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UniProtKB - Q08AM6 (VAC14_HUMAN)

Protein

Protein VAC14 homolog

Gene

VAC14

Organism
Homo sapiens (Human)
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

  • signaling receptor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • phosphatidylinositol biosynthetic process Source: GO_Central
  • signal transduction Source: UniProtKB
  • viral process Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processHost-virus interaction

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000103043-MONOMER
ReactomeiR-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane
SIGNORiQ08AM6

Names & Taxonomyi

Protein namesi
Recommended name:
Protein VAC14 homolog
Alternative name(s):
Tax1-binding protein 2
Gene namesi
Name:VAC14
Synonyms:TAX1BP2, TRX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103043.14
HGNCiHGNC:25507 VAC14
MIMi604632 gene
neXtProtiNX_Q08AM6

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

Striatonigral degeneration, childhood-onset (SNDC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI.
See also OMIM:617054
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077031424W → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs762388639EnsemblClinVar.1
Natural variantiVAR_077032582A → S in SNDC. 1 PublicationCorresponds to variant dbSNP:rs749094914EnsemblClinVar.1
Natural variantiVAR_077033583S → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs879255645EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi773G → A: Reduces interaction with NOS1. 1 Publication1
Mutagenesisi774D → A: Reduces interaction with NOS1. 1 Publication1
Mutagenesisi776L → A: Reduces interaction with NOS1. 1 Publication1
Mutagenesisi777D → A: Abolishes interaction with NOS1. 1 Publication1
Mutagenesisi780 – 782VVL → AAA: Reduces interaction with NOS1. 1 Publication3
Mutagenesisi782L → G: Reduces interaction with NOS1. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi55697
MalaCardsiVAC14
MIMi617054 phenotype
OpenTargetsiENSG00000103043
Orphaneti497906 Childhood-onset basal ganglia degeneration syndrome
3472 Yunis-Varon syndrome
PharmGKBiPA142670633

Polymorphism and mutation databases

BioMutaiVAC14
DMDMi121940040

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003004851 – 782Protein VAC14 homologAdd BLAST782

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei11PhosphothreonineCombined sources1
Modified residuei499PhosphothreonineCombined sources1
Modified residuei517PhosphoserineCombined sources1
Modified residuei743PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ08AM6
MaxQBiQ08AM6
PaxDbiQ08AM6
PeptideAtlasiQ08AM6
PRIDEiQ08AM6
ProteomicsDBi58681

PTM databases

iPTMnetiQ08AM6
PhosphoSitePlusiQ08AM6
SwissPalmiQ08AM6

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000103043 Expressed in 184 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_VAC14
ExpressionAtlasiQ08AM6 baseline and differential
GenevisibleiQ08AM6 HS

Organism-specific databases

HPAiHPA027766

Interactioni

Subunit structurei

Forms homooligomers. 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 NOS1.3 Publications
(Microbial infection) Interacts with HTLV-1 Tax.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi120822, 94 interactors
CORUMiQ08AM6
IntActiQ08AM6, 112 interactors
MINTiQ08AM6
STRINGi9606.ENSP00000261776

Structurei

3D structure databases

ProteinModelPortaliQ08AM6
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 NOS15

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.1 Publication

Sequence similaritiesi

Belongs to the VAC14 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0212 Eukaryota
ENOG410XP6E LUCA
GeneTreeiENSGT00390000008385
HOVERGENiHBG104397
InParanoidiQ08AM6
KOiK15305
OMAiYKHAYDL
OrthoDBiEOG091G02O6
PhylomeDBiQ08AM6
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, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q08AM6-1) [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.

