Recombinant Human Anosmin-1 (ANOS1) Protein (His)

Beta LifeScience SKU/CAT #: BLC-07098P
Greater than 85% as determined by SDS-PAGE.
Greater than 85% as determined by SDS-PAGE.

Recombinant Human Anosmin-1 (ANOS1) Protein (His)

Beta LifeScience SKU/CAT #: BLC-07098P
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Product Overview

Description Recombinant Human Anosmin-1 (ANOS1) Protein (His) is produced by our E.coli expression system. This is a protein fragment.
Purity Greater than 85% as determined by SDS-PAGE.
Uniprotkb P23352
Target Symbol ANOS1
Species Homo sapiens (Human)
Expression System E.coli
Tag N-6His
Target Protein Sequence WGQTRLKSAKVSLHFTSTHATNNKEQLVKTRKGGIQTQLPFQRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSGMTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIVQDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPS
Expression Range 380-614aa
Protein Length Partial
Mol. Weight 32.3 kDa
Research Area Others
Form Liquid or Lyophilized powder
Buffer Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage 1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex. Chemoattractant for fetal olfactory epithelial cells.
Subcellular Location Cell membrane; Peripheral membrane protein. Secreted. Note=Proteolytic cleavage may release it from the cell surface into the extracellular space.
Database References

