VPS45
Vacuolar protein sorting-associated protein 45
Also known as: h-vps45, H1, VPS45_HUMAN, VPS45A, VPS45B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NRW7
- Gene
- VPS45
- Ensembl
- ENSG00000136631
- Chromosome
- 1
- Canonical length
- 570 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Microtubules
OverviewNCBI Gene
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
570 residues, UniProt reviewed canonical sequence.
>Q9NRW7|VPS45
1 MNVVFAVKQY ISKMIEDSGP GMKVLLMDKE TTGIVSMVYT QSEILQKEVY LFERIDSQNR
61 EIMKHLKAIC FLRPTKENVD YIIQELRRPK YTIYFIYFSN VISKSDVKSL AEADEQEVVA
121 EVQEFYGDYI AVNPHLFSLN ILGCCQGRNW DPAQLSRTTQ GLTALLLSLK KCPMIRYQLS
181 SEAAKRLAEC VKQVITKEYE LFEFRRTEVP PLLLILDRCD DAITPLLNQW TYQAMVHELL
241 GINNNRIDLS RVPGISKDLR EVVLSAENDE FYANNMYLNF AEIGSNIKNL MEDFQKKKPK
301 EQQKLESIAD MKAFVENYPQ FKKMSGTVSK HVTVVGELSR LVSERNLLEV SEVEQELACQ
361 NDHSSALQNI KRLLQNPKVT EFDAARLVML YALHYERHSS NSLPGLMMDL RNKGVSEKYR
421 KLVSAVVEYG GKRVRGSDLF SPKDAVAITK QFLKGLKGVE NVYTQHQPFL HETLDHLIKG
481 RLKENLYPYL GPSTLRDRPQ DIIVFVIGGA TYEEALTVYN LNRTTPGVRI VLGGTTVHNT
541 KSFLEEVLAS GLHSRSKESS QVTSRSASRRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VPS45 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 34 nTPM
- cerebellum: 33 nTPM
- blood vessel: 28 nTPM
- retina: 25 nTPM
- parathyroid gland: 24 nTPM
- choroid plexus: 23 nTPM
Single-cell type
- late spermatids: 397 nCPM
- early spermatids: 272 nCPM
- cardiomyocytes: 245 nCPM
- myonuclei: 207 nCPM
- adrenal cortex cells: 140 nCPM
- lactotrophs: 132 nCPM
Immune cell
- intermediate monocyte: 26 nTPM
- classical monocyte: 25 nTPM
- myeloid DC: 24 nTPM
- non-classical monocyte: 19 nTPM
- total PBMC: 17 nTPM
- basophil: 17 nTPM
Brain region
- cerebellum: 27 nTPM
- hypothalamus: 23 nTPM
- basal ganglia: 22 nTPM
- cerebral cortex: 22 nTPM
- midbrain: 20 nTPM
- amygdala: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about VPS45.
Disease | AllUniProt
Conditions VPS45 is implicated in, by any mechanism.
- Neutropenia, severe congenital 5, autosomal recessive (SCN5) MIM:615285
Disease | GeneticClinVar
16 pathogenic / likely-pathogenic of 697 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome
- Severe congenital neutropenia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.66
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.63
- DepMap mean gene effect
- -0.33
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VPS45 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads VPS45 as an antibody target. Whether an autoantibody or antibody against VPS45 could matter depends on whether native VPS45 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VPS45 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label VPS45 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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