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Paired-like homeodomain transcription factor 1

PDB rendering based on 1yz8.

Available structures: 1yz8

Identifiers

Symbols PITX1; PTX1; BFT; POTX

External IDs OMIM: 602149 MGI: 107374 HomoloGene: 20584

Gene ontology

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

Cellular component: • nucleus

Biological process: • skeletal development
• regulation of transcription, DNA-dependent
• multicellular organismal development
• anatomical structure morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human Mouse

Entrez 5307 18740

Ensembl ENSG00000069011 ENSMUSG00000021506

Uniprot P78337 Q3UQH0

Refseq NM_002653 (mRNA)
NP_002644 (protein) XM_984816 (mRNA)
XP_989910 (protein)

Location Chr 5: 134.39 - 134.4 Mb Chr 13: 55.83 - 55.84 Mb

Pubmed search [1] [2]

Paired-like homeodomain transcription factor 1, also known as PITX1, 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. According to an October 2008 press release by the Washington University School of Medicine, the gene is the first gene thought to be involved with clubfoot. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin ^[1] and it could be associated with autism^[2]

References

^ ^a ^b "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".
^ Philippi, Anne; Tores, Frédéric; Carayol, Jérome; Rousseau, Francis (2007), "[http://www.ncbi.nlm.nih.gov/pubmed/18053270 Association of autism with polymorphisms in the paired-like homeodomain t ranscription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.]", BMC Med. Genet. 8: 741471-2350-8-74, doi:10.1186/1471-2350-8-7418053270, PMID :18053270, http://www.ncbi.nlm.nih.gov/pubmed/18053270

Further reading

Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (1996). "P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development.". Proc. Natl. Acad. Sci. U.S.A. 93 (15): 7706–10. PMID 8755540.
Shang J, Li X, Ring HZ, et al. (1997). "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft).". Genomics 40 (1): 108–13. doi:10.1006/geno.1996.4558. PMID 9070926.
Shang J, Luo Y, Clayton DA (1997). "Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb.". Dev. Dyn. 209 (2): 242–53. doi:10.1002/(SICI)1097-0177(199706)209:2<242::AID-AJA10>3.0.CO;2-0. PMID 9186059.
Crawford MJ, Lanctôt C, Tremblay JJ, et al. (1998). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.". Mamm. Genome 8 (11): 841–5. PMID 9337397.
Poulin G, Turgeon B, Drouin J (1997). "NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene.". Mol. Cell. Biol. 17 (11): 6673–82. PMID 9343431.
Tremblay JJ, Drouin J (1999). "Egr-1 is a downstream effector of GnRH and synergizes by direct interaction with Ptx1 and SF-1 to enhance luteinizing hormone beta gene transcription.". Mol. Cell. Biol. 19 (4): 2567–76. PMID 10082522.
Tremblay JJ, Marcil A, Gauthier Y, Drouin J (1999). "Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain.". EMBO J. 18 (12): 3431–41. doi:10.1093/emboj/18.12.3431. PMID 10369682.
Pellegrini-Bouiller I, Manrique C, Gunz G, et al. (1999). "Expression of the members of the Ptx family of transcription factors in human pituitary adenomas.". J. Clin. Endocrinol. Metab. 84 (6): 2212–20. PMID 10372733.
Tahara S, Kurotani R, Sanno N, et al. (2001). "Expression of pituitary homeo box 1 (Ptx1) in human non-neoplastic pituitaries and pituitary adenomas.". Mod. Pathol. 13 (10): 1097–108. doi:10.1038/modpathol.3880204. PMID 11048804.
Quentien MH, Manfroid I, Moncet D, et al. (2003). "Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter.". J. Biol. Chem. 277 (46): 44408–16. doi:10.1074/jbc.M207824200. PMID 12223489.
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.
Ghosh AK, Majumder M, Steele R, et al. (2003). "Modulation of interferon expression by hepatitis C virus NS5A protein and human homeodomain protein PTX1.". Virology 306 (1): 51–9. PMID 12620797.
Hiroi N, Kino T, Bassett M, et al. (2004). "Pituitary homeobox factor 1, a novel transcription factor in the adrenal regulating steroid 11beta-hydroxylase.". Horm. Metab. Res. 35 (5): 273–8. doi:10.1055/s-2003-41301. PMID 12915995.
Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5.". Nature 431 (7006): 268–74. doi:10.1038/nature02919. PMID 15372022.
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.
Kolfschoten IG, van Leeuwen B, Berns K, et al. (2005). "A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity.". Cell 121 (6): 849–58. doi:10.1016/j.cell.2005.04.017. PMID 15960973.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Lord RV, Brabender J, Wickramasinghe K, et al. (2006). "Increased CDX2 and decreased PITX1 homeobox gene expression in Barrett's esophagus and Barrett's-associated adenocarcinoma.". Surgery 138 (5): 924–31. doi:10.1016/j.surg.2005.05.007. PMID 16291394.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
Picard C, Azeddine B, Moldovan F, et al. (2007). "New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis.". Clin. Orthop. Relat. Res. 462: 59–66. doi:10.1097/BLO.0b013e3180d09d9c. PMID 17549029.

External links

MeSH PITX1+protein,+human

This article on a gene on chromosome 5 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) • 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

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