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2025-05-09 19:25:04, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005029 1407 bp mRNA linear PRI 28-MAY-2013
DEFINITION Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.
ACCESSION NM_005029
VERSION NM_005029.3 GI:24234713
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1407)
AUTHORS Tang,L., Zhao,S., Wang,M., Sheth,A., Zhao,Z., Chen,L., Fan,X. and
Chen,L.
TITLE Meta-analysis of association between PITX3 gene polymorphism and
Parkinson's disease
JOURNAL J. Neurol. Sci. 317 (1-2), 80-86 (2012)
PUBMED 22429667
REMARK GeneRIF: Presence of the rs4919621 allele A in PITX3 significantly
increases the risk of Parkinson's disease (PD) patients in a
Caucasian population, while rs2281983 allele C and rs4919621 allele
A were both risk factors in early onset PD.
REFERENCE 2 (bases 1 to 1407)
AUTHORS Liu,H., Wei,L., Tao,Q., Deng,H., Ming,M., Xu,P. and Le,W.
TITLE Decreased NURR1 and PITX3 gene expression in Chinese patients with
Parkinson's disease
JOURNAL Eur. J. Neurol. 19 (6), 870-875 (2012)
PUBMED 22309633
REMARK GeneRIF: This study provided that NURR1 and PITX3 gene expression
is decreased in the peripheral blood lymphocytes of Chinese
patients with Parkinson's disease patients.
REFERENCE 3 (bases 1 to 1407)
AUTHORS Derwinska,K., Mierzewska,H., Goszczanska,A., Szczepanik,E., Xia,Z.,
Kusmierska,K., Tryfon,J., Kutkowska-Kazmierczak,A., Bocian,E.,
Mazurczak,T., Obersztyn,E. and Stankiewicz,P.
TITLE Clinical improvement of the aggressive neurobehavioral phenotype in
a patient with a deletion of PITX3 and the absence of L-DOPA in the
cerebrospinal fluid
JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (2), 236-242
(2012)
PUBMED 22223473
REMARK GeneRIF: Deletion of PITX3 is associated with aggressive
neurobehavioral phenotype in Smith-Magenis Syndrome.
REFERENCE 4 (bases 1 to 1407)
AUTHORS Gui,Y., Zhao,Y., Liu,H., Fu,J., Xu,Z. and Hu,X.
TITLE A novel synonymous SNP in PITX3 is associated with Parkinson's
disease in Chinese population
JOURNAL Swiss Med Wkly 142, W13521 (2012)
PUBMED 22411443
REMARK GeneRIF: novel synonymous SNP in PITX3 gene may contribute to PD
risk in the Chinese population.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 1407)
AUTHORS Chograni,M., Chaabouni,M., Maazoul,F., Bouzid,H., Kraiem,A. and
Chaabouni,H.B.
TITLE Absence of mutations in four genes encoding for congenital cataract
and expressed in the human brain in Tunisian families with cataract
and mental retardation
JOURNAL BMC Ophthalmol 11, 35 (2011)
PUBMED 22103961
REMARK GeneRIF: we report the absence of mutations in all studied genes in
four families with phenotypes associating cataract, mental
retardation and microcephaly.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 1407)
AUTHORS Martinat,C., Bacci,J.J., Leete,T., Kim,J., Vanti,W.B., Newman,A.H.,
Cha,J.H., Gether,U., Wang,H. and Abeliovich,A.
TITLE Cooperative transcription activation by Nurr1 and Pitx3 induces
embryonic stem cell maturation to the midbrain dopamine neuron
phenotype
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 103 (8), 2874-2879 (2006)
PUBMED 16477036
REMARK GeneRIF: Nurr1 and Pitx3 cooperatively promote terminal maturation
to the midbrain dopamine neuron phenotype in murine and human ES
cell cultures.
REFERENCE 7 (bases 1 to 1407)
AUTHORS Finzi,S., Li,Y., Mitchell,T.N., Farr,A., Maumenee,I.H., Sallum,J.M.
and Sundin,O.
