UniProtKB - Q9UID3 (VPS51_HUMAN)
Vacuolar protein sorting-associated protein 51 homolog
VPS51
Functioni
Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960).
Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).
2 PublicationsGO - Biological processi
- autophagy Source: UniProtKB
- brain morphogenesis Source: UniProtKB
- endocytic recycling Source: UniProtKB
- Golgi organization Source: GO_Central
- Golgi vesicle transport Source: GO_Central
- lipid transport Source: UniProtKB-KW
- lysosomal transport Source: MGI
- protein transport Source: UniProtKB-KW
- retrograde transport, endosome to Golgi Source: UniProtKB
Keywordsi
Biological process | Lipid transport, Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9UID3 |
Reactomei | R-HSA-6811440, Retrograde transport at the Trans-Golgi-Network |
SignaLinki | Q9UID3 |
Names & Taxonomyi
Protein namesi | Recommended name: Vacuolar protein sorting-associated protein 51 homologAlternative name(s): Another new gene 2 protein Protein fat-free homolog |
Gene namesi | Name:VPS51 Synonyms:ANG2, C11orf2, C11orf3, FFR ORF Names:PP5382 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1172, VPS51 |
MIMi | 615738, gene |
neXtProti | NX_Q9UID3 |
VEuPathDBi | HostDB:ENSG00000149823 |
Subcellular locationi
Golgi apparatus
- trans-Golgi network 1 Publication
Endosome
- Recycling endosome 1 Publication
Note: Localizes to the trans-Golgi network as part of the GARP complex, while it localizes to recycling endosomes as part of the EARP complex (PubMed:25799061).1 Publication
Cytosol
- cytosol Source: GOC
Endosome
- EARP complex Source: UniProtKB
- recycling endosome Source: UniProtKB
Golgi apparatus
- GARP complex Source: UniProtKB
- Golgi apparatus Source: UniProtKB
- trans-Golgi network membrane Source: Reactome
Nucleus
- nucleolus Source: HPA
Other locations
- integral component of membrane Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
- membrane Source: MGI
Keywords - Cellular componenti
Endosome, Golgi apparatusPathology & Biotechi
Involvement in diseasei
Pontocerebellar hypoplasia 13 (PCH13)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083138 | 474 | Missing in PCH13; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083139 | 490 | R → C in PCH13; impaired association with VPS50 and VPS53 subunits; reduced levels of assembled GARP and EARP complexes. 1 PublicationCorresponds to variant dbSNP:rs1203009966EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 738 |
MalaCardsi | VPS51 |
MIMi | 618606, phenotype |
OpenTargetsi | ENSG00000149823 |
PharmGKBi | PA25485 |
Miscellaneous databases
Pharosi | Q9UID3, Tbio |
Genetic variation databases
BioMutai | VPS51 |
DMDMi | 71153003 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000089831 | 2 – 782 | Vacuolar protein sorting-associated protein 51 homologAdd BLAST | 781 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 18 | PhosphoserineCombined sources | 1 | |
Modified residuei | 44 | PhosphoserineBy similarity | 1 | |
Modified residuei | 649 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9UID3 |
jPOSTi | Q9UID3 |
MassIVEi | Q9UID3 |
MaxQBi | Q9UID3 |
PaxDbi | Q9UID3 |
PeptideAtlasi | Q9UID3 |
PRIDEi | Q9UID3 |
ProteomicsDBi | 84494 [Q9UID3-1] 84495 [Q9UID3-2] |
PTM databases
GlyGeni | Q9UID3, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9UID3 |
PhosphoSitePlusi | Q9UID3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000149823, Expressed in cerebellum and 239 other tissues |
ExpressionAtlasi | Q9UID3, baseline and differential |
Genevisiblei | Q9UID3, HS |
Organism-specific databases
HPAi | ENSG00000149823, Low tissue specificity |
Interactioni
Subunit structurei
Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54 (PubMed:20685960, PubMed:27440922, PubMed:30624672).
Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin (PubMed:25799061, PubMed:27440922, PubMed:30624672). EIPR1 interacts with both EARP and GARP complexes and mediates the recruitment of the GARP complex to the trans-Golgi network (PubMed:27440922).
Interacts with STX6 (PubMed:20685960).
Interacts with VPS50 and VPS54 in an EIPR1-independent manner (PubMed:31721635).
