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Protein

Homeobox protein OTX1

Gene

OTX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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'.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi38 – 9760HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB

GO - Biological processi

  1. anterior/posterior pattern specification Source: Ensembl
  2. diencephalon morphogenesis Source: Ensembl
  3. inner ear morphogenesis Source: Ensembl
  4. metencephalon development Source: Ensembl
  5. midbrain development Source: Ensembl
  6. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein OTX1
Alternative name(s):
Orthodenticle homolog 1
Gene namesi
Name:OTX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:8521. OTX1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA32848.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 354354Homeobox protein OTX1PRO_0000049207Add
BLAST

Proteomic databases

MaxQBiP32242.
PaxDbiP32242.
PRIDEiP32242.

PTM databases

PhosphoSiteiP32242.

Expressioni

Tissue specificityi

Expressed in brain. Detected in the anterior part of the neural fetal retina (at protein level).1 Publication

Developmental stagei

Embryo.

Gene expression databases

BgeeiP32242.
CleanExiHS_OTX1.
ExpressionAtlasiP32242. baseline and differential.
GenevestigatoriP32242.

Organism-specific databases

HPAiCAB012341.
HPA052122.

Interactioni

Protein-protein interaction databases

BioGridi111053. 38 interactions.
IntActiP32242. 8 interactions.
MINTiMINT-1437362.
STRINGi9606.ENSP00000282549.

Structurei

3D structure databases

ProteinModelPortaliP32242.
SMRiP32242. Positions 39-108.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi275 – 30127His-richAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG245767.
GeneTreeiENSGT00760000118908.
HOVERGENiHBG004028.
InParanoidiP32242.
KOiK09326.
OMAiTSYPMSY.
OrthoDBiEOG74J98P.
PhylomeDBiP32242.
TreeFamiTF351179.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003026. Otx1_TF.
IPR003025. Otx_TF.
IPR013851. Otx_TF_C.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03529. TF_Otx. 1 hit.
[Graphical view]
PRINTSiPR01256. OTX1HOMEOBOX.
PR01255. OTXHOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P32242-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MMSYLKQPPY GMNGLGLAGP AMDLLHPSVG YPATPRKQRR ERTTFTRSQL
60 70 80 90 100
DVLEALFAKT RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQSG
110 120 130 140 150
SGTKSRPAKK KSSPVRESSG SESSGQFTPP AVSSSASSSS SASSSSANPA
160 170 180 190 200
AAAAAGLGGN PVAAASSLST PAASSIWSPA SISPGSAPAS VSVPEPLAAP
210 220 230 240 250
SNTSCMQRSV AAGAATAAAS YPMSYGQGGS YGQGYPTPSS SYFGGVDCSS
260 270 280 290 300
YLAPMHSHHH PHQLSPMAPS SMAGHHHHHP HAHHPLSQSS GHHHHHHHHH
310 320 330 340 350
HQGYGGSGLA FNSADCLDYK EPGAAAASSA WKLNFNSPDC LDYKDQASWR

FQVL
Length:354
Mass (Da):37,327
Last modified:October 1, 1993 - v1
Checksum:iE32C1E47464BDDAA
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095680 mRNA. Translation: BAG53106.1.
AC009501 Genomic DNA. Translation: AAY24357.1.
CH471053 Genomic DNA. Translation: EAW99967.1.
BC007621 mRNA. Translation: AAH07621.1.
CCDSiCCDS1873.1.
PIRiS39406.
RefSeqiNP_001186699.1. NM_001199770.1.
NP_055377.1. NM_014562.3.
UniGeneiHs.734360.

Genome annotation databases

EnsembliENST00000282549; ENSP00000282549; ENSG00000115507.
ENST00000366671; ENSP00000355631; ENSG00000115507.
GeneIDi5013.
KEGGihsa:5013.
UCSCiuc002scd.3. human.

Polymorphism databases

DMDMi417425.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095680 mRNA. Translation: BAG53106.1.
AC009501 Genomic DNA. Translation: AAY24357.1.
CH471053 Genomic DNA. Translation: EAW99967.1.
BC007621 mRNA. Translation: AAH07621.1.
CCDSiCCDS1873.1.
PIRiS39406.
RefSeqiNP_001186699.1. NM_001199770.1.
NP_055377.1. NM_014562.3.
UniGeneiHs.734360.

3D structure databases

ProteinModelPortaliP32242.
SMRiP32242. Positions 39-108.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111053. 38 interactions.
IntActiP32242. 8 interactions.
MINTiMINT-1437362.
STRINGi9606.ENSP00000282549.

PTM databases

PhosphoSiteiP32242.

Polymorphism databases

DMDMi417425.

Proteomic databases

MaxQBiP32242.
PaxDbiP32242.
PRIDEiP32242.

Protocols and materials databases

DNASUi5013.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282549; ENSP00000282549; ENSG00000115507.
ENST00000366671; ENSP00000355631; ENSG00000115507.
GeneIDi5013.
KEGGihsa:5013.
UCSCiuc002scd.3. human.

Organism-specific databases

CTDi5013.
GeneCardsiGC02P063277.
HGNCiHGNC:8521. OTX1.
HPAiCAB012341.
HPA052122.
MIMi600036. gene.
neXtProtiNX_P32242.
PharmGKBiPA32848.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG245767.
GeneTreeiENSGT00760000118908.
HOVERGENiHBG004028.
InParanoidiP32242.
KOiK09326.
OMAiTSYPMSY.
OrthoDBiEOG74J98P.
PhylomeDBiP32242.
TreeFamiTF351179.

Miscellaneous databases

ChiTaRSiOTX1. human.
GeneWikiiOTX1.
GenomeRNAii5013.
NextBioi19298.
PROiP32242.
SOURCEiSearch...

Gene expression databases

BgeeiP32242.
CleanExiHS_OTX1.
ExpressionAtlasiP32242. baseline and differential.
GenevestigatoriP32242.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003026. Otx1_TF.
IPR003025. Otx_TF.
IPR013851. Otx_TF_C.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03529. TF_Otx. 1 hit.
[Graphical view]
PRINTSiPR01256. OTX1HOMEOBOX.
PR01255. OTXHOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiOTX1_HUMAN
AccessioniPrimary (citable) accession number: P32242
Secondary accession number(s): A6NHA2, B3KTJ4, Q53TG6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: February 4, 2015
This is version 137 of the entry and version 1 of the sequence. [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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.