Product Details

Purity

>85% (SDS-PAGE)

Target Names

KHDC3L

Uniprot No.

Q587J8

Alternative Names

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

Species

Homo sapiens (Human)

Expression Region

1-217

Target Protein Sequence

MDAPRRFPTL VQLMQPKAMP VEVLGHLPKR FSWFHSEFLK NPKVVRLEVW LVEKIFGRGG ERIPHVQGMS QILIHVNRLD PNGEAEILVF GRPSYQEDTI KMIMNLADYH RQLQAKGSGK ALAQDVATQK AETQRSSIEV REAGTQRSVE VREAGTQRSV EVQEVGTQGS PVEVQEAGTQ QSLQAANKSG TQRSPEAASK AVTQRFREDA RDPVTRL

Protein Length

full length protein

Tag Info

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.

Form

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.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

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.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

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.

Lead Time

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.

Notes

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.

Target Background

Function

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.

Gene References into Functions

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
NLRP7 and KHDC3L localize to the cytoskeleton and are predominant at the cortical region in growing oocytes. PMID: 25358348
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
Investigation of the association between molar pregnancy and recurrent miscarriages regarding changes in the NLRP7 and C6orf221/KHDC3L genes. PMID: 23963444
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
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
Data indicate there was no KHDC3L mutation found in recurrent and sporadic hydatidiform moles Chinese patients. PMID: 24215781
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
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. PMID: 21885028
This paper states that ECAT1 is not found in rodents. PMID: 17913455

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Involvement in disease

Hydatidiform mole, recurrent, 2 (HYDM2)

Subcellular Location

Cytoplasm, cell cortex. Nucleus. Mitochondrion. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome.

Protein Families

KHDC1 family

Tissue Specificity

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.

Database Links

HGNC: 33699

OMIM: 611687

KEGG: hsa:154288

STRING: 9606.ENSP00000359392

UniGene: Hs.128326

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Recombinant Human KHDC3-like protein (KHDC3L)

Product Details

Customer Reviews and Q&A

Target Background

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