Epigenetics & Nuclear Signaling Antibodies 3
Anti-KAT6B Antibody (CAB17116)
- SKU:
- CAB17116
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Epigenetics and Nuclear Signaling
Description
Antibody Name: | Anti-KAT6B Antibody |
Antibody SKU: | CAB17116 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 400-500 of human KAT6B (NP_001243398.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: |
Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 400-500 of human KAT6B (NP_001243398.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | DLDV FKQA QELS WEKI ECES GVED CGRY PSVI EFGK YEIQ TWYS SPYP QEYA RLPK LYLC EFCL KYMK SKNI LLRH SKKC GWFH PPAN EIYR RKDL SVFE V |
Gene ID: | 23522 |
Uniprot: | Q8WYB5 |
Cellular Location: | |
Calculated MW: | |
Observed MW: | Refer to figures |
Synonyms: | KAT6B, GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf |
Background: | The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. |
UniProt Protein Function: | MYST4: Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP. Defects in KAT6B are a cause of Ohdo syndrome, SBBYS variant (SBBYSS). SBBYSS is a syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech. Defects in KAT6B are a cause of genitopatellar syndrome (GTPTS). GTPTS is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Belongs to the MYST (SAS/MOZ) family. 3 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:EC 2.3.1.48; Acetyltransferase Chromosomal Location of Human Ortholog: 10q22.2 Cellular Component: nucleoplasm; nucleosome; nucleus Molecular Function:protein binding; histone acetyltransferase activity; DNA binding; zinc ion binding; acetyltransferase activity; transcription factor binding Biological Process: nucleosome assembly; establishment and/or maintenance of chromatin architecture; regulation of transcription, DNA-dependent; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; histone acetylation; negative regulation of transcription, DNA-dependent Disease: Genitopatellar Syndrome; Ohdo Syndrome, Sbbys Variant |
NCBI Summary: | The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] |
UniProt Code: | Q8WYB5 |
NCBI GenInfo Identifier: | 374349205 |
NCBI Gene ID: | 23522 |
NCBI Accession: | NP_001243397.1 |
UniProt Secondary Accession: | Q8WYB5,O15087, Q86Y05, Q8WU81, Q9UKW2, Q9UKW3, Q9UKX0 |
UniProt Related Accession: | Q8WYB5 |
Molecular Weight: | |
NCBI Full Name: | histone acetyltransferase KAT6B isoform 2 |
NCBI Synonym Full Names: | K(lysine) acetyltransferase 6B |
NCBI Official Symbol: | KAT6B |
NCBI Official Synonym Symbols: | qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf |
NCBI Protein Information: | histone acetyltransferase KAT6B; MYST-4; MOZ-related factor; histone acetyltransferase MORF; histone acetyltransferase MOZ2; histone acetyltransferase MYST4; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; MYST histone acetyltransferase (monocytic leukemia) 4; monocytic leukemia zinc finger protein-related factor |
UniProt Protein Name: | Histone acetyltransferase KAT6B |
UniProt Synonym Protein Names: | Histone acetyltransferase MOZ2; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; MYST-4; Monocytic leukemia zinc finger protein-related factor |
Protein Family: | Histone acetyltransferase |
UniProt Gene Name: | KAT6B |
UniProt Entry Name: | KAT6B_HUMAN |
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