UniProtKB - Q08AM6 (VAC14_HUMAN)
Protein VAC14 homolog
VAC14
Functioni
GO - Molecular functioni
- identical protein binding Source: IntAct
- signaling receptor activity Source: UniProtKB
GO - Biological processi
- phosphatidylinositol biosynthetic process Source: GO_Central
- positive regulation of kinase activity Source: GO_Central
- signal transduction Source: UniProtKB
- viral process Source: UniProtKB-KW
Keywordsi
Biological process | Host-virus interaction |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000103043-MONOMER |
PathwayCommonsi | Q08AM6 |
Reactomei | R-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 |
SIGNORi | Q08AM6 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein VAC14 homologAlternative name(s): Tax1-binding protein 2 |
Gene namesi | Name:VAC14 Synonyms:TAX1BP2, TRX |
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
HGNCi | HGNC:25507, VAC14 |
MIMi | 604632, gene |
neXtProti | NX_Q08AM6 |
VEuPathDBi | HostDB:ENSG00000103043.14 |
Subcellular locationi
Endoplasmic reticulum
- Microsome membrane By similarity
Endosome
- Endosome membrane 2 Publications
Note: Mainly associated with membranes of the late endocytic pathway.
Cytosol
- cytosol Source: HPA
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB-KW
Endosome
- early endosome membrane Source: Reactome
- endosome membrane Source: UniProtKB
- late endosome membrane Source: Reactome
Golgi apparatus
- Golgi membrane Source: Reactome
Other locations
- extrinsic component of vacuolar membrane Source: GO_Central
- intracellular membrane-bounded organelle Source: HPA
- PAS complex Source: GO_Central
Keywords - Cellular componenti
Endoplasmic reticulum, Endosome, Membrane, MicrosomePathology & Biotechi
Involvement in diseasei
Striatonigral degeneration, childhood-onset (SNDC)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077031 | 424 | W → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs762388639EnsemblClinVar. | 1 | |
Natural variantiVAR_077032 | 582 | A → S in SNDC. 1 PublicationCorresponds to variant dbSNP:rs749094914EnsemblClinVar. | 1 | |
Natural variantiVAR_077033 | 583 | S → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs879255645EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 773 | G → A: Reduces interaction with NOS1. 1 Publication | 1 | |
Mutagenesisi | 774 | D → A: Reduces interaction with NOS1. 1 Publication | 1 | |
Mutagenesisi | 776 | L → A: Reduces interaction with NOS1. 1 Publication | 1 | |
Mutagenesisi | 777 | D → A: Abolishes interaction with NOS1. 1 Publication | 1 | |
Mutagenesisi | 780 – 782 | VVL → AAA: Reduces interaction with NOS1. 1 Publication | 3 | |
Mutagenesisi | 782 | L → G: Reduces interaction with NOS1. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 55697 |
MalaCardsi | VAC14 |
MIMi | 617054, phenotype |
OpenTargetsi | ENSG00000103043 |
Orphaneti | 497906, Childhood-onset basal ganglia degeneration syndrome 3472, Yunis-Varon syndrome |
PharmGKBi | PA142670633 |
Miscellaneous databases
Pharosi | Q08AM6, Tbio |
Genetic variation databases
BioMutai | VAC14 |
DMDMi | 121940040 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000300485 | 1 – 782 | Protein VAC14 homologAdd BLAST | 782 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 11 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 499 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 517 | PhosphoserineCombined sources | 1 | |
Modified residuei | 743 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q08AM6 |
jPOSTi | Q08AM6 |
MassIVEi | Q08AM6 |
MaxQBi | Q08AM6 |
PaxDbi | Q08AM6 |
PeptideAtlasi | Q08AM6 |
PRIDEi | Q08AM6 |
ProteomicsDBi | 3649 58681 [Q08AM6-1] |
PTM databases
iPTMneti | Q08AM6 |
MetOSitei | Q08AM6 |
PhosphoSitePlusi | Q08AM6 |
SwissPalmi | Q08AM6 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000103043, Expressed in stromal cell of endometrium and 201 other tissues |
ExpressionAtlasi | Q08AM6, baseline and differential |
Genevisiblei | Q08AM6, HS |
Organism-specific databases
HPAi | ENSG00000103043, Low tissue specificity |
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 PublicationBinary interactionsi
Q08AM6
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 120822, 165 interactors |
CORUMi | Q08AM6 |
IntActi | Q08AM6, 138 interactors |
MINTi | Q08AM6 |
STRINGi | 9606.ENSP00000261776 |
Miscellaneous databases
RNActi | Q08AM6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 5 – 42 | HEAT 1Add BLAST | 38 | |
Repeati | 89 – 126 | HEAT 2Add BLAST | 38 | |
Repeati | 171 – 208 | HEAT 3Add BLAST | 38 | |
Repeati | 212 – 249 | HEAT 4Add BLAST | 38 | |
Repeati | 438 – 475 | HEAT 5Add BLAST | 38 | |
Repeati | 560 – 598 | HEAT 6Add BLAST | 39 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 773 – 777 | Mediates interaction with the PDZ domain of NOS1 | 5 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0212, Eukaryota |
GeneTreei | ENSGT00390000008385 |
HOGENOMi | CLU_007740_1_0_1 |
