AC T03984
XX
ID T03984
XX
DT 27.10.2000 (created); mpr.
DT 31.10.2006 (updated); apk.
CO Copyright (C), QIAGEN.
XX
FA AML3-isoform1
XX
SY CBF-alpha 1; CBF1; Cbfa1a; Osf2; PEBP2alpha1; PEBP2alphaA; RUNX2.
XX
OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
XX
GE G005051 RUNX2; HGNC: RUNX2.
XX
CL C0029; runt; 6.4.1.0.1.1.
XX
SZ 521 AA; 56.6 kDa (cDNA) (calc.).
XX
SQ MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQ
SQ QQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPN
SQ FLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVA
SQ RFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPS
SQ LFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD
SQ QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKS
SQ QAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT
SQ YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGS
SQ TLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY
XX
SC Swiss-Prot#Q13950-1
XX
FT 14 240 
PF00478; IMP dehydrogenase / GMP reductase domain.
FT 99 233 
PF00853; Runt domain.
FT 101 229 
PS51062; RUNT.
FT 396 422 
putative nuclear matrix targeting signal [2].
XX
SF factor was found to be associated with the nuclear matrix [2];
XX
FF related to human cleidocranial dysplasia (CCD) [3] [1];
FF mapped to chromosome region 6p21 [1];
FF essential for skeletal morphogenesis [1];
XX
IN T08522 HDAC4-isoform1; human, Homo sapiens.
XX
MX M07276 V$AML3_Q3.
MX M08866 V$AML_Q4.
MX M00769 V$AML_Q6.
MX M00731 V$OSF2_Q6.
MX M00984 V$PEBP_Q6.
XX
DR TRANSPATH: MO000027894.
DR PATHODB: MT010567.
DR PATHODB: MT010569.
DR PATHODB: MT010570.
DR PATHODB: MT010571.
DR PATHODB: MT010572.
DR PATHODB: MT010575.
DR PATHODB: MT010576.
DR PATHODB: MT010581.
DR PATHODB: MT010582.
DR PATHODB: MT010583.
DR PATHODB: MT010584.
DR PATHODB: MT010585.
DR PATHODB: MT010586.
DR PATHODB: MT010587.
DR PATHODB: MT010588.
DR PATHODB: MT010589.
DR PATHODB: MT010590.
DR PATHODB: MT010593.
DR PATHODB: MT010594.
DR PATHODB: MT010595.
DR PATHODB: MT010597.
DR PATHODB: MT010598.
DR PATHODB: MT010599.
DR PATHODB: MT010600.
DR PATHODB: MT010601.
DR PATHODB: MT010602.
DR PATHODB: MT010610.
DR PATHODB: MT010611.
DR PATHODB: MT010640.
DR PATHODB: MT010641.
DR PATHODB: MT010642.
DR PATHODB: MT010643.
DR PATHODB: MT010644.
DR PATHODB: MT010645.
DR PATHODB: MT010646.
DR PATHODB: MT010648.
DR PATHODB: MT010649.
DR PATHODB: MT010650.
DR PATHODB: MT010656.
DR PATHODB: MT010657.
DR PATHODB: MT010659.
DR PATHODB: MT010661.
DR PATHODB: MT010662.
DR PATHODB: MT010663.
DR EMBL: AF001450; RUNX2_HUMAN.
DR UniProtKB: Q13950-1; RUN2_HUMAN.
XX
RN [1]; RE0005889.
RX PUBMED: 9182765.
RA Mundlos S., Otto F., Mundlos C., Mulliken J. B., Aylsworth A. S., Albright S., Lindhout D., Cole W. G., Henn W., Knoll J. H. M., Owen M. J., Mertelsmann R., Zabel B. U., Olsen B. R.
RT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
RL Cell 89:773-779 (1997).
RN [2]; RE0006488.
RX PUBMED: 9192636.
RA Zeng C., van Wijnen A. J., Stein J. L., Meyers S., Sun W., Shopland L., Lawrence J. B., Penman S., Lian J.B., Stein G. S., Hiebert S. W.
RT Identification of a nuclear matrix targeting signal in leukemia and bone-related AML/CBF-alpha transcription factors
RL Proc. Natl. Acad. Sci. USA 94:6746-6751 (1997).
RN [3]; RE0015248.
RX PUBMED: 9207800.
RA Lee B., Thirunavukkarasu K., Zhou L., Pastore L., Baldini A., Hecht J., Geoffroy V., Ducy P., Karsenty G.
RT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
RL Nat. Genet. 16:307-310 (1997).
RN [4]; RE0048077.
RX PUBMED: 15537544.
RA Vega R. B., Matsuda K., Oh J., Barbosa A. C., Yang X., Meadows E., McAnally J., Pomajzl C., Shelton J. M., Richardson J. A., Karsenty G., Olson E. N.
RT Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis.
RL Cell 119:555-566 (2004).
XX
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