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Protein

Protein VAC14 homolog

Gene

Vac14

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 5-phosphate (PtdIns5P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.2 Publications

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-MMU-1660514 Synthesis of PIPs at the Golgi membrane
R-MMU-1660516 Synthesis of PIPs at the early endosome membrane
R-MMU-1660517 Synthesis of PIPs at the late endosome membrane

Names & Taxonomyi

Protein namesi
Recommended name:
Protein VAC14 homolog
Gene namesi
Name:Vac14
Synonyms:D8Wsu151e
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2157980 Vac14

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Endosome, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Defects in Vac14 are the cause of the infantile gliosis phenotype (ingls). Mice exhibit reduced body size and diluted pigmentation that can be recognized as early as postnatal day 3 (P3). By P14, the mice exhibit a tremor and impaired motor function. Maximal survival of the mice is for 3 weeks. Small areas with the appearance of spongiform degeneration are visible in several brain regions, including the thalamus, brain stem and cerebellar nucleus.1 Publication

Disruption phenotypei

Mice die perinatally and exhibit profound degeneration in certain regions of the central and peripheral nervous systems. Selected regions in the brain are affected, especially the medulla, the pons and the midbrain and increased cell death occurs in these areas. Affected neurons contain large vacuoles.1 Publication

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Chemistry databases

ChEMBLiCHEMBL2176841

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003004861 – 782Protein VAC14 homologAdd BLAST782

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1
Modified residuei11PhosphothreonineBy similarity1
Modified residuei499PhosphothreonineBy similarity1
Modified residuei517PhosphoserineBy similarity1
Modified residuei743PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ80WQ2
MaxQBiQ80WQ2
PaxDbiQ80WQ2
PeptideAtlasiQ80WQ2
PRIDEiQ80WQ2

PTM databases

iPTMnetiQ80WQ2
PhosphoSitePlusiQ80WQ2

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSMUSG00000010936
CleanExiMM_VAC14
ExpressionAtlasiQ80WQ2 baseline and differential
GenevisibleiQ80WQ2 MM

Interactioni

Subunit structurei

Forms homooligomers (By similarity). Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold. Interacts with NOS1 (By similarity).By similarity

Protein-protein interaction databases

BioGridi231569, 3 interactors
IntActiQ80WQ2, 6 interactors
MINTiQ80WQ2
STRINGi10090.ENSMUSP00000034190

Structurei

3D structure databases

ProteinModelPortaliQ80WQ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati5 – 42HEAT 1Add BLAST38
Repeati89 – 126HEAT 2Add BLAST38
Repeati171 – 208HEAT 3Add BLAST38
Repeati212 – 249HEAT 4Add BLAST38
Repeati438 – 475HEAT 5Add BLAST38
Repeati560 – 598HEAT 6Add BLAST39

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni773 – 777Mediates interaction with the PDZ domain of NOS1By similarity5

Domaini

The C-terminal domain (residues 523-782) mediates homomeric interactions and is necessary for the formation and maintenance of the PI(3,5)P2 regulatory complex.By similarity

Sequence similaritiesi

Belongs to the VAC14 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0212 Eukaryota
ENOG410XP6E LUCA
GeneTreeiENSGT00390000008385
HOGENOMiHOG000216640
HOVERGENiHBG104397
InParanoidiQ80WQ2
KOiK15305
OMAiCIEKEED
OrthoDBiEOG091G02O6
PhylomeDBiQ80WQ2
TreeFamiTF343690

Family and domain databases

Gene3Di1.25.10.10, 2 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR026825 Vac14
IPR032878 Vac14_Fab1-bd
IPR021841 VAC14_Fig4p-bd
PANTHERiPTHR16023 PTHR16023, 1 hit
PfamiView protein in Pfam
PF12755 Vac14_Fab1_bd, 1 hit
PF11916 Vac14_Fig4_bd, 1 hit
SUPFAMiSSF48371 SSF48371, 3 hits

Sequencei

Sequence statusi: Complete.

Q80WQ2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNPEKDFAPL TPNIVRALND KLYEKRKVAA LEIEKLVRDF VAQNNTMQIK
60 70 80 90 100
HVIQTLSQEF ALSQHPHSRK GGLIGLAACS IALGKDSGLY LKELIEPVLT
110 120 130 140 150
CFNDADSRLR YYACEALYNI VKVARGAVLP HFNVLFDGLS KLAADPDPNV
160 170 180 190 200
KSGSELLDRL LKDIVTESSK FDLVSFIPLL RERIYSNNQY ARQFIISWIL
210 220 230 240 250
VLVSVPDINL LDYLPEILDG LFQILGDNGK EIRKMCEVVL GEFLKEIKKN
260 270 280 290 300
PSSVKFAEMA NILVIHCQTT DDLIQLTAMC WMREFIQLAG RVMLPYSSGI
310 320 330 340 350
LTAVLPCLAY DDRKKSIKEV ANVCNQSLMK LVTPEDDEPD EPKSVAQKQT
360 370 380 390 400
EPNPEDSLPK QEGTASGGPG SCDSSFGSGI NVFTSANTDR APVTLHLDGI
410 420 430 440 450
VQVLNCHLSD TTIGMMTRIA VLKWLYHLYI KTPRKMFRHT DSLFPILLQT
460 470 480 490 500
LSDESDEVVL KDLEVLAEIA SSPAGQTDDP GAPDGPDLRV NHSELQVPTS
510 520 530 540 550
GRANLLNPPS TKGLEGSPST PTMNSYFYKF MINLLQTFSS ERKLLEARGP
560 570 580 590 600
FIIRQLCLLL NAENIFHSMA DILLREEDLK FASTMVHTLN TILLTSTELF
610 620 630 640 650
QLRNQLKDLQ TPESQNLFCC LYRSWCHNPV TTVSLCFLTQ NYRHAYDLIQ
660 670 680 690 700
KFGDLEVTVD FLTEVDKLVQ LIECPIFTYL RLQLLDVKNN PYLIKALYGL
710 720 730 740 750
LMLLPQSSAF QLLSHRLQCV PNPELLQTED CLKAAPKSQK GDSPSIDYTE
760 770 780
LLQHFEKVQK QHLEVRHQRS GRGDHLDRRV IL
Length:782
Mass (Da):88,048
Last modified:June 1, 2003 - v1
Checksum:i5545622BDE5D8F09
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti41V → A in BAC32886 (PubMed:16141072).Curated1
Sequence conflicti614S → R in BAE42537 (PubMed:16141072).Curated1
Sequence conflicti758V → A in BAE42537 (PubMed:16141072).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti156L → R in ingls; loss of interaction with Pikfyve but not with Fig4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK046826 mRNA Translation: BAC32886.1
AK171577 mRNA Translation: BAE42537.1
BC052199 mRNA Translation: AAH52199.1
CCDSiCCDS22663.1
RefSeqiNP_666328.2, NM_146216.2
UniGeneiMm.274894

Genome annotation databases

EnsembliENSMUST00000034190; ENSMUSP00000034190; ENSMUSG00000010936
GeneIDi234729
KEGGimmu:234729
UCSCiuc009nkv.2 mouse

Similar proteinsi

Entry informationi

Entry nameiVAC14_MOUSE
AccessioniPrimary (citable) accession number: Q80WQ2
Secondary accession number(s): Q3TAX7, Q8C8K8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: June 1, 2003
Last modified: March 28, 2018
This is version 126 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health