SAR1B cdna clone

SAR1B

Cat. Num. AAA200852

• Gene Names: SAR1B; ANDD; CMRD; GTBPB; SARA2
• Synonyms: SAR1B; ANDD; CMRD; GTBPB; SARA2; SAR1B cdna clone

• Form/Format: Lyophilized
• Sequence: Nucleotide Sequence: ATGTCCTTCATATTTGATTGGATTTACAGTGGTTTCAGCAGTGTGCTACAGTTTTTAGGATTATATAAGAAAACTGGTAAACTGGTATTTCTTGGATTGGATAATGCAGGAAAAACAACATTGCTACACATGCTAAAAGATGACAGACTTGGACAACATGTCCCAACATTACATCCCACTTCCGAAGAACTGACCATTGCTGGCATGACGTTTACAACTTTTGATCTGGGTGGACATGTTCAAGCTCGAAGAGTGTGGAAAAACTACCTTCCTGCTATCAATGGCATTGTATTTCTGGTGGATTGTGCAGACCACGAAAGGCTGTTAGAGTCAAAAGAAGAACTTGATTCACTAATGACAGATGAAACCATTGCTAATGTGCCTATACTGATTCTTGGGAATAAGATCGACAGACCTGAAGCCATCAGTGAAGAGAGGTTGCGAGAGATGTTTGGTTTATATGGTCAGACAACAGGAAAGGGGAGTATATCTCTGAAAGAACTGAATGCCCGACCCTTAGAAGTTTTCATGTGTAGTGTGCTCAAAAGACAAGGTTACGGAGAAGGCTTCCGCTGGATGGCACAGTACATTGATTAA; ; Translation Sequence: MSFIFDWIYS GFSSVLQFLG LYKKTGKLVF LGLDNAGKTT LLHMLKDDRL GQHVPTLHPT SEELTIAGMT FTTFDLGGHV QARRVWKNYL PAINGIVFLV DCADHERLLE SKEELDSLMT DETIANVPIL ILGNKIDRPE AISEERLREM FGLYGQTTGK GSISLKELNA RPLEVFMCSV LKRQGYGEGF RWMAQYID
• Sequence Length: 198

• Species: Human
• Chromosome Location: 5q31.1
• OMIM Reference Number: 607690
• cDNA Size: 597bp
• Vector Description: This shuttle vector contains the complete ORF. It is inseted BamH I to Xho I. The gene insert contains multiple cloning sites which can be used to easily cut and transfer the gene and recombination site into your expression vector.
• Vector: (puc19-derived cloning vector)
• Preparation Before Usage: 1. Centrifuge at 7000rpm for 1 minute. 2. Carefully open the vial and add 100ul of sterile water to dissolve the DNA. Each tube contains approximately 10ug of lyophilized plasmid.
• Preparation and Storage: Store the plasmid at -20 degree C.

Related Product Information for SAR1B cdna clone

SAR1B encodes a small GTPase that acts as a homodimer. It is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. Two transcript variants encoding the same protein have been found for this gene.

Product Categories/Family for SAR1B cdna clone

Signal Transduction

NCBI and Uniprot Product Information

• NCBI GI #: 7705827
• NCBI GeneID: 51128
• NCBI Accession #: NP_057187.1
• NCBI GenBank Nucleotide #: NM_016103.3
• UniProt Accession #: Q9Y6B6
• NCBI Official Full Name: GTP-binding protein SAR1b
• NCBI Official Synonym Full Names: secretion associated Ras related GTPase 1B
• NCBI Official Symbol: SAR1B
• NCBI Official Synonym Symbols: ANDD; CMRD; GTBPB; SARA2
• NCBI Protein Information: GTP-binding protein SAR1b
• UniProt Protein Name: GTP-binding protein SAR1b
• Protein Family: GTP-binding protein
• UniProt Gene Name: SAR1B
• UniProt Synonym Gene Names: SARA2; SARB; GTBPB
• UniProt Entry Name: SAR1B_HUMAN

NCBI Description

The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

Uniprot Description

SAR1B: Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex. Defects in SAR1B are the cause of chylomicron retention disease (CMRD); also known as Anderson disease (ANDD). CMRD is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets. Belongs to the small GTPase superfamily. SAR1 family.

Protein type: G protein, monomeric; G protein; G protein, monomeric, SAR1; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 5q31.1

Cellular Component: endoplasmic reticulum membrane; cytosol

Molecular Function: GTPase activity; GTP binding; metal ion binding

Biological Process: COPII coating of Golgi vesicle; intracellular protein transport; ER to Golgi vesicle-mediated transport; antigen processing and presentation of peptide antigen via MHC class I; cellular protein metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class II; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification

Disease: Chylomicron Retention Disease