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Rabbit Anti-KMT1D  antibody (bs-16789R)  
~~~促銷代碼KT202411~~~
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產品編號 bs-16789R
英文名稱 Rabbit Anti-KMT1D  antibody
中文名稱 賴氨酸N甲基轉移酶1D/EHMT1抗體
別    名 bA188C12.1; DKFZp667M072; EHMT 1; EHMT1; EHMT1_HUMAN; Eu-HMTase1; Eu HMTase1; Euchromatic histone lysine N methyltransferase 1; Euchromatic histone methyltransferase 1; Euchromatic histone-lysine N-methyltransferase 1; EUHMTASE1; FLJ12879; FP13812; G9a like protein 1; G9a like protein; G9a-like protein 1; GLP 1; GLP; GLP1; H3 K9 HMTase 5; H3-K9-HMTase 5; Histone H3 K9 methyltransferase 5; Histone H3-K9 methyltransferase 5; Histone lysine N methyltransferase H3 lysine 9 specific 5; Histone-lysine N-methyltransferase EHMT1; KIAA1876; Lysine N methyltransferase 1D; Lysine N-methyltransferase 1D; RP11 188C12.1.  
研究領域 細胞生物  細胞周期蛋白  膠原蛋白  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human,Mouse,Rat,Rabbit,Cow)
產品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 141kDa
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human KMT1D: 251-350/1298 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Function:
Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53.

Subcellular Location:
Nucleus. Chromosome. Associates with euchromatic regions.

Tissue Specificity:
Widely expressed.

Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.

DISEASE:
Defects in EHMT1 are the cause of chromosome 9q subtelomeric deletion syndrome (9q- syndrome) [MIM:610253]. Common features seen in these patients are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, cupid bow or tented upper lip, everted lower lip, prognathism, macroglossia, conotruncal heart defects, and behavioral problems.

Similarity:
Belongs to the histone-lysine methyltransferase family.
Contains 8 ANK repeats.
Contains 1 pre-SET domain.
Contains 1 SET domain.

SWISS:
Q9H9B1

Gene ID:
79813

Database links:

Entrez Gene: 79813 Human

Entrez Gene: 77683 Mouse

Omim: 607001 Human

SwissProt: Q9H9B1 Human

SwissProt: Q5DW34 Mouse

Unigene: 495511 Human

Unigene: 24176 Mouse



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