5 PublicationsBinary interactionsi
Isoform 1 [Q9UID3-1]
With | #Exp. | IntAct |
---|---|---|
STX10 - isoform 1 [O60499-1] | 5 | EBI-16067837,EBI-16067850 |
STX6 [O43752] | 8 | EBI-16067837,EBI-2695795 |
VPS50 [Q96JG6] | 6 | EBI-16067837,EBI-11044388 |
VPS52 [Q8N1B4] | 4 | EBI-16067837,EBI-2799833 |
Protein-protein interaction databases
BioGRIDi | 107197, 149 interactors |
ComplexPortali | CPX-6207, EARP tethering complex CPX-6208, GARP tethering complex |
CORUMi | Q9UID3 |
DIPi | DIP-60562N |
IntActi | Q9UID3, 37 interactors |
MINTi | Q9UID3 |
STRINGi | 9606.ENSP00000279281 |
Miscellaneous databases
RNActi | Q9UID3, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9UID3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 37 | DisorderedSequence analysisAdd BLAST | 37 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 116 – 147 | Sequence analysisAdd BLAST | 32 | |
Coiled coili | 270 – 292 | Sequence analysisAdd BLAST | 23 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG2346, Eukaryota |
GeneTreei | ENSGT00390000001738 |
HOGENOMi | CLU_020677_0_0_1 |
InParanoidi | Q9UID3 |
OMAi | HTIEPRT |
OrthoDBi | 1305393at2759 |
PhylomeDBi | Q9UID3 |
TreeFami | TF314825 |
Family and domain databases
InterProi | View protein in InterPro IPR016159, Cullin_repeat-like_dom_sf IPR039481, EXOC2/Sec5_N_dom IPR014812, Vps51 |
PANTHERi | PTHR15954, PTHR15954, 1 hit |
Pfami | View protein in Pfam PF15469, Sec5, 1 hit |
SUPFAMi | SSF74788, SSF74788, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAAAAAGPS PGSGPGDSPE GPEGEAPERR RKAHGMLKLY YGLSEGEAAG
60 70 80 90 100
RPAGPDPLDP TDLNGAHFDP EVYLDKLRRE CPLAQLMDSE TDMVRQIRAL
110 120 130 140 150
DSDMQTLVYE NYNKFISATD TIRKMKNDFR KMEDEMDRLA TNMAVITDFS
160 170 180 190 200
ARISATLQDR HERITKLAGV HALLRKLQFL FELPSRLTKC VELGAYGQAV
210 220 230 240 250
RYQGRAQAVL QQYQHLPSFR AIQDDCQVIT ARLAQQLRQR FREGGSGAPE
260 270 280 290 300
QAECVELLLA LGEPAEELCE EFLAHARGRL EKELRNLEAE LGPSPPAPDV
310 320 330 340 350
LEFTDHGGSG FVGGLCQVAA AYQELFAAQG PAGAEKLAAF ARQLGSRYFA
360 370 380 390 400
LVERRLAQEQ GGGDNSLLVR ALDRFHRRLR APGALLAAAG LADAATEIVE
410 420 430 440 450
RVARERLGHH LQGLRAAFLG CLTDVRQALA APRVAGKEGP GLAELLANVA
460 470 480 490 500
SSILSHIKAS LAAVHLFTAK EVSFSNKPYF RGEFCSQGVR EGLIVGFVHS
510 520 530 540 550
MCQTAQSFCD SPGEKGGATP PALLLLLSRL CLDYETATIS YILTLTDEQF
560 570 580 590 600
LVQDQFPVTP VSTLCAEARE TARRLLTHYV KVQGLVISQM LRKSVETRDW
610 620 630 640 650
LSTLEPRNVR AVMKRVVEDT TAIDVQVGLL YEEGVRKAQS SDSSKRTFSV
660 670 680 690 700
YSSSRQQGRY APSYTPSAPM DTNLLSNIQK LFSERIDVFS PVEFNKVSVL
710 720 730 740 750
TGIIKISLKT LLECVRLRTF GRFGLQQVQV DCHFLQLYLW RFVADEELVH
760 770 780
LLLDEVVASA ALRCPDPVPM EPSVVEVICE RG
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PKX7 | E9PKX7_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 334 | Annotation score: | ||
E9PQN6 | E9PQN6_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 165 | Annotation score: | ||
E9PJ36 | E9PJ36_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 255 | Annotation score: | ||
E9PMB6 | E9PMB6_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 110 | Annotation score: | ||
E9PRV0 | E9PRV0_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 233 | Annotation score: | ||
E9PQD5 | E9PQD5_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 163 | Annotation score: | ||
H0YEE1 | H0YEE1_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 199 | Annotation score: | ||
H0YCB7 | H0YCB7_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 99 | Annotation score: | ||
E9PKE5 | E9PKE5_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 81 | Annotation score: | ||
A0A1W2PQZ2 | A0A1W2PQZ2_HUMAN | Vacuolar protein sorting-associated... | VPS51 | 81 | Annotation score: | ||