« Hide
        10         20         30         40         50
MNPEKDFAPL TPNIVRALND KLYEKRKVAA LEIEKLVREF VAQNNTVQIK 
        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 LKDIVTESNK FDLVSFIPLL RERIYSNNQY ARQFIISWIL 
       210        220        230        240        250
VLESVPDINL LDYLPEILDG LFQILGDNGK EIRKMCEVVL GEFLKEIKKN 
       260        270        280        290        300
PSSVKFAEMA NILVIHCQTT DDLIQLTAMC WMREFIQLAG RVMLPYSSGI 
       310        320        330        340        350
LTAVLPCLAY DDRKKSIKEV ANVCNQSLMK LVTPEDDELD ELRPGQRQAE 
       360        370        380        390        400
PTPDDALPKQ EGTASGGPDG SCDSSFSSGI SVFTAASTER APVTLHLDGI 
       410        420        430        440        450
VQVLNCHLSD TAIGMMTRIA VLKWLYHLYI KTPRKMFRHT DSLFPILLQT 
       460        470        480        490        500
LSDESDEVIL KDLEVLAEIA SSPAGQTDDP GPLDGPDLQA SHSELQVPTP 
       510        520        530        540        550
GRAGLLNTSG TKGLECSPST PTMNSYFYKF MINLLKRFSS ERKLLEVRGP 
       560        570        580        590        600
FIIRQLCLLL NAENIFHSMA DILLREEDLK FASTMVHALN TILLTSTELF 
       610        620        630        640        650
QLRNQLKDLK TLESQNLFCC LYRSWCHNPV TTVSLCFLTQ NYRHAYDLIQ 
       660        670        680        690        700
KFGDLEVTVD FLAEVDKLVQ LIECPIFTYL RLQLLDVKNN PYLIKALYGL 
       710        720        730        740        750
LMLLPQSSAF QLLSHRLQCV PNPELLQTED SLKAAPKSQK ADSPSIDYAE 
       760        770        780 
LLQHFEKVQN KHLEVRHQRS GRGDHLDRRV VL
Length:782
Mass (Da):87,973
Last modified:October 31, 2006 - v1
Checksum:iB39AC1F4D619570F
GO
Isoform 2 (identifier: Q08AM6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-568: Missing.

Note: No experimental confirmation available.
Show »
Length:214
Mass (Da):24,783
Checksum:iE438C0F3365F70AB
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BUU8H3BUU8_HUMAN
Protein VAC14 homolog
VAC14
201Annotation score:
H3BQD9H3BQD9_HUMAN
Protein VAC14 homolog
VAC14
260Annotation score:
A0A087WT26A0A087WT26_HUMAN
Protein VAC14 homolog
VAC14
185Annotation score:
H3BN23H3BN23_HUMAN
Protein VAC14 homolog
VAC14
40Annotation score:
J3QLC3J3QLC3_HUMAN
Protein VAC14 homolog
VAC14
17Annotation score:

Sequence cautioni

The sequence AAB03813 differs from that shown. Unknown C-terminal region.Curated
The sequence BAB15145 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti257A → P in AAB03813 (PubMed:8611628).Curated1
Sequence conflicti263L → P in AAB03813 (PubMed:8611628).Curated1
Sequence conflicti352T → A in CAG33624 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077031424W → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs762388639EnsemblClinVar.1
Natural variantiVAR_077032582A → S in SNDC. 1 PublicationCorresponds to variant dbSNP:rs749094914EnsemblClinVar.1
Natural variantiVAR_077033583S → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs879255645EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0560971 – 568Missing in isoform 2. 1 PublicationAdd BLAST568

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025479 mRNA Translation: BAB15145.1 Different initiation.
AK056433 mRNA Translation: BAG51707.1
AK093941 mRNA Translation: BAG52790.1
AC020763 Genomic DNA No translation available.
AC027281 Genomic DNA No translation available.
BC000536 mRNA Translation: AAH00536.2
BC007214 mRNA Translation: AAH07214.2
BC125108 mRNA Translation: AAI25109.1
BC125109 mRNA Translation: AAI25110.1
U25801 mRNA Translation: AAB03813.1 Sequence problems.
CR457343 mRNA Translation: CAG33624.1
CCDSiCCDS10896.1 [Q08AM6-1]
PIRiS68091
RefSeqiNP_060522.3, NM_018052.3 [Q08AM6-1]
UniGeneiHs.445061

