Property Summary

NCBI Gene PubMed Count 33
Grant Count 4
R01 Count 2
Funding $274,745.83
PubMed Score 33.88
PubTator Score 30.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -2.013 0.000
lung cancer 1.400 0.003
ovarian cancer 1.400 0.000

Gene RIF (16)

PMID Text
26399659 Vesicular trafficking complexes, containing VPS33B, are a novel class of modifiers of integrin function.
25947942 Abnormal protein trafficking and impairment in multivesicular bodies maturation in Megakaryocytes underlie the alpha-granule deficiency in Vps33b(fl/fl)-ER(T2) mouse and ARC patients.
24917129 Novel splice site mutations in the VPS33B gene were identified in arthrogryposis, renal dysfunction, and cholestasis syndrome in Koreans.
24782640 Case Report: neonate with ARC syndrome and high GGT cholestasis caused by VPS33B heterozygous mutations.
24415890 Case Report: novel mutations in VPS33B in Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome.
23918659 Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion.
23002115 VPS16B, similar to its binding partner VPS33B, is essential for megakaryocyte and platelet alpha-granule biogenesis.
22753090 Evidence of genotype-phenotype correlation in ARC syndrome the VPS33B c.1225+5G>C mutation predicts a mild phenotype.
22677173 SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells
19274792 We assessed the clinical characteristics and investigated the VPS33B mutations in Korean patients with ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome.
More...

AA Sequence

MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQLPGKKDLFIEADLMSPLDRIANVSILKQHEVDKLYKVE      1 - 70
NKPALSSNEQLCFLVRPRIKNMRYIASLVNADKLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDE     71 - 140
WAFSLLPLDVDLLSMELPEFFRDYFLEGDQRWINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNL    141 - 210
EEEEDGETKGRRPEIGHIFLLDRDVDFVTALCSQVVYEGLVDDTFRIKCGSVDFGPEVTSSDKSLKVLLN    211 - 280
AEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDIKQMKNFVSQELKGLKQEHRLLSLHIGACES    281 - 350
IMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLIPKDYRSLKT    351 - 420
QYLQSYGPEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAKRSNFRAISKK    421 - 490
LNLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRIIEQVLERRSWQGLDEVVRLLNCSDFAFTDMTKEDKA    491 - 560
SSESLRLILVVFLGGCTFSEISALRFLGREKGYRFIFLTTAVTNSARLMEAMSEVKA                 561 - 617
//

Text Mined References (37)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26403612 2015 Vps33B is required for delivery of endocytosed cargo to lysosomes.
26399659 2015 Characterization of a Novel Integrin Binding Protein, VPS33B, Which Is Important for Platelet Activation and In Vivo Thrombosis and Hemostasis.
25947942 2015 VPS33B regulates protein sorting into and maturation of ?-granule progenitor organelles in mouse megakaryocytes.
25783203 2015 Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.
25416956 2014 A proteome-scale map of the human interactome network.
24917129 2015 Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
24782640 2014 ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
24415890 2014 Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.
More...