CHD7 ELISA Kit for Human(Homo sapiens) | EIAab.comCHD7 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > CHD7(Gene name) > Human

CHD7 (Gene name),

Chromodomain-helicase-DNA-binding protein 7 (Protein name ), CHD7_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

CHD7(KIAA1416);

Protein name:

Chromodomain-helicase-DNA-binding protein 7(CHD-7);

Alternative:

ATP-dependent helicase CHD7;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

May interact with CTCF.

Function:

Probable transcription regulator.

Subcellular Location:

Nucleus

Protein Attributes:

Sequence length:

2997

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2997:

ETLEGSDAEE | SLDKTAESSL | LEDEIAQGEE | LDSLDGGDEI | ENNENDE

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

STRING:

9606.ENSP00000392028

Pfam:

PF07533

MIM:

214800

UniGene:

Hs.20395

String:

Q9P2D1

KEGG:

hsa:55636

SMR:

Q9P2D1

MIM:

146110

Uniprot:

Q9P2D1

FOR

ELISA Kit for Human CHD-7

CLIA Kit for Human CHD-7

Polyclonal Antibody for Human CHD-7

Monoclonal Antibody for Human CHD-7

Protein for Human CHD-7

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Cloning and chracterization of a novel alternatively spliced transcript of the human putative helicase CHD7."
Colin C. , Correa R.G. , Tobaruella F.S. , Sogayar M.C. , Demasi M.A.
Submitted (2009-10) 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 4);ALTERNATIVE SPLICING
2.

"DNA sequence and analysis of human chromosome 8."
Nusbaum C. , Mikkelsen T.S. , Zody M.C. , Asakawa S. , Taudien S. , Garber M. , Kodira C.D. , Schueler M.G. , Shimizu A. , Whittaker C.A. , Chang J.L. , Cuomo C.A. , Dewar K. , FitzGerald M.G. , Yang X. , Allen N.R. , Anderson S. , Asakawa T. , more...
Nature439:331-335(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
3.

"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T. , Kikuno R. , Ishikawa K. , Hirosawa M. , Ohara O.
DNA Res.7:65-73(2000) [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] OF 763-2729 (ISOFORM 1)
tissue: Brain.
4.

"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D. , Okazaki N. , Yamakawa H. , Kikuno R. , Ohara O. , Nagase T.
DNA Res.9:99-106(2002) [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: SEQUENCE REVISION
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] OF 853-2997 (ISOFORM 2);NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2305-2997 (ISOFORM 1)
tissue: Hepatoma.
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] OF 1-639 AND 763-2997 (ISOFORM 1)
tissue: Blood.
tissue: Brain.
tissue: Eye.
tissue: Lung.
tissue: Placenta.
tissue: Skin.
7.

"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S. , Ballif B.A. , Smogorzewska A. , McDonald E.R. III , Hurov K.E. , Luo J. , Bakalarski C.E. , Zhao Z. , Solimini N. , Lerenthal Y. , Shiloh Y. , Gygi S.P. , Elledge S.J.
Science316:1160-1166(2007) [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]
tissue: Embryonic kidney.
8.

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2356; SER-2533; THR-2551 AND SER-2559;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
9.

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V. , Lundgren D.H. , Hwang S.-I. , Rezaul K. , Wu L. , Eng J.K. , Rodionov V. , Han D.K.
Sci. Signal.2:RA46-RA46(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2559;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Leukemic T-cell.
10.

"CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome."
Batsukh T. , Pieper L. , Koszucka A.M. , von Velsen N. , Hoyer-Fender S. , Elbracht M. , Bergman J.E. , Hoefsloot L.H. , Pauli S.
Hum. Mol. Genet.19:2858-2866(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: INTERACTION WITH CHD8;SUBCELLULAR LOCATION;CHARACTERIZATION OF VARIANTS CHARGES ARG-2091; ARG-2096 AND ARG-2108;CHARACTERIZATION OF VARIANT ILE-2102
11.

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
Sci. Signal.3:RA3-RA3(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1874; SER-2251; SER-2395; THR-2472; SER-2533; THR-2551; SER-2559; SER-2619; SER-2956 AND SER-2961;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
12.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [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]
13.

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(2011) [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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-637; SER-725; SER-1577; SER-1581; SER-1874; SER-2231; SER-2233; SER-2237; SER-2251; SER-2272; SER-2275; SER-2533; SER-2535; SER-2559; SER-2956 AND SER-2961;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
14.

"Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L."
Kita Y. , Nishiyama M. , Nakayama K.I.
Genes Cells17:536-547(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: ALTERNATIVE SPLICING (ISOFORM 3);FUNCTION;SUBCELLULAR LOCATION;TISSUE SPECIFICITY
15.

"CHD7 gene and non-syndromic cleft lip and palate."
Felix T.M. , Hanshaw B.C. , Mueller R. , Bitoun P. , Murray J.C.
Am. J. Med. Genet. A140:2110-2114(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: VARIANTS LEU-466; VAL-511; VAL-522; ALA-527; PRO-1745; LYS-2077; ILE-2102; MET-2112 AND CYS-2319
16.

