Your Good Partner in Biology Research

  1. 首页
  2. 蛋白
  3. 跨膜蛋白
  4. Recombinant Human Seipin (BSCL2)

Recombinant Human Seipin (BSCL2)

  • 货号：
    CSB-CF842676HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    BSCL2
  • Uniprot No.：
  • 别名：
    BSCL2; Seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-398
  • 氨基酸序列
    MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTV SHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVN QDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLE VELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTE ANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis. In association with LDAF1, defines the sites of LD formation in the ER. Also required for growth and maturation of small nascent LDs into larger mature LDs. Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs. Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts. Binds anionic phospholipids including phosphatidic acid. Plays an important role in the differentiation and development of adipocytes.
  • 基因功能参考文献：
    1. SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients. PMID: 29336362
    2. In this Chinese Han population the novel Charcot-Marie-Tooth disease-associated gene mutations BSCL2 was discovered. PMID: 27862672
    3. Mutation in BSCL2 gene is associated with Type 2 congenital generalized lipodystrophy. PMID: 28916377
    4. These data identify SEIPIN as an evolutionarily conserved regulator of microsomal GPAT. PMID: 27806294
    5. We identified a novel BSCL2 mutation, c.213-1336_c.294 + 1921delinsCA, which is expected to result in p.Thr72Cysfs*2, among classical Berardinelli-Seip syndrome patients in northern Peru. This null mutation was shared by five patients from two pedigrees, indicating the presence of a founder mutation. PMID: 27868354
    6. Results provide evidence that the hepatic BSCL2 deficiency induces the increase and expansion of lipid droplets potentially via increased SCD1 activity. PMID: 27838812
    7. results suggest that Celia seipin is probably playing an underestimated role in adipocyte maturation, but not in senescence, and its expression can be modified by exogenous factors as fatty acids. PMID: 27391332
    8. Data show that all three patients exhibited characteristic features of congenital generalized lipodystrophy (CGL) due to mutations in the Bernardinelli-Seip congenital (BSCL2) gene. PMID: 27612026
    9. Together, these data suggest that seipin helps to connect newly formed lipid droplets to the endoplasmic reticulum and that by stabilizing endoplasmic reticulum-lipid droplet contacts seipin facilitates the incorporation of protein and lipid cargo into growing lipid droplets in human cells. PMID: 27879284
    10. Increased aggregation and subsequent impaired oligomerization of Celia seipin leads to cell death. In heterozygous carriers, wildtype seipin might prevent the damage caused by mutant seipin through its sequestration into harmless mixed oligomers. PMID: 26282322
    11. BSCL2 defines the localization of adipose differentiation-related protein, which has a role in lipid accumulation and adipogenic differentiation PMID: 26975546
    12. BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with distal hereditary motor neuropathy. PMID: 26815532
    13. We confirmed reduction of brain volume and number of sperm in human patients with BSCL2 mutation. This is the first report demonstrating that seipin is necessary for normal brain development and spermatogenesis PMID: 25934999
    14. The S90L mutationof BSCL2 is predominantly associated with Silver syndrome PMID: 25487175
    15. The mutation of seipin at glycosylation sites disrupt its function in regulating lipid droplet metabolism, and the autophagy acts as an adaptive response to break down abnormal lipid droplets. PMID: 25832430
    16. a brief overview of the genetic association of the CGLs, and focus on the current understanding of differential contributions of distinct seipin domains to lipid storage and adipogenesis. PMID: 25195639
    17. A missense mutation was found in BSCL2 N88S, in a patient with Silver syndrome. PMID: 25219579
    18. A homozygous and truncating mutation was identified in the BSCL2 gene suggesting congenital generalized lipodystrophy. PMID: 24961962
    19. Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice. PMID: 24778225
    20. This study presents potential molecular mechanisms by which different pathogenic mutations in the human lipodystrophy protein seipin may cause severe lipodystrophy. PMID: 23989774
    21. Our results suggest that exon 7 skipping in the BSCL2 gene due to the c.985C>T mutation is responsible for a novel early onset, fatal neurodegenerative syndrome involving cerebral cortex and basal ganglia. PMID: 23564749
    22. Mutation identified in BSCL2 gene causing congenital generalized lipodystrophy Pakistani population. PMID: 23659685