InParanoidi | Q08AM6 |
OMAi | SWITVLD |
OrthoDBi | 306227at2759 |
PhylomeDBi | Q08AM6 |
TreeFami | TF343690 |
Family and domain databases
Gene3Di | 1.25.10.10, 2 hits |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR026825, Vac14 IPR021841, VAC14_Fig4p-bd |
PANTHERi | PTHR16023, PTHR16023, 1 hit |
Pfami | View protein in Pfam PF11916, Vac14_Fig4_bd, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BQD9 | H3BQD9_HUMAN | Protein VAC14 homolog | VAC14 | 260 | Annotation score: | ||
A0A087WT26 | A0A087WT26_HUMAN | Protein VAC14 homolog | VAC14 | 185 | Annotation score: | ||
H3BUU8 | H3BUU8_HUMAN | Protein VAC14 homolog | VAC14 | 201 | Annotation score: | ||
H3BN23 | H3BN23_HUMAN | Protein VAC14 homolog | VAC14 | 40 | Annotation score: | ||
J3QLC3 | J3QLC3_HUMAN | Protein VAC14 homolog | VAC14 | 17 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 257 | A → P in AAB03813 (PubMed:8611628).Curated | 1 | |
Sequence conflicti | 263 | L → P in AAB03813 (PubMed:8611628).Curated | 1 | |
Sequence conflicti | 352 | T → A in CAG33624 (Ref. 5) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077031 | 424 | W → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs762388639EnsemblClinVar. | 1 | |
Natural variantiVAR_077032 | 582 | A → S in SNDC. 1 PublicationCorresponds to variant dbSNP:rs749094914EnsemblClinVar. | 1 | |
Natural variantiVAR_077033 | 583 | S → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs879255645EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056097 | 1 – 568 | Missing in isoform 2. 1 PublicationAdd BLAST | 568 |
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 |
CCDSi | CCDS10896.1 [Q08AM6-1] |
PIRi | S68091 |
RefSeqi | NP_060522.3, NM_018052.3 [Q08AM6-1] |
Genome annotation databases
Ensembli | ENST00000261776; ENSP00000261776; ENSG00000103043 [Q08AM6-1] ENST00000536184; ENSP00000439284; ENSG00000103043 [Q08AM6-2] |
GeneIDi | 55697 |
KEGGi | hsa:55697 |
UCSCi | uc002ezm.4, human [Q08AM6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS10896.1 [Q08AM6-1] |
PIRi | S68091 |
RefSeqi | NP_060522.3, NM_018052.3 [Q08AM6-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120822, 165 interactors |
CORUMi | Q08AM6 |
IntActi | Q08AM6, 138 interactors |
MINTi | Q08AM6 |
STRINGi | 9606.ENSP00000261776 |
PTM databases
iPTMneti | Q08AM6 |
MetOSitei | Q08AM6 |
PhosphoSitePlusi | Q08AM6 |
SwissPalmi | Q08AM6 |
Genetic variation databases
BioMutai | VAC14 |
DMDMi | 121940040 |
Proteomic databases
EPDi | Q08AM6 |
jPOSTi | Q08AM6 |
MassIVEi | Q08AM6 |
MaxQBi | Q08AM6 |
PaxDbi | Q08AM6 |
PeptideAtlasi | Q08AM6 |
PRIDEi | Q08AM6 |
ProteomicsDBi | 3649 58681 [Q08AM6-1] |
Protocols and materials databases
Antibodypediai | 16467, 94 antibodies |
Genome annotation databases
Ensembli | ENST00000261776; ENSP00000261776; ENSG00000103043 [Q08AM6-1] ENST00000536184; ENSP00000439284; ENSG00000103043 [Q08AM6-2] |
GeneIDi | 55697 |
KEGGi | hsa:55697 |
UCSCi | uc002ezm.4, human [Q08AM6-1] |
Organism-specific databases
CTDi | 55697 |
DisGeNETi | 55697 |
GeneCardsi | VAC14 |
HGNCi | HGNC:25507, VAC14 |
HPAi | ENSG00000103043, Low tissue specificity |
MalaCardsi | VAC14 |
MIMi | 604632, gene 617054, phenotype |
neXtProti | NX_Q08AM6 |
OpenTargetsi | ENSG00000103043 |
Orphaneti | 497906, Childhood-onset basal ganglia degeneration syndrome 3472, Yunis-Varon syndrome |
PharmGKBi | PA142670633 |
VEuPathDBi | HostDB:ENSG00000103043.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0212, Eukaryota |
GeneTreei | ENSGT00390000008385 |
HOGENOMi | CLU_007740_1_0_1 |
InParanoidi | Q08AM6 |
OMAi | SWITVLD |
OrthoDBi | 306227at2759 |
PhylomeDBi | Q08AM6 |
TreeFami | TF343690 |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000103043-MONOMER |
PathwayCommonsi | Q08AM6 |
Reactomei | R-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 |
SIGNORi | Q08AM6 |
Miscellaneous databases
BioGRID-ORCSi | 55697, 58 hits in 998 CRISPR screens |
ChiTaRSi | VAC14, human |
GeneWikii | VAC14 |
GenomeRNAii | 55697 |
Pharosi | Q08AM6, Tbio |
PROi | PR:Q08AM6 |
RNActi | Q08AM6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000103043, Expressed in stromal cell of endometrium and 201 other tissues |
ExpressionAtlasi | Q08AM6, baseline and differential |
Genevisiblei | Q08AM6, HS |
Family and domain databases
Gene3Di | 1.25.10.10, 2 hits |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR026825, Vac14 IPR021841, VAC14_Fig4p-bd |
PANTHERi | PTHR16023, PTHR16023, 1 hit |
Pfami | View protein in Pfam PF11916, Vac14_Fig4_bd, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | VAC14_HUMAN | |
Accessioni | Q08AM6Primary (citable) accession number: Q08AM6 Secondary accession number(s): B3KPJ5 Q9H6V6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 11, 2007 |
Last sequence update: | October 31, 2006 | |
Last modified: | April 7, 2021 | |
This is version 138 of the entry and version 1 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families