Product Overview
Description
CLPP-00150547 is recombinant human DEAF1 protein
Applications
Functional Studies, SDS-PAGE
Protein Length
Full length protein
Nature
Recombinant Protein
Sequence
MASMTGGQQMGRGHHHHHHENLYFQGEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV
Sequence Similarities
Contains 1 MYND-type zinc finger. Contains 1 SAND domain.
Predicted Molecular Weight
62 kDa including tags
Target Information
Alternative Names
Deaf1; DEAF1 transcription factor; DEAF1_HUMAN; Deformed epidermal autoregulatory factor 1 homolog; Nuclear DEA1 related transcriptional regulator; Nuclear DEAF-1-related transcriptional regulator; NUDR; SPN; Suppressin; Zinc finger MYND domain containing protein 5; Zinc finger MYND domain-containing protein 5; ZMYND5
Protein Function
Transcription factor that binds to sequence with multiple copies of 5'-TTCG-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.
Tissue Specificity
Expressed in various tissues and cells such as in peripheral mononuclear cells and hormone-secreting pituitary cells. Expression in pancreatic lymph nodes of patients with type 1 diabetes is 20 times higher than in healthy controls.
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. The disease is caused by variants affecting the gene represented in this entry. 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. The disease is caused by variants affecting the gene represented in this entry.
Shipping & Handling
Constituents
0.32% Tris HClContains NaCl, KCl, EDTA, arginine, DTT and glycerol.
Shipping
Shipped at 4 °C.
