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Protein

Protein VAC14 homolog

Gene

Vac14

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2157980. Vac14.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

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

ChEMBLiCHEMBL2176841.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 782782Protein VAC14 homologPRO_0000300486Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineBy similarity
Modified residuei11 – 111PhosphothreonineBy similarity
Modified residuei499 – 4991PhosphothreonineBy similarity
Modified residuei517 – 5171PhosphoserineBy similarity
Modified residuei743 – 7431PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ80WQ2.
MaxQBiQ80WQ2.
PaxDbiQ80WQ2.
PeptideAtlasiQ80WQ2.
PRIDEiQ80WQ2.

PTM databases

iPTMnetiQ80WQ2.
PhosphoSiteiQ80WQ2.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSMUSG00000010936.
CleanExiMM_VAC14.
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 interactions.
IntActiQ80WQ2. 6 interactions.
STRINGi10090.ENSMUSP00000034190.

Structurei

3D structure databases

ProteinModelPortaliQ80WQ2.
SMRiQ80WQ2. Positions 94-120, 414-470.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati5 – 4238HEAT 1Add
BLAST
Repeati89 – 12638HEAT 2Add
BLAST
Repeati171 – 20838HEAT 3Add
BLAST
Repeati212 – 24938HEAT 4Add
BLAST
Repeati438 – 47538HEAT 5Add
BLAST
Repeati560 – 59839HEAT 6Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni773 – 7775Mediates interaction with the PDZ domain of NOS1By similarity

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
Contains 6 HEAT repeats.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.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR026825. Vac14.
IPR032878. Vac14_Fab1-bd.
IPR021841. VAC14_Fig4p-bd.
[Graphical view]
PANTHERiPTHR16023. PTHR16023. 2 hits.
PfamiPF12755. Vac14_Fab1_bd. 1 hit.
PF11916. Vac14_Fig4_bd. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti41 – 411V → A in BAC32886 (PubMed:16141072).Curated
Sequence conflicti614 – 6141S → R in BAE42537 (PubMed:16141072).Curated
Sequence conflicti758 – 7581V → A in BAE42537 (PubMed:16141072).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti156 – 1561L → R in ingls; loss of interaction with Pikfyve but not with Fig4. 1 Publication

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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ80WQ2.
SMRiQ80WQ2. Positions 94-120, 414-470.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi231569. 3 interactions.
IntActiQ80WQ2. 6 interactions.
STRINGi10090.ENSMUSP00000034190.

Chemistry

ChEMBLiCHEMBL2176841.

PTM databases

iPTMnetiQ80WQ2.
PhosphoSiteiQ80WQ2.

Proteomic databases

EPDiQ80WQ2.
MaxQBiQ80WQ2.
PaxDbiQ80WQ2.
PeptideAtlasiQ80WQ2.
PRIDEiQ80WQ2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55697.
MGIiMGI:2157980. Vac14.

Phylogenomic databases

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

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.

Miscellaneous databases

PROiQ80WQ2.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000010936.
CleanExiMM_VAC14.
GenevisibleiQ80WQ2. MM.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR026825. Vac14.
IPR032878. Vac14_Fab1-bd.
IPR021841. VAC14_Fig4p-bd.
[Graphical view]
PANTHERiPTHR16023. PTHR16023. 2 hits.
PfamiPF12755. Vac14_Fab1_bd. 1 hit.
PF11916. Vac14_Fig4_bd. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiVAC14_MOUSE
AccessioniPrimary (citable) accession number: Q80WQ2
Secondary accession number(s): Q3TAX7, Q8C8K8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: June 1, 2003
Last modified: September 7, 2016
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.