosci. 27:485-492(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK095680 mRNA. Translation: BAG53106.1.
AC009501 Genomic DNA. Translation: AAY24357.1.
CH471053 Genomic DNA. Translation: EAW99967.1.
BC007621 mRNA. Translation: AAH07621.1.
PIRS39406.
RefSeqNP_001186699.1. NM_001199770.1.
NP_055377.1. NM_014562.3.
UniGeneHs.734360.

3D structure databases

ProteinModelPortalP32242.
SMRP32242. Positions 39-108.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111053. 4 interactions.
IntActP32242. 8 interactions.
MINTMINT-1437362.
STRING9606.ENSP00000282549.

PTM databases

PhosphoSiteP32242.

Polymorphism databases

DMDM417425.

Proteomic databases

PaxDbP32242.
PRIDEP32242.

Protocols and materials databases

DNASU5013.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000282549; ENSP00000282549; ENSG00000115507.
ENST00000366671; ENSP00000355631; ENSG00000115507.
GeneID5013.
KEGGhsa:5013.
UCSCuc002scd.3. human.

Organism-specific databases

CTD5013.
GeneCardsGC02P063277.
HGNCHGNC:8521. OTX1.
HPACAB012341.
HPA052122.
MIM600036. gene.
neXtProtNX_P32242.
PharmGKBPA32848.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245767.
HOVERGENHBG004028.
InParanoidP32242.
KOK09326.
OMAQTAASSW.
OrthoDBEOG74J98P.
PhylomeDBP32242.
TreeFamTF351179.

Gene expression databases

ArrayExpressP32242.
BgeeP32242.
CleanExHS_OTX1.
GenevestigatorP32242.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003026. Otx1_TF.
IPR003025. Otx_TF.
IPR013851. Otx_TF_C.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF03529. TF_Otx. 1 hit.
[Graphical view]
PRINTSPR01256. OTX1HOMEOBOX.
PR01255. OTXHOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiOTX1.
GenomeRNAi5013.
NextBio19298.
PROP32242.
SOURCESearch...

Entry information

Entry nameOTX1_HUMAN
AccessionPrimary (citable) accession number: P32242
Secondary accession number(s): A6NHA2, B3KTJ4, Q53TG6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: March 19, 2014
This is version 131 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM