GBA3_HUMAN   Q9H227


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UniProt:Q9H227

Recommended name:Cytosolic beta-glucosidase

EC number:EC:3.2.1.21

Alternative names:(Cytosolic beta-glucosidase-like protein 1) (Cytosolic glycosylceramidase) (Cytosolic GCase) (Glucosidase beta acid 3) (Glucosylceramidase beta 3) (Klotho-related protein) (KLrP)

Cleaved into:

GeneID:57733

Gene names  (primary ):GBA3

Gene names  (synonym ):CBG CBGL1

Gene names  (ORF ):

Length:469

Mass:53696

Sequence:MAFPAGFGWAAATAAYQVEGGWDADGKGPCVWDTFTHQGGERVFKNQTGDVACGSYTLWEEDLKCIKQLGLTHYRFSLSWSRLLPDGTTGFINQKGIDYYNKIIDDLLKNGVTPIVTLYHFDLPQTLEDQGGWLSEAIIESFDKYAQFCFSTFGDRVKQWITINEANVLSVMSYDLGMFPPGIPHFGTGGYQAAHNLIKAHARSWHSYDSLFRKKQKGMVSLSLFAVWLEPADPNSVSDQEAAKRAITFHLDLFAKPIFIDGDYPEVVKSQIASMSQKQGYPSSRLPEFTEEEKKMIKGTADFFAVQYYTTRLIKYQENKKGELGILQDAEIEFFPDPSWKNVDWIYVVPWGVCKLLKYIKDTYNNPVIYITENGFPQSDPAPLDDTQRWEYFRQTFQELFKAIQLDKVNLQVYCAWSLLDNFEWNQGYSSRFGLFHVDFEDPARPRVPYTSAKEYAKIIRNNGLEAHL

Tissue specificity:Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas. {ECO:0000269|PubMed:11043382, ECO:0000269|PubMed:12594539}.

Induction:

Developmental stage:

Protein families:Glycosyl hydrolase 1 family, Klotho subfamily


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