UniProtKB - Q9H269 (VPS16_HUMAN)
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Protein
Vacuolar protein sorting-associated protein 16 homolog
Gene
VPS16
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for recruitment of VPS33A to the HOPS complex (PubMed:23901104). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS33A but not VPS33B (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).4 Publications3 Publications
GO - Molecular functioni
- actin binding Source: GO_Central
- actin filament binding Source: Ensembl
GO - Biological processi
- autophagosome maturation Source: UniProtKB
- endosome to lysosome transport Source: UniProtKB
- intracellular protein transport Source: InterPro
- regulation of SNARE complex assembly Source: GO_Central
- regulation of vacuole fusion, non-autophagic Source: GO_Central
- vacuole organization Source: InterPro
Keywordsi
Biological process | Autophagy, Protein transport, Transport |
Names & Taxonomyi
Protein namesi | Recommended name: Vacuolar protein sorting-associated protein 16 homologShort name: hVPS16 |
Gene namesi | Name:VPS16 |
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
EuPathDBi | HostDB:ENSG00000215305.9. |
HGNCi | HGNC:14584. VPS16. |
MIMi | 608550. gene. |
neXtProti | NX_Q9H269. |
Subcellular locationi
Keywords - Cellular componenti
Cytoplasmic vesicle, Endosome, Lysosome, MembranePathology & Biotechi
Involvement in diseasei
VSP16 mutation have been found in one familly with adolescent-onset primary dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 669 | A → D: Disrupts interaction with VPS33A, no effect on interaction with VPS18 and impairs endosome-lysosome fusion; when associated with E-725. 2 Publications | 1 | |
Mutagenesisi | 725 | R → E: Disrupts interaction with VPS33A, no effect on interaction with VPS18 and impairs endosome-lysosome fusion; when associated with D-669. 2 Publications | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
PharmGKBi | PA37903. |
Polymorphism and mutation databases
DMDMi | 23396927. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000065888 | 1 – 839 | Vacuolar protein sorting-associated protein 16 homologAdd BLAST | 839 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 4 | Nitrated tyrosineBy similarity | 1 |
Keywords - PTMi
NitrationProteomic databases
EPDi | Q9H269. |
MaxQBi | Q9H269. |
PaxDbi | Q9H269. |
PeptideAtlasi | Q9H269. |
PRIDEi | Q9H269. |
PTM databases
iPTMneti | Q9H269. |
PhosphoSitePlusi | Q9H269. |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000215305. |
ExpressionAtlasi | Q9H269. baseline and differential. |
Genevisiblei | Q9H269. HS. |
Organism-specific databases
HPAi | HPA043229. HPA048661. |
Interactioni
Subunit structurei
Core component of at least two putative endosomal tethering complexes, the homotypic fusion and vacuole protein sorting (HOPS) complex and the class C core vacuole/endosome tethering (CORVET) complex. Their common core is composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, which in HOPS further associates with VPS39 and VPS41 and in CORVET with VPS8 and TGFBRAP1 (PubMed:11382755, PubMed:25783203, PubMed:23901104, PubMed:25266290). Interacts with RAB5C (By similarity). Interacts with STX17, MON1B (PubMed:20434987, PubMed:24554770). Associates with adaptor protein complex 3 (AP-3) and clathrin:AP-3 complexes (By similarity).By similarity2 Publications4 Publications
Binary interactionsi
GO - Molecular functioni
- actin binding Source: GO_Central
- actin filament binding Source: Ensembl
Protein-protein interaction databases
BioGridi | 122220. 58 interactors. |
CORUMi | Q9H269. |
IntActi | Q9H269. 30 interactors. |
STRINGi | 9606.ENSP00000369810. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 645 – 660 | Combined sources | 16 | |
Helixi | 664 – 687 | Combined sources | 24 | |
Helixi | 696 – 705 | Combined sources | 10 | |
Helixi | 709 – 718 | Combined sources | 10 | |
Helixi | 723 – 734 | Combined sources | 12 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4BX9 | X-ray | 2.60 | C | 642-736 | [»] | |
ProteinModelPortali | Q9H269. | |||||
