Recombinant Human DENN domain-containing protein 1A (DENND1A)

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中文名稱：

Recombinant Human DENN domain-containing protein 1A(DENND1A)
品名簡稱：

Recombinant Human DENND1A protein
貨號：

CSB-EP823472HU
說明書：

MSDS Datasheet
規格：

￥1344
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
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靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

DENND1A
Uniprot No.：

Q8TEH3
別名：

Connecdenn 1; Connecdenn; DEN1A_HUMAN; DENN domain-containing protein 1A; DENN/MADD domain containing 1A; dennd1a; FAM31A; FLJ21129; FLJ38464; KIAA1608; OTTHUMP00000022090; Protein FAM31A; RP11 230L22.3
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Isoform 2
來源：

E.coli
分子量：

79.4kDa
表達區域：

1-559aa
氨基酸序列

MGSRIKQNPETTFEVYVEVAYPRTGGTLSDPEVQRQFPEDYSDQEVLQTLTKFCFPFYVDSLTVSQVGQNFTFVLTDIDSKQRFGFCRLSSGAKSCFCILSYLPWFEVFYKLLNILADYTTKRQENQWNELLETLHKLPIPDPGVSVHLSVHSYFTVPDTRELPSIPENRNLTEYFVAVDVNNMLHLYASMLYERRILIICSKLSTLTACIHGSAAMLYPMYWQHVYIPVLPPHLLDYCCAPMPYLIGIHLSLMEKVRNMALDDVVILNVDTNTLETPFDDLQSLPNDVISSLKNRLKKVSTTTGDGVARAFLKAQAAFFGSYRNALKIEPEEPITFCEEAFVSHYRSGAMRQFLQNATQLQLFKQFIDGRLDLLNSGEGFSDVFEEEINMGEYAGSDKLYHQWLSTVRKGSGAILNTVKTKANPAMKTVYKFAKDHAKMGIKEVKNRLKQKDIAENGCAPTPEEQLPKTAPSPLVEAKDPKLREDRRPITVHFGQVRPPRPHVVKRPKSNIAVEGRRTSVPSPEQNTIATPATLHILQKSITHFAAKFPTRGWTSSSH
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 6xHis-SUMO-tagged
產品提供形式：

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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
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：

3-7 business days
注意事項：

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.

產品評價

靶點詳情

功能：

Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes. Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P.
基因功能參考文獻：
1. The association of DENND1A rs10818854 and rs10986105 variants with PCOS in Tunisian but not Bahraini women confirms the dependence of this association on the ethnic/racial origin of study subjects. PMID: 29325736
2. Genome-wide association studies have identified DENND1A as a candidate gene for polycystic ovary syndrome (PCOS). PCOS theca cells are shown to overexpress DENND1A splice variant 2 (V2), but not V1. Also, the genetic variation 330 bp upstream of exon 20A is not associated with VE variant expression. PMID: 27297658
3. DENND1A gene variant is likely to have influence on PCOS risk. PMID: 27488699
4. This meta-analysis suggested that rs2479106 and rs10818854 polymorphisms in the DENND1A gene were associated with increased risk of polycystic ovary syndrome PMID: 26757598
5. The guanine nucleotide exchange factor activity of connecdenn 1 and 2 are autoinhibited, and this is regulated by Akt activation downstream of insulin stimulation. PMID: 26055712
6. We demonstrated lack of association of DENND1A SNPs rs10818854, rs2479106, and rs10986105, previously associated with PCOS in Asians, with PCOS in Bahraini Arab women. PMID: 25626177
7. sequence analysis of the DENND1A gene of patients with PCOS did not identify alterations that alone could be responsible for the PCOS pathogenesis PMID: 24086769
8. DENND1A, plays a key role in the hyperandrogenemia associated with polycystic ovary syndrome. PMID: 24706793
9. THADA and DENND1A, carry risk alleles that are associated with endocrine and metabolic disturbances in PCOS patients of Han Chinese descent. PMID: 23208300
10. Our results suggest that SNPs rs2479106 in gene DENND1A and rs13405728 in gene LHCGR are associated with endometrioid adenocarcinoma. PMID: 22902918
11. The rs2479106 G allele was associated with decreased PCOS susceptibility PMID: 22504079
12. Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry. PMID: 22547425
13. At least two of the PCOS susceptibility loci identified in the Chinese PCOS GWAS (DENND1A and THADA) are also associated with PCOS in European derived populations. PMID: 22180642
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相關疾病：

Genetic variants in DENND1A may play a role in susceptibility to polycystic ovary syndrome (PCOS), the most common endocrine disease among premenopausal women. PCOS is a complex disorder characterized by infertility, hirsutism, obesity, various menstrual disturbances, and enlarged ovaries studded with atretic follicles.
亞細胞定位：

Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein. Cell junction, synapse, presynaptic cell membrane.
數據庫鏈接：

HGNC: 29324

OMIM: 613633

KEGG: hsa:57706

STRING: 9606.ENSP00000362727

UniGene: Hs.744995