Product Overview
Description
CLPP-00150460 is recombinant human CHMP1A protein
Applications
Mass Spectrometry, SDS-PAGE
Protein Length
Full length protein
Nature
Recombinant Protein
Sequence
MGSSHHHHHHSSGLVPRGSHMGSMDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGVNWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVDSLIMQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN
Sequence Similarities
Belongs to the SNF7 family.
Predicted Molecular Weight
24 kDa including tags
Target Information
Alternative Names
Charged multivesicular body protein 1a; CHM1A_HUMAN; CHMP1a; Chromatin modifying protein 1a; Chromatin-modifying protein 1a; hVps46 1; hVps46-1; KIAA0047; Metalloprotease 1; PCOLN3; Procollagen (type III) N endopeptidase; PRSM1; Vacuolar protein sorting 46 1; Vacuolar protein sorting-associated protein 46-1; Vps46 1; Vps46-1
Protein Function
Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing.
Tissue Specificity
Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63.
Involvement in Disease
Pontocerebellar hypoplasia 8 (PCH8): An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum. The disease is caused by variants affecting the gene represented in this entry.
Shipping & Handling
Constituents
0.02% DTT, 0.32% Tris HCl, 20% Glycerol (glycerin, glycerine), 0.58% Sodium chloride.
Shipping
Shipped at 4 °C.
Storage
Store at -20 °C or -80 °C.
