BFSP1 cdna clone

BFSP1 cDNA Clone

Cat. Num. AAA1270309

• Gene Names: BFSP1; CP94; CP115; LIFL-H; CTRCT33
• Synonyms: BFSP1; BFSP1 cDNA Clone; BFSP1 cdna clone

• Sequence: atgtatgaaaatgagtgcgaatgtcaactcctgctaaaagaaatgcttgaacggcttaacaaggaagctgatgaagccttgctgcataacctacgccttcagctggaagcccaatttctgcaagatgatatcagtgcggcaaaggacaggcacaagaagaatcttctggaagttcagacctatatcagcatcctgcagcagatcatccacaccactcctccagcatccattgtgacgagtgggatgagggaggagaagctcctgacggagcgggaggtggccgccctgcggagtcagctggaggagggccgggaggtgctctcccacctgcaggcgcagagagtggagctgcaggcacagacaacaactctggaacaagctattaaaagtgcccatgagtgttatgacgatgagattcagctttataacgagcagattgagacactgcgcaaggagattgaggagacagagcgggtcctggagaagtcttcttacgactgccggcagctggcggtcgcccagcaaaccctgaagaatgagctggaccggtatcatcgtatcatcgagattgaaggcaacaggctgacctctgccttcattgaaactcccattcccctgttcacccagagccatggagtctctctcagcactggatccggtgggaaagatcttaccagagctctgcaggatataacagcagcaaaaccaagacaaaaagccctccccaagaatgttccaaggagaaaagagattataacaaaagacaaaaccaacggagctctggaagatgcaccattaaaaggtttggaagacacaaagctggtacaggtggtacttaaagaggaaagtgaatctaagtttgaatcagaaagtaaagaagtaagtcccctgacacaagaaggggctccagaggatgtgccagatggagggcagataagcaaaggctttgggaaactatacaggaaggtcaaggagaaagtgagaagccccaaagagcctgagacccccactgagctctacaccaaagagcggcacgtgctggtcacaggggatgccaattacgtggaccctagattctatgtctcctccatcacagctaaaggtggggtggctgtttctgttgcggaagactctgtgctttatgacggccaggtggagccctctcctgagtcacccaagccccctttagagaatgggcaggtgggtctgcaggagaaagaagatggacaaccaattgaccagcagcctatagacaaggagattgagccagatggtgcagagctggaaggccctgaagagaaacgtgagggtgaggagcgggacgaagagtccaggagaccctgtgccatggtcacacccggtgcagaggaaccgtctatacctgagcctccaaagcctgcggctgatcaggatggagctgaggtgcttgggactaggagcagaagcctgccagaaaaaggccctcccaaggctttggcctataagacagtggaagtggtggaatctatcgagaagatttccacggagagcattcagacatatgaagaaaccgctgtgatcgtggagaccatgattggaaagacaaagtcagacaagaagaaatcaggagagaagagctcttaa
• Sequence Length: 1623

• Vector: pENTR223.1 or pUC
• Clone Sequence Report: Provided with product shipment

NCBI and Uniprot Product Information

• NCBI GI #: 27371237
• NCBI GeneID: 631
• Molecular Weight: 58,569 Da
• NCBI Official Full Name: Homo sapiens beaded filament structural protein 1, filensin, mRNA
• NCBI Official Synonym Full Names: beaded filament structural protein 1
• NCBI Official Symbol: BFSP1
• NCBI Official Synonym Symbols: CP94; CP115; LIFL-H; CTRCT33
• NCBI Protein Information: filensin
• UniProt Protein Name: Filensin
• Protein Family: Filensin
• UniProt Gene Name: BFSP1
• UniProt Synonym Gene Names: CP115; LIFL-H
• UniProt Entry Name: BFSP1_HUMAN

NCBI Description

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Uniprot Description

BFSP1: Defects in BFSP1 are the cause of cataract cortical juvenile-onset (CCJO). A juvenile-onset cataract with opacities restricted to the cortex of the lens, not involving the nucleus. Belongs to the intermediate filament family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 20p12.1

Cellular Component: actin cytoskeleton; cytoplasm; mitochondrion; plasma membrane

Molecular Function: protein binding; structural constituent of cytoskeleton

Disease: Cataract 33