HGNC: 6211

OMIM: 300836

KEGG: hsa:3730

STRING: 9606.ENSP00000262648

UniGene: PMID: 29222041

  • A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T, in 2 brothers who were hemizygous, and their mother, who was heterozygous for the variant. PMID: 29211946
  • Hemizygous mutations were identified in three Kallman syndrome cases: a novel splice acceptor site mutation leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis. PMID: 28122887
  • ANOS1 expression shows continuous activation during the progression of colorectal cancer, its expression is closely related to the overall survival rate of patients. PMID: 28854193
  • The prevalence of ANOS1 gene mutations is higher in familial Chinese Kallmann Syndrome patients. PMID: 28780519
  • This study presents the first experimental evidence indicating a molecular interaction between anosmin 1 and PKR2. A truncated anosmin 1 protein comprising the first three domains of the protein interacts with the second extracellular loop of PKR2, involved in PK2 binding. PMID: 27184500
  • Anosmin-1 over-expression regulates oligodendrocyte precursor cell proliferation, migration and myelin sheath thickness. Data confirmed the involvement of (A1) works as a chemotropic cue contributing to axonal outgrowth and in oligodendrogliogenesis and its relevance for myelination. PMID: 25662897
  • two novel variants, KAL1 (c.146G>T (p.Cys49Phe)) and mitochondrial tRNAcys (m.5800A>G), were identified in a large Han Chinese family with inherited Kallmann syndrome; although two variants can't exert obvious effects on the migration of GnRH neurons, they show a synergistic effect, which can account for the occurrence of the disorder in this family PMID: 26278626
  • FGF receptor 1-mediated anosmin-1 activity plays a crucial role in the continuous remodelling of the adult olfactory bulb. PMID: 25300351
  • Study reports 2 new mutations in KAL1 gene from patients with septo-optic dysplasia proven to be loss-of-function. PMID: 26375424
  • data indicated KAL1 plays potential suppressive role on OSCC initiation and progression. KAL1 gene may serve as adjuvant biomarker for identification of pathological grade. PMID: 25060050
  • Kallmann syndrome with FGFR1 and KAL1 mutations was detected during fetal life PMID: 26051373
  • Our analyses show that the two phenotypes in our patient are due to independent genetic defects: a genomic rearrangement involving the KAL1 gene and a point mutation of the steryl-sulfatase gene. PMID: 25726327
  • Results indicated that KAL1 may act as a putative tumor suppressor in hepatocellular carcinoma (HCC) and is inactivated by promoter hypermethylation. KAL1 may serve as a biomarker of malignant phenotype of HCC. PMID: 25892360
  • No abnormalities were found in the patient group for the PROKR2 and GNRH1genes. In addition, no genomic rearrangements were identified in the healthy control individuals for the described genes PMID: 24002956
  • Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism: KAL1, FGFR1, GNRHR, and CHD7 PMID: 24732674
  • anosmin-1 has been identified in other pathological scenarios both within (multiple sclerosis) and outside (cancer, atopic dermatitis) the central nerve system. PMID: 25300141
  • Anosmin-1 can facilitate tumor cell proliferation, migration, invasin, and survival. PMID: 24189182
  • Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements. Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. PMID: 24232061
  • These results indicate that intragenic multiexon deletions are one of the most frequent KAL1 abnormalities, which can be more accurately detected by multiplex ligation-dependent probe amplification. PMID: 23721716
  • Increased presence of anosmin-1 in TGF-beta treated human retinal pigment epithelial cells cells, with distinct localization at the intercellular junctions. PMID: 23357298
  • Mutation analysis reveals a missense mutation of KAL1 in two brothers with Kallmann syndrome, while their mother is heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013. PMID: 23410897
  • genetic association studies in population in Massachusetts: Data suggest that clinical features in Kallmann syndrome (KS) are highly associated with genetic causes: synkinesia is associated with genetic variations/mutations in KAL1. PMID: 23533228
  • Peculiar prolactinomas in patients with pituitary developmental Kal 2 gene mutations PMID: 22801565
  • we demonstrate that missense mutations reported in patients with KS, C172R and N267K did not alter or substantially reduce, respectively, the binding to FGFR1 PMID: 23189990
  • A central role of KAL-1, in GnRH neuron ontogeny - specifically in GnRH neuronal migration from the cribriform plate area into the brain. PMID: 21497178
  • we report the case of a deletion of exons 4 to 14 (c.469-?_6314+?del) within the KAL1 gene in two related patients and in three female carriers among the members of the presented family. PMID: 21717404
  • The results of this study proposed that FGF-2 and Anosmin-1 are markers for the histopathological type and the level of inflammation of multiple sclerosis lesions PMID: 22016523
  • Comprehensive mutation analysis of all 7 known KS genes (KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, and WDR11) in 30 well-phenotyped probands revealed mutations in KAL1 (3 men) and FGFR1 (all 5 women vs. 4/25 men), but not in other genes in Finland patients. PMID: 21682876
  • Two new mutations were detected in KAL1 from male patients with idiopathic hypogonadotropic hypogonadism. PMID: 21351529
  • Role of the KAL1 protein missense mutations in Kallman syndrome and in olfactory bulb development. PMID: 20530987
  • Mutations of KAL1 underlie an autosomal dominant form of Kallmann syndrome. PMID: 20362962
  • Anosmin-1 produced by epidermal keratinocytes in response to calcium concentrations or cytokines may modulate epidermal nerve density in atopic dermatitis. PMID: 20219326
  • KAL1 gene expression plays an important role in cancer metastasis and protection from apoptosis. PMID: 19844165
  • report describes 2 intragenic deletions of KAL-1 in 2 Kallmann syndrome (KS) patients & suggests KAL-1 deletion may be more prevalent in KS patients with other congenital organ abnormalities than those described previously from Northwestern China PMID: 19734936
  • Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. PMID: 12050219
  • AL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling PMID: 12627230
  • six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases of Kallmann syndrome PMID: 15001591
  • it is unlikely that KAL gene mutations are a clinically significant cause of sporadic GnRH deficiency in female patients PMID: 15004876
  • anosmin-1 may modulate the catalytic activity of uPA and its signalling pathway, whereas HS determines cell surface localization of the anosmin-1-uPA complex PMID: 15324302
  • a direct action of anosmin-1 on the migratory activity of GnRH neurons is shown PMID: 15471890
  • anosmin-1 is an isoform-specific co-ligand modulator of FGFR signaling that amplifies and specifies FGFR1 signaling responses during human nervous system development and defines the link between autosomal and X-linked Kallmann's syndrome PMID: 15548653
  • KAL1 gene has a closely related nonfunctional pseudogene on the Y chromosome PMID: 15636431
  • analysis of the biological function of anosmin-1 and its ability to interact with its three macromolecular ligands PMID: 15949815
  • Data suggest that the relative concentrations of Anosmin-1 and FGF-2 modulate the migration of oligodendrocyte precursors during development through their interaction with FGFR1. PMID: 16876430
  • The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic Kallmann syndrome. PMID: 17603054
  • KAL1 mutations result in a more severe reproductive phenotype than FGFR1/KAL2 mutations. PMID: 18160472
  • 12% of Kallman syndrome males have KAL1 deletions, but intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF genes are uncommon in Idiopathic hypogonadotropic hypogonadism/Kallman syndrome. PMID: 18463157
  • binding of anosmin-1 to FGFR1 and heparin can play a dual role in assembly and activity of the ternary FGFR1.FGF2.heparin complex. PMID: 19696444
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    Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

    Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

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