DEAF1 ELISA Kit for Human(Homo sapiens) | EIAab.comDEAF1 ELISA Kit for Human(Homo sapiens) | EIAab.com

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DEAF1 (Gene name),

Deformed epidermal autoregulatory factor 1 homolog (Protein name ), DEAF1_HUMAN from NCBI database.

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General Annotation

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Antigen Annotation

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3D

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Predicted Eptitope

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Vaild Sequence

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Related Databases

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Gene name:

DEAF1(SPN;ZMYND5);

Protein name:

Deformed epidermal autoregulatory factor 1 homolog;

Alternative:

Suppressin;Nuclear DEAF-1-related transcriptional regulator(NUDR);Zinc finger MYND domain-containing protein 5;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer (Probable). Isoform 1 and isoform 4 may form a heterodimer. Binds to LMO4 (via its C-terminus), LMO2 and CLIM2 (By similarity). May interact with the corepressor NCOR.

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.

Subcellular Location:

Isoform 4 Cytoplasm Nucleus When expressed alone, localizes mainly in the cytoplasm but, when expressed with isoform 1, nuclear localization is enhanced.

Protein Attributes:

Sequence length:

565

Sequence:

50:

MEDSDSAAKQ | LGLAEAAAVA | AAAAVAAAAA | AAAGGEAEEP | VLSRDEDSEE |

100:

DADSEAERET | PRVTAVAVMA | AEPGHMDMGA | EALPGPDEAA | AAAAFAEVTT |

150:

VTVANVGAAA | DNVFTTSVAN | AASISGHVLS | GRTALQIGDS | LNTEKATLIV |

200:

VHTDGSIVET | TGLKGPAAPL | TPGPQSPPTP | LAPGQEKGGT | KYNWDPSVYD |

250:

SELPVRCRNI | SGTLYKNRLG | SGGRGRCIKQ | GENWYSPTEF | EAMAGRASSK |

300:

DWKRSIRYAG | RPLQCLIQDG | ILNPHAASCT | CAACCDDMTL | SGPVRLFVPY |

350:

KRRKKENELP | TTPVKKDSPK | NITLLPATAA | TTFTVTPSGQ | ITTSGALTFD |

400:

RASTVEATAV | ISESPAQGDV | FAGATVQEAS | VQPPCRASHP | EPHYPGYQDS |

450:

CQIAPFPEAA | LPTSHPKIVL | TSLPALAVPP | PTPTKAAPPA | LVNGLELSEP |

500:

RSWLYLEEMV | NSLLNTAQQL | KTLFEQAKHA | STYREAATNQ | AKIHADAERK |

550:

EQSCVNCGRE | AMSECTGCHK | VNYCSTFCQR | KDWKDHQHIC | GQSAAVTVQA |

565:

DEVHVAESVM | EKVTV

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

KEGG:

UniGene:

MIM:

Pfam:

String:

SMR:

Uniprot:

FOR

ELISA Kit for Human Deformed epidermal autoregulatory factor 1 homolog

ELISA Kit for Human Deformed epidermal autoregulatory factor 1 homolog

ELISA Kit for Human Deformed epidermal autoregulatory factor 1 homolog

CLIA Kit for Human Deformed epidermal autoregulatory factor 1 homolog

CLIA Kit for Human Deformed epidermal autoregulatory factor 1 homolog

CLIA Kit for Human Deformed epidermal autoregulatory factor 1 homolog

Polyclonal Antibody for Human Deformed epidermal autoregulatory factor 1 homolog

Polyclonal Antibody for Human Deformed epidermal autoregulatory factor 1 homolog

Polyclonal Antibody for Human Deformed epidermal autoregulatory factor 1 homolog

Monoclonal Antibody for Human Deformed epidermal autoregulatory factor 1 homolog

Monoclonal Antibody for Human Deformed epidermal autoregulatory factor 1 homolog

Monoclonal Antibody for Human Deformed epidermal autoregulatory factor 1 homolog

Protein for Human Deformed epidermal autoregulatory factor 1 homolog

Protein for Human Deformed epidermal autoregulatory factor 1 homolog

Protein for Human Deformed epidermal autoregulatory factor 1 homolog

R&D Technical Data

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Precision

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Recovery

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Linearity

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References

1.

"Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein."
Huggenvik J.I. , Michelson R.J. , Collard M.W. , Ziemba A.J. , Gurley P. , Mowen K.A.
Mol. Endocrinol.12:1619-1639(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2);MUTAGENESIS OF ARG-302 AND LYS-304
tissue: Choriocarcinoma.
2.

"Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas."
Manne U. , Gary B.D. , Oelschlager D.K. , Weiss H.L. , Frost A.R. , Grizzle W.E.
Clin. Cancer Res.7:3495-3503(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3);VARIANTS VAL-186; ASN-191; ILE-191; 199-CYS-ASP-ASN-ASP-202; ASP-202; LYS-218; 350-GLY-GLN-THR-352; HIS-356; ASN-364; HIS-367; LEU-370; PHE-397; ALA-442; LYS-449; 451-GLY-ILE-452; HIS-468; LEU-479; LYS-498; ASN-526; LEU-530; 537-HIS-LEU-538; HIS-542; GLY-545 AND VAL-545;ROLE IN NEOPLASIA
tissue: Colon.
tissue: Colon adenocarcinoma.
3.

"Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes."
Yip L. , Su L. , Sheng D. , Chang P. , Atkinson M. , Czesak M. , Albert P.R. , Collier A.R. , Turley S.J. , Fathman C.G. , Creusot R.J.
Nat. Immunol.10:1026-1033(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4);FUNCTION;SUBCELLULAR LOCATION;TISSUE SPECIFICITY
tissue: Pancreas.
4.

"Cloning and sequence analysis of the cDNA for human suppressin (spn)."
LeBoeuf R.D. , Blalock J.E. , Tauber J.D.
Submitted (1997-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3)
tissue: Mammary gland.
5.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3)
tissue: Brain.
tissue: Caudate nucleus.
6.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Ovary.
7.

"Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter."
Michelson R.J. , Collard M.W. , Ziemba A.J. , Persinger J. , Bartholomew B. , Huggenvik J.I.
J. Biol. Chem.274:30510-30519(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
8.

"The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation."
Bottomley M.J. , Collard M.W. , Huggenvik J.I. , Liu Z. , Gibson T.J. , Sattler M.
Nat. Struct. Biol.8:626-633(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION OF SAND DOMAIN;MUTAGENESIS OF TYR-215; ARG-226; ARG-246; LYS-250; TRP-252 AND LYS-253
9.

"Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland."
Barker H.E. , Smyth G.K. , Wettenhall J. , Ward T.A. , Bath M.L. , Lindeman G.J. , Visvader J.E.
BMC Dev. Biol.8:94-94(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
10.

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
Anal. Chem.81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
11.

"Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex."
Jensik P.J. , Huggenvik J.I. , Collard M.W.
PLoS ONE7:E33404-E33404(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DNA-BINDING;IDENTIFICATION IN A COMPLEX WITH XRCC5 AND XRCC6;SUBCELLULAR LOCATION;PHOSPHORYLATION BY DNA-PK COMPLEX
12.

"Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems."
Vulto-van Silfhout A.T. , Rajamanickam S. , Jensik P.J. , Vergult S. , de Rocker N. , Newhall K.J. , Raghavan R. , Reardon S.N. , Jarrett K. , McIntyre T. , Bulinski J. , Ownby S.L. , Huggenvik J.I. , McKnight G.S. , Rose G.M. , Cai X. , Willaert A. , Zweier C. , more...
Am. J. Hum. Genet.94:649-661(2014) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;INTERACTION WITH XRCC6;DNA-BINDING;TISSUE SPECIFICITY;INVOLVEMENT IN MRD24;VARIANTS MRD24 TRP-224; SER-228; SER-254 AND PRO-264;CHARACTERIZATION OF VARIANTS MRD24 TRP-224; SER-228; SER-254 AND PRO-264;MUTAGENESIS OF LYS-250 AND LYS-253
13.

"Structure and functional analysis of the MYND domain."
Spadaccini R. , Perrin H. , Bottomley M.J. , Ansieau S. , Sattler M.
J. Mol. Biol.358:498-508(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 496-544 IN COMPLEX WITH ZINC IONS
14.

"Retraction notice to 'Structure and functional analysis of the MYND domain' [J. Mol. Biol. (2006) 358, 498-508]."
Spadaccini R. , Perrin H. , Bottomley M.J. , Ansieau S. , Sattler M.
J. Mol. Biol.376:1523-1523(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: RETRACTION: STRUCTURE BY NMR OF 496-544 IN COMPLEX WITH ZINC IONS
15.

"Structural and functional analysis of the DEAF-1 and BS69 MYND domains."
Kateb F. , Perrin H. , Tripsianes K. , Zou P. , Spadaccini R. , Bottomley M. , Franzmann T.M. , Buchner J. , Ansieau S. , Sattler M.
PLoS ONE8:E54715-E54715(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 501-544 IN COMPLEX WITH ZINC IONS;SUBUNIT;INTERACTION WITH NCOR1 AND NCOR2;MUTAGENESIS OF HIS-538
16.

"A de novo paradigm for mental retardation."
Vissers L.E. , de Ligt J. , Gilissen C. , Janssen I. , Steehouwer M. , de Vries P. , van Lier B. , Arts P. , Wieskamp N. , del Rosario M. , van Bon B.W. , Hoischen A. , de Vries B.B. , Brunner H.G. , Veltman J.A.
Nat. Genet.42:1109-1112(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN MRD24;VARIANT SER-228
17.

"Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly."
Faqeih E.A. , Al-Owain M. , Colak D. , Kenana R. , Al-Yafee Y. , Al-Dosary M. , Al-Saman A. , Albalawi F. , Al-Sarar D. , Domiaty D. , Daghestani M. , Kaya N.
Am. J. Med. Genet. A164A:1565-1570(2014) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT TRP-226

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