Recombinant Human DNA-binding protein SMUBP-2 (IGHMBP2), partial

中文名稱：

人IGHMBP2重組蛋白
貨號：

CSB-YP011172HU
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人IGHMBP2重組蛋白
貨號：

CSB-EP011172HU
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人IGHMBP2重組蛋白
貨號：

CSB-EP011172HU-B
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IGHMBP2重組蛋白
貨號：

CSB-BP011172HU
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人IGHMBP2重組蛋白
貨號：

CSB-MP011172HU
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

IGHMBP2
Uniprot No.：

P38935
別名：

AEP; Antifreeze enhancer binding protein; ATP-dependent helicase IGHMBP2; Cardiac transcription factor 1; Cardiac transcription factor1; CATF 1; CATF1; CMT2S; DNA-binding protein SMUBP-2; GF-1; Glial factor 1; HCSA; HMN 6; HMN6; IGHMBP 2; Ighmbp2; Immunoglobulin mu binding protein 2; Immunoglobulin mu binding protein2; Immunoglobulin mu-binding protein 2; Immunoglobulin S mu binding protein 2; Immunoglobulin S mu binding protein2; RIPE3 b1; RIPE3b 1; RIPE3b1; SMARD 1; SMARD1; SMBP2_HUMAN; SMUBP 2; SMUBP2; ZFAND7; zinc finger, AN1 type domain 7
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

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：

5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation. DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV.
基因功能參考文獻：
1. detected IGHMBP2 mutations in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients; four mutations, c.1489G > A, c.2356delG, c.2597_2598delAG and c.1061-2A > G, are reported for the first time PMID: 28065684
2. We present the original report of Charcot-Marie-Tooth disease (CMT) type 2S in Japan, and illustrate that recessive IGHMBP2 variants account for ~1.6% of axonal CMT in our cohort. PMID: 28202949
3. Case report and review of 20 reported spinal muscular atrophy with respiratory distress type I cases that have no respiratory involvement or have late onsets, propose that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity PMID: 26922252
4. demonstration of 2 additional mutations in the IGHMBP2 gene associated with hereditary motor and sensory neuropathy PMID: 26136520
5. The IGHMBP2 gene was not found to be a major causative gene linked to Han Chinese non-5q-spinal muscular atrophy patients. PMID: 24022109
6. Spinal muscular atrophy with respiratory distress type 1 that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin mu-binding protein. PMID: 25248952
7. Mutations in IGHMBP2 were identified in patients presenting with axonal sensorimotor neuropathy. PMID: 25568292
8. IGHMBP2 overexpression may promote invasion and migration of esophageal squamous carcinoma cells through down-regulation of E-cadherin. PMID: 25881701
9. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. PMID: 25439726
10. 6 novel IGHMBP2 mutations were identified in 5 SMARD1 patietns PMID: 24388491
11. Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy. PMID: 22791546
12. Results reveal the critical role of the R3H domain in modulation of enzymatic and RNA-binding activities of Ighmbp2. PMID: 22965130
13. report the NMR structure of the Smubp2-R3H in complex with deoxyguanosine 5'-monophosphate (dGMP) mimicking the 5'-end of single-stranded DNA PMID: 22999958
14. mutations in the IGHMBP2 gene of patients with more favorable outcomes retained residual enzymatic activity. PMID: 22157136
15. Variation in IGHMBP2 does not confer significant susceptibility to IgA nephropathy in UK Caucasian or Chinese Han populations. PMID: 20031928
16. Taken together, these observations suggest that the duplicated GGAA motifs are essential for the IGHMBP2 promoter activity and its positive response to TPA in HL-60 cells. PMID: 20441787
17. NMR solution structure of the R3H domain from human Smubp-2 PMID: 12547203
18. association between IgA nephropathy and an SNP located in the gene encoding immunoglobulin micro-binding protein 2 (IGHMBP2) at chromosome 11q13.2-q13.4 PMID: 15599641
19. IGHMBP2 may not have a role in development of breast cancer in female smokers PMID: 16752224
20. 2 novel heterozygous IGHMBP2 mutations in two cases of SMARD1 were identified: 1061G>A, amino acid substitution G354S, exon 7; 129delC, frameshift mutation, exon 2. PMID: 16964485
21. Juvenile SMARD1 with onset in early childhood can also be caused by mutations of IGHMBP2.5 In accordance with the known phenotypical overlapping between SOD1-associated fALS and SMA, we investigated a selected group of eight sporadic ALS patients. PMID: 18187479
22. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. PMID: 18802676
23. SMARD1 phenotype should be considered in cases of atypical spinal muscular atrophy even in the absence of overt diaphragmatic weakness. PMID: 19157874
24. IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in distal spinal muscular atrophy type 1 patients. PMID: 19158098
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相關(guān)疾病：

Neuronopathy, distal hereditary motor, 6 (HMN6); Charcot-Marie-Tooth disease 2S (CMT2S)
亞細胞定位：

Nucleus. Cytoplasm. Cell projection, axon.
蛋白家族：

DNA2/NAM7 helicase family
組織特異性：

Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts.
數(shù)據(jù)庫鏈接：

HGNC: 5542

OMIM: 600502

KEGG: hsa:3508

STRING: 9606.ENSP00000255078

UniGene: Hs.503048