RAG1 ELISA Kit for Human(Homo sapiens) | EIAab.comRAG1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > RAG1(Gene name) > Human

RAG1 (Gene name),

V(D)J recombination-activating protein 1 (Protein name ), RAG1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

RAG1(RNF74);

Protein name:

V(D)J recombination-activating protein 1(RAG-1);

Alternative:

RING finger protein 74;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer. Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or HMGB2.

Function:

Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as a E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitination of KPNA1.

Subcellular Location:

Nucleus

Protein Attributes:

Sequence length:

1043

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1043:

YLQKFMNAHN | ALKTSGFTMN | PQASLGDPLG | IEDSLESQDS | MEF

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

String:

P15918

MIM:

179615

Pfam:

PF12940

SMR:

P15918

KEGG:

hsa:5896

STRING:

9606.ENSP00000299440

UniGene:

Hs.677010

Uniprot:

P15918

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ELISA Kit for Human RAG-1

Cat.:

E1550h

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96T

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ELISA Kit for Human RAG-1

Cat.:

E1550c

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96T

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ELISA Kit for Human RAG-1

Cat.:

E1550p

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96T

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ELISA Kit for Human RAG-1

Cat.:

E1550m

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96T

ELISA Kit for Human RAG-1

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CLIA Kit for Human RAG-1

Cat.:

U1550p

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96T

CLIA Kit for Human RAG-1

Cat.:

U1550m

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96T

CLIA Kit for Human RAG-1

Cat.:

U1550c

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Packing:

96T

CLIA Kit for Human RAG-1

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CLIA Kit for Human RAG-1

Cat.:

U1550h

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96T

Polyclonal Antibody for Human RAG-1

Cat.:

P1550Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human RAG-1

Cat.:

P1550Rb-h

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human RAG-1

Monoclonal Antibody for Human RAG-1

Protein for Human RAG-1

R&D Technical Data

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

Precision

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Recovery

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Linearity

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References

1.

"The V(D)J recombination activating gene, RAG-1."
Schatz D.G. , Oettinger M.A. , Baltimore D.
Cell59:1035-1048(1989) [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 1);VARIANT ARG-249
2.

NIEHS SNPs program
Submitted (2002-07) 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 [GENOMIC DNA]
3.

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D. , Noguchi H. , Totoki Y. , Toyoda A. , Kuroki Y. , Dewar K. , Lloyd C. , Itoh T. , Takeda T. , Kim D.-W. , She X. , Barlow K.F. , Bloom T. , Bruford E. , Chang J.L. , Cuomo C.A. , Eichler E. , FitzGerald M.G. , more...
Nature440:497-500(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]
4.

"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 2);VARIANT ARG-249
tissue: Testis.
5.

"RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1."
Cortes P. , Ye Z.-S. , Baltimore D.
Proc. Natl. Acad. Sci. U.S.A.91:7633-7637(1994) [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 OF IMPORTIN ALPHA-1 BINDING DOMAIN
6.

"Two new variants of RAG-1 protein predicted by SSCP."
Nomdedeu J.F. , Lasa A. , Seminago R. , Rubiol E. , Baiget M. , Soler J.
Hum. Mutat.8:191-192(1996) [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 GLY-244 AND ARG-249
7.

"RAG mutations in human B cell-negative SCID."
Schwarz K. , Gauss G.H. , Ludwig L. , Pannicke U. , Li Z. , Linder D. , Friedrich W. , Seger R.A. , Hansen-Hagge T.E. , Desiderio S. , Lieber M.R. , Bartram C.R.
Science274:97-99(1996) [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 T(-)B(-)NK(+) SCID HIS-624 AND LYS-722;VARIANT VAL-156
8.

"Partial V(D)J recombination activity leads to Omenn syndrome."
Villa A. , Santagata S. , Bozzi F. , Giliani S. , Frattini A. , Imberti L. , Gatta L.B. , Ochs H.D. , Schwarz K. , Notarangelo L.D. , Vezzoni P. , Spanopoulou E.
Cell93:885-896(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: VARIANTS OS CYS-396; HIS-396; GLY-429; HIS-561; CYS-561; HIS-737 AND CYS-912
9.

"Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders."
Wada T. , Takei K. , Kudo M. , Shimura S. , Kasahara Y. , Koizumi S. , Kawa-Ha K. , Ishida Y. , Imashuku S. , Seki H. , Yachie A.
Clin. Exp. Immunol.119:148-155(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: VARIANTS OS CYS-396 AND ARG-885
10.

"V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations."
Villa A. , Sobacchi C. , Notarangelo L.D. , Bozzi F. , Abinun M. , Abrahamsen T.G. , Arkwright P.D. , Baniyash M. , Brooks E.G. , Conley M.E. , Cortes P. , Duse M. , Fasth A. , Filipovich A.M. , Infante A.J. , Jones A. , Mazzolari E. , Muller S.M. , more...
Blood97:81-88(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: VARIANTS OS TYR-328; LEU-396; PRO-401; GLN-410; MET-433; VAL-435; VAL-444; HIS-474; TRP-507; CYS-522 SER-559; CYS-624; GLY-669; LEU-753 AND GLN-975;VARIANT ILE-855
11.

"A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection."
de Villartay J.-P. , Lim A. , Al-Mousa H. , Dupont S. , Dechanet-Merville J. , Coumau-Gatbois E. , Gougeon M.-L. , Lemainque A. , Eidenschenk C. , Jouanguy E. , Abel L. , Casanova J.-L. , Fischer A. , Le Deist F.
J. Clin. Invest.115:3291-3299(2005) [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 T-CMVA TRP-841 AND PRO-981
12.

"An immunodeficiency disease with RAG mutations and granulomas."
Schuetz C. , Huck K. , Gudowius S. , Megahed M. , Feyen O. , Hubner B. , Schneider D.T. , Manfras B. , Pannicke U. , Willemze R. , Knuechel R. , Goebel U. , Schulz A. , Borkhardt A. , Friedrich W. , Schwarz K. , Niehues T.
N. Engl. J. Med.358:2030-2038(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 CHIDG TRP-314; TRP-507; HIS-737; GLN-778 AND TRP-975;CHARACTERIZATION OF VARIANTS CHIDG TRP-314; TRP-507; HIS-737; GLN-778 AND TRP-975
13.

"Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia."
Alsmadi O. , Al-Ghonaium A. , Al-Muhsen S. , Arnaout R. , Al-Dhekri H. , Al-Saud B. , Al-Kayal F. , Al-Saud H. , Al-Mousa H.
BMC Med. Genet.10:116-116(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: VARIANTS T(-)B(-)NK(+) SCID MET-433; SER-559 AND HIS-624;VARIANTS OS HIS-396 AND PRO-401
14.

"Highly variable clinical phenotypes of hypomorphic RAG1 mutations."
Avila E.M. , Uzel G. , Hsu A. , Milner J.D. , Turner M.L. , Pittaluga S. , Freeman A.F. , Holland S.M.
Pediatrics126:E1248-E1252(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: VARIANT CYS-474
15.

"Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome."
Dalal I. , Tasher D. , Somech R. , Etzioni A. , Garti B.Z. , Lev D. , Cohen S. , Somekh E. , Leshinsky-Silver E.
Clin. Immunol.140:284-290(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 OS GLN-454
16.

"Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome."
Zhang Z.Y. , Zhao X.D. , Jiang L.P. , Liu E.M. , Cui Y.X. , Wang M. , Wei H. , Yu J. , An Y.F. , Yang X.Q.
Pediatr. Allergy Immunol.22:482-487(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 OS TRP-699

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