SMRi | Q9H269. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 642 – 736 | Interaction with VPS33A1 PublicationAdd BLAST | 95 |
Sequence similaritiesi
Belongs to the VPS16 family.Curated
Phylogenomic databases
eggNOGi | KOG2280. Eukaryota. ENOG410XQ8X. LUCA. |
GeneTreei | ENSGT00390000003896. |
HOVERGENi | HBG056306. |
InParanoidi | Q9H269. |
KOi | K20180. |
OMAi | SYCLLGR. |
OrthoDBi | EOG091G01XD. |
PhylomeDBi | Q9H269. |
TreeFami | TF105673. |
Family and domain databases
Gene3Di | 1.10.150.780. 1 hit. |
InterProi | View protein in InterPro IPR016534. VPS16. IPR006925. Vps16_C. IPR038132. Vps16_C_sf. IPR006926. Vps16_N. |
PANTHERi | PTHR12811. PTHR12811. 1 hit. |
Pfami | View protein in Pfam PF04840. Vps16_C. 1 hit. PF04841. Vps16_N. 1 hit. |
PIRSFi | PIRSF007949. VPS16. 1 hit. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9H269-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MDCYTANWNP LGDSAFYRKY ELYSMDWDLK EELRDCLVAA APYGGPIALL
60 70 80 90 100
RNPWRKEKAA SVRPVLDIYS ASGMPLASLL WKSGPVVSLG WSAEEELLCV
110 120 130 140 150
QEDGAVLVYG LHGDFRRHFS MGNEVLQNRV LDARIFHTEF GSGVAILTGA
160 170 180 190 200
HRFTLSANVG DLKLRRMPEV PGLQSAPSCW TVLCQDRVAH ILLAVGPDLY
210 220 230 240 250
LLDHAACSAV TPPGLAPGVS SFLQMAVSFT YRHLALFTDT GYIWMGTASL
260 270 280 290 300
KEKLCEFNCN IRAPPKQMVW CSRPRSKERA VVVAWERRLM VVGDAPESIQ
310 320 330 340 350
FVLDEDSYLV PELDGVRIFS RSTHEFLHEV PAASEEIFKI ASMAPGALLL
360 370 380 390 400
EAQKEYEKES QKADEYLREI QELGQLTQAV QQCIEAAGHE HQPDMQKSLL
410 420 430 440 450
RAASFGKCFL DRFPPDSFVH MCQDLRVLNA VRDYHIGIPL TYSQYKQLTI
460 470 480 490 500
QVLLDRLVLR RLYPLAIQIC EYLRLPEVQG VSRILAHWAC YKVQQKDVSD
510 520 530 540 550
EDVARAINQK LGDTPGVSYS DIAARAYGCG RTELAIKLLE YEPRSGEQVP
560 570 580 590 600
LLLKMKRSKL ALSKAIESGD TDLVFTVLLH LKNELNRGDF FMTLRNQPMA
610 620 630 640 650
LSLYRQFCKH QELETLKDLY NQDDNHQELG SFHIRASYAA EERIEGRVAA
660 670 680 690 700
LQTAADAFYK AKNEFAAKAT EDQMRLLRLQ RRLEDELGGQ FLDLSLHDTV
710 720 730 740 750
TTLILGGHNK RAEQLARDFR IPDKRLWWLK LTALADLEDW EELEKFSKSK
760 770 780 790 800
KSPIGYLPFV EICMKQHNKY EAKKYASRVG PEQKVKALLL VGDVAQAADV
810 820 830
AIEHRNEAEL SLVLSHCTGA TDGATADKIQ RARAQAQKK
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 87 | V → A in BAB71013 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 612 | E → G in BAB71013 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 690 – 691 | QF → LQ in AAH12422 (PubMed:15489334).Curated | 2 | |
Sequence conflicti | 768 | N → T in AAG34678 (PubMed:11250079).Curated | 1 | |
Sequence conflicti | 809 | E → D in AAH12422 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076520 | 52 | N → K Probable disease associated mutation found in patients with adolescent-onset primary dystonia. 1 PublicationCorresponds to variant dbSNP:rs367642720Ensembl. | 1 | |
Natural variantiVAR_053776 | 637 | S → I. Corresponds to variant dbSNP:rs35773586Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_004018 | 300 – 443 | Missing in isoform 2. 1 PublicationAdd BLAST | 144 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF308801 mRNA. Translation: AAG34678.1. AK055787 mRNA. Translation: BAB71013.1. AL161656 Genomic DNA. No translation available. AL834401 mRNA. Translation: CAD39063.1. BC012422 mRNA. Translation: AAH12422.1. BC021291 mRNA. Translation: AAH21291.2. BC064406 mRNA. Translation: AAH64406.1. |
CCDSi | CCDS13036.1. [Q9H269-1] CCDS13037.1. [Q9H269-2] |
RefSeqi | NP_072097.2. NM_022575.3. [Q9H269-1] NP_536338.1. NM_080413.2. [Q9H269-2] |
UniGenei | Hs.269577. |
Genome annotation databases
Ensembli | ENST00000380445; ENSP00000369810; ENSG00000215305. [Q9H269-1] ENST00000380469; ENSP00000369836; ENSG00000215305. [Q9H269-2] |
GeneIDi | 64601. |
KEGGi | hsa:64601. |
UCSCi | uc002whe.5. human. [Q9H269-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | VPS16_HUMAN | |
Accessioni | Q9H269Primary (citable) accession number: Q9H269 Secondary accession number(s): Q5JUB1 Q9H1Q5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2002 |
Last sequence update: | September 19, 2002 | |
Last modified: | March 28, 2018 | |
This is version 147 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. |