TITLE Posterior polar cataract: genetic analysis of a large family
JOURNAL Ophthalmic Genet. 26 (3), 125-130 (2005)
PUBMED 16272057
REMARK GeneRIF: we mapped dominant congenital posterior polar cataracts to
chromosome 10q24. On sequencing the coding region of PITX3, we
found a 17-base-pair duplication in exon 4.
REFERENCE 8 (bases 1 to 1407)
AUTHORS Berry,V., Yang,Z., Addison,P.K., Francis,P.J., Ionides,A.,
Karan,G., Jiang,L., Lin,W., Hu,J., Yang,R., Moore,A., Zhang,K. and
Bhattacharya,S.S.
TITLE Recurrent 17 bp duplication in PITX3 is primarily associated with
posterior polar cataract (CPP4)
JOURNAL J. Med. Genet. 41 (8), E109 (2004)
PUBMED 15286169
REMARK GeneRIF: A family with posterior polar cataract with a novel
deletion mutation in PITX3.
REFERENCE 9 (bases 1 to 1407)
AUTHORS Semina,E.V., Ferrell,R.E., Mintz-Hittner,H.A., Bitoun,P.,
Alward,W.L., Reiter,R.S., Funkhauser,C., Daack-Hirsch,S. and
Murray,J.C.
TITLE A novel homeobox gene PITX3 is mutated in families with
autosomal-dominant cataracts and ASMD
JOURNAL Nat. Genet. 19 (2), 167-170 (1998)
PUBMED 9620774
REFERENCE 10 (bases 1 to 1407)
AUTHORS Hittner,H.M., Kretzer,F.L., Antoszyk,J.H., Ferrell,R.E. and
Mehta,R.S.
TITLE Variable expressivity of autosomal dominant anterior segment
mesenchymal dysgenesis in six generations
JOURNAL Am. J. Ophthalmol. 93 (1), 57-70 (1982)
PUBMED 6801987
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC011642.2.
This sequence is a reference standard in the RefSeqGene project.
On Oct 22, 2002 this sequence version replaced gi:21361258.
Summary: This gene encodes a member of the RIEG/PITX homeobox
family, which is in the bicoid class of homeodomain proteins.
Members of this family act as transcription factors. This protein
is involved in lens formation during eye development. Mutations of
this gene have been associated with anterior segment mesenchymal
dysgenesis and congenital cataracts. [provided by RefSeq, Jul
2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC011642.2, CD675151.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025099 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..1407
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q24.32"
gene 1..1407
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/note="paired-like homeodomain 3"
/db_xref="GeneID:5309"
/db_xref="HGNC:9006"
/db_xref="HPRD:04051"
/db_xref="MIM:602669"
exon 1..142
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/inference="alignment:Splign:1.39.8"
misc_feature 89..91
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/note="upstream in-frame stop codon"
exon 143..272
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/inference="alignment:Splign:1.39.8"
CDS 155..1063
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/note="homeobox protein PITX3"
/codon_start=1
/product="pituitary homeobox 3"
/protein_id="NP_005020.1"
/db_xref="GI:4826912"
/db_xref="CCDS:CCDS7532.1"
/db_xref="GeneID:5309"
/db_xref="HGNC:9006"
/db_xref="HPRD:04051"
/db_xref="MIM:602669"
/translation="
MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERSQQAELCKGSFAAPLGGLVPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGGPPGLAPAAVSSGAVSCPYASAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVHGPPPAANLSPCQYAVERPV
"
misc_feature 341..517
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/note="Homeodomain; DNA binding domains involved in the
transcriptional regulation of key eukaryotic developmental
processes; may bind to DNA as monomers or as homo- and/or
heterodimers, in a sequence-specific manner; Region:
homeodomain; cd00086"
/db_xref="CDD:28970"
misc_feature order(341..355,359..361,410..412,428..430,467..469,
473..478,485..490,494..502,506..511)
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(347..349,356..358,476..478,485..490,497..499)
