Property Summary

NCBI Gene PubMed Count 19
Grant Count 10
R01 Count 8
Funding $1,073,924.18
PubMed Score 39.11
PubTator Score 16.50

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
tuberculosis 1.500 0.000
intraductal papillary-mucinous adenoma (... 1.100 0.002
ovarian cancer 1.800 0.000

Gene RIF (4)

PMID Text
26358756 A homozygous VPS45 p.E238K mutation is associated with severe congenital neutropenia with neurological impairment.
23738510 Defective endosomal intracellular protein trafficking due to biallelic mutations in VPS45 underlies a new immunodeficiency syndrome involving impaired neutrophil function.
23599270 we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening neutropenia.
19931244 Data implicate hVps45 and Rabenosyn-5 in post early endosome transport, and suggest that their interaction serves as a nexus to promote bidirectional transport along the endosome-to-recycling compartment and endosome-to-Golgi axes.

AA Sequence

MNVVFAVKQYISKMIEDSGPGMKVLLMDKETTGIVSMVYTQSEILQKEVYLFERIDSQNREIMKHLKAIC      1 - 70
FLRPTKENVDYIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQEVVAEVQEFYGDYIAVNPHLFSLN     71 - 140
ILGCCQGRNWDPAQLSRTTQGLTALLLSLKKCPMIRYQLSSEAAKRLAECVKQVITKEYELFEFRRTEVP    141 - 210
PLLLILDRCDDAITPLLNQWTYQAMVHELLGINNNRIDLSRVPGISKDLREVVLSAENDEFYANNMYLNF    211 - 280
AEIGSNIKNLMEDFQKKKPKEQQKLESIADMKAFVENYPQFKKMSGTVSKHVTVVGELSRLVSERNLLEV    281 - 350
SEVEQELACQNDHSSALQNIKRLLQNPKVTEFDAARLVMLYALHYERHSSNSLPGLMMDLRNKGVSEKYR    351 - 420
KLVSAVVEYGGKRVRGSDLFSPKDAVAITKQFLKGLKGVENVYTQHQPFLHETLDHLIKGRLKENLYPYL    421 - 490
GPSTLRDRPQDIIVFVIGGATYEEALTVYNLNRTTPGVRIVLGGTTVHNTKSFLEEVLASGLHSRSKESS    491 - 560
QVTSRSASRR                                                                561 - 570
//

Text Mined References (23)

PMID Year Title
26358756 2015 Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
25416956 2014 A proteome-scale map of the human interactome network.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23738510 2013 A congenital neutrophil defect syndrome associated with mutations in VPS45.
23599270 2013 The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21294900 2011 A genome-wide association study of serum uric acid in African Americans.
21269460 2011 Initial characterization of the human central proteome.
19931244 2010 Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells.
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