AC T09159
AS T06314.
XX
ID T09159
XX
DT 31.07.2006 (created); kar.
DT 01.04.2015 (updated); sup.
CO Copyright (C), QIAGEN.
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FA pitx2a
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SY ARP1A; Otlx2; Pitx2; Ptx-2; Ptx2; PTX2A; RGS; RIEG.
XX
OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G002665 PITX2; HGNC: Pitx2.
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CL C0006; homeo; 3.1.3.19.2.1.
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SZ 271 AA; 30.4 kDa (cDNA) (calc.).
XX
SQ METNCRKLVSACLQLEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQQLEATFQR
SQ NRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQP
SQ YDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSM
SQ VPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRL
SQ KAKQHSSFGYASVQKPASNLSACQYAVDRPV
XX
SC translated from EMBL #U69961
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FT 1 38 transactivation domain [3].
FT 37 97 PS50071; HOMEOBOX_2.
FT 39 95 PS50552; PAX.
FT 39 101 SM00389; HOX_1.
FT 40 96 PF00046; Homeobox domain.
FT 99 271 transactivation domain [3].
FT 228 248 PF03826; OAR domain.
FT 233 271 binding activity repression domain [3].
FT 233 271 POU1F1a T00691 interaction domain [3].
FT 233 246 PS50803; OAR.
XX
SF isoform of PITX2 T02413;
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IN T09508 Mef-2a; human, Homo sapiens.
XX
MX M01447 V$PITX2_01.
MX M00482 V$PITX2_Q2.
MX M07056 V$PITX2_Q4.
MX M02114 V$PITX2_Q6.
MX M08895 V$PITX_Q4.
XX
BS R10033.
BS R15870.
BS R11012.
BS R11013.
BS R11014.
BS R15865.
BS R15866.
BS R27145.
BS R27146.
BS R66981.
BS R11008.
BS R11009.
BS R11010.
BS R11011.
BS R15861.
BS R04992.
XX
DR TRANSPATH: MO000083932.
DR EMBL: U69961;
DR UniProtKB: Q99697-3;
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RN [1]; RE0006808.
RX PUBMED: 8944018.
RA Semina E. V., Reiter R., Leysens N. J., Alward W. L. M., Small K. W., Datson N. A., Siegle-Bartelt J., Bierke-Nelson D., Bitoun P., Zabel B. U., Carey J. C., Murray J. C.
RT Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
RL Nat. Genet. 14:392-399 (1996).
RN [2]; RE0016332.
RX PUBMED: 9685346.
RA Amendt B. A., Sutherland L. B., Semina E. V., Russo A. F.
RT The molecular basis of Rieger Syndrome
RL J. Biol. Chem. 273:20066-20072 (1998).
RN [3]; RE0016846.
RX PUBMED: 10490637.
RA Amendt B. A., Sutherland L. B., Russo A. F.
RT Multifunctional role of the Pitx2 homeodomain protein C-terminal tail.
RL Mol. Cell. Biol. 19:7001-7010 (1999).
RN [4]; RE0016847.
RX PUBMED: 11157981.
RA Hjalt T. A., Amendt B. A., Murray J. C.
RT PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome
RL J. Cell Biol. 152:545-552 (2001).
RN [5]; RE0025062.
RX PUBMED: 12692125.
RA Ganga M., Espinoza H. M., Cox C. J., Morton L., Hjalt T. A., Lee Y., Amendt B. A.
RT PITX2 isoform-specific regulation of atrial natriuretic factor expression: synergism and repression with Nkx2.5.
RL J. Biol. Chem. 278:22437-22445 (2003).
RN [6]; RE0048085.
RX PUBMED: 15466416.
RA Toro R., Saadi I., Kuburas A., Nemer M., Russo A. F.
RT Cell-specific activation of the atrial natriuretic factor promoter by PITX2 and MEF2A.
RL J. Biol. Chem. 279:52087-52094 (2004).
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