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Mouse Anti-DEAF1 Recombinant Antibody (3F11) (CBMAB-A2175-LY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
3F11
Antibody Isotype
IgG2b, κ
Application
WB, ELISA

Basic Information

Immunogen
DEAF1 (NP_066288.2, 133 a.a. ~ 222 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG2b, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
DEAF1
Entrez Gene ID
10522
UniProt ID
O75398
Alternative Names
NUDR; SPN; ZMYND5
Function
Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.
Biological Process
Anatomical structure morphogenesis Source: ProtInc
Embryonic skeletal system development Source: UniProtKB
Germ cell development Source: ProtInc
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: NTNU_SB
Neural tube closure Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Regulation of mammary gland epithelial cell proliferation Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Transcription by RNA polymerase II Source: ProtInc
Cellular Location
Isoform 1: Nucleus; Cytoplasm. Cytoplasmic in non-mucinous colorectal carcinoma. When expressed alone, localized almost exclusively in the nucleus but, when expressed with isoform 4, nuclear expression decreases to 32% and cytoplasmic expression increases by 270%.
Isoform 2&3: Secreted. Secreted in some cell types.
Isoform 4: Nucleus; Cytoplasm. When expressed alone, localizes mainly in the cytoplasm but, when expressed with isoform 1, nuclear localization is enhanced.
Involvement in disease
Vulto-van Silfout-de Vries syndrome (VSVS):
An autosomal dominant disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Most patients have additional non-specific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances.
Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (NEDHELS):
An autosomal recessive disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities.
PTM
May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro).
More Infomation

Chen, S., Deng, X., Xiong, J., He, F., Yang, L., Chen, B., ... & Yin, F. (2021). De novo variants of DEAF1 cause intellectual disability in six Chinese patients. Clinica Chimica Acta, 518, 17-21.

McGee, S. R., Rose, G. M., & Jensik, P. J. (2020). Impaired memory and marble burying activity in deformed epidermal autoregulatory factor 1 (Deaf1) conditional knockout mice. Behavioural Brain Research, 380, 112383.

Aronsen, D. R. (2020). ChIP-seq analysis of AIRE, FEZF2 and DEAF1 transcription factors in human thymus tissue (Master's thesis, Norwegian University of Life Sciences, Ås).

Andoni, T., Ellard, S., Kapadia, J., & Wakeling, E. (2020). A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype. Clinical Dysmorphology, 29(2), 114-117.

Aldea, D., Kokalari, B., Luckhart, C., Aharoni, A., Albert, P. R., & Kamberov, Y. G. (2019). The transcription factor Deaf1 modulates engrailed-1 expression to regulate skin appendage fate. Journal of Investigative Dermatology, 139(11), 2378-2381.

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., ... & Vulto-vanSilfhout, A. T. (2019). De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genetics in Medicine, 21(9), 2059-2069.

Chen, L., Jensik, P. J., Alaimo, J. T., Walkiewicz, M., Berger, S., Roeder, E., ... & Elsea, S. H. (2017). Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype. Human mutation, 38(12), 1774-1785.

Pérez-Zamorano, B., Rosas-Madrigal, S., Lozano, O. A. M., Castillo Méndez, M., & Valverde-Garduño, V. (2017). Identification of cis-regulatory sequences reveals potential participation of lola and Deaf1 transcription factors in Anopheles gambiae innate immune response. PloS one, 12(10), e0186435.

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For research use only. Not intended for any clinical use.

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