"Mutation update on the CHD7 gene involved in CHARGE syndrome."
Janssen N. , Bergman J.E. , Swertz M.A. , Tranebjaerg L. , Lodahl M. , Schoots J. , Hofstra R.M. , van Ravenswaaij-Arts C.M. , Hoefsloot L.H.
Hum. Mutat.33:1149-1160(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: VARIANTS CHARGES CYS-840; SER-1020; VAL-1028; ARG-1031; ASN-1082; ARG-1101; ARG-1214; PRO-1292; ARG-1318; HIS-1345; SER-1684; VAL-1797; HIS-1812; GLY-1812; PRO-1815; ARG-2091; ARG-2108 AND ALA-2286;VARIANTS LEU-37; CYS-72; ALA-93; PRO-99; LEU-167; LEU-238; GLU-254; GLY-286; SER-439; PRO-524; ALA-558; LYS-596; GLY-699; SER-744; ASN-812; ALA-942; HIS-944; ARG-975; SER-1081; ARG-1251; CYS-1317; SER-1594; ASP-1617; VAL-1619; VAL-1672; GLY-1866; GLY-1972; TRP-2062; PRO-2074; GLY-2097; ILE-2102; MET-2112; ASP-2118; THR-2225; THR-2259; THR-2312; ALA-2330; ARG-2366; SER-2415; GLU-2464; ASP-2488; CYS-2491; GLN-2653; VAL-2725; LEU-2750; VAL-2780; THR-2789 AND ALA-2857
17.

"Solution structure of the BRK domains from CHD7."
Allen M.D. , Religa T.L. , Freund S.M. , Bycroft M.
J. Mol. Biol.371:1135-1140(2007) [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 2561-2715;INTERACTION WITH CTCF
18.

"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome."
Vissers L.E.L.M. , van Ravenswaaij C.M.A. , Admiraal R. , Hurst J.A. , de Vries B.B.A. , Janssen I.M. , van der Vliet W.A. , Huys E.H.L.P.G. , de Jong P.J. , Hamel B.C.J. , Schoenmakers E.F.P.M. , Brunner H.G. , Veltman J.A. , Geurts van Kessel A.
Nat. Genet.36:955-957(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: VARIANTS CHARGES VAL-1028 AND ARG-1257;TISSUE SPECIFICITY
19.

"Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation."
Lalani S.R. , Safiullah A.M. , Fernbach S.D. , Harutyunyan K.G. , Thaller C. , Peterson L.E. , McPherson J.D. , Gibbs R.A. , White L.D. , Hefner M. , Davenport S.L.H. , Graham J.M. , Bacino C.A. , Glass N.L. , Towbin J.A. , Craigen W.J. , Neish S.R. , Lin A.E. , more...
Am. J. Hum. Genet.78:303-314(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: VARIANTS CHARGES GLY-1031; ARG-1214; PRO-1294; PRO-1815; ARG-2096 AND SER-2319
20.

"CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis."
Gao X. , Gordon D. , Zhang D. , Browne R. , Helms C. , Gillum J. , Weber S. , Devroy S. , Swaney S. , Dobbs M. , Morcuende J. , Sheffield V. , Lovett M. , Bowcock A. , Herring J. , Wise C.
Am. J. Hum. Genet.80:957-965(2007) [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 SUSCEPTIBILITY TO IS3
21.

"Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."
Kim H.-G. , Kurth I. , Lan F. , Meliciani I. , Wenzel W. , Eom S.H. , Kang G.B. , Rosenberger G. , Tekin M. , Ozata M. , Bick D.P. , Sherins R.J. , Walker S.L. , Shi Y. , Gusella J.F. , Layman L.C.
Am. J. Hum. Genet.83:511-519(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: VARIANTS HH5 ARG-55; PHE-834; LEU-2880 AND GLU-2948;VARIANT THR-2789
22.

"Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability."
Jongmans M.C. , Hoefsloot L.H. , van der Donk K.P. , Admiraal R.J. , Magee A. , van de Laar I. , Hendriks Y. , Verheij J.B. , Walpole I. , Brunner H.G. , van Ravenswaaij C.M.
Am. J. Med. Genet. A146:43-50(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: VARIANT CHARGES ARG-2108
23.

"Mutations in the CHD7 gene: the experience of a commercial laboratory."
Bartels C.F. , Scacheri C. , White L. , Scacheri P.C. , Bale S.
Genet. Test. Mol. Biomarkers14:881-891(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: VARIANTS CHARGES ASP-871; VAL-1028; PRO-1294; HIS-1395; SER-1684; ARG-1739 AND ASN-2116;VARIANTS ILE-41; ARG-86; THR-103; ARG-201; MET-238; VAL-340; ALA-369; LEU-466; VAL-522; ALA-558; VAL-636; THR-699; ASN-728; SER-744; ALA-894; THR-907; MET-917; LYS-938; HIS-944; GLN-947; GLN-1203; ASP-1208; PRO-1322; CYS-1345; ARG-1416; GLN-1457; CYS-1576; SER-1617; GLU-1791; GLY-1866; THR-1950; HIS-2065; GLY-2084; ASP-2103; THR-2160; THR-2225; CYS-2319; ALA-2330; SER-2495; LEU-2527; SER-2683; CYS-2702; THR-2733; VAL-2806; ALA-2857; MET-2931 AND PHE-2984
24.

"CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome."
Song M.H. , Cho H.J. , Lee H.K. , Kwon T.J. , Lee W.S. , Oh S. , Bok J. , Choi J.Y. , Kim U.K.
PLoS ONE6:E24511-E24511(2011) [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 CHARGES SER-2065
25.

"Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome."
Husu E. , Hove H. , Farholt S. , Bille M. , Tranebjaerg L. , Vogel I. , Kreiborg S.
Clin. Genet.83:125-134(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: VARIANTS CHARGES SER-1684 AND GLY-2418;VARIANT GLN-2653
26.

"CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin."
Pauli S. , von Velsen N. , Burfeind P. , Steckel M. , Manz J. , Buchholz A. , Borozdin W. , Kohlhase J.
Clin. Genet.81:234-239(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: VARIANTS CHARGES SER-1020 AND ASP-1802

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