ID   PITX3_HUMAN             Reviewed;         302 AA.
AC   O75364;
DT   15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   10-JUL-2007, entry version 64.
DE   Pituitary homeobox 3 (Homeobox protein PITX3).
GN   Name=PITX3; Synonyms=PTX3;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], VARIANT ADCC ASN-13, AND INVOLVEMENT IN
RP   ASMD.
RC   TISSUE=Craniofacial;
RX   MEDLINE=98282096; PubMed=9620774; DOI=10.1038/527;
RA   Semina E.V., Ferrell R.E., Mintz-Hittner H.A., Bitoun P.,
RA   Alward W.L.M., Reiter R.S., Funkhauser C., Daack-Hirsch S.,
RA   Murray J.C.;
RT   "A novel homeobox gene PITX3 is mutated in families with autosomal-
RT   dominant cataracts and ASMD.";
RL   Nat. Genet. 19:167-170(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Muscle;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: May play a role in normal anterior-chamber and lens
CC       development.
CC   -!- SUBCELLULAR LOCATION: Nucleus (By similarity).
CC   -!- TISSUE SPECIFICITY: Highly expressed in developing eye lens.
CC   -!- DISEASE: Defects in PITX3 are a cause of autosomal dominant
CC       congenital cataract (ADCC) [MIM:602669]. ADCC is characterized by
CC       dominant transmission of a phenotype consisting of bilateral
CC       congenital cataracts in a mother and son without clinical
CC       anterior-segment anomalies.
CC   -!- DISEASE: Defects in PITX3 may be the cause of anterior segment
CC       mesenchymal dysgenesis (ASMD) [MIM:107250]; also known as anterior
CC       segment ocular dysgenesis (ASOD). ASMD includes all malformations
CC       involving the first (corneal endothelium and trabecular meshwork),
CC       second (corneal stroma) and third (iris stroma) mesenchymal waves
CC       of neural crest. The ASMD phenotype is characterized by corneal
CC       opacities with or without iris adhesions in 100%, cataracts of
CC       varying severity in 100% and optic-nerve abnormalities in 20% of
CC       affected individuals.
CC   -!- SIMILARITY: Belongs to the paired homeobox family. Bicoid
CC       subfamily.
CC   -!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
CC   -!- SIMILARITY: Contains 1 OAR domain.
CC   -!- WEB RESOURCE: NAME=GeneReviews;
CC       URL="http://www.genetests.org/query?gene=PITX3".
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DR   EMBL; AF041339; AAC24502.1; -; mRNA.
DR   EMBL; BC011642; AAH11642.1; -; mRNA.
DR   UniGene; Hs.137568; -.
DR   HSSP; P06601; 1FJL.
DR   SMR; O75364; 62-121.
DR   TRANSFAC; T04311; -.
DR   Ensembl; ENSG00000107859; Homo sapiens.
DR   KEGG; hsa:5309; -.
DR   H-InvDB; HIX0009152; -.
DR   HGNC; HGNC:9006; PITX3.
DR   MIM; 107250; phenotype.
DR   MIM; 602669; gene+phenotype.
DR   Orphanet; 161; Cataract, total congenital.
DR   Orphanet; 162; Cataract-glaucoma.
DR   Orphanet; 88632; Ocular anterior segment mesenchymal dysgenesis, familial.
DR   PharmGKB; PA33340; -.
DR   ArrayExpress; O75364; -.
DR   GermOnline; ENSG00000107859; Homo sapiens.
DR   RZPD-ProtExp; Q0466; -.
DR   RZPD-ProtExp; RZPDo839F09135; -.
DR   RZPD-ProtExp; RZPDo839F10136; -.
DR   GO; GO:0009887; P:organ morphogenesis; TAS:ProtInc.
DR   InterPro; IPR003654; Homeo_OAR.
DR   InterPro; IPR001356; Homeobox.
DR   InterPro; IPR012287; Homeodomain-rel.
DR   Gene3D; G3DSA:1.10.10.60; Homeodomain-rel; 1.
DR   Pfam; PF00046; Homeobox; 1.
DR   Pfam; PF03826; OAR; 1.
DR   PRINTS; PR00024; HOMEOBOX.
DR   ProDom; PD000010; Homeobox; 1.
DR   SMART; SM00389; HOX; 1.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 1.
DR   PROSITE; PS50803; OAR; 1.
KW   Cataract; Developmental protein; Disease mutation; DNA-binding;
KW   Homeobox; Nucleus.
FT   CHAIN         1    302       Pituitary homeobox 3.
FT                                /FTId=PRO_0000049229.
FT   DNA_BIND     62    121       Homeobox.
FT   MOTIF       262    275       OAR.
FT   MOTIF       268    272       Nuclear localization signal (Potential).
FT   COMPBIAS    240    250       Poly-Ala.
FT   VARIANT      13     13       S -> N (in ADCC).
FT                                /FTId=VAR_003767.
SQ   SEQUENCE   302 AA;  31832 MW;  1E5259206ABC2E87 CRC64;
     MEFGLLSEAE ARSPALSLSD AGTPHPQLPE HGCKGQEHSD SEKASASLPG GSPEDGSLKK
     KQRRQRTHFT SQQLQELEAT FQRNRYPDMS TREEIAVWTN LTEARVRVWF KNRRAKWRKR
     ERSQQAELCK GSFAAPLGGL VPPYEEVYPG YSYGNWPPKA LAPPLAAKTF PFAFNSVNVG
     PLASQPVFSP PSSIAASMVP SAAAAPGTVP GPGALQGLGG GPPGLAPAAV SSGAVSCPYA
     SAAAAAAAAA SSPYVYRDPC NSSLASLRLK AKQHASFSYP AVHGPPPAAN LSPCQYAVER
     PV
//