SPG3A Recombinant Protein | ATL1 recombinant protein

SPG3A Protein, Human, Recombinant (GST Tag)

Cat. Num. AAA8120332

• Gene Names: ATL1; FSP1; GBP3; SPG3; HSN1D; SPG3A; AD-FSP; atlastin1
• Purity: >80% as determined by SDS-PAGE
• Synonyms: SPG3A; SPG3A Protein; Human; Recombinant (GST Tag); Human ATL1/SPG3A/Atlastin-1 Protein (GST Tag); AD-FSP Protein; atlastin1 Protein; FSP1 Protein; GBP3 Protein; HSN1D Protein; SPG3 Protein; atlastin GTPase 1; ATL1 recombinant protein

• Host: Baculovirus-Insect Cells
• Purity/Purification: >80% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile 50mM Tris, 100mM NaCl, 0.5mM PMSF, 0.5mM EDTA, 0.5mM GSH, pH8.0. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy
• Sequence: Met1-Thr447

• Species: Human
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: Met
• Tag: N-GST
• Protein Construction: A DNA sequence encoding the human SPG3A (NP_056999.2)(Met 1-Thr 447) was fused with the GST tag at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

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Related Product Information for ATL1 recombinant protein

Background: Atlastin-1, also known as Spastic paraplegia 3 protein A, Guanine nucleotide-binding protein 3, GTP-binding protein 3, GBP3, ATL1 and SPG3A, is a multi-pass membrane protein which belongs to theGBP family and atlastin subfamily. ATL1/SPG3A is expressed predominantly in the adult and fetal central nervous system. Expression of ATL1/SPG3A in adult brain is at least 5-fold higher than in other tissues. ATL1/SPG3A is detected predominantly in pyramidal neurons in the cerebral cortex and the hippocampus of the brain. ATL1/SPG3A is also expressed in upper and lower motor neurons (at protein level). A distinguishing feature of ATL1/SPG3A is its frequent early onset, raising the possibility that developmental abnormalities may be involved in its pathogenesis. Missense SPG3A mutant atlastin-1 proteins have impaired GTPase activity and may act in a dominant-negative, loss-of-function manner by forming mixed oligomers with wild-type atlastin-1. Defects in ATL1/SPG3A are the cause of spastic paraplegia autosomal dominant type 3 (SPG3), also known as Strumpell-Lorrain syndrome. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.

References

Zhao X., et al.,(2001), Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat. Genet. 29:326-331.Luan Z., et al., (2002), A novel GTP-binding protein hGBP3 interacts with NIK/HGK.FEBS Lett. 530:233-238.Ota T., et al.,(2004), Complete sequencing and characterization of 21,243 full-length human cDNAs.Nat. Genet. 36:40-45.

NCBI and Uniprot Product Information

• NCBI GI #: 19923445
• NCBI GeneID: 51062
• NCBI Accession #: NP_056999.2
• NCBI GenBank Nucleotide #: NM_015915.4
• UniProt Accession #: Q8WXF7; O95890; Q69YH7; Q96FK0; A6NND5; A8K2C0; G5E9T1
• Molecular Weight: 63,544 Da
• NCBI Official Full Name: atlastin-1 isoform a
• NCBI Official Synonym Full Names: atlastin GTPase 1
• NCBI Official Symbol: ATL1
• NCBI Official Synonym Symbols: FSP1; GBP3; SPG3; HSN1D; SPG3A; AD-FSP; atlastin1
• NCBI Protein Information: atlastin-1; GBP-3; hGBP3; GTP-binding protein 3; guanylate-binding protein 3; spastic paraplegia 3 protein A; brain-specific GTP-binding protein; guanine nucleotide-binding protein 3
• UniProt Protein Name: Atlastin-1
• Protein Family: Atlastin
• UniProt Gene Name: ATL1
• UniProt Synonym Gene Names: GBP3; SPG3A; GBP-3; hGBP3

Uniprot Description

atlastin: GTPase tethering membranes through formation of trans- homooligomer and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development. Defects in ATL1 are the cause of spastic paraplegia autosomal dominant type 3 (SPG3); also known as Strumpell-Lorrain syndrome. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Defects in ATL1 are the cause of hereditary sensory neuropathy type 1D (HSN1D). HSN1D is a disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement. Belongs to the GBP family. Atlastin subfamily.

Protein type: EC 3.6.5.-; Membrane protein, integral; Membrane protein, multi-pass; Vesicle

Chromosomal Location of Human Ortholog: 14q22.1

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi cis cisterna; integral to membrane

Molecular Function: GTP binding; GTPase activity; identical protein binding; protein binding

Biological Process: axonogenesis; endoplasmic reticulum organization and biogenesis; protein homooligomerization

Disease: Neuropathy, Hereditary Sensory, Type Id; Spastic Paraplegia 3, Autosomal Dominant