BSCL2 ELISA Kit for Human(Homo sapiens) | EIAab.comBSCL2 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > BSCL2(Gene name) > Human

BSCL2 (Gene name),

Seipin (Protein name ), BSCL2_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

BSCL2;

Protein name:

Seipin;

Alternative:

Bernardinelli-Seip congenital lipodystrophy type 2 protein;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

N/A

Subcellular Location:

Endoplasmic reticulum membrane Multi-pass membrane protein

Protein Attributes:

Sequence length:

398

Sequence:

50:

100:

150:

200:

250:

300:

350:

398:

SWEDAALLTE | ANLPAPAPAS | ASAPVLETLG | SSEPAGGALR | QRPTCSSS

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

KEGG:

hsa:26580

String:

Q96G97

Pfam:

PF06775

MIM:

269700

STRING:

9606.ENSP00000354032

UniGene:

Hs.533709

Uniprot:

Q96G97

FOR

ELISA Kit for Human Seipin

CLIA Kit for Human Seipin

Polyclonal Antibody for Human Seipin

Monoclonal Antibody for Human Seipin

Protein for Human Seipin

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.

"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 2)
tissue: Retinoblastoma.
tissue: Teratocarcinoma.
2.

Yu W. , Sarginson J. , Gibbs R.A.
Submitted (1998-03) 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 [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Brain.
3.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-07) 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 [LARGE SCALE GENOMIC DNA]
4.

"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]
5.

"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: Kidney.
tissue: Lung.
tissue: Pancreas.
tissue: Pituitary.
6.

"Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13."
Magre J. , Delepine M. , Khallouf E. , Gedde-Dahl T. Jr. , Van Maldergem L. , Sobel E. , Papp J. , Meier M. , Megarbane A. , Bachy A. , Verloes A. , d'Abronzo F.H. , Seemanova E. , Assan R. , Baudic N. , Bourut C. , Czernichow P. , Huet F. , more...
Nat. Genet.28:365-370(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: TISSUE SPECIFICITY;VARIANT CGL2 PRO-212
7.

"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome."
Windpassinger C. , Auer-Grumbach M. , Irobi J. , Patel H. , Petek E. , Hoerl G. , Malli R. , Reed J.A. , Dierick I. , Verpoorten N. , Warner T.T. , Proukakis C. , Van den Bergh P. , Verellen C. , Van Maldergem L. , Merlini L. , De Jonghe P. , Timmerman V. , more...
Nat. Genet.36:271-276(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: SUBCELLULAR LOCATION;GLYCOSYLATION AT ASN-88;VARIANTS SPG17 AND HMN5A SER-88 AND LEU-90
8.

"Membrane topology of the human seipin protein."
Lundin C. , Nordstrom R. , Wagner K. , Windpassinger C. , Andersson H. , von Heijne G. , Nilsson I.
FEBS Lett.580:2281-2284(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: SUBCELLULAR LOCATION;TOPOLOGY
9.

"The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation."
Payne V.A. , Grimsey N. , Tuthill A. , Virtue S. , Gray S.L. , Dalla Nora E. , Semple R.K. , O'Rahilly S. , Rochford J.J.
Diabetes57:2055-2060(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: SUBCELLULAR LOCATION;TISSUE SPECIFICITY;VARIANT PRO-212
10.

"Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17."
Ito D. , Fujisawa T. , Iida H. , Suzuki N.
Neurobiol. Dis.31:266-277(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: TISSUE SPECIFICITY;CHARACTERIZATION OF VARIANT SPG17 SER-88
11.

"Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy."
Boutet E. , El Mourabit H. , Prot M. , Nemani M. , Khallouf E. , Colard O. , Maurice M. , Durand-Schneider A.M. , Chretien Y. , Gres S. , Wolf C. , Saulnier-Blache J.S. , Capeau J. , Magre J.
Biochimie91:796-803(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: FUNCTION
12.

"Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation."
Tian Y. , Bi J. , Shui G. , Liu Z. , Xiang Y. , Liu Y. , Wenk M.R. , Yang H. , Huang X.
PLoS Genet.7:E1001364-E1001364(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: FUNCTION;VARIANT LEU-90
13.

"A new seipin-associated neurodegenerative syndrome."
Guillen-Navarro E. , Sanchez-Iglesias S. , Domingo-Jimenez R. , Victoria B. , Ruiz-Riquelme A. , Rabano A. , Loidi L. , Beiras A. , Gonzalez-Mendez B. , Ramos A. , Lopez-Gonzalez V. , Ballesta-Martinez M.J. , Garrido-Pumar M. , Aguiar P. , Ruibal A. , Requena J.R. , Araujo-Vilar D.
J. Med. Genet.50:401-409(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: INVOLVEMENT IN PELD

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