AC T02266
XX
ID T02266
XX
DT 10.11.1997 (created); ili.
DT 26.03.2013 (updated); sup.
CO Copyright (C), QIAGEN.
XX
FA AML3-isoform2
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SY CBFA1; Osf2; osteoblast-specific transcription factor 2; PEBP2alphaA.
XX
OS mouse, Mus musculus
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; rodentia; myomorpha; muridae; murinae
XX
GE G005054 Runx2.
XX
CL C0029; runt.
XX
SZ 596 AA; 65.1 kDa (cDNA) (calc.).
XX
SQ MLHSPHKQPQNHKCGANFLQEDCKKALAFKWLISAGHYQPPRPTESFKAASSIYNRGHKF
SQ YLEKKGGTMASNSLFSAVTPCQQSFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQ
SQ QQQQQQQQQQQQQQQQQQQQQQQQQEAAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEI
SQ IADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYS
SQ AELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPR
SQ EPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQI
SQ TDPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTA
SQ TSDFCLWPSSLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVT
SQ SGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSASYQFPMVPGGDRS
SQ PSRMVPPCTTTSNGSTLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY
XX
SC translated from EMBL #AF010284 according to [3]
XX
FT 69 87 
activation domain 1 [4].
FT 83 315 
PF00478; IMP dehydrogenase / GMP reductase domain.
FT 117 164 
activation domain 2 [4].
FT 174 308 
PF00853; Runt domain.
FT 176 304 
PS51062; RUNT.
FT 302 310 
necessary for nuclear localization [4].
FT 308 442 
activation domain 3 [4].
FT 592 596 
VWRPY motif, interaction with TLE2 [4].
XX
SF splice variants are T01062 and T01063;
SF second Met is the better translational initiator in vitro [4];
XX
CP bone and osteoblasts [3].
EX skeleton of forelimb,,,Theiler Stage 26; detectable; RNA-in situ hybridization (non-radioactive); RNA (undefined); [5].
EX skeleton of hindlimb,,,Theiler Stage 26; detectable; RNA-in situ hybridization (non-radioactive); RNA (undefined); [5].
XX
FF does probably not heterodimerize with PEBP2beta (Cbf beta) [4];
FF expression occurs early during skeletal development and is restricted to cells of the mesenchymal condensations and the osteoblast lineage [3];
FF AML3-isoform2A (-/-) mice scarcely breathed, showed uniformly dwarfism, short legs and died soon after birth [2];
FF AML3-isoform2A-null mice exhibited an almost complete absence of mineralized bone tissue [1];
FF AML3-isoform2A seems to play an essential role in the differentiation of immature osteoblasts that have been directed toward the osteoblastic lineage [2];
FF heterozygote mice (+/-) show specific bone defects that recapitulate the phenotype of a human disease, cleidocranial dysplasia [1];
XX
IN T00111 c-Ets-1; mouse, Mus musculus.
IN T02524 Grg-1; human, Homo sapiens.
IN T01648 HES-1; rat, Rattus norvegicus.
IN T01064 PEBP2beta; mouse, Mus musculus.
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
BS R73866.
BS R42211.
BS R73963.
BS R18139.
BS R18140.
BS R18142.
BS R18143.
XX
DR TRANSPATH: MO000026272.
DR TRANSCOMPEL: C00003.
DR TRANSCOMPEL: C00196.
DR TRANSCOMPEL: C00231.
DR TRANSCOMPEL: C00232.
DR TRANSCOMPEL: C00397.
DR EMBL: AF010284;
DR UniProtKB: Q08775-2; RUNX2_MOUSE.
XX
RN [1]; RE0005890.
RX PUBMED: 9182764.
RA Otto F., Thornell A. P., Crompton T., Denzel A., Gilmour K. C., Rosewell I. R., Stamp G. W. H., Beddington R. S. P., Mundlos S., Olsen B. R., Selby P. B., Owen M. J.
RT Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
RL Cell 89:765-771 (1997).
RN [2]; RE0005891.
RX PUBMED: 9182763.
RA Komori T., Yagi H., Nomura S., Yamaguchi A., Sasaki K., Deguchi K., Shimizu Y., Bronson R. T., Gao Y.-H., Inada M., Sato M., Okamoto R., Kitamura Y., Yoshiki S., Kishimoto T.
RT Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
RL Cell 89:755-764 (1997).
RN [3]; RE0005892.
RX PUBMED: 9182762.
RA Ducy P., Zhang R., Geoffroy V., Ridall A. L., Karsenty G.
RT Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation
RL Cell 89:747-754 (1997).
RN [4]; RE0007013.
RX PUBMED: 9632804.
RA Thirunavukkarasu K., Mahajan M., McLarren K. W., Stifani S., Karsenty G.
RT Two domains unique to osteobalst-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbf beta
RL Mol. Cell. Biol. 18:4197-4208 (1998).
RN [5]; RE0035530.
RX PUBMED: 9794229.
RA Sato M., Morii E., Komori T., Kawahata H., Sugimoto M., Terai K., Shimizu H., Yasui T., Ogihara H., Yasui N., Ochi T., Kitamura Y., Ito Y., Nomura S.
RT Transcriptional regulation of osteopontin gene in vivo by PEBP2alphaA/CBFA1 and ETS1 in the skeletal tissues.
RL Oncogene 17:1517-1525 (1998).
XX
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