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Protein

Protein VAC14 homolog

Gene

VAC14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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

  • receptor activity Source: UniProtKB

GO - Biological processi

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.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:25507. VAC14.

Subcellular locationi

GO - Cellular componenti

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:rs762388639Ensembl.1
Natural variantiVAR_077032582A → S in SNDC. 1 Publication1
Natural variantiVAR_077033583S → L in SNDC. 1 Publication1

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.
MIMi617054. phenotype.
OpenTargetsiENSG00000103043.
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.

PTM databases

iPTMnetiQ08AM6.
PhosphoSitePlusiQ08AM6.
SwissPalmiQ08AM6.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000103043.
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. Interacts with HTLV-1 Tax.4 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi120822. 83 interactors.
IntActiQ08AM6. 104 interactors.
MINTiMINT-3997917.
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.
OMAiCIEKEED.
OrthoDBiEOG091G02O6.
PhylomeDBiQ08AM6.
TreeFamiTF343690.

Family and domain databases

Gene3Di1.25.10.10. 3 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.

Sequences (2)i

Sequence statusi: Complete.

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

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

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:rs762388639Ensembl.1
Natural variantiVAR_077032582A → S in SNDC. 1 Publication1
Natural variantiVAR_077033583S → L in SNDC. 1 Publication1

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

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. 83 interactors.
IntActiQ08AM6. 104 interactors.
MINTiMINT-3997917.
STRINGi9606.ENSP00000261776.

PTM databases

iPTMnetiQ08AM6.
PhosphoSitePlusiQ08AM6.
SwissPalmiQ08AM6.

Polymorphism and mutation databases

BioMutaiVAC14.
DMDMi121940040.

Proteomic databases

EPDiQ08AM6.
MaxQBiQ08AM6.
PaxDbiQ08AM6.
PeptideAtlasiQ08AM6.
PRIDEiQ08AM6.

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.
GeneCardsiVAC14.
HGNCiHGNC:25507. VAC14.
HPAiHPA027766.
MIMi604632. gene.
617054. phenotype.
neXtProtiNX_Q08AM6.
OpenTargetsiENSG00000103043.
PharmGKBiPA142670633.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0212. Eukaryota.
ENOG410XP6E. LUCA.
GeneTreeiENSGT00390000008385.
HOVERGENiHBG104397.
InParanoidiQ08AM6.
KOiK15305.
OMAiCIEKEED.
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.

Miscellaneous databases

ChiTaRSiVAC14. human.
GeneWikiiVAC14.
GenomeRNAii55697.
PROiPR:Q08AM6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103043.
CleanExiHS_VAC14.
ExpressionAtlasiQ08AM6. baseline and differential.
GenevisibleiQ08AM6. HS.

Family and domain databases

Gene3Di1.25.10.10. 3 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.
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: April 12, 2017
This is version 106 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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.