There is more potential isoformShow all |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083138 | 474 | Missing in PCH13; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083139 | 490 | R → C in PCH13; impaired association with VPS50 and VPS53 subunits; reduced levels of assembled GARP and EARP complexes. 1 PublicationCorresponds to variant dbSNP:rs1203009966EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_014700 | 1 – 124 | Missing in isoform 2. 1 PublicationAdd BLAST | 124 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF024631 mRNA Translation: AAF21627.2 AF289557 mRNA Translation: AAL55741.1 AL833818 mRNA Translation: CAD38681.2 AP003068 Genomic DNA No translation available. BC006555 mRNA Translation: AAH06555.2 BC007198 mRNA Translation: AAH07198.1 BC009285 mRNA Translation: AAH09285.2 BC010540 mRNA Translation: AAH10540.1 BC017438 mRNA Translation: AAH17438.1 |
CCDSi | CCDS8093.1 [Q9UID3-1] |
RefSeqi | NP_037397.2, NM_013265.3 [Q9UID3-1] |
Genome annotation databases
Ensembli | ENST00000279281; ENSP00000279281; ENSG00000149823 |
GeneIDi | 738 |
KEGGi | hsa:738 |
MANE-Selecti | ENST00000279281.8; ENSP00000279281.3; NM_013265.4; NP_037397.2 |
UCSCi | uc001ocr.3, human [Q9UID3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF024631 mRNA Translation: AAF21627.2 AF289557 mRNA Translation: AAL55741.1 AL833818 mRNA Translation: CAD38681.2 AP003068 Genomic DNA No translation available. BC006555 mRNA Translation: AAH06555.2 BC007198 mRNA Translation: AAH07198.1 BC009285 mRNA Translation: AAH09285.2 BC010540 mRNA Translation: AAH10540.1 BC017438 mRNA Translation: AAH17438.1 |
CCDSi | CCDS8093.1 [Q9UID3-1] |
RefSeqi | NP_037397.2, NM_013265.3 [Q9UID3-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4J2C | X-ray | 1.80 | B/D | 33-49 | [»] | |
SMRi | Q9UID3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107197, 149 interactors |
ComplexPortali | CPX-6207, EARP tethering complex CPX-6208, GARP tethering complex |
CORUMi | Q9UID3 |
DIPi | DIP-60562N |
IntActi | Q9UID3, 37 interactors |
MINTi | Q9UID3 |
STRINGi | 9606.ENSP00000279281 |
PTM databases
GlyGeni | Q9UID3, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9UID3 |
PhosphoSitePlusi | Q9UID3 |
Genetic variation databases
BioMutai | VPS51 |
DMDMi | 71153003 |
Proteomic databases
EPDi | Q9UID3 |
jPOSTi | Q9UID3 |
MassIVEi | Q9UID3 |
MaxQBi | Q9UID3 |
PaxDbi | Q9UID3 |
PeptideAtlasi | Q9UID3 |
PRIDEi | Q9UID3 |
ProteomicsDBi | 84494 [Q9UID3-1] 84495 [Q9UID3-2] |
Protocols and materials databases
Antibodypediai | 49945, 86 antibodies from 26 providers |
DNASUi | 738 |
Genome annotation databases
Ensembli | ENST00000279281; ENSP00000279281; ENSG00000149823 |
GeneIDi | 738 |
KEGGi | hsa:738 |
MANE-Selecti | ENST00000279281.8; ENSP00000279281.3; NM_013265.4; NP_037397.2 |
UCSCi | uc001ocr.3, human [Q9UID3-1] |
Organism-specific databases
CTDi | 738 |
DisGeNETi | 738 |
GeneCardsi | VPS51 |
HGNCi | HGNC:1172, VPS51 |
HPAi | ENSG00000149823, Low tissue specificity |
MalaCardsi | VPS51 |
MIMi | 615738, gene 618606, phenotype |
neXtProti | NX_Q9UID3 |
OpenTargetsi | ENSG00000149823 |
PharmGKBi | PA25485 |
VEuPathDBi | HostDB:ENSG00000149823 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2346, Eukaryota |
GeneTreei | ENSGT00390000001738 |
HOGENOMi | CLU_020677_0_0_1 |
InParanoidi | Q9UID3 |
OMAi | HTIEPRT |
OrthoDBi | 1305393at2759 |
PhylomeDBi | Q9UID3 |
TreeFami | TF314825 |
Enzyme and pathway databases
PathwayCommonsi | Q9UID3 |
Reactomei | R-HSA-6811440, Retrograde transport at the Trans-Golgi-Network |
SignaLinki | Q9UID3 |
Miscellaneous databases
BioGRID-ORCSi | 738, 420 hits in 1052 CRISPR screens |
ChiTaRSi | VPS51, human |
GenomeRNAii | 738 |
Pharosi | Q9UID3, Tbio |
PROi | PR:Q9UID3 |
RNActi | Q9UID3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000149823, Expressed in cerebellum and 239 other tissues |
ExpressionAtlasi | Q9UID3, baseline and differential |
Genevisiblei | Q9UID3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR016159, Cullin_repeat-like_dom_sf IPR039481, EXOC2/Sec5_N_dom IPR014812, Vps51 |
PANTHERi | PTHR15954, PTHR15954, 1 hit |
Pfami | View protein in Pfam PF15469, Sec5, 1 hit |
SUPFAMi | SSF74788, SSF74788, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | VPS51_HUMAN | |
Accessioni | Q9UID3Primary (citable) accession number: Q9UID3 Secondary accession number(s): Q6PJV5 Q96GR3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2005 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 154 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families