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This antibody is specific to OCRL.
Immunogen sequence: VDERRYRKV FEDSVRIMDR MENDFLPSLE LSRREFVFEN VKFRQLQKEK FQISNNGQVP CHFSFIPKLN DSQYCKPWLR AEPFEGYLEP NETVDISLDV YVSKDSVTIL NSGEDKIEDI LVLHLDRGKD YFLTISGNYL PSCFGTSLEA LCRMKRPIRE VPVTKLIDLE KSLLQMVPLD EGASERPLQV PKEIWLLVDH LFKYACHQED LFQTPGMQEE LQQIIDCLDT SIPETIPGSN HSVAEALLIF LEALPEPVIC YELYQRCLDS AYDPRICRQV ISQLPRCHRN VFRYLMAFLR ELLKFSEYNS VNANMIATLF TSLLLRPPPN LMARQTPSDR QRAIQFLLGF LLGSEED (538-893 aa encoded by BC094726 )
The inositol polyphosphate 5-phosphatases selectively remove the phosphate from the 5-position of various phosphatidylinositols, which generate second messengers in response to extracellular signals. OCRL1 is a type II 5-phosphatase that is mutated in the oculocerebrorenal syndrome of Lowe (OCRL). OCRL is a rare X-linked disorder that is characterized in part by congenital cataracts, mental retardation, muscular hypotonia and renal tubular dysfunction. OCRL1 has a high affinity for phosphatidylinositol 4,5-bisphosphate as well as inositol 1,4,5-trisphosphate and inositol 1,3,4,5-tetrakisphosphate as substrates. OCRL1 is localized to the Golgi complex and is thought to be part of the trans-Golgi network (TGN), which suggests that OCRL1 plays a role in protein sorting and trafficking within the cell.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Inositol polyphosphate 5-phosphatase OCRL; Inositol polyphosphate 5-phosphatase OCRL-1; Lowe oculocerebrorenal syndrome protein; OCRL-1; oculocerebrorenal syndrome of Lowe; Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase
Gene Aliases: 9530014D17Rik; BB143339; INPP5F; LOCR; NPHL2; OCRL; OCRL-1; OCRL1
UniProt ID: (Human) Q01968, (Mouse) Q6NVF0
Entrez Gene ID: (Human) 4952, (Rat) 317576, (Mouse) 320634
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