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  4. Recombinant Human Rab proteins geranylgeranyltransferase component A 1 (CHM)

Recombinant Human Rab proteins geranylgeranyltransferase component A 1 (CHM)

  • 中文名称：
    Recombinant Human Rab proteins geranylgeranyltransferase component A 1(CHM),Yeast
  • 货号：
    CSB-YP005356HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Rab proteins geranylgeranyltransferase component A 1(CHM),Yeast
  • 货号：
    CSB-EP005356HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    Recombinant Human Rab proteins geranylgeranyltransferase component A 1(CHM),Yeast
  • 货号：
    CSB-BP005356HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Rab proteins geranylgeranyltransferase component A 1(CHM),Yeast
  • 货号：
    CSB-MP005356HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CHM
  • Uniprot No.：
  • 别名：
    HM; Chm; Choroideraemia protein; Choroideremia; DXS540; FLJ38564; GGTA; HSD 32; MGC102710; Rab escort protein 1; Rab geranylgeranyltransferase component A; Rab proteins geranylgeranyltransferase component A 1; RAE1_HUMAN; REP 1; REP-1; REP1; TCD; TCD protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-653
  • 氨基酸序列
    MADTLPSEFD VIVIGTGLPE SIIAAACSRS GRRVLHVDSR SYYGGNWASF SFSGLLSWLK EYQENSDIVS DSPVWQDQIL ENEEAIALSR KDKTIQHVEV FCYASQDLHE DVEEAGALQK NHALVTSANS TEAADSAFLP TEDESLSTMS CEMLTEQTPS SDPENALEVN GAEVTGEKEN HCDDKTCVPS TSAEDMSENV PIAEDTTEQP KKNRITYSQI IKEGRRFNID LVSKLLYSRG LLIDLLIKSN VSRYAEFKNI TRILAFREGR VEQVPCSRAD VFNSKQLTMV EKRMLMKFLT FCMEYEKYPD EYKGYEEITF YEYLKTQKLT PNLQYIVMHS IAMTSETASS TIDGLKATKN FLHCLGRYGN TPFLFPLYGQ GELPQCFCRM CAVFGGIYCL RHSVQCLVVD KESRKCKAII DQFGQRIISE HFLVEDSYFP ENMCSRVQYR QISRAVLITD RSVLKTDSDQ QISILTVPAE EPGTFAVRVI ELCSSTMTCM KGTYLVHLTC TSSKTAREDL ESVVQKLFVP YTEMEIENEQ VEKPRILWAL YFNMRDSSDI SRSCYNDLPS NVYVCSGPDC GLGNDNAVKQ AETLFQEICP NEDFCPPPPN PEDIILDGDS LQPEASESSA IPEANSETFK ESTNLGNLEE SSE
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    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.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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：
    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 ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation.
  • 基因功能参考文献：
    1. Molecular genetics characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. PMID: 29555028
    2. our results suggest that c.280delA (p.Thr94LeufsTer32) in CHM was a pathogenic mutation in the present choroideremia family as determined by captured exome sequencing. PMID: 29620233
    3. REP1 plays a crucial role in regulating mTOR signaling and its downstream pathways, as well as autophagy and macropinocytosis. PMID: 28846638
    4. All coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. PMID: 28643494
    5. These findings suggest that the CHM promoter region should be examined in patients with CHM who lack coding sequence mutations, and reveals, for the first time, features of the gene's regulation PMID: 28271586
    6. We report here the characterization of the third pathogenic missense CHM variant, p.Leu457Pro. Clinically, the associated phenotype is indistinguishable from that of loss-of-function mutations. PMID: 28911202
    7. Retinal dystrophy and SDD were detected in our female CHM carriers, and fundus patterns PMID: 28752371
    8. Overexpression of REP1 in BEAS-2B cells enhanced cell growth and anchorage-independent colony formation with little increase in EGFR level and STAT3 activation. PMID: 28230863
    9. we demonstrated that REP1 blocked the nuclear trans-localization of FOXO3 through physically interacting with FOXO3, thereby suppressing FOXO3-mediated apoptosis. Importantly, the inhibition of REP1 combined with 5-FU treatment could lead to significant retarded tumor growth in a xenograft tumor model of human cancer cells PMID: 28055019
    10. Our results showed CNV within the Rep-1 gene could be an important contributor in Chinese Choroideremia patients. PMID: 28774736
    11. In Choroideremia(Y42X/y) fibroblasts, there was a recovery of prenylation activity following treatment with either PTC124 (42 +/- 5%) or PTC-414 (36 +/- 11%), although an increase in REP1 protein was not detected in these cells, in contrast to the zebrafish model. PMID: 27329764
    12. We describe the causative mutations in a large cohort of patients who also were examined clinically and explore potential genotype-phenotype correlations. By so doing, we further aimed to make inferences regarding the importance of particular regions of the CHM gene with respect to mutagenesis and to infer the importance of particular regions of the REP1 protein essential for normal function. PMID: 27820636
    13. Six previously reported and five novel CHM mutations were detected in 11 Australian families clinically diagnosed with choroideremia. PMID: 25912515
    14. The family segregated a REP1 mutation, suggesting choroideremia (CHM). PMID: 26720468
    15. We report a novel CHM mutation, c.1475_1476insCA, identified by whole-exome sequencing in a family with X-linked CHM initially diagnosed as retinitis pigmentosa. PMID: 26216097
    16. Sanger sequencing confirmed the mutations in CHM, including four novel (c.558_559delTT, c.964G>T, c.966delA, c.1166+2T>G) and two known (c.7031G>A and c.1584_1587delTGTT) mutations. PMID: 24913019
    17. the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene, are reported. PMID: 24672218
