VPS51
Vacuolar protein sorting-associated protein 51 homolog
Also known as: ANG2, ANG3, C11orf2, C11orf3, FFR, VPS51_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UID3
- Gene
- VPS51
- Ensembl
- ENSG00000149823
- Chromosome
- 11
- Canonical length
- 782 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoli,Golgi apparatus,Vesicles
OverviewNCBI Gene
This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Canonical amino-acid sequenceUniProt
782 residues, UniProt reviewed canonical sequence.
>Q9UID3|VPS51
1 MAAAAAAGPS PGSGPGDSPE GPEGEAPERR RKAHGMLKLY YGLSEGEAAG RPAGPDPLDP
61 TDLNGAHFDP EVYLDKLRRE CPLAQLMDSE TDMVRQIRAL DSDMQTLVYE NYNKFISATD
121 TIRKMKNDFR KMEDEMDRLA TNMAVITDFS ARISATLQDR HERITKLAGV HALLRKLQFL
181 FELPSRLTKC VELGAYGQAV RYQGRAQAVL QQYQHLPSFR AIQDDCQVIT ARLAQQLRQR
241 FREGGSGAPE QAECVELLLA LGEPAEELCE EFLAHARGRL EKELRNLEAE LGPSPPAPDV
301 LEFTDHGGSG FVGGLCQVAA AYQELFAAQG PAGAEKLAAF ARQLGSRYFA LVERRLAQEQ
361 GGGDNSLLVR ALDRFHRRLR APGALLAAAG LADAATEIVE RVARERLGHH LQGLRAAFLG
421 CLTDVRQALA APRVAGKEGP GLAELLANVA SSILSHIKAS LAAVHLFTAK EVSFSNKPYF
481 RGEFCSQGVR EGLIVGFVHS MCQTAQSFCD SPGEKGGATP PALLLLLSRL CLDYETATIS
541 YILTLTDEQF LVQDQFPVTP VSTLCAEARE TARRLLTHYV KVQGLVISQM LRKSVETRDW
601 LSTLEPRNVR AVMKRVVEDT TAIDVQVGLL YEEGVRKAQS SDSSKRTFSV YSSSRQQGRY
661 APSYTPSAPM DTNLLSNIQK LFSERIDVFS PVEFNKVSVL TGIIKISLKT LLECVRLRTF
721 GRFGLQQVQV DCHFLQLYLW RFVADEELVH LLLDEVVASA ALRCPDPVPM EPSVVEVICE
781 RGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VPS51 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 123 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 123 nTPM
- ovary: 85 nTPM
- skeletal muscle: 84 nTPM
- skin: 73 nTPM
- stomach: 71 nTPM
- blood vessel: 65 nTPM
Single-cell type
- late spermatids: 375 nCPM
- pancreatic acinar cells: 195 nCPM
- colonocytes: 189 nCPM
- enteric stem cells: 176 nCPM
- syncytiotrophoblasts: 166 nCPM
- enteric transient amplifying cells: 164 nCPM
Immune cell
- NK-cell: 31 nTPM
- memory CD8 T-cell: 27 nTPM
- memory CD4 T-cell: 25 nTPM
- naive CD4 T-cell: 23 nTPM
- memory B-cell: 23 nTPM
- myeloid DC: 22 nTPM
Brain region
- basal ganglia: 66 nTPM
- cerebral cortex: 65 nTPM
- hippocampal formation: 65 nTPM
- cerebellum: 64 nTPM
- choroid plexus: 61 nTPM
- white matter: 61 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about VPS51.
Disease | AllUniProt
Conditions VPS51 is implicated in, by any mechanism.
- Pontocerebellar hypoplasia 13 (PCH13) MIM:618606
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 181 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pontocerebellar hypoplasia, type 13
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)
- 0.92
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.66
- DepMap mean gene effect
- -0.51
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagy
- brain morphogenesis
- endocytic recycling
- Golgi organization
- Golgi vesicle transport
- lysosomal transport
- protein targeting
- protein transport
- retrograde transport, endosome to Golgi
- vesicle-mediated cholesterol transport
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cullin repeat-like-containing domain superfamily
- Vps51/EXO84/COG1 N-terminal
- Vacuolar protein sorting-associated protein 51
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VPS51 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 VPS51 as an antibody target. Whether an autoantibody or antibody against VPS51 could matter depends on whether native VPS51 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VPS51 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 VPS51 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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