Recombinant Human KHDC3-like protein (KHDC3L)

中文名稱：

人KHDC3L重組蛋白
貨號：

CSB-YP691268HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人KHDC3L重組蛋白
貨號：

CSB-EP691268HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人KHDC3L重組蛋白
貨號：

CSB-EP691268HU-B
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
共軛：

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：

中文名稱：

人KHDC3L重組蛋白
貨號：

CSB-BP691268HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人KHDC3L重組蛋白
貨號：

CSB-MP691268HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

KHDC3L
Uniprot No.：

Q587J8
別名：

KHDC3L; C6orf221; ECAT1KHDC3-like protein; ES cell-associated transcript 1 protein
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區(qū)域：

1-217
氨基酸序列

MDAPRRFPTL VQLMQPKAMP VEVLGHLPKR FSWFHSEFLK NPKVVRLEVW LVEKIFGRGG ERIPHVQGMS QILIHVNRLD PNGEAEILVF GRPSYQEDTI KMIMNLADYH RQLQAKGSGK ALAQDVATQK AETQRSSIEV REAGTQRSVE VREAGTQRSV EVQEVGTQGS PVEVQEAGTQ QSLQAANKSG TQRSPEAASK AVTQRFREDA RDPVTRL
蛋白標(biāo)簽：

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.
產(chǎn)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.
復(fù)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.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)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.
貨期：

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.
注意事項：

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.

產(chǎn)品評價

靶點詳情

功能：

As part of the OOEP-KHDC3 scaffold, recruits BLM and TRIM25 to DNA replication forks, thereby promoting the ubiquitination of BLM by TRIM25, enhancing BLM retainment at replication forks and therefore promoting stalled replication fork restart. Regulates homologous recombination-mediated DNA repair via recruitment of RAD51 to sites of DNA double-strand breaks, and sustainment of PARP1 activity, which in turn modulates downstream ATM or ATR activation. Activation of ATM or ATR in response to DNA double-strand breaks may be cell-type specific. Its role in DNA double-strand break repair is independent of its role in restarting stalled replication forks. As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics. Required for maintenance of euploidy during cleavage-stage embryogenesis. Required for the formation of F-actin cytoplasmic lattices in oocytes which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning. Ensures proper spindle assembly by regulating the localization of AURKA via RHOA signaling and of PLK1 via a RHOA-independent process. Required for the localization of MAD2L1 to kinetochores to enable spindle assembly checkpoint function. Promotes neural stem cell neurogenesis and neuronal differentiation in the hippocampus. May regulate normal development of learning, memory and anxiety. Capable of binding RNA.
基因功能參考文獻：
1. study indicates that ECAT1 may play a role in meiotic progression by maintaining the accuracy of spindle assembly in human oocytes, thus promoting oocyte maturation and subsequent development of the embryo. PMID: 27917907
2. NLRP7 and KHDC3L localize to the cytoskeleton and are predominant at the cortical region in growing oocytes. PMID: 25358348
3. The absence of mutations in women with Androgenetic complete hydatidiform moles supports a role for NLRP7 or KHDC3L in Biparental hydatidiform moles only. PMID: 24105752
4. Investigation of the association between molar pregnancy and recurrent miscarriages regarding changes in the NLRP7 and C6orf221/KHDC3L genes. PMID: 23963444
5. Similarities between two recurrent hydatidiform moles (RHM) causative genes, KHDC3L and NLRP7, in their subcellular localization, parental contribution to the HM tissues caused by them, and the presence of several founder mutations. PMID: 23232697
6. these findings suggest that neither mutations nor variants in NLRP7 and C6orf221 are major factors contributing to the risk of these types of pregnancy complications. PMID: 23515668
7. Data indicate there was no KHDC3L mutation found in recurrent and sporadic hydatidiform moles Chinese patients. PMID: 24215781
8. Both NLRP7 and KHDC3L are involved in setting or maintaining the appropriate imprint within the ovum in women with familial recurrent hydatidiform mole. PMID: 23125094
9. Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. PMID: 21885028
10. This paper states that ECAT1 is not found in rodents. PMID: 17913455
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相關(guān)疾病：

Hydatidiform mole, recurrent, 2 (HYDM2)
亞細胞定位：

Cytoplasm, cell cortex. Nucleus. Mitochondrion. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome.
蛋白家族：

KHDC1 family
組織特異性：

Expression appears to be maximal in germinal vesicle oocytes, it tails off through metaphase II oocytes and is undetectable following the completion of the oocyte to embryo transition.
數(shù)據(jù)庫鏈接：

HGNC: 33699

OMIM: 611687

KEGG: hsa:154288

STRING: 9606.ENSP00000359392

UniGene: Hs.128326