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  4. Recombinant Human Surfeit locus protein 1 (SURF1)

Recombinant Human Surfeit locus protein 1 (SURF1)

  • 货号：
    CSB-CF623002HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    SURF1
  • Uniprot No.：
  • 别名：
    SURF1; SURF-1; Surfeit locus protein 1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-300
  • 氨基酸序列
    MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDS FLQWVLLLIPVTAFGLGTWQVQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPV KVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRG FVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV
    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：
    Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.
  • 基因功能参考文献：
    1. SURF1 mutations may be associated with worse clinical outcome in Chinese patients with Leigh syndrome than other populations. PMID: 29933018
    2. the MT-ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses. PMID: 29481804
    3. Mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth disease. PMID: 24027061
    4. This study suggested that hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. PMID: 22729384
    5. sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2 PMID: 22410471
    6. Study identified 21 patients with clinical features of Leigh syndrome who are either homozygous or compound heterozygous for SURF1 mutations. PMID: 22488715
    7. Analysis of fibroblast cell lines from 9 patients with SURF1 mutations revealed a 70% decrease of the COX complex content to be associated with 32-54% upregulation of respiratory chain complexes I, III and V and accumulation of Cox5a subunit. PMID: 22465034
    8. Analysis of mutations in the SURF1 homolog Shy1 revealed Coa4, a new member of the cytochrome oxidase assembly factor family. PMID: 20624914
    9. mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population. PMID: 20436434
    10. Three novel mutations of the SURF-1 gene were identified in Japanese patients with cytochrome c oxidase deficiency; loss of function of the SURF-1 protein; cytochrome c oxidase activity was decreased to less than 20% of the control mean. PMID: 11955926
    11. new missense mutation of 574C>T in the SURF1 gene in Leigh's syndrome PMID: 12515039
    12. Two novel pathogenic SURF1 mutations have been identified in a patient with Leigh syndrome. PMID: 12538779
    13. Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the brain. PMID: 12812953
    14. Four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of Leigh Syndrome with cytochrome c oxidase deficiency PMID: 14557577
    15. study points to a role for surfeit 1(SURF1) in promoting the association of cytochrome c oxidase II with the cytochrome c oxidase I.cytochrome c oxidase subunit 4.cytochrome c oxidase subunit 5A subassembly PMID: 14607829
    16. a SURF1 mutation may have a role in subacute encephalopathy PMID: 15214016
    17. Surf1p plays a role in facilitating the insertion of heme a3 into the active site of cytochrome-c oxidase. PMID: 15764605
    18. The consequences of SCO2 and SURF1 mutations suggest the existence of tissue-specific functional differences of these proteins that may serve different tissue-specific requirements for the regulation of COX biogenesis. PMID: 16083427
    19. Histological and histochemical features of muscle of genetically homogenous SURF1-deficient LS were reproducible in detection of COX deficit. SURF1-deficient muscle assessed in the microscopy panel may be interpreted as normal if COX staining is not used. PMID: 17908801
    20. Data show high prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. PMID: 18583168
    21. SURF1-deficient samples analyzed showed a tissue-specific copper deficiency similar to that of SCO-deficient samples, suggesting a role for Surf1 in copper homeostasis regulation PMID: 19295170
    22. a direct role of Surf1 in heme a cofactor insertion into COX subunit I by providing a protein-bound heme a pool. PMID: 19625251
    23. The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients. PMID: 19780766

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  • 相关疾病：
    Leigh syndrome (LS); Charcot-Marie-Tooth disease 4K (CMT4K)
  • 亚细胞定位：
    Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    SURF1 family
  • 数据库链接：

    HGNC: 11474

    OMIM: 185620

    KEGG: hsa:6834

    STRING: 9606.ENSP00000361042

    UniGene: Hs.512464