HuLPr26713

Uniprot ID

LYST_HUMAN

Uniprot Acc

Q99698;O43274;Q5T2U9;Q96TD7;Q96TD8;Q99709;Q9H133;

Protein name

Lysosomal-trafficking regulator

Comment

FUNCTION:May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.||SUBUNIT:Interacts with CENPJ, LIP8 and ZNF521.||SUBCELLULAR LOCATION:Cytoplasm (Potential).||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q99698-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=2; IsoId=Q99698-2; Sequence=VSP 006781, VSP 006782; Name=3; IsoId=Q99698-3; Sequence=VSP 006779, VSP 006780;||TISSUE SPECIFICITY:Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain.||DISEASE:Defects in LYST are the cause of Chediak-Higashi syndrome (CHS) [MIM:214500]. CHS is a rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendenc

Subcellular localization

Cytoplasm(Potential).

Gene name

lysosomal trafficking regulator

Related liver disease name

Hepatocellular carcinoma

Protein sequence

MSTDSNSLAREFLTDVNRLCNAVVQRVEAREEEEEETHMA TLGQYLVHGRGFLLLTKLNSIIDQALTCREELLTLLLSL LPLVWKIPVQEEKATDFNLPLSADIILTKEKNSSSQRST QEKLHLEGSALSSQVSAKVNVFRKSRRQRKITHRYSVRD ARKTQLSTSDSEANSDEKGIAMNKHRRPHLLHHFLTSFP KQDHPKAKLDRLATKEQTPPDAMALENSREIIPRQGSNT DILSEPAALSVISNMNNSPFDLCHVLLSLLEKVCKFDVT LNHNSPLAASVVPTLTEFLAGFGDCCSLSDNLESRVVSA GWTEEPVALIQRMLFRTVLHLLSVDVSTAEMMPENLRKN LTELLRAALKIRICLEKQPDPFAPRQKKTLQEVQEDFVF SKYRHRALLLPELLEGVLQILICCLQSAASNPFYFSQAM DLVQEFIQHHGFNLFETAVLQMEWLVLRDGVPPEASEHL KALINSVMKIMSTVKKVKSEQLHHSMCTRKRHRRCEYSH FMHHHRDLSGLLVSAFKNQVSKNPFEETADGDVYYPERC CCIAVCAHQCLRLLQQASLSSTCVQILSGVHNIGICCCM DPKSVIIPLLHAFKLPALKNFQQHILNILNKLILDQLGG AEISPKIKKAACNICTVDSDQLAQLEETLQGNLCDAELS SSLSSPSYRFQGILPSSGSEDLLWKWDALKAYQNFVFEE DRLHSIQIANHICNLIQKGNIVVQWKLYNYIFNPVLQRG VELAHHCQHLSVTSAQSHVCSHHNQCLPQDVLQIYVKTL PILLKSRVIRDLFLSCNGVSQIIELNCLNGIRSHSLKAF ETLIISLGEQQKDASVPDIDGIDIEQKELSSVHVGTSFH HQQAYSDSPQSLSKFYAGLKEAYPKRRKTVNQDVHINTI NLFLCVAFLCVSKEAESDRESANDSEDTSGYDSTASEPL SHMLPCISLESLVLPSPEHMHQAADIWSMCRWIYMLSSV FQKQFYRLGGFRVCHKLIFMIIQK

Database cross reference

RefSeq Protein accession:NP_000072
RefSeq Protein gi:54292123

HCC significant Proteins

Yes/No

Yes

Quality score

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;Human Liver Organelles;

GO:0005737;C:cytoplasm;IEA:UniProtKB-SubCell. GO:0015630;C:microtubule cytoskeleton;IDA:UniProtKB.

GO-F

GO:0005515;F:protein binding;IPI:UniProtKB.

GO-P

GO:0042742;P:defense response to bacterium;ISS:UniProtKB. GO:0042832;P:defense response to protozoan;ISS:UniProtKB. GO:0051607;P:defense response to virus;ISS:UniProtKB. GO:0032510;P:endosome to lysosome transport via multivesicular body sorting pathway