Genome annotation databases

EnsembliENST00000261776; ENSP00000261776; ENSG00000103043 [Q08AM6-1]
ENST00000536184; ENSP00000439284; ENSG00000103043 [Q08AM6-2]
GeneIDi55697
KEGGihsa:55697
UCSCiuc002ezm.4 human [Q08AM6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025479 mRNA Translation: BAB15145.1 Different initiation.
AK056433 mRNA Translation: BAG51707.1
AK093941 mRNA Translation: BAG52790.1
AC020763 Genomic DNA No translation available.
AC027281 Genomic DNA No translation available.
BC000536 mRNA Translation: AAH00536.2
BC007214 mRNA Translation: AAH07214.2
BC125108 mRNA Translation: AAI25109.1
BC125109 mRNA Translation: AAI25110.1
U25801 mRNA Translation: AAB03813.1 Sequence problems.
CR457343 mRNA Translation: CAG33624.1
CCDSiCCDS10896.1 [Q08AM6-1]
PIRiS68091
RefSeqiNP_060522.3, NM_018052.3 [Q08AM6-1]
UniGeneiHs.445061

3D structure databases

ProteinModelPortaliQ08AM6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120822, 94 interactors
CORUMiQ08AM6
IntActiQ08AM6, 112 interactors
MINTiQ08AM6
STRINGi9606.ENSP00000261776

PTM databases

iPTMnetiQ08AM6
PhosphoSitePlusiQ08AM6
SwissPalmiQ08AM6

Polymorphism and mutation databases

BioMutaiVAC14
DMDMi121940040

Proteomic databases

EPDiQ08AM6
MaxQBiQ08AM6
PaxDbiQ08AM6
PeptideAtlasiQ08AM6
PRIDEiQ08AM6
ProteomicsDBi58681

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261776; ENSP00000261776; ENSG00000103043 [Q08AM6-1]
ENST00000536184; ENSP00000439284; ENSG00000103043 [Q08AM6-2]
GeneIDi55697
KEGGihsa:55697
UCSCiuc002ezm.4 human [Q08AM6-1]

Organism-specific databases

CTDi55697
DisGeNETi55697
EuPathDBiHostDB:ENSG00000103043.14
GeneCardsiVAC14
HGNCiHGNC:25507 VAC14
HPAiHPA027766
MalaCardsiVAC14
MIMi604632 gene
617054 phenotype
neXtProtiNX_Q08AM6
OpenTargetsiENSG00000103043
Orphaneti497906 Childhood-onset basal ganglia degeneration syndrome
3472 Yunis-Varon syndrome
PharmGKBiPA142670633
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0212 Eukaryota
ENOG410XP6E LUCA
GeneTreeiENSGT00390000008385
HOVERGENiHBG104397
InParanoidiQ08AM6
KOiK15305
OMAiYKHAYDL
OrthoDBiEOG091G02O6
PhylomeDBiQ08AM6
TreeFamiTF343690

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000103043-MONOMER
ReactomeiR-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane
SIGNORiQ08AM6

Miscellaneous databases

ChiTaRSiVAC14 human
GeneWikiiVAC14
GenomeRNAii55697
PROiPR:Q08AM6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103043 Expressed in 184 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_VAC14
ExpressionAtlasiQ08AM6 baseline and differential
GenevisibleiQ08AM6 HS

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, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiVAC14_HUMAN
AccessioniPrimary (citable) accession number: Q08AM6
Secondary accession number(s): B3KPJ5
, B3KSM8, Q13174, Q6IA12, Q7L4Y1, Q9BW96, Q9H6V6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: October 31, 2006
Last modified: November 7, 2018
This is version 120 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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