OTP_HUMAN
ID OTP_HUMAN Reviewed; 325 AA.
AC Q5XKR4;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-NOV-2004, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Homeobox protein orthopedia;
GN Name=OTP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP IDENTIFICATION, DEVELOPMENTAL STAGE, AND SUBCELLULAR LOCATION.
RX PubMed=10458915; DOI=10.1006/geno.1999.5882;
RA Lin X., State M.W., Vaccarino F.M., Greally J., Hass M., Leckman J.F.;
RT "Identification, chromosomal assignment, and expression analysis of the
RT human homeodomain-containing gene Orthopedia (OTP).";
RL Genomics 60:96-104(1999).
CC -!- FUNCTION: Probably involved in the differentiation of hypothalamic
CC neuroendocrine cells.
CC -!- INTERACTION:
CC Q5XKR4; Q9HBH7: BEX1; NbExp=3; IntAct=EBI-12865884, EBI-7162175;
CC Q5XKR4; O00585: CCL21; NbExp=3; IntAct=EBI-12865884, EBI-953695;
CC Q5XKR4; Q00534: CDK6; NbExp=3; IntAct=EBI-12865884, EBI-295663;
CC Q5XKR4; Q9UBL6-2: CPNE7; NbExp=3; IntAct=EBI-12865884, EBI-12012272;
CC Q5XKR4; O95936-4: EOMES; NbExp=3; IntAct=EBI-12865884, EBI-19949518;
CC Q5XKR4; O43924: PDE6D; NbExp=3; IntAct=EBI-12865884, EBI-712685;
CC Q5XKR4; Q9Y666-2: SLC12A7; NbExp=3; IntAct=EBI-12865884, EBI-12854384;
CC Q5XKR4; Q68CL5: TPGS2; NbExp=3; IntAct=EBI-12865884, EBI-748091;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,
CC ECO:0000255|PROSITE-ProRule:PRU00138, ECO:0000269|PubMed:10458915}.
CC -!- DEVELOPMENTAL STAGE: Present in fetal hypothalamus at 19 weeks of
CC gestation (at protein level). {ECO:0000269|PubMed:10458915}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. Bicoid subfamily.
CC {ECO:0000305}.
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DR EMBL; BC001800; AAH01800.1; -; mRNA.
DR CCDS; CCDS4039.1; -.
DR RefSeq; NP_115485.1; NM_032109.2.
DR AlphaFoldDB; Q5XKR4; -.
DR SMR; Q5XKR4; -.
DR BioGRID; 117008; 18.
DR IntAct; Q5XKR4; 9.
DR STRING; 9606.ENSP00000302814; -.
DR iPTMnet; Q5XKR4; -.
DR PhosphoSitePlus; Q5XKR4; -.
DR BioMuta; OTP; -.
DR DMDM; 74762283; -.
DR MassIVE; Q5XKR4; -.
DR PaxDb; Q5XKR4; -.
DR PeptideAtlas; Q5XKR4; -.
DR PRIDE; Q5XKR4; -.
DR ProteomicsDB; 65833; -.
DR Antibodypedia; 12584; 140 antibodies from 23 providers.
DR DNASU; 23440; -.
DR Ensembl; ENST00000306422.5; ENSP00000302814.3; ENSG00000171540.8.
DR GeneID; 23440; -.
DR KEGG; hsa:23440; -.
DR MANE-Select; ENST00000306422.5; ENSP00000302814.3; NM_032109.3; NP_115485.1.
DR UCSC; uc003kfg.4; human.
DR CTD; 23440; -.
DR DisGeNET; 23440; -.
DR GeneCards; OTP; -.
DR HGNC; HGNC:8518; OTP.
DR HPA; ENSG00000171540; Tissue enriched (brain).
DR MIM; 604529; gene.
DR neXtProt; NX_Q5XKR4; -.
DR OpenTargets; ENSG00000171540; -.
DR PharmGKB; PA32844; -.
DR VEuPathDB; HostDB:ENSG00000171540; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000159952; -.
DR HOGENOM; CLU_056068_0_0_1; -.
DR InParanoid; Q5XKR4; -.
DR OMA; MLPGEDI; -.
DR OrthoDB; 1243020at2759; -.
DR PhylomeDB; Q5XKR4; -.
DR TreeFam; TF351614; -.
DR PathwayCommons; Q5XKR4; -.
DR SignaLink; Q5XKR4; -.
DR BioGRID-ORCS; 23440; 11 hits in 1090 CRISPR screens.
DR ChiTaRS; OTP; human.
DR GenomeRNAi; 23440; -.
DR Pharos; Q5XKR4; Tbio.
DR PRO; PR:Q5XKR4; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q5XKR4; protein.
DR Bgee; ENSG00000171540; Expressed in pancreatic ductal cell and 18 other tissues.
DR Genevisible; Q5XKR4; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0001650; C:fibrillar center; IDA:HPA.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0003677; F:DNA binding; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0071542; P:dopaminergic neuron differentiation; IEA:Ensembl.
DR GO; GO:0021879; P:forebrain neuron differentiation; IEA:Ensembl.
DR GO; GO:0021979; P:hypothalamus cell differentiation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0007405; P:neuroblast proliferation; IEA:Ensembl.
DR GO; GO:0061101; P:neuroendocrine cell differentiation; IEA:Ensembl.
DR GO; GO:0021985; P:neurohypophysis development; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0002052; P:positive regulation of neuroblast proliferation; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR000047; HTH_motif.
DR InterPro; IPR003654; OAR_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF03826; OAR; 1.
DR PRINTS; PR00031; HTHREPRESSR.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS50803; OAR; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Differentiation; DNA-binding; Homeobox;
KW Neurogenesis; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..325
FT /note="Homeobox protein orthopedia"
FT /id="PRO_0000292432"
FT DNA_BIND 104..163
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 32..112
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 306..319
FT /note="OAR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00138"
FT COMPBIAS 88..102
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 325 AA; 34159 MW; 429E3A91E0A9BA5F CRC64;
MLSHADLLDA RLGMKDAAEL LGHREAVKCR LGVGGSDPGG HPGDLAPNSD PVEGATLLPG
EDITTVGSTP ASLAVSAKDP DKQPGPQGGP NPSQAGQQQG QQKQKRHRTR FTPAQLNELE
RSFAKTHYPD IFMREELALR IGLTESRVQV WFQNRRAKWK KRKKTTNVFR APGTLLPTPG
LPQFPSAAAA AAAAMGDSLC SFHANDTRWA AAAMPGVSQL PLPPALGRQQ AMAQSLSQCS
LAAGPPPNSM GLSNSLAGSN GAGLQSHLYQ PAFPGMVPAS LPGPSNVSGS PQLCSSPDSS
DVWRGTSIAS LRRKALEHTV SMSFT
