VPS41
Vacuolar protein sorting-associated protein 41 homolog
Also known as: HVSP41, VPS41_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P49754
- Gene
- VPS41
- Ensembl
- ENSG00000006715
- Chromosome
- 7
- Canonical length
- 854 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
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 encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
854 residues, UniProt reviewed canonical sequence.
>P49754|VPS41
1 MAEAEEQETG SLEESTDESE EEESEEEPKL KYERLSNGVT EILQKDAASC MTVHDKFLAL
61 GTHYGKVYLL DVQGNITQKF DVSPVKINQI SLDESGEHMG VCSEDGKVQV FGLYSGEEFH
121 ETFDCPIKII AVHPHFVRSS CKQFVTGGKK LLLFERSWMN RWKSAVLHEG EGNIRSVKWR
181 GHLIAWANNM GVKIFDIISK QRITNVPRDD ISLRPDMYPC SLCWKDNVTL IIGWGTSVKV
241 CSVKERHASE MRDLPSRYVE IVSQFETEFY ISGLAPLCDQ LVVLSYVKEI SEKTEREYCA
301 RPRLDIIQPL SETCEEISSD ALTVRGFQEN ECRDYHLEYS EGESLFYIVS PRDVVVAKER
361 DQDDHIDWLL EKKKYEEALM AAEISQKNIK RHKILDIGLA YINHLVERGD YDIAARKCQK
421 ILGKNAALWE YEVYKFKEIG QLKAISPYLP RGDPVLKPLI YEMILHEFLE SDYEGFATLI
481 REWPGDLYNN SVIVQAVRDH LKKDSQNKTL LKTLAELYTY DKNYGNALEI YLTLRHKDVF
541 QLIHKHNLFS SIKDKIVLLM DFDSEKAVDM LLDNEDKISI KKVVEELEDR PELQHVYLHK
601 LFKRDHHKGQ RYHEKQISLY AEYDRPNLLP FLRDSTHCPL EKALEICQQR NFVEETVYLL
661 SRMGNSRSAL KMIMEELHDV DKAIEFAKEQ DDGELWEDLI LYSIDKPPFI TGLLNNIGTH
721 VDPILLIHRI KEGMEIPNLR DSLVKILQDY NLQILLREGC KKILVADSLS LLKKMHRTQM
781 KGVLVDEENI CESCLSPILP SDAAKPFSVV VFHCRHMFHK ECLPMPSMNS AAQFCNICSA
841 KNRGPGSAIL EMKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VPS41 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)
- 0.3
- Highest tissue expression
- 54 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 54 nTPM
- parathyroid gland: 35 nTPM
- gallbladder: 34 nTPM
- thyroid gland: 29 nTPM
- kidney: 29 nTPM
- retina: 27 nTPM
Single-cell type
- retinal pigment epithelial cells: 273 nCPM
- choroid plexus epithelial cells: 258 nCPM
- thyrotrophs: 239 nCPM
- somatotrophs: 220 nCPM
- lactotrophs: 210 nCPM
- pituicytes/fscs: 162 nCPM
Immune cell
- eosinophil: 28 nTPM
- non-classical monocyte: 28 nTPM
- basophil: 27 nTPM
- myeloid DC: 23 nTPM
- neutrophil: 23 nTPM
- NK-cell: 23 nTPM
Brain region
- choroid plexus: 83 nTPM
- white matter: 75 nTPM
- cerebral cortex: 75 nTPM
- basal ganglia: 73 nTPM
- hypothalamus: 64 nTPM
- pons: 64 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about VPS41.
Disease | AllUniProt
Conditions VPS41 is implicated in, by any mechanism.
- Spinocerebellar ataxia, autosomal recessive, 29 (SCAR29) MIM:619389
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 225 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spinocerebellar ataxia, autosomal recessive 29
- Hyperimmunoglobulin D with periodic fever
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)
- 0.84
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.48
- DepMap mean gene effect
- -0.5
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to starvation
- endosomal vesicle fusion
- endosome to lysosome transport
- Golgi vesicle transport
- late endosome to lysosome transport
- macroautophagy
- protein targeting to vacuole
- regulation of SNARE complex assembly
- vesicle-mediated transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Clathrin, heavy chain/VPS, 7-fold repeat
- Zinc finger, RING-type
- Tetratricopeptide-like helical domain superfamily
- WD40/YVTN repeat-like-containing domain superfamily
- WD40-repeat-containing domain superfamily
- Vacuolar protein sorting-associated protein Vps41/Vps8
- Vacuolar protein sorting-associated protein 41
- Vps41, C-terminal RING finger
- Vps41, beta-propeller
- Vps42 beta-propeller
- Vps41 C-terminal RING finger domain
- Vps41 TPR-like region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VPS41 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 VPS41 as an antibody target. Whether an autoantibody or antibody against VPS41 could matter depends on whether native VPS41 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VPS41 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 VPS41 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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