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P19835 Proteins with OtherRepeats Repeats
Uniprot ID: P19835
Protein name : Bile salt-activated lipase
Gene : CEL BAL
Protein Families : Type-B carboxylesterase/lipase family
Squence Length : 753
Sequence
>P19835 754 MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLGDSVDIFKGIPFAAPTKALENPQPHPGWQGTLKAKNFKKRCLQATITQDSTYGDEDCLYLNIWVPQGRKQVSRDLPVMIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVTFNYRVGPLGFLSTGDANLPGNYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGASVSLQTLSPYNKGLIRRAISQSGVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQCLKVTDPRALTLAYKVPLAGLEYPMLHYVGFVPVIDGDFIPADPINLYANAADIDYIAGTNNMDGHIFASIDMPAINKGNKKVTEEDFYKLVSEFTITKGLRGAKTTFDVYTESWAQDPSQENKKKTVVDFETDVLFLVPTEIALAQHRANAKSAKTYAYLFSHPSRMPVYPKWVGADHADDIQYVFGKPFATPTGYRPQDRTVSKAMIAYWTNFAKTGDPNMGDSAVPTHWEPYTTENSGYLEITKKMGSSSMKRSLRTNFLRYWTLTYLALPTVTDQEATPVPPTGDSEATPVPPTGDSETAPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDAGPPPVPPTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDSGAPPVPPTGDSEAAPVPPTDDSKEAQMPAVIRF
Repeat regions
REPEAT 559 569 1 REPEAT 570 580 2 REPEAT 581 591 3 REPEAT 592 602 4 REPEAT 603 613 5 REPEAT 614 624 6 REPEAT 625 635 7 REPEAT 636 646 8 REPEAT 647 657 9 REPEAT 658 668 10 REPEAT 669 679 11 REPEAT 680 690 12 REPEAT 691 701 13 REPEAT 702 712 14 REPEAT 713 723 15 REPEAT 724 734 16 REPEAT 735 745 17
Sequence region of repeats
559- 569 PPTGDSEATPV 570- 580 PPTGDSETAPV 581- 591 PPTGDSGAPPV 592- 602 PPTGDSGAPPV 603- 613 PPTGDSGAPPV 614- 624 PPTGDSGAPPV 625- 635 PPTGDSGAPPV 636- 646 PPTGDSGAPPV 647- 657 PPTGDSGAPPV 658- 668 PPTGDSGAPPV 669- 679 PPTGDAGPPPV 680- 690 PPTGDSGAPPV 691- 701 PPTGDSGAPPV 702- 712 TPTGDSETAPV 713- 723 PPTGDSGAPPV 724- 734 PPTGDSEAAPV 735- 745 PPTDDSKEAQM
Function
Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides
Active Site
ACT_SITE 214 214 Acyl-ester intermediate. ACT_SITE 340 340 Charge relay system. ACT_SITE 455 455 Charge relay system
Mutation
455 455 H->Q: Abolishes lipase activity
Disease
"DISEASE: Maturity-onset diabetes of the young 8 with exocrine dysfunction (MODY8) [MIM:609812]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease Note=The disease is caused by mutations affecting the gene represented in this entry The disease can be caused by frameshift deletions in the variable number of tandem repeats (VNTR)-containing exon 11 of the CEL gene (PubMed:16369531)"