    18. While likely an uncommon event, duplication within the CHM gene could be considered as an explanation for CHM cases in which no mutation is found by sequence analysis. PMID: 23273018
    19. Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases. PMID: 23940504
    20. These findings demonstrate a novel CHM mutation that emphasizes severe posterior pole carrier phenotypes, age-related changes, and early choroideremia disease. PMID: 22965595
    21. In Mainland Chinese families, the central visual acuity of male patients with CHM can be affected at an early age (second decade), whereas female CHM carriers may manifest signs and symptoms at a later age (>/= 45 years). PMID: 22355242
    22. We identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated with CHM that prevents REP1-Rab geranylgeranyl transferase interaction. PMID: 21905166
    23. A novel mutation was detected in CHM gene in family 1. Another mutation within exon 14 of CHM was identified in family 2. The mutations caused night blindness, chorioretinal atrophy, and bareness of the sclera. PMID: 22025891
    24. an interaction between a transmembrane receptor and RGGTA PMID: 21990357
    25. It is suggested that expression levels of alternative transcripts of the CHM gene could be used as a molecular marker system to identify human cancers. PMID: 21939745
    26. Intracellular vesicle transport, lysosomal acidification and rates of proteolytic degradation were studied in Choroideremia patients carrying 10 different loss-of-function REP1 mutations. PMID: 20027300
    27. In vitro assembly and purification of the stoichiometric ternary complex of RabGGTase with REP-1 stabilized by a hydrolysis-resistant phosphoisoprenoid analog--farnesyl phosphonyl(methyl)phoshonate. PMID: 11886217
    28. We report for the first time the identification of an intronic mutation remote from the exon-intron junctions that creates a strong acceptor splice site and leads to the inclusion of a cryptic exon into the CHM mRNA. PMID: 12827496
    29. Frameshift mutation of REP-1 gene is associated with choroideremia PMID: 14566650
    30. The C terminus of the REP-1 molecule functions as a mobile lid covering a conserved hydrophobic patch on the surface of REP-1 that in the complex coordinates the C terminus of Rab proteins. PMID: 15186776
    31. Chm is essential for diploid trophoblast development and plays a role in the vascularization in placenta and yolk sac PMID: 15242790
    32. DNA analysis revealed that the patient was heterozygous for a previously undescribed substitution mutation at the 3'-splice site of intron 6 of the CHM gene (850-1 G to C), confirmed by mRNA analysis with reverse transcriptase polymerase chain reaction. PMID: 15465555
    33. The s found a 402delT and a 555-556delAG mutation in the CHM gene, one of which (402delT) is a novel mutation. PMID: 15579993
    34. Normal electroretinogram is preserved in patients with nonsense mutation in exon 6 of the choroideremia CHM gene. PMID: 16087855
    35. The results represent in vivo evidence in humans for retinal remodeling and provide a marker for the earliest stage of this response to genetic retinal disease. PMID: 16936131
    36. Deletion of the CHM gene causes severe choroideremia. Results of serial ERGs and fundus examinations documented progression first of rod and then of cone disease. PMID: 17698759
    37. This is the first study reporting mutations in the CHM gene in Chinese families. Mutational analysis was performed at the DNA, mRNA and protein levels. Five truncating mutations were found, and two of these were novel. PMID: 18087237
    38. Novel type of mutation did not result in a truncated or absent protein. Rather, these patients lost different parts of the REP-1 mRNA in-frame that in all the cases encode a conserved protein domain implicated in the interaction with Rab proteins. PMID: 18385043
    39. Fundus autofluorescence patterin is specific to syndromic choroideremia carriers and thus will help to identify and differentiate between carriers of other X-linked recessive carrier states such as in X-linked retinitis pigmentosa. PMID: 18487380
    40. When over-expressed in cells, REP wild-type and mutants are unable to form stable cytosolic complexes with endogenous unprenylated Rabs. PMID: 18532927
    41. A novel (967-970+2)delAAAGGT mutation existed in the CHM gene of a Japanese family with choroideremia. PMID: 18773267
    42. All 6 carriers of CHM showed a characteristic FAF pattern that can guide mutation analysis. PMID: 19376587
    43. Genomic DNA from the living brother revealed a transition mutation, C to T, in exon 6 which resulted in a stop codon and was predicted to truncate the protein product. PMID: 19422966
    44. report pathogenic mutations: a novel missense mutation, L550P; a truncation c.1542T>A, STOP; and two deletions (c.525_526delAG and c.1646delC) in the CHM gene and their phenotypic effect in choroideremia PMID: 19427510
    45. The typical mottled irregularity in fundus autofluorescence is a valuable diagnostic criterion that facilitates specific genetic testing. PMID: 19597113
    46. CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. PMID: 19764077

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  • 相关疾病：
    Choroideremia (CHM)
  • 亚细胞定位：
    Cytoplasm, cytosol.
  • 蛋白家族：
    Rab GDI family
  • 数据库链接：

    HGNC: 1940

    OMIM: 300390

    KEGG: hsa:1121

    STRING: 9606.ENSP00000350386

    UniGene: Hs.496449