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Paired-like homeodomain transcription factor 3

PDB rendering based on 1yz8.

Available structures: 1yz8

Identifiers

Symbols PITX3; MGC12766; PTX3

External IDs OMIM: 602669 MGI: 1100498 HomoloGene: 3689

Gene ontology

Molecular function: • transcription factor activity
• sequence-specific DNA binding

Cellular component: • nucleus

Biological process: • regulation of transcription, DNA-dependent
• multicellular organismal development
• organ morphogenesis
• midbrain development
• neuron development

RNA expression pattern

More reference expression data

Orthologs

Human Mouse

Entrez 5309 18742

Ensembl ENSG00000107859 ENSMUSG00000025229

Uniprot O75364 Q0VB03

Refseq NM_005029 (mRNA)
NP_005020 (protein) NM_008852 (mRNA)
NP_032878 (protein)

Location Chr 10: 103.98 - 103.99 Mb Chr 19: 46.19 - 46.2 Mb

Pubmed search [1] [2]

Paired-like homeodomain transcription factor 3, also known as PITX3, is a human gene.^[1]

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. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts. This protein is involved in lens formation during eye development.^[1]

References

^ ^a ^b "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3".

Further reading

Smits SM, Smidt MP (2006). "The role of Pitx3 in survival of midbrain dopaminergic neurons.". J. Neural Transm. Suppl. (70): 57–60. PMID 17017509.
Hittner HM, Kretzer FL, Antoszyk JH, et al. (1982). "Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations.". Am. J. Ophthalmol. 93 (1): 57–70. PMID 6801987.
Semina EV, Ferrell RE, Mintz-Hittner HA, et al. (1998). "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.". Nat. Genet. 19 (2): 167–70. doi:10.1038/527. PMID 9620774.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Berry V, Yang Z, Addison PK, et al. (2004). "Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).". J. Med. Genet. 41 (8): e109. doi:10.1136/jmg.2004.020289. PMID 15286169.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Finzi S, Li Y, Mitchell TN, et al. (2005). "Posterior polar cataract: genetic analysis of a large family.". Ophthalmic Genet. 26 (3): 125–30. doi:10.1080/13816810500229124. PMID 16272057.
Martinat C, Bacci JJ, Leete T, et al. (2006). "Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype.". Proc. Natl. Acad. Sci. U.S.A. 103 (8): 2874–9. doi:10.1073/pnas.0511153103. PMID 16477036.
Bidinost C, Matsumoto M, Chung D, et al. (2006). "Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.". Invest. Ophthalmol. Vis. Sci. 47 (4): 1274–80. doi:10.1167/iovs.05-1095. PMID 16565358.
Burdon KP, McKay JD, Wirth MG, et al. (2006). "The PITX3 gene in posterior polar congenital cataract in Australia.". Mol. Vis. 12: 367–71. PMID 16636655.
Sakazume S, Sorokina E, Iwamoto Y, Semina EV (2007). "Functional analysis of human mutations in homeodomain transcription factor PITX3.". BMC Mol. Biol. 8: 84. doi:10.1186/1471-2199-8-84. PMID 17888164.

External links

MeSH PITX3+protein,+human

This article on a gene on chromosome 10 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Pho4 • Scleraxis • TAL1 • Twist • USF1

(1.3) bHLH-ZIP	AP-4 • MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)

(1.4) NF-1	NFI (A, B, C, X) • SMAD (R-SMAD (1, 2, 3, 5, 9) - I-SMAD (6, 7) - 4)

(1.5) RF-X	RFX (1, 2, 3, 4, 5, ANK)

(1.6) Basic helix-span-helix (bHSH)	AP-2 (α, β, γ, δ, ε)

(2) Zinc finger DNA-binding domains

(2.1) Nuclear receptor (Cys₄)	subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) subfamily 3 (Steroid hormone (Androgen, Estrogen (α, β), Glucocorticoid, Mineralocorticoid, Progesterone), Estrogen related (α, β, γ)) subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)

(2.2) Other Cys₄	GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3) • TRPS1

(2.3) Cys₂His₂	General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF (1, 2), TFIIH (1, 2, 4, 2I, 3A, 3C1, 3C2)) ATBF1 • BCL (6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • GFI1 • GLI-Krüppel family (1, 2, 3, S2, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 17 ) • MTF1 • MYT1 • OSR1 • SP (1, 2, 4, 7) • Zbtb7 (7A, 7B) • ZBTB (16, 17, 20, 32, 33, 40) • zinc finger (3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 423, 451, 452, 471, 593, 638, 649, 655)

(2.4) Cys₆	HIVEP1

(2.5) Alternating composition	AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B

(3) Helix-turn-helix domains

(3.1) Homeo domain	ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-2, 2-3, 2-5, 3-1, 3-2) • PBX (1, 2, 3) • PHF (1, 3, 6, 8, 10, 16, 17, 20, 21A) • PITX (1, 2, 3) • POU domain (PIT-1, BRN-3: A, B, C, Octamer transcription factor: 1, 2, 3/4, 6, 7, 11) • OTX (1, 2) • PDX1

(3.2) Paired box	PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)

(3.3) Fork head / winged helix	E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, O3A, O4, P1, P2, P3)

(3.4) Heat Shock Factors	HSF (1, 2, 4)

(3.5) Tryptophan clusters	ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2, SPIB) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2

(3.6) TEA domain	transcriptional enhancer factor (1, 2, 3, 4)

(4) β-Scaffold factors with minor groove contacts

(4.1) Rel homology region	NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)

(4.2) STAT	STAT (1, 2, 3, 4, 5, 6)

(4.3) p53	p53 • TBX (1, 2, 3, 5, 19, 21, 22)

(4.4) MADS box	Mef2 (A, B, C, D) • SRF

(4.6) TATA binding proteins	TBP • TBPL1

(4.7) High mobility group	HMGB (1, 2, 3) • HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) • SRY • SSRP1 • TCF (3, 4) • TOX (1, 2, 3, 4)

(4.10) Cold-shock domain	CSDA, YBX1

(4.11) Runt	CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)

(0) Other transcription factors

(0.2) HMGI(Y)	HMGA (1, 2) • HBP1

(0.3) Pocket domain	Rb • RBL1 • RBL2

(0.5) AP-2/EREBP-related factors	Apetala 2 • EREBP • B3

(0.6) Miscellaneous	ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFY (A, B, C) • Rho/Sigma

Retrieved from "http://en.wikipedia.org/wiki/PITX3"

Categories: Genes on chromosome 10 | Human proteins | Chromosome 10 gene stubs | Transcription factors

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