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Details of RareLSD ID 1010
RareLSD_Id1010
ENZYMEAcid phosphatase
GENEACP2
E.C.NUMBER3.1.3.2
FAMILYHistidine acid phosphatase
CYTOGENETICS11-p11.2
DISEASEACID PHOSPHATASE DEFICIENCY
SNPrs1050244,rs4647760, rs4647761,rs554676341,rs1000214685
DEPOSITNA
REF4139985 , 17357082 ,11801736
TEMP (in Celsius)37
pINA
pH4
Catalytic NucleophileHis108
Catalytic Acid/Base
Asp/Glu
Substratelysophosphatidic acid + H2O
Productmonoglyceride + phosphate
Structure(PDB/Phyre2_ID)d1nd6a
kM2.9
DRUG1-Butanol,1-Hexanol,1-Pentanol,Ethanol,Isobutanol,Isopropyl alcohol,Phosphate,Propyl alcohol
SEQ LENGTH423
AA SEQMAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGEDHA
MODIFICATIONN-linked Glycosylation:Asn92,,Asn133,Asn167,Asn177,Asn191,Asn267,Asn322,Asn33
INHIBITOR4'O(2fluoromalonyl)L-tyrosinecontaining peptides,Ca2+,La3+,plasmin,salicylate,phosphoL-tyrosine peptide analogues
ACTIVE SITE RESIDUEHis42,Asp287
DISULPHIDE BRIDGES*159-370,*212-310,*345-349
PSEUDOGENESNA
MISCELLANEOUSNA
PARALOGSACPP,ACP6,ACPT2
MECHANISMA phosphate monoester + H2O = an alcohol + phosphate
INHERITANCE PATTERNAutosomal recessive
ORGAN AFFECTEDNervous System
ENZYME LOCATIONNA
UniProt IDP11117