    23. This study analysed the relationship between hepacivirus (HCV) and seipin, a protein involved in lipid droplet maturation, and suggested that the outer surface of lipid droplets is a critical factor for HCV release. PMID: 23907395
    24. This study showed that a A novel polymorphism G-->T was found in the Berardinelli-Seip congenital lipodystrophy 2 gene on intron 4 in patient with hereditary motor neuropathy type V in Italy family. PMID: 22427291
    25. Identification of a known BSCL2 mutation in a family with Charcot-Marie-Tooth disease. PMID: 23553728
    26. This report expands the variability of the clinical spectrum associated with the BSCL2 gene and describes the first family with the p.S90W mutation. PMID: 23142943
    27. The mutant seipin (Bscl2) formed protein aggregates in the CNS neurons of transgenic mice and caused a specific loss of alpha motor neurons in the ventral horn of spinal cord. PMID: 23470542
    28. role of seipin in human disease PMID: 22474068
    29. the increased expression of seipin markedly reduced the mass of white adipose tissue and the size of adipocytes and lipid droplets PMID: 22234369
    30. the biochemical characteristics of seipin and its mis-sense mutants PMID: 21957196
    31. N88S seipin mutant transgenic mice develop motor neuron disease via endoplasmic reticulum stress. PMID: 21750110
    32. Case Report: novel BSCL2 mutation in an Indian patient with congenital generalized lipodystrophy associated with normal intellectual ability. PMID: 18690553
    33. DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients with distal hereditary motor neuropathy type V PMID: 20598714
    34. study of an Italian family with a Charcot-Marie-Tooth disease type 2 phenotype with pyramidal signs; in the 3 affected siblings an S90L mutation was revealed; confirms variability of phenotypes associated with Ser90Leu mutation PMID: 20806400
    35. Japanese CGL patients with BSCL2 mutations presented with severe insulin resistance, even during infancy, prior to the development of diabetes mellitus PMID: 19438831
    36. This report suggests that a different type of distal hereditary motor neuropathy could exist within one family carrying N88S mutations in BSCL2. PMID: 19323790
    37. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. PMID: 14981520
    38. We identified a novel nonsense mutation of seipin at codon 275 (R275X). Of four congenital generalized lipodystrophy patients, three were homozygous for R275X. No seipin mutation was found in any exon in one patient. PMID: 15126564
    39. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders. PMID: 15732094
    40. description of two Dutch families with BSCL2 mutations and phenotypic variability of the gene mutation. Features are compatible with Silver syndrome, variant Silver syndrome (foot rather than hand involvement), distal HMN type II, or distal HMN type V. PMID: 16427281
    41. This study reaffirms the clinical phenotype of the disorders associated with a BSCL2 Ser90Leu mutation and describes a genetically proven family with Silver syndrome and dHMN type V in Asia. PMID: 17486577
    42. The 669insA mutation in exon 4 of the BSCL2 gene was identified as the major genetic alteration leading to BSCL in a group of 22 patients from the northeastern Brazilian state of Rio Grande do Norte. PMID: 17535271
    43. Our data confirm that most likely only two mutations (N88S, S90L) in exon 3 of BSCL2 may lead to dHMN-V or SS phenotypes. PMID: 17663003
    44. seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology PMID: 18093937
    45. Silver syndrome--related to the N88S mutation in the BSCL2 gene--is characterized by a spectrum of clinical findings PMID: 18224579
    46. These results suggest that an evolutionally conserved function of seipin in phospholipid metabolism and LD formation may be functionally important in human adipogenesis. PMID: 18250201
    47. Study demonstrates that BSCL2 is an essential, cell-autonomous regulator of adipogenesis. PMID: 18458148
    48. The transmembrane domains in seipin are critical for ER retention, ubiquitination, formation of inclusions, and activation of UPR. Seipin expression is detected in neurons in the spinal cord and in the frontal lobe cortex of the brain. PMID: 18585921
    49. Here we report the third Italian family with dHMN and SPG17 in which two affected members harbor the heterozygous N88S mutation in the BSCL2 gene. PMID: 18612770
    50. A new subtype of congenital generalized lipodystrophy is not associated with the BSCL2 gene. PMID: 18698612

    显示更多

    收起更多

  • 相关疾病：
    Congenital generalized lipodystrophy 2 (CGL2); Spastic paraplegia 17, autosomal dominant (SPG17); Neuronopathy, distal hereditary motor, 5A (HMN5A); Encephalopathy, progressive, with or without lipodystrophy (PELD)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein. Lipid droplet.
  • 蛋白家族：
    Seipin family
  • 组织特异性：
    Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue.
  • 数据库链接：

    HGNC: 15832

    OMIM: 269700

    KEGG: hsa:26580

    STRING: 9606.ENSP00000354032

    UniGene: Hs.533709