NOGGIN active protein

Human NOGGIN

Cat. Num. AAA691958

• Gene Names: NOG; SYM1; SYNS1
• Reactivity: Human
• Purity: > 95% by SDS-PAGE and HPLC analysis
• Synonyms: NOGGIN; Human NOGGIN; Recombinant Human NOGGIN; NOGGIN active protein

• Host: HEK 293 Cells
• Reactivity: Human
• Purity/Purification: > 95% by SDS-PAGE and HPLC analysis
• Form/Format: Lyophilized
• Sequence: QHYLHIRPAP SDNLPLVDLI EHPDPIFDPK EKDLNETLLR SLLGGH YDPG FMATSPPEDR PGGGGGAAGG AEDLAELDQL LRQRPSGAMP S EIKGLEFSE GLAQGKKQRL SKKLRRKLQM WLWSQTFCPV LYAWNDL GSR FWPRYVKVGS CFSKRSCSVP EGMVCKPSKS VHLTVLRWRC QR RGGQRCGW IPIQYPIISE CKCSC
• Sequence Length: 232

• Endotoxin Level: < 0.1 ng per ug of NOGGIN
• Biological Activity: Determined by its ability to inhibit 5.0 ng/ml of BMP-4 induced alkaline phosphatase production by ATDC chondrogenic cells. The expected ED50 for this effect is 2.0-3.0 ng/ml of Noggin.

Related Product Information for NOGGIN active protein

Noggin belongs to a group of diffusible proteins which bind to ligands of the TGF-beta family and regulate their activity by inhibiting their access to signaling receptors. Noggin was originally identified as a BMP-4 antagonist whose action is critical for proper formation of the head and other dorsal structures. Consequently, Noggin has been shown to modulate the activities of other BMPs including BMP-2,-7,-13, and -14. Targeted deletion of Noggin in mice results in prenatal death and recessive phenotype displaying a severely malformed skeletal system. Conversely, transgenic mice over-expressing Noggin in mature osteoblasts display impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis. Recombinant human Noggin is a 46.2 kDa non-disulfide-linked homodimer consisting of a total of 206 amino acid residues.

Product Categories/Family for NOGGIN active protein

Cytokines & Growth Factors

NCBI and Uniprot Product Information

• NCBI GI #: 4885523
• NCBI GeneID: 9241
• NCBI Accession #: NP_005441.1
• NCBI GenBank Nucleotide #: NM_005450.4
• UniProt Accession #: Q13253
• Molecular Weight: 23.1 kDa
• NCBI Official Full Name: noggin
• NCBI Official Synonym Full Names: noggin
• NCBI Official Symbol: NOG
• NCBI Official Synonym Symbols: SYM1; SYNS1
• NCBI Protein Information: noggin; symphalangism 1 (proximal)
• UniProt Protein Name: Noggin
• Protein Family: Noggin
• UniProt Gene Name: NOG
• UniProt Entry Name: NOGG_HUMAN

NCBI Description

The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008]

Uniprot Description

Function: Essential for cartilage morphogenesis and joint formation. Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Ref.3

Subunit structure: Homodimer. Ref.3

Subcellular location: Secreted.

Involvement in disease: Symphalangism, proximal 1A (SYM1A) [MIM:185800]: A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.5 Ref.8 Ref.9Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.11Tarsal-carpal coalition syndrome (TCC) [MIM:186570]: Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6Stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]: Congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7Brachydactyly B2 (BDB2) [MIM:611377]: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities: Belongs to the noggin family.