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature 923..979
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/note="OAR domain; Region: OAR; pfam03826"
/db_xref="CDD:146451"
misc_feature 938..979
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75364.1);
Region: OAR"
misc_feature 956..970
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75364.1);
Region: Nuclear localization signal (Potential)"
exon 273..475
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/inference="alignment:Splign:1.39.8"
STS 399..694
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/standard_name="D1Bda64"
/db_xref="UniSTS:239817"
variation 439
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2281983"
exon 476..1388
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/inference="alignment:Splign:1.39.8"
STS 476..687
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/standard_name="Pitx3"
/db_xref="UniSTS:144187"
STS 477..687
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
/standard_name="Pitx3"
/db_xref="UniSTS:144186"
polyA_signal 1368..1373
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
polyA_site 1388
/gene="PITX3"
/gene_synonym="CTPP4; CTRCT11; PTX3"
ORIGIN
ggagcgcccgagcggagaggcggcccgggagcaggggggcggcccccactccggccgggtgcccggcccctggcccctgcctgccctctagatcgccgccgcagccgccgctactgggagtctgcctgttgcaggacgcactagccctccctccatggagttcggcctgctcagcgaggcagaggcccggagccctgccctgtcgctgtcagacgctggcactccgcacccccagctcccagagcacggctgcaagggccaggagcacagcgactcagaaaaggcctcggcttcgctgcccggcggctccccagaggacggttcgctgaaaaagaagcagcggcggcagcgcacgcacttcaccagccagcagctacaggagctagaggcgaccttccagaggaaccgctaccccgacatgagcacgcgcgaggagatcgccgtgtggaccaacctcaccgaggcccgcgtgcgggtgtggttcaagaaccggcgcgccaaatggcggaagcgcgagcgcagccagcaggccgagctatgcaaaggcagcttcgcggcgccgctcggggggctggtgccgccctacgaggaggtgtaccccggctactcgtacggcaactggccgcccaaggctcttgccccgccgctcgccgccaagacctttccattcgccttcaactcggtcaacgtggggcctctggcttcgcagcccgtcttctcgccacccagctccatcgccgcctccatggtgccctccgccgcggctgccccgggcaccgtgccagggcctggggccctgcagggcctgggcgggggcccccccgggctggctccggccgccgtgtcctccggggccgtgtcctgcccttatgcctcggccgccgccgccgccgcggctgccgcctcttccccctacgtctatcgggacccgtgtaactcgagcctggccagcctgcggctcaaagccaaacagcacgcctccttcagctaccccgctgtgcacgggccgcccccggcagccaaccttagtccgtgccagtacgccgtggaaaggcccgtatgagcggccccgcccgtagatcatccccgagggcgggggcaacgattcacagcctccgcggactggggtcattttgactggcttgctcccgccccagggtctgaaaggggtgtttgggcagctggggggcaccggctcaggagagggccttcccctcccagccctgaggggtggactaggccctacacacagaccgcgcccctgggactaaagccaggaacagggaccagctccccgggggccaactcacccttggcccatcccgccttctccaggcttcccctccctcgttttcaaagataaatgaaataaacgtgcgcggactgtcaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5309 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:5309 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:5309 -> Biological process: GO:0002088 [lens development in camera-type eye] evidence: ISS
GeneID:5309 -> Biological process: GO:0002089 [lens morphogenesis in camera-type eye] evidence: ISS
GeneID:5309 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:5309 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: ISS
GeneID:5309 -> Biological process: GO:0007626 [locomotory behavior] evidence: IEA
GeneID:5309 -> Biological process: GO:0009887 [organ morphogenesis] evidence: TAS
GeneID:5309 -> Biological process: GO:0030901 [midbrain development] evidence: ISS
GeneID:5309 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: ISS
GeneID:5309 -> Biological process: GO:0048666 [neuron development] evidence: IEA
GeneID:5309 -> Biological process: GO:0070306 [lens fiber cell differentiation] evidence: IEA
GeneID:5309 -> Biological process: GO:0071542 [dopaminergic neuron differentiation] evidence: ISS
GeneID:5309 -> Cellular component: GO:0005634 [nucleus] evidence: ISS
by
@meso_cacase at
DBCLS
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