VPS39
Vam6/Vps39-like protein
Also known as: KIAA0770, VAM6, VPS39_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96JC1
- Gene
- VPS39
- Ensembl
- ENSG00000166887
- Chromosome
- 15
- Canonical length
- 886 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Canonical amino-acid sequenceUniProt
886 residues, UniProt reviewed canonical sequence.
>Q96JC1|VPS39
1 MHDAFEPVPI LEKLPLQIDC LAAWEEWLLV GTKQGHLLLY RIRKDVVPAD VASPESGSCN
61 RFEVTLEKSN KNFSKKIQQI HVVSQFKILV SLLENNIYVH DLLTFQQITT VSKAKGASLF
121 TCDLQHTETG EEVLRMCVAV KKKLQLYFWK DREFHELQGD FSVPDVPKSM AWCENSICVG
181 FKRDYYLIRV DGKGSIKELF PTGKQLEPLV APLADGKVAV GQDDLTVVLN EEGICTQKCA
241 LNWTDIPVAM EHQPPYIIAV LPRYVEIRTF EPRLLVQSIE LQRPRFITSG GSNIIYVASN
301 HFVWRLIPVP MATQIQQLLQ DKQFELALQL AEMKDDSDSE KQQQIHHIKN LYAFNLFCQK
361 RFDESMQVFA KLGTDPTHVM GLYPDLLPTD YRKQLQYPNP LPVLSGAELE KAHLALIDYL
421 TQKRSQLVKK LNDSDHQSST SPLMEGTPTI KSKKKLLQII DTTLLKCYLH TNVALVAPLL
481 RLENNHCHIE ESEHVLKKAH KYSELIILYE KKGLHEKALQ VLVDQSKKAN SPLKGHERTV
541 QYLQHLGTEN LHLIFSYSVW VLRDFPEDGL KIFTEDLPEV ESLPRDRVLG FLIENFKGLA
601 IPYLEHIIHV WEETGSRFHN CLIQLYCEKV QGLMKEYLLS FPAGKTPVPA GEEEGELGEY
661 RQKLLMFLEI SSYYDPGRLI CDFPFDGLLE ERALLLGRMG KHEQALFIYV HILKDTRMAE
721 EYCHKHYDRN KDGNKDVYLS LLRMYLSPPS IHCLGPIKLE LLEPKANLQA ALQVLELHHS
781 KLDTTKALNL LPANTQINDI RIFLEKVLEE NAQKKRFNQV LKNLLHAEFL RVQEERILHQ
841 QVKCIITEEK VCMVCKKKIG NSAFARYPNG VVVHYFCSKE VNPADTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VPS39 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)
- 0.28
- Highest tissue expression
- 41 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 41 nTPM
- skeletal muscle: 35 nTPM
- tongue: 32 nTPM
- thymus: 30 nTPM
- skin: 28 nTPM
- cerebral cortex: 27 nTPM
Single-cell type
- neutrophil progenitors: 106 nCPM
- sertoli cells: 96 nCPM
- neutrophils: 89 nCPM
- microglia: 75 nCPM
- adrenal medulla cells: 75 nCPM
- corticotrophs: 73 nCPM
Immune cell
- basophil: 39 nTPM
- NK-cell: 21 nTPM
- total PBMC: 18 nTPM
- eosinophil: 18 nTPM
- neutrophil: 17 nTPM
- intermediate monocyte: 16 nTPM
Brain region
- hypothalamus: 47 nTPM
- cerebral cortex: 44 nTPM
- midbrain: 44 nTPM
- pons: 43 nTPM
- basal ganglia: 42 nTPM
- thalamus: 42 nTPM
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)
- 0.68
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.65
- DepMap mean gene effect
- -0.32
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome-lysosome fusion
- autophagy
- endocytic recycling
- endosomal vesicle fusion
- endosome to lysosome transport
- intracellular protein transport
- late endosome to lysosome transport
- regulation of SNARE complex assembly
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Clathrin, heavy chain/VPS, 7-fold repeat
- Citron homology (CNH) domain
- Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1
- Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated zinc finger domain
- Vam6/VPS39/TRAP1 family
- CNH domain
- Vacuolar sorting protein 39 domain 1
- Vacuolar sorting protein 39 C-terminal zinc finger domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VPS39 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 VPS39 as an antibody target. Whether an autoantibody or antibody against VPS39 could matter depends on whether native VPS39 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VPS39 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 VPS39 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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