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

Name: Mouse Anti-DEAF1 Recombinant Antibody (A2175)
SKU: CBMAB-A2175-LY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

A2175

Application

WB, IP, IF, ELISA

Immunogen

Amino acids 220-519 mapping within an internal region of human Suppressin.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgG1, κ

Clonality

Monoclonal Antibody

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Application	Note
ELISA	1:10,000
WB	1:100-1:1,000
IP	1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
IF(ICC)	1:50-1:500

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

Format

Liquid

Buffer

Gelatin & PBS

Preservative

Sodium Azide

Concentration

0.2 mg/ml

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.

More Infomation

Target

Full Name

DEAF1

Entrez Gene ID

10522

UniProt ID

O75398

Alternative Names

NUDR; SPN; ZMYND5

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).

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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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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Isotype control

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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